Oncology Flashcards
1
Q
Types of cancer in the 0-15yo
- _____: 25% of total childhood cancers
- ___ tumors: 17%
- _____ are the most common primary childhood CNS tumors; can be astrocytomas or gliomas; can arise anywhere in the CNS (50-60% of brain tumors)
- _____ account for 40% of all childhood brain tumors.
- Cerebellar astrocytomas are the most common posterior fossa tumors of childhood (12%)
- Primitive neuroectodermal tumors are the most common type of malignant CNS tumor in childhood, and _______ account for most of these. Medulloblastomas make up ~33% of all infratentorial tumors in children.
- Craniopharyngiomas are benign tumors that arise in the suprasellar regions.
- Symptoms of increased intracranial pressure (headache, nausea, vomiting) and vision problems
- > 50% of children have visual changes due to optic involvement.
- Morbidity is due to damage to the pituitary gland and the optic chiasm incurred as the tumor grows, and secondary to treatment. As such, children with craniopharyngiomas frequently experience panhypopituitarism - central hypothyroidism, hypocortisolism, hypogonadism, GH deficiency, and diabetes insipidus, all of which require hormone replacement.
- Growth hormone deficiency is the most common anterior pituitary hormone deficiency at the time of diagnosis of craniopharyngioma, presenting as growth problems.
- Dx: MRI w and wo contrast is the standard imaging modality where appears as a cystic mass. Characteristic intratumoral suprasellar calcifications of cystic mass can be seen on CT.
- Calcifications in the suprasellar regions are present in most cases.
- Tx: Surgery is recommended for many craniopharyngiomas, but location is frequently a problem.
- Diabetes insipidus is a common complication of surgery.
- Symptoms of increased intracranial pressure (headache, nausea, vomiting) and vision problems
- _____ are the most common primary childhood CNS tumors; can be astrocytomas or gliomas; can arise anywhere in the CNS (50-60% of brain tumors)
- ______ 7% - Most common malignancy in infants
A
Types of cancer in the 0-15yo
- Leukemias: 25% of total childhood cancers
- CNS tumors: 17%
- Gliomas are the most common primary childhood CNS tumors; can be astrocytomas or gliomas; can arise anywhere in the CNS (50-60% of brain tumors)
- Astrocytomas account for 40% of all childhood brain tumors.
- Cerebellar astrocytomas are the most common posterior fossa tumors of childhood (12%)
- Primitive neuroectodermal tumors are the most common type of malignant CNS tumor in childhood, and medulloblastomas account for most of these. Medulloblastomas make up ~33% of all infratentorial tumors in children.
- Craniopharyngiomas are benign tumors that arise in the suprasellar regions.
- Symptoms of increased intracranial pressure (headache, nausea, vomiting) and vision problems
- > 50% of children have visual changes due to optic involvement.
- Morbidity is due to damage to the pituitary gland and the optic chiasm incurred as the tumor grows, and secondary to treatment. As such, children with craniopharyngiomas frequently experience panhypopituitarism - central hypothyroidism, hypocortisolism, hypogonadism, GH deficiency, and diabetes insipidus, all of which require hormone replacement.
- Growth hormone deficiency is the most common anterior pituitary hormone deficiency at the time of diagnosis of craniopharyngioma, presenting as growth problems.
- Dx: MRI w and wo contrast is the standard imaging modality where appears as a cystic mass. Characteristic intratumoral suprasellar calcifications of cystic mass can be seen on CT.
- Calcifications in the suprasellar regions are present in most cases.
- Tx: Surgery is recommended for many craniopharyngiomas, but location is frequently a problem.
- Diabetes insipidus is a common complication of surgery.
- Symptoms of increased intracranial pressure (headache, nausea, vomiting) and vision problems
- Gliomas are the most common primary childhood CNS tumors; can be astrocytomas or gliomas; can arise anywhere in the CNS (50-60% of brain tumors)
- Neuroblastoma 7% - Most common malignancy in infants
2
Q
LEUKEMIA
- CBC is the initial test if leukemia is suspected. If abnormal, a bone marrow biopsy is performed as well as a lumbar puncture to determine if the CNS is affected.
- Flow cytometry is the diagnostic test of choice for leukemia bc it can distinguish cells with aberrant surface marker expression.
A
LEUKEMIA
- CBC is the initial test if leukemia is suspected. If abnormal, a bone marrow biopsy is performed as well as a lumbar puncture to determine if the CNS is affected.
- Flow cytometry is the diagnostic test of choice for leukemia bc it can distinguish cells with aberrant surface marker expression.
3
Q
Acute Lymphoblastic Leukemia (ALL)
- Most common form of childhood cancer and one of the most curable cancers today.
- Accepted risk factors for ALL
- Prenatal radiation exposure
- Postnatal exposure to high doses of radiation
- Down syndrome
- Ataxia-telangiectasia (ataxia, speech delay, frequent sinopulmonary infections, and classic telangiectasias)
- Bloom syndrome
- Fanconi anemia
- Neurofibromatosis
- Good prognostic indicators for ALL
- Rapid response to treatment
- Hyperdiploidy (>50 chromosomes or DNA index >1.16)
- Trisomies of chromosomes 4 and 10
- t(__) translocation (TEL-AML)
- Female gender
- Poorer prognostic indicators for ALL
- Age _____yo at diagnosis
- Presence of the Philadelphia chromosome t(___)
- Abnormalities of the MLL gene; i.e. t(4;11)
- WBC count >50,000 cells/uL on presentation
- Mature B-cell leukemia
- T-cell leukemia
- African American or Hispanic ethnicity
- Pt:
- Most common presentation is the “4 Ps”: Pallor, pyrexia, purpura, and pain.
- Fever, lymphadenopathy, bone pain, bleeding
- Be aware of the limping 2-5 yo with pallor! The presence of bone pain can distinguish the pancytopenia of leukemia from the pancytopenia of aplastic anemia. Many children with leukemia present with bone pain. Parents often report carrying the child everywhere.
- Generalized lymphadenopathy and hepatosplenomegaly are seen in >50% of pts.
- Most common presentation is the “4 Ps”: Pallor, pyrexia, purpura, and pain.
- Lab findings
- 90% of pts with ALL have an abnormal CBC at the time of diagnosis.
- Normocytic normochromic anemia and reticulocytopenia occur frequently.
- The WBC count can be very low to very high
- Despite relatively high WBC counts at presentation, a majority of patients have severe neutropenia, putting them at increased risk for infection.
- Thrombocytopenia is also very common
- 90% of pts with ALL have an abnormal CBC at the time of diagnosis.
- Dx: Bone marrow evaluation- classically hypercellular and infiltrated with leukemic lymphoblasts.
- For diagnosis of acute leukemia, at least ____% of the marrow must be involved
- Relapse
- Relapse can occur in the___ > ____ > ____, or any combination of these sites.
- CNS Relapse
- Pt: Most headaches reported by survivors are not caused by a relapse, but relapse should be considered when close to proximity of tx
- Dx: If a CNS relapse of leukemia is suspected, a lumbar puncture with examination of the CSF for leukemic blasts should be performed.
- CNS Relapse
- The most important predictive factor for achieving a 2nd remission is _____
- Relapse can occur in the___ > ____ > ____, or any combination of these sites.
- Long-term effects of therapy
- ______ toxicity have been noted in those receiving intrathecal and radiation therapy.
- Seizures occur in 5-15% of children with standard CNS therapy
- Cranial radiation results in neurodevelopmental and neuroendocrine abnormalities (including growth hormone deficiency) and spinal radiation can cause growth retardation.
- ______ toxicity have been noted in those receiving intrathecal and radiation therapy.
A
Acute Lymphoblastic Leukemia (ALL)
- Most common form of childhood cancer and one of the most curable cancers today.
- Accepted risk factors for ALL
- Prenatal radiation exposure
- Postnatal exposure to high doses of radiation
- Down syndrome
- Ataxia-telangiectasia (ataxia, speech delay, frequent sinopulmonary infections, and classic telangiectasias)
- Bloom syndrome
- Fanconi anemia
- Neurofibromatosis
- Good prognostic indicators for ALL
- Rapid response to treatment
- Hyperdiploidy (>50 chromosomes or DNA index >1.16)
- Trisomies of chromosomes 4 and 10
- t(12;21) translocation (TEL-AML)
- Female gender
- Poorer prognostic indicators for ALL
- Age <1yo or >10yo at diagnosis
- Presence of the Philadelphia chromosome t(9;22)
- Abnormalities of the MLL gene; i.e. t(4;11)
- WBC count >50,000 cells/uL on presentation
- Mature B-cell leukemia
- T-cell leukemia
- African American or Hispanic ethnicity
- Pt:
- Most common presentation is the “4 Ps”: Pallor, pyrexia, purpura, and pain.
- Fever, lymphadenopathy, bone pain, bleeding
- Be aware of the limping 2-5 yo with pallor! The presence of bone pain can distinguish the pancytopenia of leukemia from the pancytopenia of aplastic anemia. Many children with leukemia present with bone pain. Parents often report carrying the child everywhere.
- Generalized lymphadenopathy and hepatosplenomegaly are seen in >50% of pts.
- Most common presentation is the “4 Ps”: Pallor, pyrexia, purpura, and pain.
- Lab findings
- 90% of pts with ALL have an abnormal CBC at the time of diagnosis.
- Normocytic normochromic anemia and reticulocytopenia occur frequently.
- The WBC count can be very low to very high
- Despite relatively high WBC counts at presentation, a majority of patients have severe neutropenia, putting them at increased risk for infection.
- Thrombocytopenia is also very common
- 90% of pts with ALL have an abnormal CBC at the time of diagnosis.
- Dx: Bone marrow evaluation- classically hypercellular and infiltrated with leukemic lymphoblasts.
- For diagnosis of acute leukemia, at least 25% of the marrow must be involved
- Relapse
- Relapse can occur in the bone marrow > the CNS (bc many chemotherapeutic drugs have difficulty crossing the BBB) >the testes (blood-testicular barrier behaves in a similar way to the blood-brain barrier), or any combination of these sites.
- CNS Relapse
- Pt: Most headaches reported by survivors are not caused by a relapse, but relapse should be considered when close to proximity of tx
- Dx: If a CNS relapse of leukemia is suspected, a lumbar puncture with examination of the CSF for leukemic blasts should be performed.
- CNS Relapse
- The most important predictive factor for achieving a 2nd remission is the length of time that 1st remission lasted (ie the longer the 1st remission lasted, the better the survival rate).
- Relapse can occur in the bone marrow > the CNS (bc many chemotherapeutic drugs have difficulty crossing the BBB) >the testes (blood-testicular barrier behaves in a similar way to the blood-brain barrier), or any combination of these sites.
- Long-term effects of therapy
- Early and late CNS toxicity have been noted in those receiving intrathecal and radiation therapy.
- Seizures occur in 5-15% of children with standard CNS therapy
- Cranial radiation results in neurodevelopmental and neuroendocrine abnormalities (including growth hormone deficiency) and spinal radiation can cause growth retardation.
- Early and late CNS toxicity have been noted in those receiving intrathecal and radiation therapy.
4
Q
Acute Myeloid Leukemia
- Some conditions predispose to AML:
- Trisomy 21
- Diamond-Blackfan anemia
- Fanconi anemia
- Bloom syndrome
- Kostmann syndrome
- Paroxysmal nocturnal hemoglobinuria
- Neurofibromatosis
- Previous exposure to VP-16 and ionizing radiation
- 7 subtypes
- M3: Acute promyelocytic leukemia. Chromosome t(15;17). DIC
- For example, t(___ is found in most cases of _____. Children with APML present with ____.
- M3: Acute promyelocytic leukemia. Chromosome t(15;17). DIC
- Pt:
- Chloromas are a localized mass of leukemia cells and are often present at the time of diagnosis. For example, an ______ can be the 1st clue to the diagnosis.
- Dx: Bone marrow evaluation
- Bone marrow morphology, flow cytometry, and cytogenetics are used to classify AML
- Finding _____ inside peripheral blood blast cells is pathognomonic for AML
- Children with acute promyelocytic leukemia (APL; M3 subtype) represent a unique subset of AML pts who have excellent cure rates. These children receive _____ in addition to chemotherapy - and do not undergo transplant.
A
Acute Myeloid Leukemia
- Some conditions predispose to AML:
- Trisomy 21
- Diamond-Blackfan anemia
- Fanconi anemia
- Bloom syndrome
- Kostmann syndrome
- Paroxysmal nocturnal hemoglobinuria
- Neurofibromatosis
- Previous exposure to VP-16 and ionizing radiation
- 7 subtypes
- M3: Acute promyelocytic leukemia. Chromosome t(15;17). DIC
- For example, t(15;17) is found in most cases of acute promyelocytic leukemia (APML). Children with APML present with DIC.
- M3: Acute promyelocytic leukemia. Chromosome t(15;17). DIC
- Pt:
- Chloromas are a localized mass of leukemia cells and are often present at the time of diagnosis. For example, an orbital or epidural chloroma can be the 1st clue to the diagnosis.
- Dx: Bone marrow evaluation
- Bone marrow morphology, flow cytometry, and cytogenetics are used to classify AML
- Finding Auer rods inside peripheral blood blast cells is pathognomonic for AML
- Children with acute promyelocytic leukemia (APL; M3 subtype) represent a unique subset of AML pts who have excellent cure rates. These children receive retinoic acid in addition to chemotherapy - and do not undergo transplant.
5
Q
Chronic Myeloid Leukemia (CML)
- Disorder of pluripotent stem cell defined by the t(_____) translocation (____ chromosome). Causing a fusion gene that encodes for a _____ abnormal protein ______ that drives oncogenesis.
- Pt
- Initial chronic phase (2-4 years) of splenomegaly and extreme leukocytosis with complete granulocytic maturation. This chronic phase can evolve into an acute blast crisis that behaves as an aggressive acute leukemia.
- Tx: Most pts presenting in the chronic phase are treated initially with ________ such as ____ or ____.
A
Chronic Myeloid Leukemia (CML)
- Disorder of pluripotent stem cell defined by the t(9;22) translocation (Philadelphia chromosome). Causing a fusion gene that encodes for a BCR-ABL abnormal protein tyrosine kinase that drives oncogenesis.
- Pt
- Initial chronic phase (2-4 years) of splenomegaly and extreme leukocytosis with complete granulocytic maturation. This chronic phase can evolve into an acute blast crisis that behaves as an aggressive acute leukemia.
- Tx: Most pts presenting in the chronic phase are treated initially with tyrosine kinase inhibitors (TKIs) such as imatinib or dasatinib.
6
Q
LYMPHOMA
- Cancer of the lymphatic system, which includes lymph nodes, spleen, thymus, and bone marrow.
- Lymphomas are divided into 2 categories, Hodgkin lymphoma and non-Hodgkin lymphoma, depending on the microscopic appearance and characteristics of the malignant cells.
- Worrisome features:
- Systemic symptoms (eg fever, night sweats, weight loss)
- Fixed, nontender nodes
- Supraclavicular nodes
- Lymph nodes >___cm with no response to a 2-week course of antibiotics.
Biopsy should be considered with the following:
Size >__cm
Size increasing over __ weeks
No decrease in size of node after __weeks
Any supraclavicular lymph node
Any hard, matted, or rubbery lymph node
Lymphadenopathy associated with an abnormal chest radiograph suggestive of lymphoma
Lymphadenopathy associated with fever, weight loss, or hepatosplenomegaly
- Dx: ______ Lymph node or mass biopsy (NOT FNA)
A
LYMPHOMA
- Cancer of the lymphatic system, which includes lymph nodes, spleen, thymus, and bone marrow.
- Lymphomas are divided into 2 categories, Hodgkin lymphoma and non-Hodgkin lymphoma, depending on the microscopic appearance and characteristics of the malignant cells.
- Worrisome features:
- Systemic symptoms (eg fever, night sweats, weight loss)
- Fixed, nontender nodes
- Supraclavicular nodes
- Lymph nodes >2cm with no response to a 2-week course of antibiotics.
Biopsy should be considered with the following:
Size >2cm
Size increasing over 2 weeks
No decrease in size of node after 4 weeks
Any supraclavicular lymph node
Any hard, matted, or rubbery lymph node
Lymphadenopathy associated with an abnormal chest radiograph suggestive of lymphoma
Lymphadenopathy associated with fever, weight loss, or hepatosplenomegaly
- Dx: EXCISIONAL Lymph node or mass biopsy (NOT FNA)
7
Q
Hodgkin Lymphoma
- 3 typical age ranges for Hodgkin lymphoma:
- 1) Childhood (<14 yo) - mainly seen in poorer SES and has a predominant mixed cellularity histologic subtype
- 2) Young adult (15-34 yo) - most common form; predominantly nodular sclerosing histology
- 3) Older adult (55-74 yo)
- Defined by the presence of _____ cells, which are multinucleated/multilobulated large cells (looks like “owl’s eyes”) that divide rapidly and live longer than normal cells.
- Pt:
- Most common presentation is _________, which often involves the cervical or supraclavicular region.
- ⅓ of children have B (constitutional) symptoms, which include fever, drenching night sweats, and unexplained weight loss >10%
- An especially common infection is _______
- Itching and alcohol-induced pain (localized to areas involved in the disease; eg bones, lymph nodes) are also reported but are not prognostic.
- Diagnosis: Confirmed by _____ of an accessible lymph node. Staging is accomplished by a combination of the radiographic techniques noted below.
- Therapy: The combination of ____ and ____ was found to improve treatment outcomes compared to radiation alone.
- The long-term side effects of radiation therapy, depending on the field of radiation, include growth retardation, thyroid failure, early ____ disease, ____ fibrosis, and increased risk of secondary malignancies, including breast cancer.
- Among childhood cancer survivors, female patients with a history of Hodgkin lymphoma who were treated with chest irradiation are at greatest risk for developing ____ later in life.
- The long-term side effects of radiation therapy, depending on the field of radiation, include growth retardation, thyroid failure, early ____ disease, ____ fibrosis, and increased risk of secondary malignancies, including breast cancer.
A
Hodgkin Lymphoma
- 3 typical age ranges for Hodgkin lymphoma:
- 1) Childhood (<14 yo) - mainly seen in poorer SES and has a predominant mixed cellularity histologic subtype
- 2) Young adult (15-34 yo) - most common form; predominantly nodular sclerosing histology
- 3) Older adult (55-74 yo)
- Defined by the presence of Reed-Sternberg cells, which are multinucleated/multilobulated large cells (looks like “owl’s eyes”) that divide rapidly and live longer than normal cells.
- Pt:
- Most common presentation is asymptomatic lymphadenopathy, which often involves the cervical or supraclavicular region.
- ⅓ of children have B (constitutional) symptoms, which include fever, drenching night sweats, and unexplained weight loss >10%
- An especially common infection is varicella zoster.
- Itching and alcohol-induced pain (localized to areas involved in the disease; eg bones, lymph nodes) are also reported but are not prognostic.
- Diagnosis: Confirmed by excisional biopsy of an accessible lymph node. Staging is accomplished by a combination of the radiographic techniques noted below.
- Therapy: The combination of chemotherapy and radiation was found to improve treatment outcomes compared to radiation alone.
- The long-term side effects of radiation therapy, depending on the field of radiation, include growth retardation, thyroid failure, early coronary artery disease, pulmonary fibrosis, and increased risk of secondary malignancies, including breast cancer.
- Among childhood cancer survivors, female patients with a history of Hodgkin lymphoma who were treated with chest irradiation are at greatest risk for developing breast cancer later in life.
- The long-term side effects of radiation therapy, depending on the field of radiation, include growth retardation, thyroid failure, early coronary artery disease, pulmonary fibrosis, and increased risk of secondary malignancies, including breast cancer.
8
Q
Non-Hodgkin Lymphoma (NHL)
- Most common type of lymphoma to occur in pediatrics (NHL 60% vs Hodgkin lymphoma 40%)
- 3 histologic types:
- 1) Burkitt lymphoma (most common form of NHL)
- 90% of Burkitt-type lymphomas originate from mature ___ cells in ____ within the ___, most commonly at the ____ junction.
- Only 10% of US cases begin in the B lymphocytes within the _____
- Pt:
- Majority present with abdominal mass or pain with nausea and vomiting.
- Jaw involvement is very common in the African form but occurs in only about 15% of US cases.
- Burkitt lymphoma is the fastest growing malignant tumor - it can double in 2-3 days! Consequently, tumor lysis syndrome is common
- ____ DNA is present in the tumor cells of 95% of endemic cases in equatorial Africa, but is found in only 15-20% of US cases.
- Especially high risk for ______
- 2) Lymphoblastic lymphoma (33% of NHLs)
- 3) Large cell non-hodgkin lymphoma (T-cell, B-cell, or indeterminate-cell origin)
- Lymphadenopathy is usually tender, which separates it from the other lymphomas.
- 1) Burkitt lymphoma (most common form of NHL)
- Do NOT have Reed-Sternberg cells
- Tx:
- Multidrug chemotherapy regimen, with a typical regimen being CHOP (cyclophosphamide, doxorubicin (Hydroxydaunorubicin), vincristine (Oncovin), and prednisone).
- Rituximab, an anti-CD20 monoclonal antibody, is a treatment option for tumors that are positive for CD20.
- Pts with abdominal tumors that are resected at diagnosis have an excellent prognosis with short-course, postop chemotherapy.
- Radiation therapy is usually limited to CNS disease or emergency situations (airway obstruction).
- Prognosis: Most have a good prognosis, with >80% survival rate overall.
A
Non-Hodgkin Lymphoma (NHL)
- Most common type of lymphoma to occur in pediatrics (NHL 60% vs Hodgkin lymphoma 40%)
- 3 histologic types:
- 1) Burkitt lymphoma (most common form of NHL)
- 90% of Burkitt-type lymphomas originate from mature B cells in Peyer patches within the GI tract, most commonly at the ileocecal junction.
- Only 10% of US cases begin in the B lymphocytes within the Waldeyer ring (adenoids/tonsils).
- Pt:
- Majority present with abdominal mass or pain with nausea and vomiting.
- Jaw involvement is very common in the African form but occurs in only about 15% of US cases.
- Burkitt lymphoma is the fastest growing malignant tumor - it can double in 2-3 days! Consequently, tumor lysis syndrome is common
- EBV DNA is present in the tumor cells of 95% of endemic cases in equatorial Africa, but is found in only 15-20% of US cases.
- Especially high risk for tumor lysis syndrome!
- 2) Lymphoblastic lymphoma (33% of NHLs)
- 3) Large cell non-hodgkin lymphoma (T-cell, B-cell, or indeterminate-cell origin)
- Lymphadenopathy is usually tender, which separates it from the other lymphomas.
- 1) Burkitt lymphoma (most common form of NHL)
- Do NOT have Reed-Sternberg cells
- Tx:
- Multidrug chemotherapy regimen, with a typical regimen being CHOP (cyclophosphamide, doxorubicin (Hydroxydaunorubicin), vincristine (Oncovin), and prednisone).
- Rituximab, an anti-CD20 monoclonal antibody, is a treatment option for tumors that are positive for CD20.
- Pts with abdominal tumors that are resected at diagnosis have an excellent prognosis with short-course, postop chemotherapy.
- Radiation therapy is usually limited to CNS disease or emergency situations (airway obstruction).
- Prognosis: Most have a good prognosis, with >80% survival rate overall.
9
Q
BRAIN TUMORS
- Clinical triad: Early morning vomiting/nausea, headache, and gait imbalance suggests increased intracranial pressure due to a posterior fossa brain tumor
- Developmental delay and motor abnormalities
- Infratentorial lesions
- Cerebellar hemisphere tumors usually present initially with lateralizing signs, such as limb dysmetria, rather than increased ICP.
- New head tilt or torticollis can also be seen when there is tumor in posterior fossa
- Ddx for posterior fossa tumors in children 0-4yo include, listed by decreasing frequency:
- Medulloblastoma - most common malignant primary brain tumor in childhood, peak incidence from 5-9 yo; 2nd most common posterior fossa tumor
- Juvenile pilocytic astrocytoma - most common brain tumor and posterior fossa tumor
- Ependymoma
- Atypical teratoid rhabdoid tumor
- Brainstem gliomas
- Supratentorial Lesion presentation (in brain structures above the cerebellum)
- Commonly present with headaches, weakness, and seizures.
- Tumors of the “silent area” of the cerebral cortex (the frontal and parietal lobes) rarely cause any symptoms
- Parinaud syndrome is a triad of impaired upward gaze, dilated pupils with better reactivity to accommodation than to light, and retraction or conversion nystagmus with lid retraction. It is caused by compression or infiltration of the midbrain tectum, particularly with pineal tumors.
- Dx:
- MRI has replaced CT scan as the modality of choice for diagnosis of brain tumors. Biopsy is required for histologic confirmation and to determine therapy, which is usually done with tumor resection surgery
- Tx: Surgical resection is the mainstay of therapy for most tumors of the CNS
A
BRAIN TUMORS
- Clinical triad: Early morning vomiting/nausea, headache, and gait imbalance suggests increased intracranial pressure due to a posterior fossa brain tumor
- Developmental delay and motor abnormalities
- Infratentorial lesions
- Cerebellar hemisphere tumors usually present initially with lateralizing signs, such as limb dysmetria, rather than increased ICP.
- New head tilt or torticollis can also be seen when there is tumor in posterior fossa
- Ddx for posterior fossa tumors in children 0-4yo include, listed by decreasing frequency:
- Medulloblastoma - most common malignant primary brain tumor in childhood, peak incidence from 5-9 yo; 2nd most common posterior fossa tumor
- Juvenile pilocytic astrocytoma - most common brain tumor and posterior fossa tumor
- Ependymoma
- Atypical teratoid rhabdoid tumor
- Brainstem gliomas
- Supratentorial Lesion presentation (in brain structures above the cerebellum)
- Commonly present with headaches, weakness, and seizures.
- Tumors of the “silent area” of the cerebral cortex (the frontal and parietal lobes) rarely cause any symptoms
- Parinaud syndrome is a triad of impaired upward gaze, dilated pupils with better reactivity to accommodation than to light, and retraction or conversion nystagmus with lid retraction. It is caused by compression or infiltration of the midbrain tectum, particularly with pineal tumors.
- Dx:
- MRI has replaced CT scan as the modality of choice for diagnosis of brain tumors. Biopsy is required for histologic confirmation and to determine therapy, which is usually done with tumor resection surgery
- Tx: Surgical resection is the mainstay of therapy for most tumors of the CNS
10
Q
Meningiomas
- Rare in children except in those with neurofibromatosis Type 2
A
Meningiomas
- Rare in children except in those with neurofibromatosis Type 2
11
Q
The most common diagnoses for a prenatally identified adrenal mass include adrenal hemorrhage and perinatal neuroblastoma.
A
The most common diagnoses for a prenatally identified adrenal mass include adrenal hemorrhage and perinatal neuroblastoma.
12
Q
Neuroblastoma (2nd most common, 650-700/year US)
- Most common malignancy in _____ (that presents in the 1st month of life)
- Most common malignant abdominal tumor of childhood.
- Most common extracranial solid tumor in children
- Tumor arises from neural crest cells, which are precursor cells of sympathetic chain and adrenal medulla
- Pt:
- Nontender abdominal mass (____ cross midline) typically retroperitoneal but can be neck mass
- 1 year of life and crosses midline. Often the sick kid with a mass
- Located in the high thoracic and cervical area can cause _______ (unilateral ptosis, miosis, anhidrosis)
- ______ syndrome (dancing eyes-dancing feet syndrome) occurs in about 5% of newly diagnosed neuroblastoma pts.
- As a presenting symptom, it warrants a workup for neuroblastoma.
- Most neuroblastomas have metastasized before diagnosis.
- ________ due to orbital metastases (must be distinguished from trauma/child abuse)
- Paraneoplastic syndromes can occur but are not that common.
- Look for intractable secretory diarrhea and abdominal distention due to secretion of vasoactive intestinal peptide (VIP). The VIP syndrome occurs with ganglioneuroblastoma or ganglioneuroma and resolves with removal of the tumor.
- 2/3 arise in abdomen (shows _______ on CT- DIFFERENT FROM WILMS) (adrenal gland or ganglia). Also can be found in posterior thorax
- Dx:
- Diagnosis requires biopsy with histologic evidence of neural origin of the tumor
- An increased level of catecholamine metabolites in the_____ is often found at diagnosis.
- Better prognosis: Child’s age at diagnosis - best prognosis is for ______
A
Neuroblastoma (2nd most common, 650-700/year US)
- Most common malignancy in infancy (that presents in the 1st month of life)
- Most common malignant abdominal tumor of childhood.
- Most common extracranial solid tumor in children
- Tumor arises from neural crest cells, which are precursor cells of sympathetic chain and adrenal medulla
- Pt:
- Nontender abdominal mass (able to cross midline) typically retroperitoneal but can be neck mass
- 1 year of life and crosses midline. Often the sick kid with a mass
- Located in the high thoracic and cervical area can cause Horner’s syndrome (unilateral ptosis, miosis, anhidrosis)
- Opsoclonus-myoclonus-ataxia syndrome (dancing eyes-dancing feet syndrome) occurs in about 5% of newly diagnosed neuroblastoma pts.
- As a presenting symptom, it warrants a workup for neuroblastoma.
- Most neuroblastomas have metastasized before diagnosis.
- Racoon eyes / Periorbital ecchymosis due to orbital metastases (must be distinguished from trauma/child abuse)
- Paraneoplastic syndromes can occur but are not that common.
- Look for intractable secretory diarrhea and abdominal distention due to secretion of vasoactive intestinal peptide (VIP). The VIP syndrome occurs with ganglioneuroblastoma or ganglioneuroma and resolves with removal of the tumor.
- 2/3 arise in abdomen (shows calcifications on CT- DIFFERENT FROM WILMS) (adrenal gland or ganglia). Also can be found in posterior thorax
- Dx:
- Diagnosis requires biopsy with histologic evidence of neural origin of the tumor
- An increased level of catecholamine metabolites in the urine (HVA and VMA (homovanillic acid and vanillylmandelic acid) is often found at diagnosis.
- Better prognosis: Child’s age at diagnosis - best prognosis is for <18 months
13
Q
Wilm’s Tumor / Nephroblastoma
- Epidemiology: Most common renal malignancy in childhood, accounting for >95% of cases. Second common abdominal malignancy in children (after neuroblastoma)
- Path: Thought to arise from metanephric blastema, embryonic precursor of renal parenchyma (primordial cells of the fetal kidney), as these cells are commonly found in Wilms’ tumor and rarely in normal kidneys.
- Pt: The well kid with _____ and a mass
- Most children are asymptomatic on initial presentation and are brought in to their pediatrician bc a parent notices an abdominal mass.
- Asymptomatic, firm, smooth nontender unilateral abdominal mass that _____cross midline
- HTN occurs in about 25% of pts and is due to renal ischemia from tumor impingement of the renal artery.
- May have hematuria (microscopic or gross), low-grade fever, anorexia, weight loss.
- Association with other anomalies/syndromes in up to 7% of patients: ___ (Wilms tumor, Aniridia, genitourinary anomalies, intellectual disability), ____, ____
- Denys-Drash: Early-onset renal failure/nephropathy, male pseudohermaphroditism (male undervirilization, ambiguous genitalia), and Wilms tumor (>90% risk)
- Beckwith-Wiedemann syndrome (See “Beckwith-Wiedemann”): Organomegaly, large birth weight, macroglossia, omphalocele, hemihypertrophy, ear pits/creases, neonatal hypoglycemia.
- Should screen for Wilms with abd ultrasound q3mo until 7-8yo.
- Dx: Confirm by biopsy.
- Tx:
- Tumor excision of nephrectomy with chemotherapy +/- radiation therapy for advanced disease
- For unilateral disease, nephrectomy with removal of the primary tumor is the mainstay of therapy.
- In bilateral disease (Stage 5), a renal biopsy of each kidney determines the histologic stage and appropriate chemotherapy; and, typically, bilateral parenchymal-sparing resection is performed.
A
Wilm’s Tumor / Nephroblastoma
- Epidemiology: Most common renal malignancy in childhood, accounting for >95% of cases. Second common abdominal malignancy in children (after neuroblastoma)
- Path: Thought to arise from metanephric blastema, embryonic precursor of renal parenchyma (primordial cells of the fetal kidney), as these cells are commonly found in Wilms’ tumor and rarely in normal kidneys.
- Pt: The well kid with HTN and a mass
- Most children are asymptomatic on initial presentation and are brought in to their pediatrician bc a parent notices an abdominal mass.
- Asymptomatic, firm, smooth nontender unilateral abdominal mass that does not cross midline
- HTN occurs in about 25% of pts and is due to renal ischemia from tumor impingement of the renal artery.
- May have hematuria (microscopic or gross), low-grade fever, anorexia, weight loss.
- Association with other anomalies/syndromes in up to 7% of patients: WAGR (Wilms tumor, Aniridia, genitourinary anomalies, intellectual disability), Beckwith-Wiedemann Syndrome, Denys-Drash syndrome
- Denys-Drash: Early-onset renal failure/nephropathy, male pseudohermaphroditism (male undervirilization, ambiguous genitalia), and Wilms tumor (>90% risk)
- Beckwith-Wiedemann syndrome (See “Beckwith-Wiedemann”): Organomegaly, large birth weight, macroglossia, omphalocele, hemihypertrophy, ear pits/creases, neonatal hypoglycemia.
- Should screen for Wilms with abd ultrasound q3mo until 7-8yo.
- Dx: Confirm by biopsy.
- Tx:
- Tumor excision of nephrectomy with chemotherapy +/- radiation therapy for advanced disease
- For unilateral disease, nephrectomy with removal of the primary tumor is the mainstay of therapy.
- In bilateral disease (Stage 5), a renal biopsy of each kidney determines the histologic stage and appropriate chemotherapy; and, typically, bilateral parenchymal-sparing resection is performed.
14
Q
SOFT TISSUE TUMORS
Rhabdomyosarcomas
- Most common soft tissue tumors of childhood.
- Pt:
- Most common presentation is a mass lesion. The head and neck are the most common sites
- Orbital involvement will often present with non-tender mass that has progressively increased in size.
- Most common presentation is a mass lesion. The head and neck are the most common sites
- Tx:
- Chemotherapy is indicated for all children with rhabdomyosarcoma. The standard regimen for low- and intermediate-risk disease is VAC: vincristine, actinomycin D, and high-dose cyclophosphamide.
A
SOFT TISSUE TUMORS
Rhabdomyosarcomas
- Most common soft tissue tumors of childhood.
- Pt:
- Most common presentation is a mass lesion. The head and neck are the most common sites
- Orbital involvement will often present with non-tender mass that has progressively increased in size.
- Most common presentation is a mass lesion. The head and neck are the most common sites
- Tx:
- Chemotherapy is indicated for all children with rhabdomyosarcoma. The standard regimen for low- and intermediate-risk disease is VAC: vincristine, actinomycin D, and high-dose cyclophosphamide.
15
Q
RETINOBLASTOMA
- More common intraocular tumor of childhood.
- Path: Requires 2 mutational “hits” for tumor development to occur.
- Hereditary retinoblastoma occurs when there is a germline mutation of one of the RB1 alleles and a somatic event silencing the other.
- Despite having pathophysiology resembling an _____disease (development of RB requires inactivation of both copies of RB1), most germline RB1 mutations have a penetrance of approx 90%, meaning that hereditary retinoblastoma behaves in a manner approx an ____ Mendelian disease.
- When mother is carrier of abnormal RB1 allele, there is 50% chance that neonate inherited abnormal allele. As germline mutations are approx 90% penetrant, the chance of developing retinoblastoma = (chance of inheriting the abnormal allele) x penetrance = 0.5 x 0.9 = 0.45.
- Despite having pathophysiology resembling an _____disease (development of RB requires inactivation of both copies of RB1), most germline RB1 mutations have a penetrance of approx 90%, meaning that hereditary retinoblastoma behaves in a manner approx an ____ Mendelian disease.
- Hereditary retinoblastoma occurs when there is a germline mutation of one of the RB1 alleles and a somatic event silencing the other.
- Pt:
- Classically presents with a white, pupillary reflex (Leukoria).
- However, in some children, strabismus is the initial presenting complaint.
- Tx:
- Aimed at cure, with preservation of vision is possible.
- Unilateral disease can be tx with enucleation if there is no chance for successful vision.
- Bilateral disease is initially tx with chemotherapy in an attempt to preserve vision.
- Prognosis:
- Children with germ line RB1 mutations are at very high risk for developing secondary malignancies such as osteosarcoma or soft tissue sarcomas or malignant melanoma
A
RETINOBLASTOMA
- More common intraocular tumor of childhood.
- Path: Requires 2 mutational “hits” for tumor development to occur.
- Hereditary retinoblastoma occurs when there is a germline mutation of one of the RB1 alleles and a somatic event silencing the other.
- Despite having pathophysiology resembling an autosomal recessive disease (development of RB requires inactivation of both copies of RB1), most germline RB1 mutations have a penetrance of approx 90%, meaning that hereditary retinoblastoma behaves in a manner approx an autosomal dominant Mendelian disease.
- When mother is carrier of abnormal RB1 allele, there is 50% chance that neonate inherited abnormal allele. As germline mutations are approx 90% penetrant, the chance of developing retinoblastoma = (chance of inheriting the abnormal allele) x penetrance = 0.5 x 0.9 = 0.45.
- Despite having pathophysiology resembling an autosomal recessive disease (development of RB requires inactivation of both copies of RB1), most germline RB1 mutations have a penetrance of approx 90%, meaning that hereditary retinoblastoma behaves in a manner approx an autosomal dominant Mendelian disease.
- Hereditary retinoblastoma occurs when there is a germline mutation of one of the RB1 alleles and a somatic event silencing the other.
- Pt:
- Classically presents with a white, pupillary reflex (Leukoria).
- However, in some children, strabismus is the initial presenting complaint.
- Tx:
- Aimed at cure, with preservation of vision is possible.
- Unilateral disease can be tx with enucleation if there is no chance for successful vision.
- Bilateral disease is initially tx with chemotherapy in an attempt to preserve vision.
- Prognosis:
- Children with germ line RB1 mutations are at very high risk for developing secondary malignancies such as osteosarcoma or soft tissue sarcomas or malignant melanoma
