Lymphoplasmacytic Lymphoma Presenting with Diarrhea and Joint Pain Which was Successfully Diagnosed by an MYD88 Mutation Analysis

Intern Med. 2017;56(7):847-851. doi: 10.2169/internalmedicine.56.7340. Epub 2017 Apr 1.

Abstract

A 55-year-old man presented to our department with diarrhea, weight loss, fatigability, and polyarthralgia. Blood tests revealed elevated soluble interleukin-2 receptor levels and IgG-type M protein positivity, without any findings that were suggestive of collagen disease. After computed tomography (CT) detected enlarged lymph nodes in the abdominal para-aortic region, lymphoma was suspected. CT-guided needle biopsy of the lymph node did not help to achieve a definitive diagnosis; however, a bone marrow test showed the pathological features of B-cell lymphoma. A genetic examination detected a MYD88 L265P mutation; the mutation analysis was valuable in diagnosing lymphoplasmacytic lymphoma in a IgM-type M protein-negative patient.

Publication types

  • Case Reports

MeSH terms

  • Bone Marrow / pathology
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Glycoproteins / biosynthesis
  • Humans
  • Lymph Nodes / pathology
  • Male
  • Middle Aged
  • Mutation
  • Myeloid Differentiation Factor 88 / genetics*
  • Receptors, Interleukin-2 / biosynthesis
  • Waldenstrom Macroglobulinemia / diagnosis*
  • Waldenstrom Macroglobulinemia / genetics*
  • Waldenstrom Macroglobulinemia / pathology

Substances

  • Glycoproteins
  • Myeloid Differentiation Factor 88
  • Receptors, Interleukin-2
  • protein M (glycoprotein)