KMT2A-MLLT1 and the Novel SEC16A-KMT2A in a Cryptic 3-Way Translocation t(9;11;19) Present in an Infant With Acute Lymphoblastic Leukemia

J Pediatr Hematol Oncol. 2022 Apr 1;44(3):e719-e722. doi: 10.1097/MPH.0000000000002386.

Abstract

About 25% of the patients with the translocation t(11;19)(q23;p13.3)/KMT2A-MLLT1 present three-way or more complex fusions, associated with a worse prognosis, suggesting that a particular mechanism creates functional KMT2A fusions for this condition. In this work, we show a cryptic three-way translocation t(9;11;19). Interestingly, long-distance inverse polymerase chain reaction sequencing revealed a KMT2A-MLLT1 and the yet unreported out-of-frame SEC16A-KMT2A fusion, associated with low SEC16A expression and KMT2A overexpression, in an infant with B-acute lymphoblastic leukemia presenting a poor prognosis. Our case illustrates the importance of molecular cytogenetic tests in selecting cases for further investigations, which could open perspectives regarding novel therapeutic approaches for poor prognosis childhood leukemias.

Publication types

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

MeSH terms

  • Child
  • Endoplasmic Reticulum* / metabolism
  • Golgi Apparatus / metabolism
  • Humans
  • Infant
  • Myeloid-Lymphoid Leukemia Protein / genetics
  • Myeloid-Lymphoid Leukemia Protein / metabolism
  • Neoplasm Proteins / genetics
  • Nuclear Proteins / genetics
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma* / genetics
  • Transcription Factors / genetics
  • Translocation, Genetic
  • Vesicular Transport Proteins

Substances

  • MLLT1 protein, human
  • Neoplasm Proteins
  • Nuclear Proteins
  • SEC16A protein, human
  • Transcription Factors
  • Vesicular Transport Proteins
  • Myeloid-Lymphoid Leukemia Protein