Plasma cell myeloma with tumorous liver involvement, presenting as a carcinoma of unknown primary

2020 ◽  
pp. 1-3
Keyword(s):  
Plasma Cell ◽  
Correct Diagnosis ◽  
Elevated Serum ◽  
Serum Levels ◽  
Unknown Primary ◽  
Plasma Cell Myeloma ◽  
Diagnostic Challenge ◽  
Tumor Mass ◽  
Carcinoma Of Unknown Primary ◽  
Bone Marrow Trephine Biopsy

Background: A hepatic tumor mass by plasma cell myeloma is rare and is reported in 16% of patients with plasma cell myeloma. Unusual morphological variants of plasma cell myeloma in such a localisation may be a diagnostic challenge. Case presentation: A 60-year-old woman with low-back pain had MRT and CT scan results showing osteo-destructive lesions on different sites and a tumor mass in the liver. Her clinical presentation was classified as a carcinoma of unknown primary. Elevated serum-levels of the immunoglobulin heavy chain IgA and the immunoglobulin light chain kappa gave rise for a bone marrow trephine biopsy, revealing infiltration by a plasma cell myeloma with typical morphology (Fig.1A). Though the histological specimen of the liver resembled a clear cell carcinoma, the immunophenotype revealed plasma cell myeloma. Conclusion: In tumours with an extraordinary morphology and not conclusive immunohistochemical results, the use of plasma cell antibodies may lead to the correct diagnosis.

scholarly journals CD138-negative plasma cell myeloma: a diagnostic challenge and a unique entity

2019 ◽  
Vol 12 (11) ◽  
pp. e232233
Author(s):  
Audi Francesca Setiadi ◽  
Yuri Sheikine
Keyword(s):  
B Cell ◽  
Plasma Cell ◽  
Correct Diagnosis ◽  
In Situ Hybridisation ◽  
Careful Analysis ◽  
Fluorescence In Situ Hybridisation ◽  
Plasma Cell Myeloma ◽  
Diagnostic Challenge ◽  
Mantle Cell ◽  
Plasma Cell Neoplasms

Plasma cell neoplasms may exhibit variations in morphology and immunophenotype, which can mimic mature B-cell lymphoproliferative disorders and pose diagnostic challenges. This case illustrates a rare entity of plasma cell myeloma, where the entire plasma cell population exhibited lymphoid morphology, negativity for CD138, positivity for CD20 and cyclin D1, and positive fluorescence in situ hybridisation for t(11;14) and del(17 p), mimicking a mature B-cell lymphoproliferative disorder, in particular mantle cell lymphoma. In this case, a careful analysis of flow cytometry gating strategies and use of other ancillary tests were keys for correct diagnosis. In addition to the diagnostic implications due to its rarity, CD138-negative plasma cell myeloma may represent a unique entity, which is associated with ‘stem cell’-like clonogenic properties, more aggressive clinical behaviour and resistance to chemotherapy.

scholarly journals Exploratory Analysis of CA125-MGL and –STn Glycoforms in the Differential Diagnostics of Pelvic Masses

2020 ◽  
Vol 5 (2) ◽  
pp. 263-272 ◽  
Author(s):  
Liina Salminen ◽  
Nimrah Nadeem ◽  
Anne Lone Rolfsen ◽  
Anne Dørum ◽  
Teemu D Laajala ◽  
...  
Keyword(s):  
False Positive Rate ◽  
Elevated Serum ◽  
Pelvic Mass ◽  
Serum Levels ◽  
Differential Diagnostics ◽  
Cancer Antigen 125 ◽  
Diagnostic Challenge ◽  
Preoperative Serum ◽  
Pelvic Masses ◽  
Benign Ovarian Tumors

Abstract Background The cancer antigen 125 (CA125) immunoassay (IA) does not distinguish epithelial ovarian cancer (EOC) from benign disease with the sensitivity needed in clinical practice. In recent studies, glycoforms of CA125 have shown potential as biomarkers in EOC. Here, we assessed the diagnostic abilities of two recently developed CA125 glycoform assays for patients with a pelvic mass. Detailed analysis was further conducted for postmenopausal patients with marginally elevated conventionally measured CA125 levels, as this subgroup presents a diagnostic challenge in the clinical setting. Methods Our study population contained 549 patients diagnosed with EOC, benign ovarian tumors, and endometriosis. Of these, 288 patients were postmenopausal, and 98 of them presented with marginally elevated serum levels of conventionally measured CA125 at diagnosis. Preoperative serum levels of conventionally measured CA125 and its glycoforms (CA125-MGL and CA125-STn) were determined. Results The CA125-STn assay identified EOC significantly better than the conventional CA125-IA in postmenopausal patients (85% vs. 74% sensitivity at a fixed specificity of 90%, P = 0.0009). Further, both glycoform assays had superior AUCs compared to the conventional CA125-IA in postmenopausal patients with marginally elevated CA125. Importantly, the glycoform assays reduced the false positive rate of the conventional CA125-IA. Conclusions The results indicate that the CA125 glycoform assays markedly improve the performance of the conventional CA125-IA in the differential diagnosis of pelvic masses. This result is especially valuable when CA125 is marginally elevated.

scholarly journals Liver involvement by plasma cell myeloma mimicking clear cell carcinoma, a potential pitfall.

2020 ◽  
Author(s):  
Fotini-Rosi Vagena ◽  
Heinz Sill ◽  
Christine Beham-Schmid
Keyword(s):  
Bone Marrow ◽  
Cell Carcinoma ◽  
Plasma Cell ◽  
Clear Cell ◽  
Clear Cell Carcinoma ◽  
Correct Diagnosis ◽  
Low Back ◽  
Plasma Cell Myeloma ◽  
Morphological Variants ◽  
Histological Specimen

Abstract Background: Unusual morphological variants of plasma cell myeloma are a diagnostic challenge.Case presentation: A 60 year old woman with low-back pain was diagnosed with a plasma cell myeloma in the bone marrow. Concurrently a tumour was found in the liver. The histological specimen of the liver resembled a clear cell carcinoma, but the immunophenotype revealed plasma cell myeloma.Conclusion: In tumours with an extraordinary morphology and not conclusive immunohistochemical results the use of plasma cell antibodies may lead to the correct diagnosis.

scholarly journals Mieloma de células plasmáticas secretor de IgD, un reto diagnóstico. Reporte de un caso

2013 ◽  
Vol 38 (4) ◽  
pp. 268-272
Author(s):  
Lina María Gaviria Jaramillo ◽  
Beatriz Cárdenas Moreno ◽  
Maria Cecilia Mondragón ◽  
Natalia María Guevara Arismendy
Keyword(s):  
Multiple Myeloma ◽  
Plasma Cell ◽  
Urine Analysis ◽  
Clinical Manifestations ◽  
Poor Response ◽  
Serum Levels ◽  
Final Diagnosis ◽  
Bone Lesions ◽  
Plasma Cell Myeloma ◽  
Immunoglobulin D

RESUMEN El mieloma de células plasmáticas secretor de IgD es una neoplasia de células plasmáticas poco frecuente y agresivo, generalmente afecta individuos más jóvenes que los demás mielomas. Es de difícil diagnóstico, ya que no se observa el pico de proteína monoclonal característico de los mielomas; no obstante, la inmunofijación, la cuantificación de IgD y el estudio de orina son pruebas de gran utilidad para su diagnóstico. Con respecto a las manifestaciones clínicas, es frecuente anemia, falla renal y múltiples lesiones óseas; además, la enfermedad tiene un curso agresivo, con poca respuesta a la quimioterapia convencional. A continuación, se describe un caso de una mujer de 57 años con antecedentes de dolor óseo y múltiples lesiones líticas óseas, quien fue diagnosticada con mieloma secretor de IgD a partir de la electroforesis de proteínas en suero, la inmunofijación en suero y orina, la cuantificación de IgD y el estudio medular. ABSTRACT Immunoglobulin D plasma cell myeloma is a rare and aggressive plasma cell disorder, which usually occurs in younger patients than other myelomas. Immunoglobulin D multiple myeloma is usually misdiagnosed because of the lack of a typical monoclonal protein spike; however, immunofixation electrophoresis, Immunoglobulin D serum levels and urine analysis are highly useful for diagnosis of the disease. Regarding clinical manifestations, patients commonly have anemia, renal failure, and multiple bone lesions. In addition, patients show an aggressive clinical course with poor response to conventional treatment and unfavorable prognosis. We report a 57 years-old female who presented with bone pain and multiple osteolytic bone lesions; according to serum protein electrophoresis, serum and urine immunofixation, IgD serum levels, and bone marrow biopsy, a final diagnosis of immunoglobulin D plasma cell myeloma was made. KEY WORDS Multiple myeloma, immunoglobulin D, renal insufficiency  

Diagnostic and Clinical Considerations in Concomitant Bone Marrow Involvement by Plasma Cell Myeloma and Chronic Lymphocytic Leukemia/Monoclonal B-Cell Lymphocytosis: A Series of 15 Cases and Review of Literature

2013 ◽  
Vol 137 (4) ◽  
pp. 503-517 ◽  
Author(s):  
Christopher L. Alley ◽  
Endi Wang ◽  
Cherie H. Dunphy ◽  
Jerald Z. Gong ◽  
Chuanyi M. Lu ◽  
...  
Keyword(s):  
Bone Marrow ◽  
B Cells ◽  
Chronic Lymphocytic Leukemia ◽  
Plasma Cell ◽  
Plasma Cells ◽  
Correct Diagnosis ◽  
Bone Marrow Involvement ◽  
Rare Event ◽  
Lymphocytic Leukemia ◽  
Plasma Cell Myeloma

Context.—Plasma cell myeloma and chronic lymphocytic leukemia are both common hematologic malignancies, sharing many epidemiologic features. Concomitant detection of the 2 conditions poses special diagnostic challenges for the pathologist. Objective.—To describe the pathologic findings in cases of concomitant bone marrow involvement by myeloma and CD5+ monoclonal B cells and to outline the differential diagnostic possibilities, suggest a workup for correct diagnosis, and examine clinical outcome. Design.—Fifteen cases that met the diagnostic criteria were identified from pathology databases at 4 participating institutions. Morphologic findings were reviewed, additional immunohistochemical stains performed, and flow cytometric, cytogenetic, and relevant laboratory and clinical information was summarized. Previously published cases were searched from electronic databases and cross-references. Results.—Most patients (13 of 15) were older males. Often (11 of 15) they presented clinically with myeloma, yet had both monotypic plasma cells and B cells in the diagnostic marrow. In 4 patients, myeloma developed 24 months or later after chronic lymphocytic leukemia. In 7 patients, myeloma and CD5+ B cells showed identical immunoglobulin light-chain restriction. Primary differential diagnoses include lymphoplasmacytic lymphoma, marginal zone lymphoma, and chronic lymphocytic leukemia with plasmacytoid differentiation. CD56 and/or cyclin D1 expression by plasma cells was helpful for correct diagnosis. Most patients in our cohort and published reports were treated for plasma cell myeloma. Conclusions.—Concomitant detection of myeloma and chronic lymphocytic leukemia in the bone marrow is a rare event, which must be carefully differentiated from lymphomas with lymphoplasmacytic differentiation for correct treatment.

scholarly journals Rickets guidance: part I—diagnostic workup

2021 ◽  
Author(s):  
Dieter Haffner ◽  
Maren Leifheit-Nestler ◽  
Andrea Grund ◽  
Dirk Schnabel
Keyword(s):  
Vitamin D ◽  
Clinical Symptoms ◽  
Fibroblast Growth Factor 23 ◽  
Correct Diagnosis ◽  
Elevated Serum ◽  
Growth Failure ◽  
Serum Levels ◽  
Calcium Deficiency ◽  
X Rays ◽  
Vitamin D Metabolism

AbstractRickets is a disease of the growing child arising from alterations in calcium and phosphate homeostasis resulting in impaired apoptosis of hypertrophic chondrocytes in the growth plate. Its symptoms depend on the patients’ age, duration of disease, and underlying disorder. Common features include thickened wrists and ankles due to widened metaphyses, growth failure, bone pain, muscle weakness, waddling gait, and leg bowing. Affected infants often show delayed closure of the fontanelles, frontal bossing, and craniotabes. The diagnosis of rickets is based on the presence of these typical clinical symptoms and radiological findings on X-rays of the wrist or knee, showing metaphyseal fraying and widening of growth plates, in conjunction with elevated serum levels of alkaline phosphatase. Nutritional rickets due to vitamin D deficiency and/or dietary calcium deficiency is the most common cause of rickets. Currently, more than 20 acquired or hereditary causes of rickets are known. The latter are due to mutations in genes involved in vitamin D metabolism or action, renal phosphate reabsorption, or synthesis, or degradation of the phosphaturic hormone fibroblast growth factor 23 (FGF23). There is a substantial overlap in the clinical features between the various entities, requiring a thorough workup using biochemical analyses and, if necessary, genetic tests. Part I of this review focuses on the etiology, pathophysiology and clinical findings of rickets followed by the presentation of a diagnostic approach for correct diagnosis. Part II focuses on the management of rickets, including new therapeutic approaches based on recent clinical practice guidelines.

scholarly journals The Cytoskeletal Elements MAP2 and NF-L Show Substantial Alterations in Different Stroke Models While Elevated Serum Levels Highlight Especially MAP2 as a Sensitive Biomarker in Stroke Patients

2021 ◽  
Author(s):  
Bianca Mages ◽  
Thomas Fuhs ◽  
Susanne Aleithe ◽  
Alexandra Blietz ◽  
Constance Hobusch ◽  
...  
Keyword(s):  
Animal Models ◽  
Neuronal Damage ◽  
Degradation Products ◽  
Focal Cerebral Ischemia ◽  
Elevated Serum ◽  
Serum Levels ◽  
Ultrastructural Level ◽  
Stroke Patients ◽  
Protein Levels ◽  
Cytoskeletal Elements

AbstractIn the setting of ischemic stroke, the neurofilament subunit NF-L and the microtubule-associated protein MAP2 have proven to be exceptionally ischemia-sensitive elements of the neuronal cytoskeleton. Since alterations of the cytoskeleton have been linked to the transition from reversible to irreversible tissue damage, the present study investigates underlying time- and region-specific alterations of NF-L and MAP2 in different animal models of focal cerebral ischemia. Although NF-L is increasingly established as a clinical stroke biomarker, MAP2 serum measurements after stroke are still lacking. Therefore, the present study further compares serum levels of MAP2 with NF-L in stroke patients. In the applied animal models, MAP2-related immunofluorescence intensities were decreased in ischemic areas, whereas the abundance of NF-L degradation products accounted for an increase of NF-L-related immunofluorescence intensity. Accordingly, Western blot analyses of ischemic areas revealed decreased protein levels of both MAP2 and NF-L. The cytoskeletal alterations are further reflected at an ultrastructural level as indicated by a significant reduction of detectable neurofilaments in cortical axons of ischemia-affected areas. Moreover, atomic force microscopy measurements confirmed altered mechanical properties as indicated by a decreased elastic strength in ischemia-affected tissue. In addition to the results from the animal models, stroke patients exhibited significantly elevated serum levels of MAP2, which increased with infarct size, whereas serum levels of NF-L did not differ significantly. Thus, MAP2 appears to be a more sensitive stroke biomarker than NF-L, especially for early neuronal damage. This perspective is strengthened by the results from the animal models, showing MAP2-related alterations at earlier time points compared to NF-L. The profound ischemia-induced alterations further qualify both cytoskeletal elements as promising targets for neuroprotective therapies.

scholarly journals Testicular Metastatic Sarcomatoid Carcinoma of Unknown Primary: A Case Report

2020 ◽  
Vol 06 (03) ◽  
pp. E62-E65
Author(s):  
Leo Nygaard ◽  
Søren Rafael Rafaelsen ◽  
Jan Lindebjerg ◽  
Malene Roland Vils Pedersen
Keyword(s):  
Case Report ◽  
Sarcomatoid Carcinoma ◽  
Unknown Primary ◽  
Carcinoma Of Unknown Primary
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