Overgrowth Syndromes Flashcards

1
A
  • PTEN, SDHB, SDHD, KLLN; AD
  • PTEN is tumor suppressor
  • Similar to Bannayan-Riley-Ruvalcaba syndromeand Proteus syndrome, sometimes together referred to as “PTEN hamartoma tumor syndrome”
  • Overgrowth syndrome
  • Signs:
    • Macrocephaly: “PTEN BIG HEAD”
    • Hamartomas (nearly 100% chance)
    • Derm signs (e.g., trichilemmomas, pic)
    • Sometimes: Lhermitte-Duclos (rare, noncancerous brain tumor), ID/DD
  • Increased cancer risk (%):
    • Breast: 50-85
    • Thyroid: 30-40
    • Uterine: 25-30
    • CRC: 5-10
    • Kidney: 30-35
    • Melanoma: 6
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2
Q

Weaver syndrome

A
  • EZH2; AD
  • Overgrowth syndrome
  • Tall stature, sometimes macrocephaly, mild ID, broad forehead, hypertelorism, joint contractures, hypo/hypertonia
  • Increased risk for neuroblastoma in early childhood (exact % unknown)
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3
A
  • Abn methylation at 11p15.5 imprinting centers (IGF2, CDKN1C, &more); 85% de novo due to imprinting, 15% AD due to point mutations
  • Most cases caused by paternal UPD
  • Overgrowth syndrome
  • Signs:
    • Macroglossia
    • Macrosomia
    • Hemihypertrophy
    • Omphalocele
    • Hypoglycemia
    • Wilm’s tumor
  • Increased cancer risk in childhood (before age 10):
    • 5-10% overall
    • Embryonal tumors:
      • Wilm’s tumor (40% of cases)
      • Hepatoblastoma
      • Neuroblastoma
      • Rhabdomyosarcoma
    • Adrenocortical tumor (20% of cases)
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