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Syndromes Flashcards

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1
Q

What are MDS syndromes?

A

MDS syndromes are irreversible disease of bone marrow stem cells that lead to ineffective and disorderly hematopoiesis characterized by abnormal division, maturation, and production of erythrocytes, granulocytes, monocytes and platelets

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2
Q

At what age are MDS syndromes typically diagnosed?

Sex predilection?

A

60 and 75

Males > females

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3
Q

Symptoms of MDS?

A

Fatigue

Weakness

Malaise

Infections (neutropenia)

Bleeding (thrombocytopenia)

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4
Q

Patients that present with splenomegaly may also have what underlying condition?

A

CMML

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5
Q

Name 4 MDS with refractory in the name?

A

Refractory anemia

Refractory anemia with ring sideroblasts (RARS)

Refractory cytopenia with multilineage dysplasia (RCMD)

Refractory anemia with excess blasts (RAEB)

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6
Q

Name 4 additional MDS syndromes begining with 5q-

A

5q-syndrome

Therapy-related MDS and therapy-related AML

MDS, unclassifiable

CMML

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7
Q

Gastrinoma (pancreas, duodenum, stomach or upper jejunum)

Massive gastric acid-hypersecretion with elevated basal serum gastrin levels (above 200 pmol/L)

Peptic ulceration; ulcers frequently multiple and occur in unusual site

A

Zollinger-Ellison Syndrome

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8
Q

HAD neurocutaneous syndrome characterized by hemangioblastomas (cerebellar and retinal), visceral cysts and tumors

A

von Hippel-Lindau

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9
Q

What is chromosomal mutation of vHL syndrome?

A

Mutations on chromosome 3p25-26 encodes pVHC protein that forms complex with tumor suppressor function

vHL abbreviated with 3 letters for chromosome 3

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10
Q

Name two papillary associations with vHL

A

Endolymphatic sac tumor (aggressive papillary middle-ear tumor)

Epididymis (papillary cystadenoma)

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11
Q

Name 4 other tumors associated with vHL?

NPRA

A

Neurofibroma

Pheo

RCC

Angiomyolipoma

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12
Q

HAD neurocutaneous syndrome characterized by cutaneous and neurological manifestations (mental retardation and seizures) and tumors?

A

Tuberous Sclerosis

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13
Q

What are mutations of TSC?

A

Mutations in either chromosome

9q34 (TSC1)

16p13 (TSC2)

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14
Q

What are cutaneous manifestations of TSC?

A

Angiomas

Adenoma sebaceum

A sh-leaf spots

Shagreen patches

Cafe-au-lait spots

Fibromas (trunk, gingivae, periungual region, hairline and eyebrows)

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15
Q

What are neurologic manifestations?

A

Neurologic manifestations:

Seizures

Mental retardation

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16
Q

Capillary-venous lesions on face (port-wine stain), a special type of nevus flammeus, always include portion innervated by ophthalmic division of trigenimal nerve and leptomeninges

What Syndrome?

A

Sturge-Weber

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17
Q

What is the spinal counterpart associated with limb enlargement called?

A

Klippel-Trenaunay-Weber

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18
Q

What is the chromosome for NF II

A

22q12

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19
Q

What is the protein of NFII

A

Merlin

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20
Q

Bilaterla 8th cranial nerve (vestibular branch of acoustic nerve) schwannomas are diagnostic of?

21
Q

Other things associated with NF II

Study These Flashcards
A

Unilateral 8th cranial nerve schwannoma and any 2 of the following:

Neurofibroma

Meningioma

Glioma

Schwannoma

Juvenile posterior subcapsular lenticular opacity/juvenile cortical cataract

NF II associated central nervous system lesions:

Multiple glial microharmartomas

Spinal cord cellular ependymal ectopias

Syringomelia

22
Q

What syndrome is characterized by the following?

6 or more cafe-au-lait macules over 5 mm in greates diameter in a prepubertal patient, and over 15 mm in greatest diameter in a postpubertal individual

2 or more neurofibromas of any type or 1 plexiform neurofibroma

Presence of freckles in the axillary or inguinal region

Optic glioma (tumor of optic pathway)

2 or more Lisch nodules (benign pigmented iris hamartomas)

An osseous lesion such as a sphenoid dysplasia or thinning of long bone cortex with or without pseudoarthrosis

23
Q

What is the chromosome of NF I

24
Q

What is the protein lost in NF I

Study These Flashcards
A

Neurofibromin

25
What are some NF I associated tumors?
NF-1 associated tumors: Bilateral pheochromocytoma Angiomyolipoma RMS Duodenal paraganglioma and carcinoid tumor Somatostinoma Ganglioneuroma Juvenile chronic myelogenous leukemia Juvenile xanthogranulomas Non-ossifying fibroma
26
What Syndrome? Germ line mutation in ret protooncogene, which is a tyrosine kinase receptor that is constitutively activated, causing a gain of function (chromosome 10q11) C cell hyperplasia, medullary carcinoma (bilateral) 100% Adrenal medullary hyperplasia, pheochromocytoma Parathyroid hyperplasia, adenoma Chief cell hyperplasia or multiglandular adenomas Conservative surgery to remove only the enlarged glands Cutaneous lichen amyloidosis (2nd to repeated scratching of neurological pruritis)
MEN IIA Sipple Syndrome Williams Syndrome
27
C cell hyperplasia —\> medullary carcinoma Adrenal medullary hyperplasia —\> pheo GI and ocular ganglioneuromas Marfanoid habitus Characteristic facies: Soft tissue prognathism Bumpy lips Broad base of nose Everted eyelids Low set ears Bowel dysfunction (diarrhea, constipation)
MEN IIB (III)
28
Encoded protein called menin that is a tumor suppressor (11q13) Parathyroid hyperplasia (15% present with 5 glands) Pancreatic (dysplasi and tumor) Pituitary adenomas Adrenocortical tumors Thyroid (adenomas) Bronchi (carcinoid tumors) Thymus (males) Stomach Subcutaneous (lipomas)
MEN 1 (Wermer Syndrome)
29
Mutation of GNAS 1 gene causes?
McCune-Albright Syndrome
30
What chromosome is GNAS1 located?
20q13
31
What are clinical manifestations of McCune Albright syndromes?
Polyostotic fibrous dysplasia Multiple endocrinopathies Sexual precocity Pituitary adenoma (acromegaly) Adrenocortical adenoma (Cushing) Hyperthyroidism Hyperparathyroidism Other reported abnormalities GI polyps, hyperplasia of spleen, thymus and pancreatic islets Hepatobiliary disease, cardiac disease, failure to thrive, metabolic acidosis, abnormalities in serum electrolites, glucose or insulin levels; hyperphosphaturic hypophosphatemia; malignant bone tumors’ benign bone tumors; developmental delay, microcephaly, sudden or premature death, mucoceles of head and neck, cutaneous pigmentation, intramuscular myxoma
32
Clinical manifestations of Mazabraud Syndrome
Polyostotic fibrous dysplasia Soft tissue (usually intramuscular) myxoma
33
SBLA syndrome (sarcoma, breast cancer, leukemia, and adrenocortical cancer) HAD ?
Li-Fraumeni
34
What is mutation and what chromosome of Li-Fraumeni Syndrome
Affected family members carry a p53 mutation located on chromosome 17p13 in all somatic cells
35
36
What are diagnostic considerations of Li-Fraumeni syndrome?
Diagnostic criteria: Occurrence of sarcoma before age 45 At least 1 1st degree relative with any cancer before 45 A 1st (or 2nd) degree relative with cancer before age 45 or sarcoma at any age
37
In a child, what tumor is almost diagnostic of Li-Fraumeni Syndrome?
Adrenocortical carcinoma
38
What syndrome is associated with: ## Footnote Skeletal anomalies, lamellar calcium deposition in the falx cerebri and diaphragma sellae Cutaneous epidermoid cysts Bifid ribs and vertebral anomalies Pits on the palms and sole Odontogenic keratocysts Calcifying ovarian fibromas Multifocal basal cell carcinomas occurring at an early age Medulloblastoma (usually develops before age of 5 and occurs in 3% to 5% of patients)
Gorlin Syndrome (NBCCS) Nevoid Basal Cell Carcinoma Syndrome
39
Where is the tumor suppresor gene associated with Gorlin syndrome located?
9q
40
A strong predisposition to medullary thyroid cancer without the other clinical manifestations of MEN IIA or MENIIB is called?
Familial Medullary-Thyroid Cancer
41
Medulloblastoma Mental and growth retardation Joint laxity Branchydactyly of 5th digit with hypoplasia/aplasia of nail bed
Coffin-Siris Syndrome
42
Gastric epithelial leiomyosarcoma Pulmonary chondroma Functioning extra-adrenal paraganglioma
Carney Triad
43
What is the HAD mutation in Carney Syndrome?
PRKAR1A type 1x regularoty subunit of a protein kinase that acts on a tumor suppressor gene on chromosome 17q22-24 in 50%
44
What are clinical manifestations of Carney Syndrome?
Myxomas: Cardiac, skin, breast Lentiginosis and blue nevi Endocrine tumors Large-cell calcifying Sertoli cell tumor Steroid-type tumor Pituitary adenoma Schwannomas especiallly psammomatous melanotic schwannomas
45
Hemihypertrophy Organomegaly Exophthalmos and macroglossia Omphalocele Increased risk of hepatoblastoma and rhabdomyosarcoma Renal pathology Predisposition to develop Wilms tumor Renal medullary cysts Mesoblastic nephroma Adrenal pathology Enlarged adrenal glands with cortical cytomegaly Adrenal cortical carcinoma Neuroblastoma Pancreatic pathology Pancreatic islet cell hyperplasia Pancreatoblastoma
Beckwith-Wiedemann Syndrome
46
What chromosome is affected in Beckwith-Wiedemann Syndrome
11p15
47
Characterized by cerebellar ataxia (hallmark of disease) Patients are unable to walk by the age of 10 Oculocutaneous telangiectasia Progeric skin changes Immune dysfunction Increased cancer susceptibility
Ataxia Telangiectasia
48
ATM gene is located on what chromosome?
11q22-23

Syndromes (1 decks)

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