title: Acute myeloid leukemia with complex hypodiploidy and loss of heterozygosity of 17p in a boy with Fanconi anemia.
abstract: Fanconi anemia (FA) is a congenital bone marrow failure syndrome in association with increased susceptibility to malignancy. We report the first in-depth description of a boy with FA who developed acute myeloid leukemia with complex hypodiploidy karyotype after successful stem cell transplantation. Of note, the leukemic cells consistently showed loss of heterozygosity (LOH) of the short arm of chromosome 17 (17p), which harbors the TP53 tumor suppressor gene. The complex hypodiploidy karyotype of the leukemic cells with LOH for 17p may represent a unique karyotypic profile that reflects genomic instability and thereby confers poor prognosis.
authors.affiliation: Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Hye In
authors.initials: HI
authors.lastname: Woo
authors.forename: Hee-Jin
authors.initials: HJ
authors.lastname: Kim
authors.forename: Soo Hyun
authors.initials: SH
authors.lastname: Lee
authors.forename: Keon Hee
authors.initials: KH
authors.lastname: Yoo
authors.forename: Hong Hoe
authors.initials: HH
authors.lastname: Koo
authors.forename: Sun-Hee
authors.initials: SH
authors.lastname: Kim
mesh_terms: D002675:Child, Preschool; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D004171:Diploidy; D005199:Fanconi Anemia / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D017809:Fatal Outcome; D006801:Humans; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D019656:Loss of Heterozygosity / Q000235:genetics*; D008297:Male