Therapy-related acute myeloid leukemia with t(2;11)(q37;q23) after treatment for osteosarcoma.

The survival rate for children with osteosarcoma (OS) has improved dramatically with the introduction of multiagent chemotherapy. As the number of pediatric cancer survivors increases, there is a concern about the development of secondary malignant neoplasms. Secondary acute myeloid leukemia (AML) has been rarely reported after treatment for OS. We describe a 14-year-old boy with OS of the left ileum who developed secondary AML 15 months after completion of treatment. Cytogenetic analysis of the leukemic cells demonstrated deletion 11q23, whereas fluorescence in situ hybridization revealed rearrangement of the MLL gene. Only the addition of the long-distance inverse polymerase chain reaction technique identified the SEPT2 as the MLL fusion partner resulting in t(2;11)(q37;q23) that was reported in a very few secondary AML cases. Because of the cryptic nature of MLL translocations that cannot be detected by conventional cytogenetics or may misinterpreted as deletion, additional molecular techniques are required to identify the precise translocation partner. Because long-distance inverse polymerase chain reaction is not available in most molecular laboratories, the true incidence of t(2;11)(q37;q23) and the involvement of SEPT2 as the MLL translocation partner could be more prevalent in secondary AML.
AuthorsBella Bielorai, Claus Meyer, Luba Trakhtenbrot, Hana Golan, Esther Rozner, Ninette Amariglio, Shai Izraeli, Rolf Marschalek, Amos Toren
JournalCancer genetics and cytogenetics (Cancer Genet Cytogenet) Vol. 203 Issue 2 Pg. 288-91 (Dec 2010) ISSN: 1873-4456 [Electronic] United States
PMID21156246 (Publication Type: Case Reports, Journal Article)
CopyrightCopyright © 2010 Elsevier Inc. All rights reserved.
  • Adolescent
  • Aged
  • Bone Neoplasms (drug therapy, genetics)
  • Child
  • Chromosome Deletion
  • Chromosomes, Human, Pair 11
  • Chromosomes, Human, Pair 2
  • Cytogenetics
  • Female
  • Humans
  • Ileum (pathology)
  • In Situ Hybridization, Fluorescence
  • Leukemia, Myeloid, Acute (genetics)
  • Male
  • Middle Aged
  • Osteosarcoma (drug therapy, genetics)
  • Polymerase Chain Reaction
  • Translocation, Genetic

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