Pediatric Oncology Flashcards

1
Q

What percent of childhood cancers are hereditary?

A

10%

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2
Q

What are six childhood cancers that warrant an evaluation by genetics?

A

Osteosarcoma
Ewing sarcoma
CNS tumors
Neuroblastoma
Wilms tumor
Rhabdomyosarcoma

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3
Q

When is an oncology referral to genetics indicated

A
  • Tumor type
  • Somatic findings suggestive of a germline predisposition
  • Laterality (bilateral, multifocal, multiple primary tumors)
  • Family Hx
  • ≥2 malignancies in family members dx <18yo (proband included)
  • FDR w/ hx of cancer dx <45yo
  • ≥2 FDR or SDR w/ hx of cancer dx <45yo
  • Consanguinity
  • Other clinical findings
  • Congenital or other anomalies
  • Toxicity related to therapy
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4
Q

What is Constitutional Mismatch Repair Deficiency?

A

Autosomal recessive disorder caused by mutations in the Lynch Syndrome genes (MSH2, MSH6, PMS2, MLH1) that causes predisposition to cancer

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5
Q

What are some of the findings in CMMRD?

A

CALM
Skin hypopigmentation
Lisch nodules

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6
Q

What are the most prevalent cancers in CMMRD?

A

Brain tumors
Hematological malignancies
LS associated cancers

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7
Q

What is the average age of onset for CMMRD?

A

12-30 years

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8
Q

What screening is recommended in CMMRD?

A

MRI brain, whole body MRI, CBC, Abdominal US, Upper GI endoscopy, ileocolonoscopy, gyn exam, transvaginal US, urine test

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9
Q

What is DICER1 syndrome?

A

DICER1 syndrome is an inherited disorder that increases the risk of a variety of cancerous and noncancerous (benign) tumors

Tumors that occur in the lungs, kidneys, ovaries, and thyroid

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10
Q

What is the lung tumor that occurs in DICER1 syndrome and what is the screening recommendation for the lungs?

A

Pleuropulmonary blastoma (PPB)

Chest x-ray at birth, every 4-6 mos until age 8 yrs, then annually until age 12

Consider chest CT at age 3-6 mos. If initial CT normal: consider repeat CT at age 2.5-3 yrs.

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11
Q

What is the genetic cause of Rhabdoid Tumor Predisposition syndromes?

A

SMARCB1 (>98%), SMARCA4 (<2%)

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12
Q

What are the tumor types found in rhabdoid tumor predisposition syndrome (RTPS type I)?

A

Rhabdoid tumor (>90% will develop by 5yo)
Schwannomatosis (SMARCB1 may be candidate gene)
Multiple meningiomas
Malignant peripheral nerve sheath tumor

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13
Q

What are the tumor types found in rhabdoid tumor predisposition syndrome (RTPS type II)? (SMARCA4)

A

Small cell carcinoma of the ovary (40% of females will be +SMARCA4)
Malignant rhabdoid tumor and atypical teratoid

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14
Q

What is the screening in Rhabdoid Tumor Predisposition Syndrome (RTPS)?

A

Neurological exam
US of abdomen, neck and head
Brain and spine MRI or WBMRI

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15
Q

What are the findings in Ataxia-Telangiectasia (AT)?

A

Telangiectasia
Ocular telangiectasia by 6 years
Neurodegeneration (progressive gain&truncal cerebella ataxia–1-4yrs)
By 10 years in wheelchair
Immune defects
Radiosensitivity
Sterility (ovarian failure)
Cancer

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16
Q

What is the gene that causes Ataxia-Telangiectasia and what is the mode of inheritance?

A

ATM

Autosomal Recessive

17
Q

What are the cancer risks in Ataxia-Telangiectasia?

A

T-ALL, NHL, HL, AML

18
Q

What are the cancer risks in Fanconi Anemia?

A

Acute myeloid leukemia (AML)
SCC
-Head & Neck (most common solid tumor and more often occur on the tongue)
-Esophagus, vulva
-Cervical cancer
-Liver tumors

19
Q

What is the phenotype of Fanconi Anemia (BRCA2)?

A

Early-onset acute leukemia and solid tumors
-97% chance of malignancy to develop by 6yo

Add abdominal ultrasound and brain MRI in screening

20
Q

What is the phenotype of Fanconi Anemia (FANCB)?

A

early-onset bone marrow failure & severe congenital abnormalities

21
Q

What is the phenotype of Fanconi Anemia (FANCG)?

A

severe bone marrow failure and higher incidence of leukemia

22
Q

What is the phenotype of Fanconi Anemia (PALB)?

A

solid tumors

23
Q

What are some of the surveillance recommendations for Fanconi Anemia for cancer?

A

Blood counts
bone marrow aspirate/biopsy
FISH & cytogenic testing
Liver function tests
Liver US
PAP smear starting 13 years
Exam by dentist
Nasolaryngoscopy
Dermatologist

24
Q

What is the classic triad in DYSKERATOSIS CONGENITA (DC) TELOMERE BIOLOGY DISORDERS (TBD)?

A

oral leukoplakia, reticular skin pigmentation, nail
dystrophy

25
Q

What are additional findings in DYSKERATOSIS CONGENITA (DC) TELOMERE BIOLOGY DISORDERS (TBD)?

A

-Myelodysplastic syndrome (MDS), AML, Bone Marrow Failure (BMF)
-Pulmonary Fibrosis, Emphysema
-Liver Fibrosis/Cirrhosis
-Solid tumors of the head and neck

26
Q

When should you suspect DC/TBD?

A

Two features of the classic triad

PHx and FHx of any:
-BMF
-MDS
-AML
-early-onset head/neck SCC,
-Pulmonary fibrosis

27
Q

What test besides gene panel should you order for DYSKERATOSIS CONGENITA (DC) TELOMERE BIOLOGY DISORDERS (TBD)?

A

Telomere length testing

28
Q

What is the genetic cause and mode of inheritance in NIJMEGEN BREAKAGE SYNDROME (NBJ)?

A

NBN gene
Autosomal Recessive

29
Q

What are the features of Nijmegen Breakage Syndrome?

A

-Microcephaly: >99%
-Growth Deficiency: varies w/ age, but can present at birth
-Immunodeficiency: ≥99%
-Malignancy: >60% by age 25
-Lymphomas
-CNS: Medulloblastomas, gliomas, rhabdomyosarcomas
-Ovarian germ cell tumors
-Infertility: 100% of females (premature ovarian failure)

30
Q

What percentage of DICER1 mutations are de novo?

A

20%