Myelodysplastic syndrome with 5q deletion following IgM monoclonal gammopathy, showing gene mutation MYD88 L265P

Blood Cells Mol Dis. 2015 Jan;54(1):51-2. doi: 10.1016/j.bcmd.2014.07.022. Epub 2014 Aug 20.

Abstract

Patients affected by monoclonal gammopathy of undetermined significance (MGUS) very rarely develop a myelodysplastic syndrome (MDS). However, it was also demonstrated that MGUS patients had a significantly increased risk of developing MDS compared to the general population. We report a case of 5q-syndrome following a MGUS IgMk with mutation of MYD88 L256P. To our knowledge, this is the first case of del(5q) MDS following MGUS IgMk with the MYD88 L256P mutation in which there is coexistence of the markers of the two clonal diseases, but as an expression of distinct pathological features.

Keywords: 5q deletion; Clonal independence; IgM monoclonal gammopathy; MYD88 L265P mutation; Myelodysplastic syndrome.

Publication types

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

MeSH terms

  • Aged
  • Amino Acid Substitution
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 5 / genetics*
  • Female
  • Humans
  • Immunoglobulin M*
  • Mutation, Missense*
  • Myelodysplastic Syndromes / complications
  • Myelodysplastic Syndromes / genetics*
  • Myelodysplastic Syndromes / pathology
  • Myeloid Differentiation Factor 88 / genetics*
  • Paraproteinemias / etiology
  • Paraproteinemias / genetics*
  • Paraproteinemias / pathology

Substances

  • Immunoglobulin M
  • MYD88 protein, human
  • Myeloid Differentiation Factor 88