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

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. The...

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Main Authors: 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
Format: Article
Language:English
Published: Nature Publishing Group 2025-06-01
Series:Blood Cancer Journal
Online Access:https://doi.org/10.1038/s41408-025-01286-w
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author 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
author_facet 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
author_sort Xinyan Lu
collection DOAJ
description 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.
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spelling doaj-art-a76a87407bd44fbc8957bf70c76b26de2025-08-20T02:10:30ZengNature Publishing GroupBlood Cancer Journal2044-53852025-06-0115111010.1038/s41408-025-01286-wGuidelines 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 GroupXinyan Lu0Erica F. Andersen1Rahul Banerjee2Celeste C. Eno3Patrick R. Gonzales4Shaji Kumar5Angela M. Lager6Patricia M. Miron7Trevor Pugh8Fabiola Quintero-Rivera9Virginia C. Thurston10Daynna J. Wolff11Jian Zhao12Rafael Fonseca13Linda B. Baughn14Department of Pathology, Northwestern University Feinberg School of MedicineDepartment of Pathology, University of Utah, ARUP LaboratoriesDivision of Hematology and Oncology, University of WashingtonDepartment of Pathology and Laboratory Medicine, Cedars-Sinai Medical CenterDepartment of Pathology and Laboratory Medicine, University of Kansas Medical CenterDivision of Hematology, Mayo ClinicDepartment of Pathology, University of ChicagoDepartment of Pathology, UMass Memorial Health/UMass Chan Medical SchoolDepartment of Medical Biophysics, University of TorontoDepartments of Pathology, Laboratory Medicine, and Pediatrics, Division of Genetic and Genomic Medicine, University of California Irvine (UCI), UC Irvine HealthParke Cytogenetics, Advocate Health-Atrium Health and Carolinas PathologyDepartment of Pathology and Laboratory Medicine, Medical University of South CarolinaDepartment of Pathology, University of Utah, ARUP LaboratoriesDivision of Hematology and Medical Oncology, Mayo ClinicDivision of Hematopathology, Department of Laboratory Medicine and Pathology, Mayo ClinicAbstract 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.https://doi.org/10.1038/s41408-025-01286-w
spellingShingle 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
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 Journal
title 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
title_full 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
title_fullStr 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
title_full_unstemmed 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
title_short 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
title_sort 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
url https://doi.org/10.1038/s41408-025-01286-w
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