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Annals of Clinical and Laboratory... Sep 2017IgM multiple myeloma (MM) is a rare entity representing approximately 0.5% of all MM. It should be distinguished from malignant neoplasms of B cells with plasmacytic... (Review)
Review
IgM multiple myeloma (MM) is a rare entity representing approximately 0.5% of all MM. It should be distinguished from malignant neoplasms of B cells with plasmacytic differentiation such as Waldenstrom macroglobulinemia (WM) and marginal zone lymphoma with plasmacytic differentiation. Plasma cell leukemia (PCL) is a rare and aggressive variant of MM characterized by the presence of circulating plasma cells. We present a case report of a patient who presented with IgM MM in primary PCL phase with high-risk cytogenetics. To our knowledge, this is the first reported case of IgM MM with primarily leukemic presentation in the era of novel drugs. We demonstrate that it is important to distinguish IgM MM from WM and review the data from clinical trials that was used to devise a treatment strategy for this high-risk patient. This case adds to the understanding of the diagnosis and management of IgM MM in leukemic phase.
Topics: Aged; Chromosome Deletion; Chromosomes, Human, Pair 17; Combined Modality Therapy; Diagnosis, Differential; Female; Humans; Immunoglobulin M; Immunoglobulins; Leukemia, Plasma Cell; Multiple Myeloma; Treatment Outcome; Waldenstrom Macroglobulinemia
PubMed: 29066491
DOI: No ID Found -
The Journal of Molecular Diagnostics :... Oct 2022Plasma cell neoplasm (PCN) is associated with characteristic chromosomal aberrations of diagnostic and prognostic significance. The presence of a small percentage of...
Plasma cell neoplasm (PCN) is associated with characteristic chromosomal aberrations of diagnostic and prognostic significance. The presence of a small percentage of neoplastic cells is a drawback in the application of karyotyping and fluorescence in situ hybridization for the evaluation of bone marrow aspirate. The analysis of samples enriched for CD138 cells has improved the detection rate. However, fluorescence in situ hybridization requires several probes and may not be completed due to a limited number of isolated cells. To address the issues experienced with the conventional approach, a novel integrated protocol that consists of whole-genome amplification of DNA isolated from CD138 cells, followed by microarray as well as one fluorescence in situ hybridization assay for balanced IGH gene rearrangements, has been developed. In the present study in a cohort of 56 patients with clinical suspicion for PCN, compared to conventional cytogenetic analysis, this approach provided higher yield in the detection of PCN-related abnormalities, irrespective of the initial percentage of plasma cells. Whole-genome profiling uncovered recurrent chromosomal abnormalities of prognostic value, including unbalanced alterations within the MYC locus, 16q loss, and hypodiploidy, that were not otherwise detectable by conventional methods. The proposed approach is cost-efficient and provides a superior detection rate, required for proper risk stratification and differential diagnosis of PCN regardless of initial plasma cell percentage.
Topics: Humans; Chromosome Aberrations; In Situ Hybridization, Fluorescence; Multiple Myeloma; Neoplasms, Plasma Cell
PubMed: 35940519
DOI: 10.1016/j.jmoldx.2022.07.002 -
Journal of Medical Case Reports Dec 2022Multiple myeloma is a clonal plasma cell proliferation often causing bone lytic lesions. It is sometimes challenging to differentiate these lytic lesions associated with...
OBJECTIVE
Multiple myeloma is a clonal plasma cell proliferation often causing bone lytic lesions. It is sometimes challenging to differentiate these lytic lesions associated with multiple myeloma from bone destruction due to a metastasis. Although coexistence of solid tumors and plasma cell myeloma in one patient has been described, synchronous skeletal metastases from both neoplasms occurring in the same bone lesion is exceptional. Indeed, only one case has been reported in the literature.
CASE PRESENTATION
Herein, we report a case involving a 68-year-old Caucasian male patient admitted to our department for coronavirus disease 2019 infection with incidental finding of multiple lytic bone lesions during hospitalization. Laboratory tests revealed an increased immunoglobulin G kappa M protein and high levels of carbohydrate antigen 19-9. Bone marrow aspiration showed increased atypical plasma cells consistent with multiple myeloma. Percutaneous image-guided biopsy of one of the osteolytic lesions was performed. Pathological examination identified both plasma cell neoplasm and poorly differentiated metastatic carcinoma within the same bone lytic lesions.
CONCLUSION
The present case raises awareness among clinicians and pathologists that clinical and radiologic suspicion of multiple myeloma may be within the spectrum of second primary malignancies.
Topics: Humans; Male; Aged; Multiple Myeloma; COVID-19; Bone Neoplasms; Bone and Bones; Carcinoma
PubMed: 36550523
DOI: 10.1186/s13256-022-03688-x -
Expert Review of Clinical Immunology Jan 2011After the development of a reliable method to detect free light chains in serum, several investigations have been conducted to explore their importance in plasma cell... (Review)
Review
After the development of a reliable method to detect free light chains in serum, several investigations have been conducted to explore their importance in plasma cell dyscrasias (PCD). Detection of monoclonal proteins is very important in the diagnosis and management of PCD, which include a broad spectrum of diseases such as multiple myeloma and also benign, premalignant disorders like monoclonal gammopathy of undetermined significance. The aim of this article is to summarize the recent studies and to highlight the importance of free light chain analysis in the diagnosis of PCD, its prognostic value and role in the management of this group of diseases.
Topics: Humans; Immunoglobulin Light Chains; Multiple Myeloma; Neoplasms, Plasma Cell; Plasmacytoma; Prognosis
PubMed: 21162651
DOI: 10.1586/eci.10.80 -
Stem Cells (Dayton, Ohio) Aug 1995Plasma cell neoplasia includes monoclonal gammopathy of undetermined significance (MGUS), multiple myeloma (MM), and Waldenström's macroglobulinemia (WM). In MGUS, a... (Review)
Review
Plasma cell neoplasia includes monoclonal gammopathy of undetermined significance (MGUS), multiple myeloma (MM), and Waldenström's macroglobulinemia (WM). In MGUS, a large, stable clone does not cause symptoms; additional change(s) is/are required to convert this clone into a progressively expanding tumor that becomes symptomatic, as in MM or WM. The prevalence of MGUS (i.e., the number of cases in a defined population at a certain time) is 20 times greater than MM. The incidence (i.e., the number of cases developing in a defined population in a defined period) has not been determined for MGUS. Between 1960 and 1969, the average, annual, age-adjusted (1950 standard) incidence of MM in Malmö, Sweden was 3.4/10(5). The incidence of MM is strongly influenced by the age and race of the population, and the diagnostic services available. MM is a disease of old age; it rarely occurs before the age of 40. The incidence of MM increases rapidly with age, is lowest among the Chinese and Japanese, intermediate among Caucasians in America and Europe, and highest among blacks in the USA. The striking differences in the incidence of MM in different countries appears to be due to racial rather than environmental differences, since the low incidence among the Chinese and Japanese in Asia has migrated with them to the Bay area of California and to Hawaii. The high incidence of MM in USA black males (10.8/10(5)) and females (7.2/10(5)) is more than twice the rate for whites in the same regions.(ABSTRACT TRUNCATED AT 250 WORDS)
Topics: Adult; Age Factors; Aged; Aged, 80 and over; Animals; Antigens; Disease Models, Animal; Epidemiologic Factors; Female; HLA Antigens; Humans; Male; Mice; Middle Aged; Multiple Myeloma; Paraproteinemias; Racial Groups; Waldenstrom Macroglobulinemia
PubMed: 8520495
DOI: No ID Found -
Skeletal Radiology Jan 2007Myeloma is the most common primary bone malignancy. It accounts for 10% of all hematological malignancies and 1% of all cancers. In the United States, there are an... (Review)
Review
Myeloma is the most common primary bone malignancy. It accounts for 10% of all hematological malignancies and 1% of all cancers. In the United States, there are an estimated 16,000 new cases and over 11,000 deaths yearly due to myeloma. Plasma cell dyscrasias manifest themselves in a variety of forms that range from MGUS (monoclonal gammopathy of undetermined significance) and smoldering myeloma that require no therapy, to the "malignant" form of multiple myeloma. The role of imaging in the management of myeloma includes: an assessment of the extent of intramedullary bone disease, detection of any extramedullary foci, and severity of the disease at presentation; the identification and characterization of complications; subsequent assessment of disease status. This review will focus on the use of PET/CT and MR imaging for myeloma patients at the time of initial diagnosis and for follow-up management, based on current reports in the literature and our practice at the Marlene and Stewart Greenebaum Cancer Center, University of Maryland Medical Center in Baltimore, USA.
Topics: Bone Neoplasms; Humans; Magnetic Resonance Imaging; Multiple Myeloma; Neoplasm Staging; Positron-Emission Tomography; Reproducibility of Results; Tomography, X-Ray Computed
PubMed: 16915386
DOI: 10.1007/s00256-006-0184-3 -
The Medical Clinics of North America May 1984Multiple myeloma is a malignant neoplasm of plasma cells involving bone and bone marrow, frequently leading to extensive skeletal destruction, bone marrow failure, renal... (Review)
Review
Multiple myeloma is a malignant neoplasm of plasma cells involving bone and bone marrow, frequently leading to extensive skeletal destruction, bone marrow failure, renal dysfunction, and problems related to the monoclonal myeloma proteins. Vigilant supportive care and effective chemotherapy can prolong survival and improve the quality of life in most patients.
Topics: Aged; Amyloidosis; Antineoplastic Combined Chemotherapy Protocols; Bacterial Infections; Blood Proteins; Carpal Tunnel Syndrome; Female; Humans; Immunoglobulins; Kidney Diseases; Leukemia, Plasma Cell; Male; Middle Aged; Multiple Myeloma; Plasmacytoma; Spinal Cord Compression
PubMed: 6379340
DOI: 10.1016/s0025-7125(16)31127-0 -
Journal of Clinical and Experimental... 2023To clarify the significance of bone marrow fibrosis and amyloid deposition in plasma cell neoplasm, a retrospective cross-sectional study for a period of 3 years was...
To clarify the significance of bone marrow fibrosis and amyloid deposition in plasma cell neoplasm, a retrospective cross-sectional study for a period of 3 years was conducted. Patients who underwent bone marrow aspiration and biopsy with suspicion of plasma cell neoplasms were included in the study. The bone marrow findings were correlated with clinical profile of the patient along with biochemical parameters, cytogenetics, Fluorescent in situ hybridization (FISH) wherever available. A total of 273 bone marrow aspirates and biopsies of patients with suspected plasma cell neoplasms were analyzed. There were 181 male patients and 92 female patients (Male: Female = 1.96: 1). There were 245 cases of multiple myeloma (89.7%), 8 cases of primary amyloidosis (2.9%) and 6 monoclonal gammopathy of undetermined significance (MGUS) (2.1%), 5 cases of plasmacytoma (1.8%) and 4 cases of smouldering myeloma (1.4%), 5 cases of POEMS syndrome (1.8%). Bone marrow fibrosis was noted in 12 patients at diagnosis (4.3%). Among the parameters studied, only the mean Hemoglobin was significantly low in patients with marrow fibrosis. Amyloid deposition in various organs including bone marrow, kidney, liver etc., were noted in 17 patients overall (6.2%). In conclusion, the incidence of fibrosis (4.3%) and amyloidosis (6.2%) associated with plasma cell neoplasms were much lower in our study as compared to published studies.
Topics: Humans; Male; Female; Multiple Myeloma; Plasmacytoma; Primary Myelofibrosis; In Situ Hybridization, Fluorescence; Retrospective Studies; Cross-Sectional Studies; Plasma Cells
PubMed: 38148011
DOI: 10.3960/jslrt.23029 -
Diagnostic Pathology Feb 2018Plasma cell myeloma (PCM) is a neoplasm of terminally differentiated B lymphocytes with molecular heterogeneity. Although therapy-related myeloid neoplasms are common in...
BACKGROUND
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.
CASE PRESENTATION
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.
CONCLUSION
To our knowledge, this is the first case of myeloid sarcoma transdifferentiated from plasma cell neoplasm. Our findings in this unique case suggest clonal evolution of plasma cell myeloma to myeloma neoplasm and the potential roles of abnormal RAS/RAF signaling pathway in lineage switch or transdifferentiation.
Topics: Cell Transformation, Neoplastic; Chromosome Aberrations; Clonal Evolution; High-Throughput Nucleotide Sequencing; Humans; Male; Middle Aged; Multiple Myeloma; Pathology, Molecular; Plasma Cells
PubMed: 29463311
DOI: 10.1186/s13000-018-0692-1 -
Bratislavske Lekarske Listy 2016A neoplastic proliferation of B cell lymphocyte is called plasma cell neoplasms, results from malignant plasma cells transformation in bone marrow. The authors present a...
A neoplastic proliferation of B cell lymphocyte is called plasma cell neoplasms, results from malignant plasma cells transformation in bone marrow. The authors present a clinical study and overview of this pathology in maxillofacial region for six years (Tab. 2, Ref. 14).
Topics: Aged; Bone Neoplasms; Female; Humans; Male; Mandibular Neoplasms; Middle Aged; Multiple Myeloma; Neoplasms, Plasma Cell; Plasma; Plasmacytoma; Treatment Outcome
PubMed: 27546545
DOI: 10.4149/bll_2016_083