-
Tytuł:
-
Diagnostic value of bone marrow core biopsy patterns in lymphoplasmacytic lymphoma/Waldenström macroglobulinaemia and description of its mutational profiles by targeted NGS.
-
Autorzy:
-
Garcia-Reyero J; Anatomic Pathology Service, Hematology Service and Translational Hematopathology Lab, Hospital Universitario Marques de Valdecilla/IDIVAL. Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Santander, Cantabria, Spain.
Martinez Magunacelaya N; Anatomic Pathology Service, Hematology Service and Translational Hematopathology Lab, Hospital Universitario Marques de Valdecilla/IDIVAL. Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Santander, Cantabria, Spain.
Gonzalez de Villambrosia S; Anatomic Pathology Service, Hematology Service and Translational Hematopathology Lab, Hospital Universitario Marques de Valdecilla/IDIVAL. Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Santander, Cantabria, Spain.
Gomez Mediavilla A; Anatomic Pathology Service, Hematology Service and Translational Hematopathology Lab, Hospital Universitario Marques de Valdecilla/IDIVAL. Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Santander, Cantabria, Spain.
Urquieta Lam M; Anatomic Pathology Service, Hematology Service and Translational Hematopathology Lab, Hospital Universitario Marques de Valdecilla/IDIVAL. Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Santander, Cantabria, Spain.
Insunza A; Anatomic Pathology Service, Hematology Service and Translational Hematopathology Lab, Hospital Universitario Marques de Valdecilla/IDIVAL. Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Santander, Cantabria, Spain.
Tonda R; Centre Nacional d'Anàlisi Genòmica (CNAG-CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Catalunya, Spain.
Beltran S; Centre Nacional d'Anàlisi Genòmica (CNAG-CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Catalunya, Spain.
Gut M; Centre Nacional d'Anàlisi Genòmica (CNAG-CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Catalunya, Spain.
Gonzalez A; Anatomic Pathology Service, Hematology Service and Translational Hematopathology Lab, Hospital Universitario Marques de Valdecilla/IDIVAL. Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Santander, Cantabria, Spain.
Montes-Moreno S; Anatomic Pathology Service, Hematology Service and Translational Hematopathology Lab, Hospital Universitario Marques de Valdecilla/IDIVAL. Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Santander, Cantabria, Spain .
-
Źródło:
-
Journal of clinical pathology [J Clin Pathol] 2020 Sep; Vol. 73 (9), pp. 571-577. Date of Electronic Publication: 2020 Jan 24.
-
Typ publikacji:
-
Journal Article
-
Język:
-
English
-
Imprint Name(s):
-
Publication: London : BMJ Pub. Group
Original Publication: London : British Medical Association
-
MeSH Terms:
-
Lymphoma/*diagnosis
Monoclonal Gammopathy of Undetermined Significance/*diagnosis
Waldenstrom Macroglobulinemia/*diagnosis
Aged ; Aged, 80 and over ; Alleles ; Biopsy ; Bone Marrow/pathology ; Female ; Humans ; Lymphoma/genetics ; Lymphoma/pathology ; Male ; Middle Aged ; Monoclonal Gammopathy of Undetermined Significance/genetics ; Monoclonal Gammopathy of Undetermined Significance/pathology ; Mutation ; Waldenstrom Macroglobulinemia/genetics ; Waldenstrom Macroglobulinemia/pathology
-
Contributed Indexing:
-
Keywords: histopathology; lymphoma; molecular pathology
-
Entry Date(s):
-
Date Created: 20200126 Date Completed: 20200831 Latest Revision: 20200831
-
Update Code:
-
20240104
-
DOI:
-
10.1136/jclinpath-2019-206282
-
PMID:
-
31980558
-
Aims: The aim of this study was to describe the characteristics of the bone marrow infiltration found in a series of clinically defined lymphoplasmacytic lymphoma (LPL)/Waldenström macroglobulinaemia (WM) and IgM-monoclonal gammopathy of undetermined significance (MGUS) and to perform a targeted next-generation sequencing (NGS) for the identification of additional somatic mutations to MYD88 p.L265P in LPL/WM.
Methods: We have reviewed a series of 35 bone marrow biopsies from 28 patients with a clinical diagnosis of LPL/WM (24 cases) or MGUS (4 cases). Bone marrow infiltration characteristics by morphology, immunohistochemistry, flow cytometry (FCM), allele-specific real-time PCR for the detection of MYD88 p.L265P mutation, targeted exonic amplicon-based NGS of 35 lymphoma-related genes and direct sequencing were analysed.
Results: Our findings show that bone marrow trephine biopsy evaluation is superior to FCM in the identification of significant lymphoid infiltrates. A combined paratrabecular and interstitial infiltration pattern is the most common feature in LPL/WM while a patchy interstitial pattern characterises IgM-MGUS cases. MYD88 p.L265P mutation was found by allele-specific-PCR in 92% of the LPL cases (22 out of 24) and 25% of IgM-MGUS cases (1 out of 4 cases). In addition to MYD88 p.L265P somatic mutations in CXCR4 , KMT2D , PRDM1 /Blimp1, MYC and ID3 were found by NGS and direct sequencing in 4 cases.
Conclusions: In conclusion, bone marrow core biopsy evaluation is critical in the identification of unequivocal bone marrow infiltration by LPL/WM. In addition to MYD88 p.L265P, somatic mutations in CXCR4 , KMT2D , PRDM1 /Blimp1, MYC and ID3 can appear in a fraction of LPL/WM.
Competing Interests: Competing interests: None declared.
(© Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.)
