Guidelines for the testing and reporting of cytogenetic results for risk stratification of multiple myeloma: a report of the Cancer Genomics Consortium Plasma Cell Neoplasm Working Group

Xinyan Lu; Erica F Andersen; Rahul Banerjee; Celeste C Eno; Patrick R Gonzales; Shaji Kumar; Angela M Lager; Patricia M Miron; Trevor Pugh; Fabiola Quintero-Rivera; Virginia C Thurston; Daynna J Wolff; Jian Zhao; Rafael Fonseca; Linda B Baughn

doi:10.1038/s41408-025-01286-w

Guidelines for the testing and reporting of cytogenetic results for risk stratification of multiple myeloma: a report of the Cancer Genomics Consortium Plasma Cell Neoplasm Working Group

Blood Cancer J. 2025 Jun 18;15(1):86. doi: 10.1038/s41408-025-01286-w.

Authors

Affiliations

¹ Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
² Department of Pathology, University of Utah, ARUP Laboratories, Salt Lake City, UT, USA.
³ Division of Hematology and Oncology, University of Washington, Seattle, WA, USA.
⁴ Department of Pathology and Laboratory Medicine, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
⁵ Department of Pathology and Laboratory Medicine, University of Kansas Medical Center, Kansas City, KS, USA.
⁶ Division of Hematology, Mayo Clinic, Rochester, MN, USA.
⁷ Department of Pathology, University of Chicago, Chicago, IL, USA.
⁸ Department of Pathology, UMass Memorial Health/UMass Chan Medical School, Worcester, MA, USA.
⁹ Department of Medical Biophysics, University of Toronto, Toronto, Canada.
¹⁰ Departments of Pathology, Laboratory Medicine, and Pediatrics, Division of Genetic and Genomic Medicine, University of California Irvine (UCI), UC Irvine Health, Irvine, CA, USA.
¹¹ Parke Cytogenetics, Advocate Health-Atrium Health and Carolinas Pathology, Charlotte, NC, USA.
¹² Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, SC, USA.
¹³ Division of Hematology and Medical Oncology, Mayo Clinic, Scottsdale, AZ, USA.
¹⁴ Division of Hematopathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA. baughn.linda@mayo.edu.

Abstract

Fluorescence in situ hybridization (FISH) remains the gold-standard clinical assay to detect genetic abnormalities in multiple myeloma (MM). However, FISH panel design, use of conventional chromosome banding analysis and reporting practices have been reported to vary among laboratories. Therefore, standardization in FISH testing and reporting practices is needed to improve report clarity and avoid misinterpretation. The recommendations in this paper represent a consensus of our Cancer Genomics Consortium Plasma Cell Neoplasm Working Group, comprising a joint panel of cytogenetic laboratory directors and clinical investigators with expertise in the diagnosis, risk stratification, and treatment of multiple myeloma. Prior to developing these consensus recommendations, we performed a full literature review and conducted a survey of 102 oncologists to assess current variations and challenges in MM cytogenetic/FISH testing and reporting. Our guidelines establish best practices for the optimization of FISH panel selection, and recommendations for standardized reporting of cytogenetic results to align with the 2025 International Myeloma Society (IMS)/International Myeloma Working Group (IMWG) Updated Risk Stratification.

Publication types

Review

MeSH terms

Chromosome Aberrations
Cytogenetic Analysis* / methods
Cytogenetic Analysis* / standards
Genomics / methods
Humans
In Situ Hybridization, Fluorescence* / methods
In Situ Hybridization, Fluorescence* / standards
Multiple Myeloma* / diagnosis
Multiple Myeloma* / genetics
Practice Guidelines as Topic
Risk Assessment

Grants and funding

P50 CA186781/CA/NCI NIH HHS/United States