Pediatric Cancers

Question 1

Components of classic Ataxia-Telangiectasia

Answer 1

AR inheritance - ATM gene on 11q22.3
Childhood-onset
Progressive disorder (gait and truncal ataxia, slurred speech) oculomotor apraxia, choreoathetosis, oculocutanous telangiectasia, frequent infections, hypersensitivity to ionizing radiation, increased susceptibility to cancer (lymphoma, leukemia (85%), some solid tumors in breast, ovarian, gastric, melanoma, leiomyoma, and sarcoma)
Median survival 25 years

Question 2

Components of tuberous sclerosis complex (TSC)

Answer 2

Complex disease affecting multiple organ systems
AD inheritance- TSC1 and TSC2
Skin findings (hypomelanotic macules, facial angiofibroma, confetti skin lesions, ungual fibromas, shagreen patches, fibrous cephalic plaques), central nervous system tumors (cortical tubers, subependymal nodules, subependymal giant-cell astrocytoma), seizures, developmental delay/intellectual disability, TSC-Associated Neurophysicatric Disorder (TAND), renal disease (angiomyolipomas, malignancy angiomyolipoma, renal cysts, renal cell carcinoma), lymphangioleiomyomatosis, cardiac rhabdomyoma, retinal hamartomas, extrarenal angiomyolipoma, neuroendocrine tumors

Question 3

Components of retinoblastoma

Answer 3

AD inheritance (high de novo rate)- RB1
Leukocoria, strabismus, change in eye appearance, reduced visual acuity
More likely to present with bilateral/multifocal disease
Mean age of diagnosis is 10 months
Increased risk of trilateral retinoblastoma, osteosarcoma, soft tissue sarcomas, melanomas
Heavy screening indications