Cancer Health Center

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Inherited and Acquired Genetic Syndromes Associated with Myeloid Malignancies

• Inherited syndromes
  • Chromosomal imbalances:
    • Down syndrome.
    • Familial monosomy 7 syndrome.
  • Chromosomal instability syndromes:
    • Fanconi anemia.
    • Dyskeratosis congenita.
    • Bloom syndrome.
  • Syndromes of growth and cell survival signaling pathway defects:
    • Neurofibromatosis type 1 (particularly JMML development).
    • Noonan syndrome (particularly JMML development).
    • Severe congenital neutropenia (Kostmann syndrome).
    • Diamond-Blackfan anemia.
    • Familial platelet disorder with a propensity to develop AML.
    • Congenital amegakaryocytic thrombocytopenia.
• Acquired syndromes
  • Severe aplastic anemia.
  • Paroxysmal nocturnal hemoglobinuria.
  • Amegakaryocytic thrombocytopenia.
  • Acquired monosomy 7.

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