First report of t(1;9)(q21;q34) in Fanconi anemia as a preceeding chromosomal aberration before leukemia development

BOZKURT S., ÜNAL Ş., GÜMRÜK F.

KUWAIT MEDICAL JOURNAL, vol.54, no.1, pp.119-122, 2022 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 54 Issue: 1
  • Publication Date: 2022
  • Journal Name: KUWAIT MEDICAL JOURNAL
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), EMBASE
  • Page Numbers: pp.119-122
  • Keywords: acute myeloid leukemia, childhood leukemia, chromosomal abnormalities, Fanconi anemia, rare translocation, ACUTE MYELOID-LEUKEMIA, ABNORMALITIES, MALIGNANCIES, RISK, AML
  • Hacettepe University Affiliated: Yes

Abstract

Patients with Fanconi anemia (FA) tend to develop various hematologic and solid tumors. Cytogenetic abnormalities such as translocations of chromosome 1q, monosomy 5 and 7, trisomy 10, gains of 3q and t(8;21) have been reported in patients with FA who developed hematological malignancies. Since survival is low after the development of leukemia in FA patients, the follow-up for leukemia progression is very important. For this reason, cytogenetic anomalies that can be used as biomarkers in the development of leukemia are needed. Herein, we describe a patient with FA who developed acute myeloid leukemia with der(9)t(1;9) (q21;q34) for the first time.