240b cancer genetic syndromes Flashcards Preview

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Flashcards in 240b cancer genetic syndromes Deck (10):
1

Juvenile Polyposis Syndrome - presentation? risk?

multiple juvenile polyps in GI tract, ^ risk of adenocarcinoma.

2

Peutz-Jeghers syndrome

autosomal dominant syndrome featuring multiple nonmalignant hamartomas throughout GI tract, along with hyperpigmented mouth, lips, hands, genitalia. Associated with ^ risk of CRC and other visceral malignancies.

3

Familial adenomatous polyposis (FAP)

autosomal dominant mutation of APC gene on
chromosome 5q. 2-hit hypothesis. 100% progress to CRC unless colon is resected. Thousands of
polyps arise starting at a young age; pancolonic; always involves rectum.

4

Gardner syndrome

FAP + osseous and soft tissue tumors, congenital hypertrophy of retinal pigment epithelium.

5

Hereditary nonpolyposis colorectal cancer (HNPCC/Lynch syndrome)

autosomal dominant mutation of DNA mismatch repair genes. ~ 80% progress to CRC. Proximal colon is always involved.

6

Turcot syndrome

FAP + malignant CNS tumor. Turcot = Turban.

7

von Hippel-Lindau disease

Disorder characterized by development of numerous tumors, both benign and malignant. Associated with deletion of VHL gene (tumor suppressor) on chromosome 3 (3p) --> HIF constitutive expression --> angiogenic growth factors. AD. (Von Hippel-Lindau = 3 words for chromosome 3.)

Cavernous hemangiomas in skin, mucosa, organs; bilateral renal cell carcinomas; hemangioblastoma (high vascularity with hyperchromatic nuclei) in retina, brain stem, cerebellum; and pheochromocytomas.

8

MEN 1

MEN 1 = 3 P’s (from cephalad to caudad:
Pituitary, Parathyroid, and Pancreas;
remember by drawing a diamond).

pituitary tumor = GH, prolactin
Pancreas tumor = ZES, insulinomas, VIPomas

presents with kidney stones and stomach ulcers

9

MEN 2A

MEN 2A = 2 P’s (Parathyroids and
Pheochromocytoma; remember by drawing a
square).
+
Medullary thyroid carcinoma - secretes calcitonin

mutation in germline RET (neural crest cells)

10

MEN 2B

MEN 2B = 1 P (Pheochromocytoma;
remember by drawing a triangle w/ oral at top).
+
Medullary thyroid carcinoma secreting calcitonin
oral/intestinal ganglioneuromatosis

associated with marfanoid habitus

mutation in germline RET (neural crest cells)