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Multiple myeloma (MM) is one of the world's most recognized bone marrow (BM) cancers. It is considered a plasma cell dyscrasia in which normal plasma cells transform into malignant cells that produce large quantities of an abnormal immunoglobulin called monoclonal protein better known as M protein. This, in turn, is responsible for many of its bone and kidney-related manifestations. Many translocations are associated with the disease, such as t(11;14), t(4;14), and t(14;16). Of these, the most common is t(11;14). In this subset of MM, there is a specific genetic alteration affecting the CCND1 gene. Typically inactive in plasma cells, this gene, when disrupted, promotes uncontrolled cell proliferation. Simultaneously, there is a reduction in CD38 levels, a protein typically elevated in MM patients. This combination of genetic and protein expression is a defining feature of this subgroup within the MM spectrum. In this report, we present a case of a 75-year-old male who was referred by an oncologist for comprehensive diagnostic testing. He was found to have significant hyperploidy involving trisomy 9 and an extra copy of CCND1 with concomitant trisomy 11q confirming a t(11;14) translocation. Further workup involving cytology revealed that the patient also expressed elevated levels of CD38, which, given this mutation, would be expected to be low in this patient population. We aim to highlight the importance and prognostic value of this mutation and further add to the already growing body of literature associated with this disease.
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http://dx.doi.org/10.7759/cureus.63563 | DOI Listing |
Blood Cell Ther
August 2025
Department of Clinical Hematology and Medical Oncology, Postgraduate Institute Of Medical Education And Research (PGIMER), Chandigarh, India.
Background: Bone marrow (BM) Measurable Residual Disease (MRD) assessments underestimate disease burden in multiple myeloma, as focal lesions can exist outside the marrow. Functional imaging, like positron emission tomography-computed tomography (PET-CT), offers valuable insights into residual disease beyond the marrow. Combining marrow flow cytometry (FCM) with PET-CT for a composite MRD (cMRD) assessment before and after autologous stem cell transplant (ASCT) is expected to provide prognostic information, particularly in settings where patients receive extended duration of anti-myeloma therapy prior to ASCT.
View Article and Find Full Text PDFItal J Dermatol Venerol
August 2025
Section of Dermatology Pistoia-Prato, USL Toscana Centro-Prato Hospital, Prato, Italy.
Am J Hematol
September 2025
Australian Centre for Blood Diseases Monash University, Melbourne, Australia.
Multiple myeloma (MM) is an incurable blood cancer characterized by clonal bone marrow plasmacytosis, hypercalcemia, renal failure, anemia, and osteolytic bone disease. Approximately 20% of NDMM patients, not predicted to have high-risk disease at diagnosis, progress early, despite optimal induction +/- ASCT and lenalidomide maintenance, and are subsequently categorized as functional high-risk (FHR) disease. Standardized risk-stratification models incorporate biomarkers of tumor burden, existence of high-risk cytogenetics, with the presence/absence of plasma cell leukemia/extramedullary disease to attribute high-risk at diagnosis; however, depth/duration of response to novel agent-based induction (NA-IND) as dynamic markers of disease risk have not been defined.
View Article and Find Full Text PDFExp Clin Transplant
August 2025
>From the University Clinic for Nephrology, Faculty of Medicine, Saints Cyril and Methodius University in Skopje, Skopje, North Macedonia.
Posttransplant lymphoproliferative disorders are a serious complication after solid-organ transplant, with a reported incidence from 2% to 20%. Plasma cell neoplasms in solid-organ transplants represent a rare but increasingly serious complication after solid-organ transplant. We report a case of plasmablastic myeloma, a very rare variant of multiple myeloma with aggressive course and poor prognosis.
View Article and Find Full Text PDFNeurol Sci
September 2025
Department of Neurosurgery, The 940, Hospital of Joint Logistics Support Force of Chinese People's Liberation Army, No.333 Nanbinhe Road, Qilihe District, Lanzhou City, Gansu Province, China.