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Flashcards in Cancer predisposition syndromes Deck (24)
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1
Q

Beckwitt-Wiedemann syndrome

  • Molecular defects
  • Associated tumors
  • Surveillance protocol
A

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
Q

DICER-1

Name 6 associated tumors

A
  • Pleuro-pulmonary blastoma
  • Cystic nephroma
  • Pineoblastoma, CNS PNET, pituitary blastoma
  • Sertoli-Leydig neoplasms
  • Thyroid cysts
  • Wilms tumor
    (- Intra-ocular medulloepithelioma)
3
Q

Name cancer predisposition syndromes linked to a DNA repair defect

A
  • Fanconi anemia
  • Bloom syndrome
  • Ataxia telangiectasia
  • Nijmegen breakage
4
Q

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

A

ras pathway

5
Q

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

A

Noonan (PTPN11)
Costello (hras)
LEOPARD

6
Q

List 7 malignancies encountered in Li-Fraumeni syndrome

A
  • Choroid plexus carcinoma
  • Adrenocortical carcinoma
  • Bone sarcomas
  • Soft tissue sarcomas
  • Leukemia (especially hypodiploid ALL)
  • Breast cancer of early onset
  • Lung cancer
7
Q

Outline surveillance protocol for Li-Fraumeni syndrome

A
  • 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
Q

Outline surveillance protocol for DICER1 syndrome

A

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
Q

List 6 tumors associated with Von Hippel Linday

A
  • Hemangioblastoma (retina, cerebellum)
  • Pancreatic and renal cysts
  • Renal cell carcinoma
  • Pheochromocytoma, paraganglioma
  • Endolymphatic sac tumors
  • NETs
10
Q

Outline the surveillance protocol in Von Hippel Lindau syndrome

A
  • 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
Q

What are the genes implicated in Gorlin syndrome?

A
  • PTCH1 (chr 9); most common

- SUFU (chr 10); strongly associated with medulloblastoma

12
Q

What physical abnormalities are seen in Gorlin syndrome?

A

Macrocephaly
Frontal bossing
Palmar and plantar pits
Skeletal abnormalities

13
Q

What tumors are associated with Gorlin syndrome (4)?

A
  • Basal cell carcinoma
  • Medulloblastoma
  • Odontogenic keratocysts
  • Cardiac and ovarian fibromas
14
Q

What surveillance protocol is suggested for patients with Gorlin syndrome?

A
  • 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
Q

What genes are implicated in bMMRD?

A

MLH1, MSH2, MSH6, PMS2

Autosomal recessive inheritance

16
Q

What is the most prevalent phenotypic features in bMMRD?

A
  • Cafe au lait spots
  • Leukemia
  • Lymphoma
  • High grade gliomas
  • Colorectal cancer
17
Q

Outline the suggested surveillance protocol in bMMRD?

A
  • 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
Q

What is the tumor spectrum in familial adenomatous polyposis?

A
  • Hepatoblastoma
  • Colorectal adenomas and carcinomas
  • Desmoid tumors
  • Medulloblastomas
  • Odontomas
19
Q

Management in familial adenomatous polyposis?

A
  • AFP, abdominal US q3months starting age 5
  • Colonoscopy q1y starting age 10
  • Colectomy usually recommended in adolescence
20
Q

What causes familial adenomatous polyposis?

A

APC gene mutation (chr 5)

= tumor suppressor gene

21
Q

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

A
  • Nephrogenic rests
  • Bilateral tumors
  • Young age at presentation
  • Histology: stromal predominant
  • Associated GU abnormalities, cryptorchidism, hypospadias
22
Q

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

A
  • Young age at presentation
  • Short stature
  • Dysmorphisms: facial, poikiloderma
  • Sun sensitivity
23
Q

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

A
  • Consanguinity
  • Cafe-au-lait macules, or other NF1 features
  • Low hypodiploidy
  • High toxicity of treatment
24
Q

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

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