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Plasma cell dyscrasia

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https://www.readbyqxmd.com/read/28542843/next-generation-sequencing-of-a-family-with-a-high-penetrance-of-monoclonal-gammopathies-for-the-identification-of-candidate-risk-alleles
#1
Niccolo Bolli, Matteo Barcella, Erika Salvi, Francesca D'Avila, Antonio Vendramin, Chiara De Philippis, Nikhil C Munshi, Herve Avet-Loiseau, Peter J Campbell, Alberto Mussetti, Cristiana Carniti, Francesco Maura, Cristina Barlassina, Paolo Corradini, Vittorio Montefusco
BACKGROUND: The authors describe a family with a high penetrance of plasma cell dyscrasias, suggesting inheritance of an autosomal dominant risk allele. METHODS: The authors performed whole-exome sequencing and reported on a combined approach aimed at the identification of causative variants and risk loci, using the wealth of data provided by this approach. RESULTS: The authors identified gene mutations and single-nucleotide polymorphisms of potential significance, and pinpointed a known risk locus for myeloma as a potential area of transmissible risk in the family...
May 23, 2017: Cancer
https://www.readbyqxmd.com/read/28512562/morphologic-confounders-and-cd19-negativity-in-a-case-of-hairy-cell-leukemia
#2
Pulkit Rastogi, Sreejesh Sreedharanunni, Uday Yanamandra, Man Updesh Singh Sachdeva, Neelam Varma
OBJECTIVES: We report a case of hairy cell leukemia (HCL) initially misdiagnosed as plasma cell dyscrasia due to various clinical, morphological and immunophenotypic confounders. METHODS AND RESULTS: In a patient diagnosed of marrow plasmacytosis and serum monoclonal protein elsewhere and referred to our hospital, morphological evaluation of bone marrow aspirate smears and trephine biopsy, immunophenotyping, and molecular testing (BRAFV600E mutation) were done. Clinically, the patient was asymptomatic; bone marrow revealed plasmacytosis, mastocytosis, and lymphocytosis with a few "hairy" cells...
2017: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/28505007/al-amyloidoma-of-the-skin-subcutis-cutaneous-amyloidosis-plasma-cell-dyscrasia-or-a-manifestation-of-primary-cutaneous-marginal-zone-lymphoma
#3
Noreen M Walsh, Ian Marie Lano, Peter Green, Christopher Gallant, Sylvia Pasternak, Thai Yen Ly, Luis Requena, Heinz Kutzner, Andreas Chott, Lorenzo Cerroni
It is unclear whether AL amyloidoma of the skin/subcutis represents a distinct entity, an indolent precursor of systemic amyloidosis, or a manifestation of cutaneous marginal zone lymphoma (cMZL). We collected 10 cases of cutaneous AL amyloidoma in order to better characterize the clinicopathologic features of this elusive entity (M:F=4:6; median age: 62.5 y, range: 31 to 82 y). Nine patients had a solitary nodule or plaque on the lower extremity (n=7), upper extremity (n=1), or chin (n=1). One patient had an AL amyloidoma on the right thigh and a second lesion on the right arm showing histopathologic features of cMZL without amyloid deposits...
May 12, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28502031/vitamin-d-and-plasma-cell-dyscrasias-reviewing-the-significance
#4
REVIEW
Nicholas Burwick
Monoclonal gammopathy of undetermined significance (MGUS) is a clonal plasma cell disorder and precursor disease to multiple myeloma and other related cancers. While MGUS is considered a benign disorder, with a low risk of disease progression, patients have altered bone microarchitecture and an increased risk of bone fracture. In addition, alterations in immune function are regularly found to correlate with disease activity. Vitamin D, an important hormone for bone and immune health, is commonly deficient in multiple myeloma patients...
May 13, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28483281/preclinical-data-support-leveraging-cs1-chimeric-antigen-receptor-t-cell-therapy-for-systemic-light-chain-amyloidosis
#5
Michael Rosenzweig, Ryan Urak, Miriam Walter, Laura Lim, James F Sanchez, Amrita Krishnan, Stephen Forman, Xiuli Wang
BACKGROUND AIMS: Light chain amyloidosis (AL) is a protein deposition disorder that is a result of a plasma cell dyscrasia, similar to multiple myeloma (MM). Immunotherapy is an attractive approach because of the low burden of disease, but the optimal target for AL is unclear. CS1 and B-cell maturation antigen (BCMA) are two potential targets because they are expressed on normal plasma cells and MM cells. METHODS: We performed a prospective study evaluating bone marrow specimens of 20 patients with plasma cell diseases, 10 with AL and 10 with MM...
May 5, 2017: Cytotherapy
https://www.readbyqxmd.com/read/28471126/multiple-myeloma-with-an-unusual-oral-presentation
#6
Anjali Nayak, Meghanand T Nayak
Multiple myeloma (MM) is a dyscrasia caused by neoplastic proliferation of somatically mutated plasma cells. Myeloma cells divide and expand within the bone marrow affecting multiple locations in the body where bone marrow is present. Oral manifestations, though common are usually not diagnosed. This report describes rare oral manifestations of multiple myeloma like oral petechiae and gingival swelling presented in a 40-year-old male patient. The diagnosis was established by blood examination & skeletal survey, while oral findings were later correlated with the diagnosis of MM...
July 2016: Journal of Experimental Therapeutics & Oncology
https://www.readbyqxmd.com/read/28469872/perioperative-intravenous-immunoglobulin-treatment-in-a-patient-with-severe-acquired-von-willebrand-syndrome-case-report-and-review-of-the-literature
#7
Eva Jennes, Dorothee Guggenberger, Rainer Zotz, Lora Thompson, Tim H Brümmendorf, Steffen Koschmieder, Edgar Jost
Acquired von Willebrand syndrome may be related to plasma cell dyscrasia and can cause severe bleeding complications. Treatment, for example, with intravenous immunoglobulins may be indicated in selected cases. Physicians treating plasma cell dyscrasia have to be aware of bleeding complications in these patients, and clarification is necessary.
May 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28451433/lenalidomide-induced-eosinophilic-pneumonia
#8
Andrew Toma, Aaron P Rapoport, Allen Burke, Ashutosh Sachdeva
Multiple myeloma is a plasma cell dyscrasia accounting for 10% of haematologic malignancies. Lenalidomide is an immunomodulatory drug analogous to thalidomide that is approved for use in patients with myelodysplastic syndrome, and in combination with dexamethasone for refractory or relapsed multiple myeloma. Lenalidomide is preferred to thalidomide because of reduced toxicity, and pulmonary side effects are considered rare. We present, to our knowledge, an unusual and first reported case of a patient with relapsed multiple myeloma who received lenalidomide after autologous stem cell transplant, then developed eosinophilic pneumonia presenting as dyspnoea, peripheral eosinophilia, and bilateral pulmonary opacities...
July 2017: Respirology Case Reports
https://www.readbyqxmd.com/read/28444965/serum-free-light-chain-quantitative-assays-dilemma-of-a-biomarker
#9
Giovanni Cigliana, Francesca Gulli, Cecilia Napodano, Krizia Pocino, Elena De Santis, Luigi Colacicco, Iole Cordone, Laura Conti, Umberto Basile
BACKGROUND: Serum free light chains detection assays are consistently meeting greater interest for the diagnosis and monitoring of monoclonal gammopathies and plasma cell dyscrasias. Nowadays, there are neither standardized methods nor reference material for the determination of free light chains; for this reason, it is important to compare two different assays used in clinical laboratory. METHODS: We evaluated 300 serum samples from patients with B-cell disorders and compared the analytical performances of both assay...
April 26, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28439985/the-utility-of-mass-fix-to-detect-and-monitor-monoclonal-proteins-in-the-clinic
#10
Paolo Milani, David L Murray, David R Barnidge, Mindy C Kohlhagen, John R Mills, Giampaolo Merlini, Surendra Dasari, Angela Dispenzieri
The detection and quantification of monoclonal-proteins (M-proteins) are necessary for the diagnosis and evaluation of response in plasma cell dyscrasias. Immunoglobulin enrichment-coupled with matrix-assisted laser desorption ionization time-of-flight mass-spectrometry (MASS-FIX) is a simple and inexpensive method to identify M-proteins, but its clinical generalizability has not yet been elucidated. We compared MASS-FIX to protein electrophoresis (PEL), serum/urine immunofixation-electrophoresis (IFE) and quantitative serum free-light chain (FLC) for the identification of M-proteins in different clinical diagnoses...
April 25, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28417905/analytical-criticalities-associated-to-different-immunological-methods-for-serum-free-light-chain-detection-in-plasma-cell-dyscrasias-a-description-of-particular-clinical-cases
#11
Rocco Sabatino, Antonio Perrone, Marco Cuomo, Sandra Liotti, Vittoria Barchiesi, Monica Cantile, Ernesta Cavalcanti
Current criteria for differential diagnosis of multiple myeloma (MM), Monoclonal gammopathy of undetermined significance (MGUS), and smoldering multiple myeloma (SMM) are included in the 2003 guidelines by the International Myeloma Working Group (IMWG). An updated version was then published in 2014, highlighting the importance of serum free light chain (sFLC) detection, as well as the κ/λ ratio as excellent indicators of clonality. At present, two commercial assays for sFLC quantification are available: the Freelite™ assay and the N-Latex assay...
April 12, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28405536/an-unfortunate-polyneuropathy-organomegaly-endocrinopathy-monoclonal-gammopathy-and-skin-change-poems
#12
Faraz Afridi, Jorge Otoya, Samantha F Bunting, Gerard Chaaya
POEMS syndrome is an acronym for polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin changes, which is a rare paraneoplastic disease of monoclonal plasma cells. A mandatory criterion to diagnose POEMS syndrome is the presence of a monoclonal plasma cell dyscrasia in which plasma cell leukemia is the most aggressive form. Early identification of the features of the POEMS syndrome is critical for patients to identify an underlying plasma cell dyscrasias and to reduce the morbidity and mortality of the disease by providing early therapy...
March 8, 2017: Curēus
https://www.readbyqxmd.com/read/28397326/diagnosis-and-management-of-neuropathies-associated-with-plasma-cell-dyscrasias
#13
REVIEW
Evan Rosenbaum, Douglas Marks, Shahzad Raza
Neuropathies associated with plasma cell dyscrasias are a major cause of morbidity for patients managed by medical oncologists. Because of similarities in clinical presentation and on nerve conduction studies, identifying the underlying disease leading to a paraproteinemic neuropathy can often be difficult. In addition, the degree of neurologic deficit does not strictly correlate with the extent of abnormalities on common clinical laboratory testing. Fortunately, with increasing understanding into the biologic mechanisms of underlying hematologic diseases, additional biomarkers have recently been developed, thus improving our diagnostic capacity...
April 10, 2017: Hematological Oncology
https://www.readbyqxmd.com/read/28390534/pet-mr-imaging-of-multiple-myeloma
#14
REVIEW
Shetal N Shah, Jorge D Oldan
PET-magnetic resonance (MR) is a hybrid imaging modality that combines PET and MR. Evidence for this new modality is in the process of being developed, but both component modalities are well tested in the diagnosis and management of multiple myeloma. It allows advanced bimodality imaging of the whole body with an adaptable field of view and it can be used for monitoring plasma cell dyscrasias for progression to multiple myeloma, for assessing disease burden in patients with known multiple myeloma, for assessing response to therapy and relapse after remission, and for radiation therapy treatment planning...
May 2017: Magnetic Resonance Imaging Clinics of North America
https://www.readbyqxmd.com/read/28381142/crystal-storing-histiocytosis
#15
Preithy Uthamalingam, Sangita Mehta
Crystal-storing histiocytosis (CSH) is a rare histiocytic lesion, most often described in association with lymphoid malignancies, especially plasma cell myeloma or lymphomas associated with monoclonal gammopathy. A few cases have also been described in patients without an underlying lymphoid/plasmacytic neoplasm. The histiocytes are characterized by intralysosomal accumulation of crystals composed of whole or part of the immunoglobulin molecule. The pathobiology is largely unclear. It is a rare phenomenon and the available literature is restricted to case reports and a few case series...
February 1, 2017: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28372919/hematologic-malignancies-are-associated-with-adverse-perioperative-outcomes-after-total-hip-arthroplasty
#16
Jared M Newman, Jaiben George, W Trevor North, Suparna M Navale, Alison K Klika, Wael K Barsoum, Carlos A Higuera
BACKGROUND: Advancements in treating hematologic malignancies have improved survival, and these patients may be part of the growing population undergoing total hip arthroplasty (THA). Therefore, the purpose of this study was to evaluate the perioperative outcomes of THA in patients with hematologic malignancies. METHODS: The Nationwide Inpatient Sample identified patients who underwent THA from 2000 to 2011 (n = 2,864,412). Patients diagnosed with any hematologic malignancy (n = 18,012) were further stratified into Hodgkin disease (n = 786), non-Hodgkin lymphoma (n = 5062), plasma cell dyscrasias (n = 2067), leukemia (n = 5644), myeloproliferative neoplasms (n = 3552), and myelodysplastic syndromes (n = 1082)...
March 11, 2017: Journal of Arthroplasty
https://www.readbyqxmd.com/read/28343904/clinical-and-serologic-responses-after-a-two-dose-series-of-high-dose-influenza-vaccine-in-plasma-cell-disorders-a-prospective-single-arm-trial
#17
Andrew R Branagan, Eamon Duffy, Randy A Albrecht, Dennis L Cooper, Stuart Seropian, Terri L Parker, Geliang Gan, Fangyong Li, Daniel Zelterman, Chandra Sekhar Boddupalli, Lin Zhang, Rakesh Verma, Thomas M Ferencz, Madhav V Dhodapkar
BACKGROUND: Patients with multiple myeloma (MM) and other plasma cell disorders are highly susceptible to influenza infections, which are major causes of morbidity in this population, despite the routine administration of a seasonal influenza vaccination. Existing data are limited by small and retrospective studies, which suggest poor seroprotection rates of < 20% after standard influenza vaccination in patients with MM. PATIENTS AND METHODS: Patients with plasma cell dyscrasia (n = 51) were treated with a 2-dose series of high-dose inactivated trivalent influenza vaccine during the 2014 to 2015 influenza season...
May 2017: Clinical Lymphoma, Myeloma & Leukemia
https://www.readbyqxmd.com/read/28341732/novel-recurrent-chromosomal-aberrations-detected-in-clonal-plasma-cells-of-light-chain-amyloidosis-patients-show-potential-adverse-prognostic-effect-first-results-from-a-genome-wide-copy-number-array-analysis
#18
Martin Granzow, Ute Hegenbart, Katrin Hinderhofer, Dirk Hose, Anja Seckinger, Tilmann Bochtler, Kari Hemminki, Hartmut Goldschmidt, Stefan O Schönland, Anna Jauch
Immunoglobulin light chain amyloidosis is a rare plasma cell dyscrasia characterized by deposition of abnormal amyloid fibrils in multiple organs impairing their function. In the largest cohort studied up to now of 118 CD138-purified plasma cell samples from previously untreated immunoglobulin light chain amyloidosis patients, we assessed in parallel copy number alterations using high-density copy number arrays and interphase fluorescence in situ hybridization. We used fluorescence in situ hybridization probes for the IgH translocations t(11;14), t(4;14), and t(14;16) or any other IgH rearrangement as well as numerical aberrations of the chromosome loci 1q21, 8p21, 5p15/5q35, 11q22...
March 24, 2017: Haematologica
https://www.readbyqxmd.com/read/28336182/light-chain-amyloidosis-where-are-the-light-chains-from-and-how-they-play-their-pathogenic-role
#19
REVIEW
Chunlan Zhang, Xufei Huang, Jian Li
Amyloid light-chain (AL) amyloidosis is a plasma-cell dyscrasia, as well as the most common type of systematic amyloidosis. Pathogenic plasma cells that have distinct cytogenetic and molecular properties secrete an excess amount of amyloidogenic light chains. Assisted by post-translational modifications, matrix components, and other environmental factors, these light chains undergo a conformational change that triggers the formation of amyloid fibrils that overrides the extracellular protein quality control system...
March 8, 2017: Blood Reviews
https://www.readbyqxmd.com/read/28299525/poems-syndrome-an-enigma
#20
REVIEW
Rahma Warsame, Uday Yanamandra, Prashant Kapoor
POEMS syndrome is a paraneoplastic disorder secondary to an underlying plasma cell dyscrasia. By definition, all patients with POEMS syndrome must display polyneuropathy and monoclonal plasma cell disorder. In addition, at least one major criterion (Castleman's disease, sclerotic bone lesions, or vascular endothelial growth factor elevation) and one minor criterion (organomegaly, extravascular volume overload, endocrinopathy, skin changes, papilledema, thrombocytosis, or polycythemia) are required for diagnosis...
April 2017: Current Hematologic Malignancy Reports
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