AML with t(7;12)(q36;p13) is associated with infancy and trisomy 19. Data from NOPHO-AML and review of the literature

Publikation: Bidrag til tidsskrift/Konferencebidrag i tidsskrift /Bidrag til avisTidsskriftartikelForskningpeer review

DOI

  • Anne Dorte Lerche Espersen
  • Ulrika Noren-Nyström, Umeå University
  • ,
  • Jonas Abrahamsson, Institution for Clinical Sciences, Department of Pediatrics, Queen Silvia Children's Hospital, Gothenburg, Sweden.
  • ,
  • Shau-Yin Ha, Department of Pediatrics, Queen Mary Hospital and Hong Kong Pediatric Hematology & Oncology Study Group (HKPHOSG), Hong Kong, China.
  • ,
  • Cornelis Jan Pronk, Department of Pediatrics, Skåne University Hospital, Lund, Sweden.
  • ,
  • Kirsi Jahnukainen, University of Helsinki
  • ,
  • Ólafur G Jónsson, Department of Pediatrics, Landspitalinn, Reykjavik, Iceland.
  • ,
  • Birgitte Lausen, Department of Pediatrics and Adolescent Medicine, University Hospital Rigshospitalet, Copenhagen, Denmark.
  • ,
  • Josefine Palle, Uppsala University
  • ,
  • Bernward Zeller, Norwegian Childhood Diabetes Registry, Division of Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
  • ,
  • Lars Palmqvist, University of Gothenburg
  • ,
  • Henrik Hasle

The t(7;12)(q36;p13) (MNX1/ETV6) is not included in the WHO classification but has been described in up to 30% of acute myeloid leukemia (AML) in children <2 years and associated with a poor prognosis. We present the clinical and cytogenetics characteristics of AML cases with t(7;12)(p36;p13). A literature review identified 35 patients with this translocation, published between 2000 and 2015. Outcome data were available in 22 cases. The NOPHO-AML (Nordic Society for Pediatric Hematology and Oncology) database contained 651 patients with AML from 1993 to 2014 and seven (1.1%) had the translocation. The t(7;12) was only present in patients <2 years of age (median age 6 months) but none was diagnosed as newborn. These patients constituted 4.3% of the patients <2 years of age. There was a strong association with trisomy 19 (literature: 86%, NOPHO: 100%) and +8 (literature: 19%, NOPHO: 14%). Seventeen of 22 patients from the literature with t(7;12) and four of seven patients from the NOPHO database suffered from relapse. The patients with t(7;12) had a 3-year event free survival of 24% (literature) vs. 43% (NOPHO) and a 3-year overall survival of 42% (literature) vs. 100% (NOPHO). None of the NOPHO patients was treated with hematopoietic stem cell transplantation (HSCT) in first complete remission. Relapse was frequent but the salvage rate using HSCT was high. We conclude that t(7;12)(q36;13) is a unique subgroup of childhood AML with presentation before 2 years of age with most cases being associated with +19. This article is protected by copyright. All rights reserved.

OriginalsprogEngelsk
TidsskriftGenes, Chromosomes & Cancer
Vol/bind57
Nummer7
Sider (fra-til)359-365
Antal sider7
ISSN1045-2257
DOI
StatusUdgivet - jul. 2018

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