Myeloid transformation of plasma cell myeloma: molecular evidence of clonal evolution revealed by next generation sequencing

Diagnostic Pathology
Jonathon H GralewskiYouzhong Yuan

Abstract

Plasma cell myeloma (PCM) is a neoplasm of terminally differentiated B lymphocytes with molecular heterogeneity. Although therapy-related myeloid neoplasms are common in plasma cell myeloma patients after chemotherapy, transdifferentiation of plasma cell myeloma into myeloid neoplasms has not been reported in literature. Here we report a very rare case of myeloid neoplasm transformed from plasma cell myeloma. A 60-year-old man with a history of plasma cell myeloma with IGH-MAF gene rearrangement and RAS/RAF mutations developed multiple soft tissue lesions one year following melphalan-based chemotherapy and autologous stem cell transplant. Morphological and immunohistochemical characterization of the extramedullary disease demonstrated that the tumor cells were derived from the monocyte-macrophage lineage. Next generation sequencing (NGS) studies detected similar clonal aberrations in the diagnostic plasma cell population and post-therapy neoplastic cells, including IGH-MAF rearrangement, multiple genetic mutations in RAS signaling pathway proteins, and loss of tumor suppressor genes. Molecular genetic analysis also revealed unique genomic alterations in the transformed tumor cells, including gain of NF1 and loss of TRAF3. To ou...Continue Reading

References

Mar 8, 1990·The New England Journal of Medicine·J EpsteinX Y He
May 17, 1990·The New England Journal of Medicine·C R NicholsG Tricot
Mar 1, 2002·Current Opinion in Immunology·Michael SchebestaMeinrad Busslinger
Jul 6, 2002·Science·Ingvild MikkolaMeinrad Busslinger
Jul 23, 2003·Human Pathology·Cheuk Kwong LeeLi Chong Chan
Mar 31, 2004·The Lancet Oncology·Andrew L FeldmanElaine S Jaffe
May 28, 2004·Cell·Huafeng XieThomas Graf
May 27, 2006·Blood·Fenghuang ZhanJohn D Shaughnessy
Feb 13, 2008·Haematologica·Andy C RawstronUNKNOWN European Myeloma Network
Oct 22, 2010·Blood·Hervé Avet-LoiseauUNKNOWN Intergroupe Francophone du Myélome
Mar 6, 2013·American Journal of Hematology·Elise Boudry-LabisUNKNOWN French ALFA group
Jun 14, 2013·The American Journal of Surgical Pathology·Dava S WestAndrew L Feldman
Jun 27, 2013·Journal of Clinical and Experimental Hematopathology : JCEH·Emiko Takahashi, Shigeo Nakamura
Oct 1, 2013·Bone Marrow Transplantation·C Fernández de LarreaJ Bladé
Jan 17, 2014·Nature Communications·Niccolo BolliNikhil C Munshi
Feb 26, 2014·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·David MichonneauOlivier Hermine
Apr 10, 2015·PloS One·Katharina TroppanPeter Neumeister
Jul 19, 2015·Diagnostic Pathology·Jiangning ZhaoQuanyi Lu
Aug 20, 2015·Virchows Archiv : an International Journal of Pathology·Maria Raffaella AmbrosioLorenzo Leoncini
Oct 22, 2015·American Journal of Clinical Pathology·Maria Raffaella AmbrosioLorenzo Leoncini
Mar 19, 2016·European Journal of Haematology·Junaid AnsariRodney E Shackelford
Jun 5, 2016·Virchows Archiv : an International Journal of Pathology·Qingqing LiuHongbo Yu
Mar 31, 2017·Current Opinion in Immunology·Ryo Shinnakasu, Tomohiro Kurosaki
Apr 6, 2017·Journal of Medical Case Reports·John L VaughnJeffrey A Jones

❮ Previous
Next ❯

Citations

Apr 13, 2019·International Journal of Hematology·Andrzej SzczepaniakKrzysztof Lewandowski

❮ Previous
Next ❯

Methods Mentioned

BETA
biopsies
flow cytometry
biopsy
PCR

Related Concepts

Related Feeds

Cancer Genomics (Keystone)

Cancer genomics approaches employ high-throughput technologies to identify the complete catalog of somatic alterations that characterize the genome, transcriptome and epigenome of cohorts of tumor samples. Discover the latest research using such technologies in this feed.

B cell Differentiation

Depending on the signal received through the B cell receptor and other receptors, B cells differentiate into follicular or marginal zone B cells. Here is the latest research pertaining to this differentiation process.