Primary mediastinal large B-cell lymphoma segregating in a family: exome sequencing identifies MLL as a candidate predisposition gene

Blood. 2013 Apr 25;121(17):3428-30. doi: 10.1182/blood-2012-06-437210. Epub 2013 Mar 1.

Abstract

Primary mediastinal large B-cell lymphoma (PMBCL) is a subtype of diffuse large B-cell lymphoma (DLBCL) accounting for 2% to 4% of all non-Hodgkin lymphomas. We report a family of 3 siblings with PMBCL and their cousin with extranodal DLBCL. The histopathological characteristics of lymphomas of all 4 patients are similar, implying post-germinal center differentiation and growth deregulation by other mechanisms than BCL2-mediated inhibition of apoptosis and suggesting a shared biological background. We aimed to identify the genetic defect underlying lymphoma susceptibility in this family using exome sequencing and linkage analysis. The only variant segregating in all 4 patients and not reported in genetic databases was 5533C>A (His1845Asn) in the MLL gene. To our knowledge, this is the first time when familial clustering of PMBCL is reported. Although we propose MLL as a candidate predisposition gene for this condition, this finding needs to be validated in additional cases.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Exome / genetics*
  • Female
  • Genetic Linkage
  • Genetic Predisposition to Disease*
  • Genetic Variation / genetics*
  • High-Throughput Nucleotide Sequencing
  • Histone-Lysine N-Methyltransferase
  • Humans
  • Lymphoma, Large B-Cell, Diffuse / genetics*
  • Male
  • Mediastinal Neoplasms / genetics*
  • Middle Aged
  • Myeloid-Lymphoid Leukemia Protein / genetics*
  • Pedigree

Substances

  • KMT2A protein, human
  • Myeloid-Lymphoid Leukemia Protein
  • Histone-Lysine N-Methyltransferase