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Myelodysplastic Syndrome, Acute Myeloid Leukemia, and Cancer Surveillance in Fanconi Anemia.

Abstract
Fanconi anemia (FA) is a DNA repair disorder associated with a high risk of cancer and bone marrow failure. Patients with FA may present with certain dysmorphic features, such as radial ray abnormalities, short stature, typical facies, bone marrow failure, or certain solid malignancies. Some patients may be recognized due to exquisite sensitivity after exposure to cancer therapy. FA is diagnosed by increased chromosomal breakage after exposure to clastogenic agents. It follows autosomal recessive and X-linked inheritance depending on the underlying genomic alterations. Recognizing patients with FA is important for therapeutic decisions, genetic counseling, and optimal clinical management.
AuthorsSharon A Savage, Michael F Walsh
JournalHematology/oncology clinics of North America (Hematol Oncol Clin North Am) Vol. 32 Issue 4 Pg. 657-668 (08 2018) ISSN: 1558-1977 [Electronic] United States
PMID30047418 (Publication Type: Journal Article, Research Support, N.I.H., Intramural, Review)
CopyrightPublished by Elsevier Inc.
Topics
  • DNA Damage
  • Fanconi Anemia (genetics, immunology, pathology, therapy)
  • Female
  • Genetic Counseling
  • Hematopoietic Stem Cell Transplantation
  • Humans
  • Leukemia, Myeloid, Acute (genetics, immunology, pathology, therapy)
  • Myelodysplastic Syndromes (genetics, immunology, pathology, therapy)

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