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Multiple myeloma in three siblings

P H Roddie1, R Dang, A C Parker

  • 1Department of Haematology, Western General Hospital, Edinburgh, UK.

Clinical and Laboratory Haematology
|July 29, 1998
PubMed
Summary
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Three siblings diagnosed with myeloma suggest a genetic predisposition. Genetic analysis revealed a p53 mutation in one sibling, likely somatic, not germline, impacting familial cancer risk understanding.

Area of Science:

  • Hematology
  • Oncology
  • Genetics

Background:

  • Multiple myeloma, a plasma cell malignancy, rarely clusters within families.
  • Familial myeloma cases are infrequent, with only a few documented instances involving three affected siblings.

Observation:

  • This report details a family with three siblings diagnosed with multiple myeloma over a six-year period.
  • Two siblings had IgG kappa paraprotein, and one had kappa light chain only myeloma.
  • The occurrence prompted an investigation into potential genetic factors contributing to myeloma development.

Findings:

  • Screening for p53 mutations in exons 5-8 was conducted using denaturing gradient gel electrophoresis (DGGE) on bone marrow DNA.
  • A p53 mutation was detected in one of the three affected siblings.

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  • The identified p53 mutation was characterized as somatic rather than germline.

    • Implications:

    • This case strongly suggests a genetic predisposition to multiple myeloma within this family.
    • While a germline p53 mutation was not confirmed, the findings warrant further research into genetic risk factors for familial myeloma.
    • Understanding the genetic underpinnings of familial myeloma is crucial for risk assessment and potential targeted therapies.