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Flashcards in Cancer predisposition syndromes Deck (24)
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1

Beckwitt-Wiedemann syndrome
- Molecular defects
- Associated tumors
- Surveillance protocol

1) Loss of imprinting (paternal uniparental disomy) at chr 11q15
2) Most commonly: Wilms tumor, hepatoblastoma
3) Until 4 years of age: abdo US q 3 months, AFP q 3 months
Until 8 years of age: renal US q 3 months

2

DICER-1
Name 6 associated tumors

- Pleuro-pulmonary blastoma
- Cystic nephroma
- Pineoblastoma, CNS PNET, pituitary blastoma
- Sertoli-Leydig neoplasms
- Thyroid cysts
- Wilms tumor
(- Intra-ocular medulloepithelioma)

3

Name cancer predisposition syndromes linked to a DNA repair defect

- Fanconi anemia
- Bloom syndrome
- Ataxia telangiectasia
- Nijmegen breakage

4

Neuro-cardio-facio-cutaneous syndrome: what pathway is mutated?

ras pathway

5

Name 4 examples of neuro-cardio-facio-cutaneous syndromes

Noonan (PTPN11)
Costello (hras)
LEOPARD

6

List 7 malignancies encountered in Li-Fraumeni syndrome

- Choroid plexus carcinoma
- Adrenocortical carcinoma
- Bone sarcomas
- Soft tissue sarcomas
- Leukemia (especially hypodiploid ALL)
- Breast cancer of early onset
- Lung cancer

7

Outline surveillance protocol for Li-Fraumeni syndrome

- Bloodwork q 3-4 months: CBC, ESR, LDH, hormonal levels
- Whole body MRI q 1 year
- Brain MRI q 1 year
- Abdo-pelvic US q3-4 months

8

Outline surveillance protocol for DICER1 syndrome

Chest CT @ 3-6 months of age, and @ 2.5-3 yrs
Chest X-R q 6 months until age 8
Abdo and renal U/S + Neck and thyroid U/S q 6 months (at SickKids)
Brain MRI if Sx

9

List 6 tumors associated with Von Hippel Linday

- Hemangioblastoma (retina, cerebellum)
- Pancreatic and renal cysts
- Renal cell carcinoma
- Pheochromocytoma, paraganglioma
- Endolymphatic sac tumors
- NETs

10

Outline the surveillance protocol in Von Hippel Lindau syndrome

- Whole-body MRI q 1y
- Ophtalmology exam q 1y
- Plasma fractionated metanephrines q 1y(starting age 2)
- Audiology q 2y (starting age 5)
- Brain MRI q 2y (starting age 8)
- Abdominal MRI q 1y (starting age 10)

11

What are the genes implicated in Gorlin syndrome?

- PTCH1 (chr 9); most common
- SUFU (chr 10); strongly associated with medulloblastoma

12

What physical abnormalities are seen in Gorlin syndrome?

Macrocephaly
Frontal bossing
Palmar and plantar pits
Skeletal abnormalities

13

What tumors are associated with Gorlin syndrome (4)?

- Basal cell carcinoma
- Medulloblastoma
- Odontogenic keratocysts
- Cardiac and ovarian fibromas

14

What surveillance protocol is suggested for patients with Gorlin syndrome?

- Skin exam q 1y
- Echocardiography *1 in infancy
- Dental exam, jaw X-R 12-18 months (starting age 8)
- Ovarian US *1 @ 18 y.o.
- If SUFU: brain MRI 4-6 months

15

What genes are implicated in bMMRD?

MLH1, MSH2, MSH6, PMS2
Autosomal recessive inheritance

16

What is the most prevalent phenotypic features in bMMRD?

- Cafe au lait spots
- Leukemia
- Lymphoma
- High grade gliomas
- Colorectal cancer

17

Outline the suggested surveillance protocol in bMMRD?

- Brain MRI q 6m
- CBC q 6m (starting age 1)
- Abdominal US q6m (starting age 1)
- Colonoscopy q 1y (starting age 4-6)
- Whole body MRI q 1y (starting age 6)

18

What is the tumor spectrum in familial adenomatous polyposis?

- Hepatoblastoma
- Colorectal adenomas and carcinomas
- Desmoid tumors
- Medulloblastomas
- Odontomas

19

Management in familial adenomatous polyposis?

- AFP, abdominal US q3months starting age 5
- Colonoscopy q1y starting age 10
- Colectomy usually recommended in adolescence

20

What causes familial adenomatous polyposis?

APC gene mutation (chr 5)
= tumor suppressor gene

21

When a genetic origine should be suspected in the setting of Wilms tumor? (5)

- Nephrogenic rests
- Bilateral tumors
- Young age at presentation
- Histology: stromal predominant
- Associated GU abnormalities, cryptorchidism, hypospadias

22

When should one suspect a cancer predisposition syndrome in the setting of osteosarcoma?

- Young age at presentation
- Short stature
- Dysmorphisms: facial, poikiloderma
- Sun sensitivity

23

When should one suspect a cancer predisposition syndrome in the setting of hematological malignancy?

- Consanguinity
- Cafe-au-lait macules, or other NF1 features
- Low hypodiploidy
- High toxicity of treatment

24

What conditions are associated with RCC (6/8)?

- Von Hippel Lindau
- Tuberous sclerosis
- Birt-Hogg-Dubé
- Familial RCC
- Familial leiomatosis and RCC syndrome
- Sickle trait (medullary RCC)
- PTEN
- BAP1