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Interphase Fluorescence in situ Hybridization of Bone Marrow Smears of Multiple Myeloma
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IgM Plasma Cell Myeloma: Clinicopathologic Features Including Evaluation for MYD88 and CXCR4 Mutations

Haiyan Lu1, Lisa Durkin1, Xiaoxian Zhao1

  • 1Department of Laboratory Medicine, Cleveland Clinic Foundation, Cleveland, OH, USA.

American Journal of Clinical Pathology
|September 11, 2021
PubMed
Summary

Immunoglobulin M plasma cell myeloma (IgMPCM) is rare and challenging to diagnose. This study found IgMPCM lacks MYD88 L265P and CXCR4 mutations, aiding in its differentiation from other IgM neoplasms.

Keywords:
CXCR4 mutationMYD88 L265P mutationImmunoglobulin M plasma cell myelomaWHIM-like

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Area of Science:

  • Hematology
  • Oncology
  • Pathology

Background:

  • Immunoglobulin M plasma cell myeloma (IgMPCM) is a rare plasma cell disorder.
  • Distinguishing IgMPCM from other IgM-related neoplasms can be challenging due to overlapping features.

Purpose of the Study:

  • To characterize the clinicopathologic features of IgMPCM.
  • To investigate the presence of MYD88 L265P and CXCR4 mutations in IgMPCM.

Main Methods:

  • Retrospective review of bone marrow biopsy specimens meeting IgMPCM criteria.
  • Sanger sequencing for MYD88 L265P and WHIM-like CXCR4 mutations.
  • Immunohistochemistry and fluorescence in situ hybridization for cytogenetic abnormalities and morphology.

Main Results:

  • Nine cases of IgMPCM were identified with characteristic morphologic and immunophenotypic findings.
  • All tested cases were negative for MYD88 L265P and WHIM-like CXCR4 mutations.
  • Common cytogenetic abnormalities included t(11;14) and del13q14.

Conclusions:

  • Exclusion of MYD88 L265P and WHIM-like CXCR4 mutations may aid in the diagnosis of IgMPCM.
  • Clinical, laboratory, and radiologic correlation is essential for accurate diagnosis and management of IgMPCM.