A case of acute promyelocytic leukemia variant with derivative chromosome 3 der(3)t(3;8) associated with 8q partial gain

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Abstract

Background: Acute promyelocytic leukemia (APL) is characterized by fusion of PML/RARα genes as a result of t(15; 17)(q24;q21). APL is now one of the curable hematological malignancies thanks to molecularly targeted therapies based on all-trans retinoic acid (ATRA) and arsenic trioxide (ATX). Extramedullary (EM) relapse is a rare event in APL, ear involvement being even more infrequent, with only six cases so far described. About 30–35% of patients with newly diagnosed APL have additional cytogenetics abnormalities, whose prognostic significance is still controversial. The most common additional aberration is trisomy 8 or partial gain 8q. Case presentation: We describe here a novel unbalanced translocation der(3)t(3;8)(q29;q23.3-q24.3) associated with 8q partial gain in a 41 year-old man affected by APL in molecular remission after first line treatment, who had a responsive EM relapse in the auditory canal. Conclusions: EM relapse is a rare event in APL and ear involvement is even more infrequent. To our knowledge, this is the first reported case of APL with a new der(3)t(3;8)(q29;q23.3-q24.3) and 8q partial gain associated with t(15;17)(q24; q21). Despite the recurrence of the disease at EM level, the clinical outcome of this patients was favorable.

Original languageEnglish
Article number445-1
JournalMolecular Cytogenetics
Volume12
Issue number1
DOIs
Publication statusPublished - Jan 1 2019

Keywords

  • Acute promyelocytic leukemia
  • C-myc gene
  • Chromosome 8
  • FISH
  • Molecular cytogenetics
  • Painting

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Medicine
  • Molecular Biology
  • Genetics
  • Genetics(clinical)
  • Biochemistry, medical

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