Tumor/Pathology Flashcards
Multiple hereditary exostosis has increased risk of which malignancy?
Secondary Chondrosarcoma in area of prior exostosis
Mafucci’s syndrome is associated with what?
Hemangiomas
Ollier’s disease pts have what
Multiple enchondromas
Gardner’s syndrome is associated with what?
Extra-abdominal desmoid tumors
Von Recklinghausen’s disease is associated with what?
Plexiform neurofibromas
Tumors that metastasize to lymph nodes
ESARC
- epithelioid sarcoma
- synovial sarcoma
- angiosarcoma
- rhabdomyosarcoma
- clear cell sarcoma
Multiple myeloma histology
- sheets of plasma cells w/ eccentric nuclei (small round blue cells)
- coarsely clumped nuclear chromatin
- perinuclear halo
Carcinoma metastasis histology
-nests of epithelial cells in fibrous background
Fibrous dysplasia histology
-irregular bony trabecula without rimming osteoblasts
Chondrosarcoma
- On radiograph, chondrosarcoma is a fusiform, lucent defect with scalloping of the inner cortex (endosteal scalloping) and periosteal reaction. Extension into the soft tissue may be present, as well as punctate or stippled calcification of the cartilage matrix.
- Histologically, chondrosarcoma is differentiated from benign cartilage tumors by enlarged plump nuclei, multiple cells per lacunae, binucleated cells, and hyperchromic nuclear pleomorphism.
- Treatment of most chondrosarcomas is surgery only because adjuvant treatments are not effective.
Fibrous dysplasia
Fibrous dysplasia is a common benign skeletal lesion that may involve 1 bone (monostotic) or multiple bones (polyostotic) and occurs throughout the skeleton with a predilection for the long bones. The radiographic features of fibrous dysplasia typically illustrate a grayish “ground-glass” pattern that is similar to the density of cancellous bone. The key histologic features of fibrous dysplasia are trabeculae of immature bone, with no osteoblastic rimming, contained within a bland fibrous stroma of dysplastic spindle-shaped cells without any cellular features of malignancy. The etiology of fibrous dysplasia has been linked to an activating mutation in the gene that encodes the α subunit of stimulatory G protein located at 20q13.2-13.3. This leads to a constitutive activation of adenylate cyclase and increased cyclic adenosine monophosphate formation.
FGFR3 mutation
Achondroplasia
COMP mutation
- pseudo achondroplasia
- multiple epiphyseal dysplasia
EXT-1 mutation
-multiple hereditary exostosis
Biopsy of the proximal humerus
A biopsy of the proximal humerus should be performed through the anterior third of the deltoid. A biopsy should be performed through a single compartment and be incorporated with an extensile approach because the biopsy tract will be resected with the tumor if it is a sarcoma. Performing a biopsy through the deltopectoral interval will contaminate more than 1 compartment.
Staging of sarcomas
-Staging of sarcomas is important to help predict prognosis. Not all sarcomas are reliably positive on a PET scan, so the preferred staging studies are CT scan of the chest and whole-body bone scan. Hematogenous spread of sarcomas is the most common route of metastatic disease, which speaks to the value of chest CT scans. Clear-cell sarcomas (in addition to synovial sarcoma, angiosarcoma, epithelioid sarcoma, and rhabdomyosarcoma) tend to involve lymphatic nodal metastatic disease, so sentinel node biopsy is considered when assessing these tumors. Evidence supports efficacy of sentinel node biopsy for clear-cell sarcomas in particular.
Features concerning for soft-tissue sarcoma
-For patients with rapidly enlarging painless masses, particularly those that are either large or deep, the diagnosis of a soft-tissue sarcoma should be entertained. Masses exceeding 5 cm in largest dimension that are subfascial and heterogenous on MRI are concerning. MRI with and without contrast is the preferred imaging modality for evaluation of soft-tissue sarcomas because it can delineate location of the lesion, involvement of neurovascular structures, intra-articular involvement, and underlying signal alteration in the osseous structures. Most patients can relate the onset of their symptoms to a traumatic event, and the interpretation of an MRI may include a hematoma.
Typical tx for giant cell tumor of bone?
Intralesional curettage w/ adjuvants
Adjuvant therapy for recurrent giant cell tumor of bone?
-Denosumab
Aggressive fibromatosis/Desmoid tumor has been associated with Gardner syndrome and familial adenomatous polyposis. This patient is at high risk for colon cancer. Gardner syndrome is associated with osteomas, epidermal cysts, periampullary carcinomas, lipomas, and dental abnormalities in addition to desmoid tumors.
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extra-abdominal fibromatosis/desmoid tumor
Aggressive fibromatosis has been associated with Gardner syndrome and familial adenomatous polyposis. This patient is at high risk for colon cancer. Gardner syndrome is associated with osteomas, epidermal cysts, periampullary carcinomas, lipomas, and dental abnormalities in addition to desmoid tumors.
Ringed chromosomes and expression of MDM2, but do NOT have 12;16 translocation are typical of what?
Atypical lipomatous tumor (well-differentiated Liposarcoma)
12;16 translocation in lipomatous mass is consistent w/ what diagnosis?
Myxoid Liposarcoma
Achondroplasia
Achondroplasia is caused by the arginine-to-glycine amino acid substitution in the FGF-3 receptor gene and is characterized by rhizomelic limb shortening with normal trunk length attributable to inhibition of chondrocyte proliferation in the physis. Associated findings include macrocephaly, midface hypoplasia, trident hands, genu varum, and early gross motor delays that usually normalize with time. People with achondroplasia also can have foramen magnum stenosis with cervicomedullary spinal cord compression and diminished respiratory drive; the incidence of sudden infant death in this population is 2% to 5% and is thought to be attributable to the combination of central sleep apnea, tonsillar hypertrophy, and midface hypoplasia. Other signs of foramen magnum stenosis include swallowing difficulties and hyperreflexia. The American Academy of Pediatrics recommends neuroimaging of the craniocervical junction and polysomnography for infants with achondroplasia and suspected foramen magnum stenosis. Achondroplasia is not directly associated with neonatal cardiac abnormalities.
Translocation associated w/ Ewing’s sarcoma
T(11;22)
Synovial sarcoma associated gene
SYT
Multiple hereditary exostosis associated gene
EXT1
Ewing sarcoma associated gene
EWS
Osteogenesis imperfecta associated gene
COL1A
tenosynovial giant cell tumor
aka PVNS
- characterized by an overexpression of CSF1. CSF1R activation leads to recruitment of CSF1R-expressing cells of the mononuclear phagocyte lineage.
The characteristic histologic finding in synovial chondromatosis is what?
SYNOVIAL METAPLASIA (the cartilaginous change of the synovial membrane)
chondrocyte cloning is found in what?
chondrosarcoma
Cords of eosinophilic cell in myxoid stroma are characteristic for what?
extraskeletal chondrosarcoma
Atraumatic vertebra plana in a young child is most commonly the result of a pathologic compression fracture through a lesion of what?
Langerhans cell histiocytosis (LCH).
Ewing’s sarcoma is treated by what?
Radiotherapy, Chemotherapy, and wide resection
how is adamantinoma treated?
surgery alone
Paget’s disease of bone
osteoclastic abnormality marked by focally increased skeletal remodeling within the axial or appendicular skeleton. There is an initial wave of osteoclast-mediated bone resorption, followed by the second phase of disorganized skeletal repair. This process leads to excessively disorganized woven bone and lamellar bone, characterized by osteosclerosis and hyperostosis, respectively, and results in the characteristic findings of cement lines seen histologically. The disorganized bone is weaker and prone to fractures. The final phase of the disease is the quiescent phase in which there is little bone turnover. Because of the increased bone remodeling, there is usually an associated increased vascularity which should be taken in account when surgery is performed. There is no bony replacement of the bone marrow.
Myxoid liposarcoma
- translocation t(12;16)
- In addition to posing risk for pulmonary metastases, myxoid liposarcomas have an unusual predilection for extrapulmonary metastases. Most notable are bone metastases, particularly involving the spine. Sarcoma metastases to the brain or liver are relatively uncommon and typically are late findings. Lymph node metastases have been reported in about 2.6% of soft-tissue sarcomas, but they are more common in histologic subtypes including angiosarcoma, rhabdomyosarcoma, clear-cell sarcoma, epithelioid sarcoma, and synovial sarcoma. However, for myxoid liposarcoma, nodal metastases remain uncommon.
osteoblastoma
The combination of immature woven bone with osteoblastic rimming surrounded by a vascular fibrous bland stroma seen in Figure 9 and scattered giant cells within the lesion seen in Figure 8 should arouse suspicion for osteoblastoma. Osteoblastoma most often is diagnosed in adolescents and young adults, with 75% of patients younger than 25 years of age at diagnosis. Within tubular bones, osteoblastoma most often arises in the metadiaphyseal region, but it is more commonly seen in the spine within the posterior elements and flat bones. The lesion is well defined on radiographs, with lucent to mixed-lucent and blastic areas. MR imaging findings reveal low to intermediate–signal intensity on T1-weighted images and intermediate to high–signal intensity on T2-weighted images.
characteristic translocation of synovial sarcoma?
t(X;18)
Clear cell chondrosarcoma
Clear-cell chondrosarcoma is a rare, slow-growing, low-grade malignancy that typically involves the epiphysis of long bones. The tumor is lytic, and the proximal femur is the most common location. Chemotherapy and radiation are not used because the tumor is low grade. Placement of a nail would result in an intralesional resection and pose risk for both local recurrence and metastatic disease. When treated appropriately with a wide resection, surgery alone usually is curative.
Tx of lipomatous tumors
- Intramuscular lipomas and atypical lipomatous tumors are treated with marginal resection alone.
- Surgical treatment of a high-grade sarcoma involves wide surgical resection. Radiation decreases local recurrence but does not clearly influence overall survival. The role of chemotherapy in high-grade soft-tissue sarcomas remains investigational; there is a modest (8%-15%) associated improvement in overall survival.
- Radiation therapy for soft-tissue sarcomas may be given before or after surgery. When administered before surgery, patients have a higher wound complication rate but better long-term function attributable to lower rates of lymphedema, fibrosis, and contractures (lower dose given compared to post-op radiation).
