cancer predisposition Flashcards by Katherine Lind

penetrance

of people with a pathogenic variant who develop cancer

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expressiviity

how many cancers a pathogenic variant can produce

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name 7 cancers that people with NF1 are st risk for BESIDES CNS tumors

MPNST, leukemia- especially JMML, neuroblastoma, GIST (GI stromal tumors), + duodenal carcinoid, plexiform neurofibromas, pheochromocytoma, embryonal rhabdomyosarcoma
(Nicks grants pay plenty more, really love)

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NF1 screening

eye exam at 6-8 months until age 8. only do Brain MRI if you have concerns or can’t asess vision

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NF2 screening

annual brain MRI starting at 10 and annual audiology evaluation

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when do NF2 patients usually get bilateral vestibular schwannomas

age 18-24, usually impact CN8

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intradermal schwannoma, retinal harmartoma, cotical wedge cataract is what syndrome

NF2

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which NF is iris hamartoma

NF1

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which NF is retinal hamartoma

NF2

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Nevoid basal cell carcinoma sydrome- aka and 2 genes

gorlin- PTCH1 or SUFU

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most common CNS tumor from SUFU problems is

desmoplastic nodular medulloblastoma in Nevoid basal cel carcinoma syndrome

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bifid ribs or wedge shaped vertebrae, macrocephaly, frontal bossing- what syndrome

nevoid cell carcinoma syndrome

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Von hippel lindau syndrome gene

VHL

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CNS tumor in VHL patients

hemangioblastoma and retinal angioma

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number 1 cause of death for VHL patients

renal cell carcinoma- in 70% of patients

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besides CNS and renal cell carcinoma, 2 other tumors to worry about in VHL

pheos, endodermal sinus tumor in ear

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4 genes in constitutional mismatch repair defect

MSH2, MSH6, MLH1, and PMS2

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inheritance- MMR ysndroe

recessive

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in MMR syndrome, both parents have

Ly ch

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what is the CNS tumor in constitutional MMR

hyper mutated HGG

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2 cancers besides CNS in constitutional MMR

leukemia, colon cancer

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what syndrome has cafe au lait macule and isn’t NF1

constitutional MMRD

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where is TP53

chromosome 17

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7 cancers in Li Fraumeni

osteosarcoma (especially under 10 years old), adrenocorticoid carcinoma (especially under 5), choroid plexus carcinoma, breast cancer hypo diploid ALL, gliomas
GAB CO

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2 syndromes that need annual whole body MRI

li fraumeni (TP53) and constitutional MMR

Gene: rothmud-thomson syndrome

RECQL4

inheretance- rothmud-thomsom syndrome

recessive

poikiloderma, sparse scalp hair, juvenille cataracts radial ray defects and osteosarcoma that is multi centric. syndrome?

rothmnd-thomson

gene- PTEN hamartoma syndrome and AKA name

PTEN, Cowden syndrome

5 tumors and most common for PTEN harmartoma syndrome

most common -papillary thyroid. also lipoma, GI harmartoma, breast cancer, endometrial cncer

macrocephaly, intellectual disability, trichilemmoma (subcutaneous lumps), intestinal hamartomas (polyps)

PTEn-Hamartoma syndrome

MEN1 3 most common tumros - 3Ps

pancreatic neuroendocrine tumors, pituitary adenoma, parathyroid tumors

common presentation for MEN1

primary hyperparathyroidism

MEN4 is similar to MEN1 but what gene

CDKN2a

MEN2A- what gene

RET- activating

MEN2a- 100% penetrance of what

medullary thyroid cancer.

which is more common-MEN2A or 2B

only genetic alteration that causes MEN2B

RET in codon 918

100% penetrance of what in MEN2B

aggressive medullary thrydoid cancer, usually by age 1

what MEN syndrome doesn't usually have primary hyperparathyrodism

what MEN- mucosa neuromas, intestinal ganglioneuromatosis, and marfanoid habitus

MEN2B

Gene- Carney complex

PRKAR1A

HALLMARK finding in Carney complex

lentigines- smal freckels, usually clustered in face and mouth

5 key tumors to worry about in carney compolex

growth hormone secreting pituitary adenoma, differentiate thyroid cancer, cardiac myxomas, psamomatous melanotic schwanomas, large cell calcifying Sertoli cell tumors (ovaries or testes)

what are two differentiated thyroid cancers

papillary or fololiculr

hereditary pheochromocytoma/paraganglioma syndrome- genes

SDHx complex

30% of pheos are attributed to

hereditary pheochromocytoma/paraganglioma syndrome

hereditary pheochromocytoma/paraganglioma syndrome- which of the genes is most likely to metastatcize

SDHB (b- bad

4 cancers in hereditary pheochromocytoma/paraganglioma syndrome besides a pheochromocytoma

renal cell carcinoma, papillary thyroid cancer, pituitary adenoma, GSIT

hereditary neuroblastoma - 2 affected genes

PHOX2B and ALK (activating) all RASOpathies

PHOx2B cause

congenital hypoventilation syndrome, hirschprungs, hereditary NBL

key tumors for DICER1

PPPB, cystic nephroma, sertoli leading cell of ovary, differentiated thyroid, embryonal rhabdomyosarcoma (especially cervi, uterus, thorax or weird places), gynandroblastoma, pineoblastoma

genes for wilms tumors predisposyndromes

WT1 or 11p15/5 loci

5 syndromes to be aware of with WT predisposition

WAGR, denys-drash, frier, Perlman, boring-optiz syndrome

what does WAGR stand for and why (what genes- names)

wilms tumor, aniridia, GU abnormalities, intellectual disability. This is WT1 + aPAX6

gene denys-drash and key finding

WT1 exam 8 or 9. kidney diffuse mesangial sclerosis

gene- Perlman syndrome

DIS3L2 gene

key 3 features perlman

polydatylyl, fetal ascites, WT

gene-= bohring-optiz syndrome, and phenotype

ASXL1- very sydnromic, intellectual disabilityH

FH tumor predisposition syndrome is AKA

hereditary leiomyomatosis and renal cell carcinoma syndrome

key gene in FH tumor predisposition

fumarate hydrates

rhabdoid tumor predisposition type 2- gene and soldi tumor

small cell carcinoma of ovary (hypercalcemic) and rare ATRT. Gene- SMARCa4

gene problem in BWS

imprinting on 11p15.5

how to confirm BWS

DNA methylation profioe

2 key solid tumors in BWS

hepatoblastoma, Wilms tumor

BWS is similar to what other 2 syndromes in terms of screening

Simpson golabi behmel syndrome and trisomy 18

FAP GENE

APC

Key tumors- FAP

COlon, hepatoblastoma (actually less than 23%), abdominal desmoid tumors used to be called Gardner syndrome), papillary thyroid

FAP+ medullo is what syndrome

turcot

what syndrome is similar to FAP but you get negative APC testing and no FH of polyps or colon cancer

MUTYH- recessive colon cancer predisposition syndrome

gene- peut-jeghers syndrome

STK11

key physical exam finding- peutz-jeghers syndrome

oral, peri-abnal, palmar, and plantar freckling

2 cancers to think about with pout jeghers

colon and GU (ovarian/cervix vs testicular)

when do you start colonoscopy or flex sig for peutz-jeghers

8. if no polyps, go to age 18. if yes polyps, then q2-3 years

colon cancer pedispo with classic story of intususception

peutz-jeghers

2 genews- juvenile polyposis syndrome

BMPR1A, SMAD4

GENE- NOONANS

PTPN11

key physical exam findings- noonan

short stature, strabismus, pulmonary valve stenosis shield chest, short neck, high palate, low set ears

caners- noonan

JMML, ALL

gene- Ataxia telangiectasia and inheritance

ATM- autosomal recessive

cancers- Ataxia gelangiectasa

leukemia (ALL) and lymphoma (non-hodgkin lymphoma)

findings in kid with Ataxia telangiectasia

progressive neurodegenration, cerebellar ataxia, immunodeficiency, ocular cutaneous telangiectasia, diabetes mellitus, premature ovarian failure, progressive lung disease, elevated AFP

besides leukemia and lymphoma, cancers for Ataxia telangiectasia?- 2 groups

carcinoma (breast, gastric, thyroid, liver) and glioma

gene and inheritcnce- Nijmegen Breakage syndrome

NBN, rescessive

leukemia and lymphomas you see in Nijmegen Breakage syndrome

T^ cell ALL, B cell NHL

3 cancers besides of leukemia/lymphomas for Nijmegen Breakage syndrome

rHABDOMYOSARCOMA, BRAIN TUMORS, thyroid cancer

leukemia predisposition syndrome- microcephaly, receding mandible, sloping forehead

Nijmegen Breakage syndrome

gene and inheritance in Bloom

BLM, recessive3

4 cancer types for bloom

heme, GI/colon, breast, WY

leukemia predispo- poor growth, narrow head, butterfly rash on face, telangiectasis, cafe au last, photosensitivity (dramatic sunburns)

bloom

familial platelet disorder with associated myeloid malignancy- gene and cancer

RUNX1. MDS/AML, can see monosomy syndrome, anticipation

common presentation for familial platelet disorder with associated myeloid malignancy

mild low plts (in 50s), aspirin like platelet defect, can mimic ITP

thrombocytopenia 5- gene and risks

ETV6, pre-BZ all (Hyperdiploid) and MDS/AML

thrombocytopenia 2- name, leukemia type

ANKRD26 and aka that related thrombocytopenia. usually AML

CEBPA associated familial AML- gene, how to identify on leukemia vs germlije

CEBPA, AML Leukemia should have 2 variants, gremlin has 1

Risk for pheochromocytomas

NF1, VHL, MEN syndromes

MEN2A

remember th letter C- 2C's for each. Calcitonin (medullary caccinoma of they thyroid), calcium (parathyroid hyperplasia), catecholamines (pheos)

cancer predisposition Flashcards

(97 cards)