Acute megakaryoblastic leukemia in a patient with a familial pericentric inversion of chromosome 8, inv(8)(p23.1q13)

Cancer Genet Cytogenet. 1998 Aug;105(1):74-8. doi: 10.1016/s0165-4608(97)00478-0.

Abstract

A 7-month-old girl was diagnosed with acute megakaryoblastic leukemia and, at the time of diagnosis, the karyotype was 48-50,XX,+4,+5,del(5)(p13),del(6)(q14), +8,inv(8)(p23.1q13),der(13) t(13;?;?),+19,-20,+21,+22,+mar [cp20]. At relapse, there was clear evidence of her constitutional status as a carrier of the pericentric inversion (8)(p23.1q13). It was a familial inversion affecting the patient's maternal lineage; a history of cancer and bleeding anomalies in carriers of the inversion led us to consider their nonrandom association with these pathologies.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Centromere / genetics
  • Chromosome Inversion*
  • Chromosomes, Human, Pair 8 / genetics*
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Karyotyping
  • Leukemia, Megakaryoblastic, Acute / genetics*
  • Pedigree