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Acute myeloid leukemia (AML) with t(7;12)(q36;p13) is associated with infancy and trisomy 19: Data from Nordic Society for Pediatric Hematology and Oncology (NOPHO-AML) and review of the literature

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  • Anne Dorte Lerche Espersen
  • Ulrika Noren-Nyström
  • Jonas Abrahamsson
  • Shau-Yin Ha
  • Cornelis Jan Pronk
  • Kirsi Jahnukainen
  • Ólafur G Jónsson
  • Birgitte Lausen
  • Josefine Palle
  • Bernward Zeller
  • Lars Palmqvist
  • Henrik Hasle
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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.

Original languageEnglish
JournalGenes, Chromosomes & Cancer
Volume57
Issue number7
Pages (from-to)359-365
Number of pages7
ISSN1045-2257
DOIs
Publication statusPublished - Jul 2018

    Research areas

  • Chromosomes, Human, Pair 12, Chromosomes, Human, Pair 19, Chromosomes, Human, Pair 7, Female, Humans, Infant, Leukemia, Myeloid, Acute/drug therapy, Male, Recurrence, Survival Analysis, Translocation, Genetic, Trisomy

ID: 56424715