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Aberrant immunophenotype

Charlotte Lees, Colm Keane, Maher K Gandhi, Jay Gunawardana
Primary mediastinal B-cell lymphoma (PMBCL) is a distinct disease closely related to classical nodular sclerosing Hodgkin lymphoma. Conventional diagnostic paradigms utilising clinical, morphological and immunophenotypical features can be challenging due to overlapping features with other B-cell lymphomas. Reliable diagnostic and prognostic biomarkers that are applicable to the conventional diagnostic laboratory are largely lacking. Nuclear factor kappa B (NF-κB) and Janus kinase/signal transducers and activators of transcription (JAK-STAT) signalling pathways are characteristically dysregulated in PMBCL and implicated in several aspects of disease pathogenesis, and the latter pathway in host immune evasion...
February 10, 2019: British Journal of Haematology
Janina Burk, Heidrun Holland, Anne F Lauermann, Tobias May, Philipp Siedlaczek, Verena Charwat, Cornelia Kasper
Multipotent mesenchymal stromal cells (MSC) and MSC-derived products have emerged as promising therapeutic tools. To fully exploit their potential, further mechanistic studies are still necessary and bioprocessing needs to be optimized, which requires an abundant supply of functional MSC for basic research. To address this need, here we used a novel technology to establish a human adipose-derived MSC line with functional characteristics representative of primary MSC. Primary MSC were isolated and subjected to lentiviral transduction with a library of expansion genes...
February 10, 2019: Biotechnology and Bioengineering
Prabakaran Paulraj, Steven Diamond, Faisal Razzaqi, Dan Ozeran, Maria Longhurst, Erica F Andersen, Reha M Toydemir, Bo Hong
The t(7;21)(p22;q22) resulting in RUNX1-USP42 fusion, is a rare but recurrent cytogenetic abnormality associated with acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS). The prognostic significance of this translocation has not been well established due to the limited number of patients. Herein, we report three pediatric AML patients with t(7;21)(p22;q22). All three patients presented with pancytopenia or leukopenia at diagnosis, accompanied by abnormal immunophenotypic expression of CD7 and CD56 on leukemic blasts...
January 31, 2019: Genes, Chromosomes & Cancer
Joeri de Hoog, Willem A Dik, Lucy Lu, Kim C Heezen, Josianne C Ten Berge, Sigrid M A Swagemakers, Peter J van der Spek, Jacques J M van Dongen, Vincent H J van der Velden, Aniki Rothova, Anton W Langerak
PURPOSE: Primary vitreoretinal lymphoma [(P)VRL]) is a rare malignancy of the eye localized in the retina, vitreous or choroid. Here, we aim to determine the value of the combination of innovative diagnostic methods for accurate differentiation between (P)VRL and non-(P)VRL in patients with suspect uveitis or vitritis. METHODS: Multicolour flow cytometric immunophenotyping of cells in the vitreous samples was performed using the EuroFlow small sample tube. Additionally, cytokines/chemokines and growth factors were measured in the vitreous specimens using a multiplex immunoassay...
January 27, 2019: Acta Ophthalmologica
Marketa Zaliova, Jan Stuchly, Lucie Winkowska, Alena Musilova, Karel Fiser, Martina Slamova, Julia Starkova, Martina Vaskova, Ondrej Hrusak, Lucie Sramkova, Jan Stary, Jan Zuna, Jan Trka
Novel biological subtypes and clinically important genetic aberrations (druggable lesions, prognostic factors) have been described in B-other acute lymphoblastic leukemia during the last decade; however, due to a lack of studies on unselected cohorts, their population frequency and mutual associations remain to be established. We studied 110 consecutively diagnosed and uniformly treated childhood B-other patients using single nucleotide polymorphism arrays and whole exome/transcriptome sequencing. The frequency of DUX4-rearranged, BCR-ABL1-like, ZNF384-rearranged, ETV6-RUNX1-like, iAMP21 and MEF2D-rearranged subtypes was 27%, 15%, 5%, 5%, 4% and 2%, respectively; 43% of cases were not classified into any of these subtypes (B-rest)...
January 10, 2019: Haematologica
Catherine Cargo, Matthew Cullen, Jan Taylor, Mike Short, Paul Glover, Suzan Van Hoppe, Alex Smith, Paul Evans, Simon Crouch
The diagnosis of chronic myelomonocytic leukaemia (CMML) remains centred on morphology, meaning the distinction from a reactive monocytosis is challenging. Mutational analysis and immunophenotyping have been proposed as potential tools for diagnosis however have not been formally assessed in combination. We aimed to investigate the clinical utility of these technologies by performing targeted sequencing, in parallel to current gold standard techniques, on consecutive samples referred for investigation of monocytosis over a 2-year period (n=283)...
January 3, 2019: Blood
N J H Tan, I S Y Sun, S W Low, C H Kuick, K T E Chang, C L Tan
Solitary fibrous tumors/ hemangiopericytomas (SFT/HPC) are mesenchymal tumors that share a common genetic aberration and very rarely undergo dedifferentiation. We report a unique case of an intracranial anaplastic SFT/HPC with de-novo dedifferentiation, which pursued a rapidly fatal clinical course in a 41-year-old lady. The dedifferentiated component comprised a focal area of glandular formation with epithelial immunophenotype acquisition. The distinct biphasic pattern of the tumor imparted great diagnostic challenges to the pathologists...
January 2, 2019: Brain Tumor Pathology
Adetokunbo Oluwasanjo, Saritha Kartan, William Johnson, Onder Alpdogan, Alejandro Gru, Anjali Mishra, Bradley M Haverkos, Jerald Gong, Pierluigi Porcu
Peripheral T-cell lymphoma, not otherwise specified (PTCL-NOS) is a World Health Organization (WHO)-defined diagnostic category within the highly heterogeneous group of mature post-thymic T-cell neoplasms. It is the most common subtype of mature post-thymic T-cell neoplasms globally, accounting for up to 35% of PTCL cases in Europe and North America. PTCL-NOS is a diagnosis of exclusion, comprising several disease entities that differ in biology, clinical presentation, and outcome. The diagnosis of PTCL-NOS is made based on the presence of typical histopathological features of lymphoma, an aberrant T-cell immunophenotype, often with a loss of CD5 and CD7, and a clonal T-cell receptor (TCR) gene rearrangement, in the appropriate clinical context...
2019: Cancer Treatment and Research
Guilin Tang, Shimin Hu, Sa A Wang, Wei Xie, Pei Lin, Jie Xu, Gokce Toruner, Ming Zhao, Jun Gu, Madison Doty, Shaoying Li, L Jeffrey Medeiros, Zhenya Tang
t(3;8)(q26.2;q24) is a rare recurrent cytogenetic abnormality that is associated with myeloid neoplasms. We report 20 patients with t(3;8)(q26.2,q24): eight had therapy-related acute myeloid leukemia (AML), three therapy-related myelodysplastic syndrome, four blast phase of chronic myeloid leukemia, one relapsed AML, one AML transformed from chronic myelomonocytic leukemia, one blast phase of an unclassifiable myeloproliferative neoplasm, one de novo myelodysplastic syndrome, and one de novo AML. Nineteen patients presented with cytopenia...
December 18, 2018: Journal of Molecular Diagnostics: JMD
Jie Zhao, Jian-Wei Liang, Hui-Liang Xue, Shu-Hong Shen, Jing Chen, Yan-Jing Tang, Li-Sha Yu, Huan-Huan Liang, Long-Jun Gu, Jing-Yan Tang, Ben-Shang Li
Acute promyelocytic leukemia (APL) is characterized by t(15;17)(q22;q21), resulting in a PML-RARA fusion that is the master driver of APL. A few cases that cannot be identified with PML-RARA by using conventional methods (karyotype analysis, FISH, and RT-PCR) involve abnormal promyelocytes that are fully in accordance with APL in morphology, cytochemistry, and immunophenotype. To explore the mechanisms involved in pathogenesis and recurrence of morphologically diagnosed APL, we performed comprehensive variant analysis by next-generation sequencing in 111 pediatric patients morphologically diagnosed as APL...
December 21, 2018: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
Rabea Wagener, Julian Seufert, Francesco Raimondi, Susanne Bens, Kortine Kleinheinz, Inga Nagel, Janine Altmüller, Holger Thiele, Daniel Hübschmann, Christian W Kohler, Peter Nürnberg, Rex Au-Yeung, Birgit Burkhardt, Heike Horn, Lorenzo Leoncini, Elaine S Jaffe, German Ott, Grzegorz Rymkiewicz, Matthias Schlesner, Robert B Russell, Wolfram Klapper, Reiner Siebert
The new provisional lymphoma category Burkitt-like lymphoma with 11q aberration recently described comprises cases similar to Burkitt lymphoma (BL) on morphological, immunophenotypic and gene expression level but lacking the IG-MYC translocation. They are characterized by a peculiar imbalance pattern on chromosome 11, but the landscape of mutations is not yet described. Thus, we investigated 15 MYC-negative Burkitt-like lymphoma with 11q aberration (mnBLL,11q,) cases by copy number analysis and whole exome sequencing...
December 19, 2018: Blood
Hemani Jain, Dhanlaxmi Shetty, Hasmukh Jain, Manju Sengar, Navin Khattry, P G Subramanian
Hepatosplenic T-cell lymphoma (HSTL) is a rare subtype of peripheral T-cell lymphoma predominantly seen in young males. This disease presents with isolated hepatosplenomegaly and thrombocytopenia with sinusoidal infiltration of liver and sinusal infiltration of spleen. Immunophenotype shows positivity for CD3, CD7, TCRγδ or TCRαβ, CD38 and double negative for CD4, CD8, TdT, CD5, and CD56. Isochromosome 7q with or without trisomy 8 is seen in HSTL. Recently, ring chromosome 7 has also been identified as a new abnormality...
December 2018: Cancer Genetics
H Sasaki, A Takamura, K Kawahata, T Takashima, K Imai, T Morio, H Kohsaka
OBJECTIVE: Dermatomyositis (DM) is an idiopathic inflammatory myopathy which often involves the lungs. DM is likely to be associated with aberrant T- and B-cell activation in the pathogenesis because of the proven effectiveness of T- and B-cell-targeted treatments. Assuming that the aberrant activation is reflected by biases in the lymphocyte subset repertoires, we aimed to elucidate these biases, especially in relation to clinical features of DM. METHOD: Based on the immunophenotyping standardized by the Human Immunology Project Consortium, untreated 13 DM patients, including seven patients with interstitial lung disease (ILD), and 18 age-matched healthy donors (HDs) were examined for proportions of peripheral blood lymphocyte subsets...
December 5, 2018: Scandinavian Journal of Rheumatology
Jiahao Chen, Yun-Ruei Kao, Daqian Sun, Tihomira I Todorova, David Reynolds, Swathi-Rao Narayanagari, Cristina Montagna, Britta Will, Amit Verma, And Ulrich Steidl
Myelodysplastic syndromes (MDS) frequently progress to acute myeloid leukemia (AML); however, the cells leading to malignant transformation have not been directly elucidated. As progression of MDS to AML in humans provides a biological system to determine the cellular origins and mechanisms of neoplastic transformation, we studied highly fractionated stem cell populations in longitudinal samples of patients with MDS who progressed to AML. Targeted deep sequencing combined with single-cell sequencing of sorted cell populations revealed that stem cells at the MDS stage, including immunophenotypically and functionally defined pre-MDS stem cells (pre-MDS-SC), had a significantly higher subclonal complexity compared to blast cells and contained a large number of aging-related variants...
December 3, 2018: Nature Medicine
Neha Garg, Mrinalini Kotru, Dilip Kumar, Rajesh Pathak, Meera Sikka
INTRODUCTION: Aberrant expression of immunophenotypic markers is commonly found in patients of acute leukemia. T-ALL also shows aberrant markers such as CD13, CD33, CD117, CD10, and CD79a. Morphologically, T-ALL has been categorized into L1, L2, and L3 subtypes. Till now, no study has been done to correlate these markers with morphological features of T-ALL. This study aimed to correlate the expression of aberrant immunophenotypic markers with morphology in T-ALL. MATERIALS AND METHODS: All the cases of T-ALL diagnosed by flow cytometry over a period of 2½ year were taken out from the records of Hematology Section of Department of Pathology of University College of Medical Science and Guru Teg Bahadur Hospital and Max Hospital, Saket...
October 2018: Journal of Laboratory Physicians
Yi Zhou, Andres Moon, Eric Hoyle, Jonathan R Fromm, Xueyan Chen, Lori Soma, Stephen J Salipante, Brent L Wood, David Wu
BACKGROUND: The presence of measurable residual disease after therapy is a significant risk factor of relapse in patients with acute myeloid leukemia (AML). By detecting cells with leukemia-associated immunophenotype (LAIP), multiparameter flow cytometry (MFC) can detect residual leukemia at a level significantly lower than that detected by morphology. However, changes in LAIPs during or after therapy may pose a challenge to MRD testing. AML with mutated NPM1 represents the largest subtype of AML sharing a common leukemogenic mechanism and similar LAIPs...
January 2019: Cytometry. Part B, Clinical Cytometry
Weijie Li, Daniel Dim, Lorien Paulson, Douglas Rivard
AIMS: Intrathyroidal ectopic thymus (ITET) is a rare cause of paediatric thyroid nodules. Although ultrasonography of ITET demonstrates a characteristic appearance similar to that of normal thymus, accurate differentiation from other thyroid nodule etiologies by ultrasonography is difficult, and so that fine needle aspiration (FNA) is usually performed for further analysis. The aim of this study was to evaluate the utility of flow cytometry (FCM) in confirming the diagnosis of ITET in thyroid FNA samples...
November 1, 2018: Journal of Clinical Pathology
Xingen Wang, Chi-Sing Ng, Cuimin Chen, Guangyin Yu, Weihua Yin
BACKGROUND: Indolent T-cell proliferative disorder of the GIT is a rare and provisional entity in the revised WHO 2016 classification. The patients usually have prolonged survival with persistent disease even without any treatment. CASE PRESENTATION: The 46 years old male patient has been followed up for more than 6 years without chemotherapy. Repeated gastrointestinal biopsies showed expansion of the lamina propria extending to the submucosa by small to medium sized lymphocytes with minimal cytologic atypia...
October 20, 2018: Diagnostic Pathology
Ru Feng, Vijaya Raj Bhatt, Kai Fu, Samuel Pirruccello, Ji Yuan
OBJECTIVES: The purpose of this study was to determine whether immunophenotypic profiles detected by flow cytometry are useful in differentiating chronic myelomonocytic leukemia (CMML) from reactive monocytosis, and between CMML subtypes. METHODS: Eight-color flow cytometry was used to immunophenotype blasts, monocytes, and granulocytes in the bone marrow of 34 patients with CMML and 12 patients with reactive monocytosis. RESULTS: Bone marrow myeloblast, promonocyte, and monocyte counts by flow cytometry were significantly higher in the CMML group than in the reactive monocytosis group...
October 17, 2018: Cytometry. Part B, Clinical Cytometry
Rabea Wagener, Cristina López, Kortine Kleinheinz, Julia Bausinger, Sietse M Aukema, Inga Nagel, Umut H Toprak, Julian Seufert, Janine Altmüller, Holger Thiele, Christof Schneider, Julia Kolarova, Jeongbin Park, Daniel Hübschmann, Eva M Murga Penas, Hans G Drexler, Andishe Attarbaschi, Randi Hovland, Eigil Kjeldsen, Michael Kneba, Udo Kontny, Laurence de Leval, Peter Nürnberg, Ilske Oschlies, David Oscier, Brigitte Schlegelberger, Stephan Stilgenbauer, Wilhelm Wössmann, Matthias Schlesner, Birgit Burkhardt, Wolfram Klapper, Elaine S Jaffe, Ralf Küppers, Reiner Siebert
The WHO Classification of Tumours of Haematopoietic and Lymphoid Tissue notes instances of Burkitt lymphoma/leukemia (BL) with IG- MYC rearrangement displaying a B-cell precursor immunophenotype (termed herein "preBLL"). To characterize the molecular pathogenesis of preBLL, we investigated 13 preBLL cases (including 1 cell line), of which 12 were analyzable using genome, exome, and targeted sequencing, imbalance mapping, and DNA methylation profiling. In 5 patients with reads across the IG- MYC breakpoint junctions, we found evidence that the translocation derived from an aberrant VDJ recombination, as is typical for IG translocations arising in B-cell precursors...
November 22, 2018: Blood
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