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Aberrant immunophenotype

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 one cell line) of which 12 were analyzable using genome, exome, and targeted sequencing, imbalance mapping, and DNA-methylation profiling. In five patients with reads across the IG- MYC breakpoint junctions we found evidence that the translocation derived from an aberrant VDJ-recombination, as typical for IG translocations arising in B-cell precursors...
October 3, 2018: Blood
Elizabeth M Staley, Alexander Z Feldman, Richard G Koenig, Benjamin Hill
CD5 antigen expression in B-cell acute lymphoblastic leukemia (B-ALL) is exceptionally rare. There are six detailed case reports in the literature, with only 16 cases described. Case series analyzing the frequency of aberrant B-ALL immunophenotypes suggest that this variant may occur in as little as 2-4.5% of all B-ALL cases, with one series having no CD5+ positive cases. Herein we report a case of CD5+ B-ALL in a 15-year-old female, and review the previously reported cases. As limited information is available, more data from prospective clinical trials are required to determine whether CD5 positivity portends a poorer prognosis...
September 30, 2018: Pediatric Blood & Cancer
Lei Shang, Xuejing Chen, Yan Liu, Xiaojin Cai, Yin Shi, Lihui Shi, Yuanyuan Li, Zhen Song, Bin Zheng, Wanchen Sun, Kun Ru, Yingchang Mi, Jianxiang Wang, Huijun Wang
INTRODUCTION: The translocation t(8;21) is one of the most frequent chromosome translocations in AML. Molecular (cyto)genetics is regarded as the gold standard for diagnosis. However, due to the complicated variety of AML-related genetic abnormalities, comprehensive screening for all of these abnormalities may not be cost-effective. Therefore, a flow cytometric (FC) scoring system was generated in this study for rapid screening and diagnosis of t(8;21)AML. METHODS: The immunophenotypic characteristics of leukemic cells and neutrophils in cases with t(8;21) AML or other subtypes of AML were analyzed to find a method for the flow diagnosis of t(8;21) AML...
September 27, 2018: International Journal of Laboratory Hematology
Zhenya Tang, Yan Li, Wei Wang, C Cameron Yin, Guilin Tang, Phyu P Aung, Shimin Hu, Xinyan Lu, Gokce A Toruner, L Jeffrey Medeiros, Joseph D Khoury
BACKGROUND: Chromosomal aberrations at the ETV6 gene locus on 12p13.2 are common in bone marrow samples involved by blastic plasmacytoid dendritic cell neoplasm (BPDCN). However, their pathogenic role, incidence in cutaneous BPDCN lesions, and clinical significance have not been assessed systematically. RESULTS: The study group included 30 BPDCN patients, 25 men and 5 women, with a median age of 64 years. Conventional cytogenetic analysis demonstrated karyotypic aberrancies in 15 cases, of which 8 had chromosomal lesions involving 12p...
September 17, 2018: Leukemia Research
Marijana Skific, Mirna Golemovic, Kristina Crkvenac-Gornik, Radovan Vrhovac, Branka Golubic Cepulic
Due to their ability to induce immunological tolerance in the recipient, mesenchymal stromal cells (MSCs) have been utilized in the treatment of various hematological and immune- and inflammation-mediated diseases. The clinical application of MSCs implies prior in vitro expansion that usually includes the use of fetal bovine serum (FBS). The present study evaluated the effect of different platelet lysate (PL) media content on the biological properties of MSCs. MSCs were isolated from the bone marrow of 13 healthy individuals and subsequently expanded in three different culture conditions (10% PL, 5% PL, 10% FBS) during 4 passages...
2018: Cells, Tissues, Organs
Katelyn C Dannheim, Olga Pozdnyakova, Paola Dal Cin, Olga K Weinberg
AIMS: Cytogenetic and molecular aberrations are the strongest factors in determining outcome in acute myeloid leukaemia (AML). AML with complex karyotype confers a particularly poor prognosis and is associated with morphologic dysplasia. Flow cytometric immunophenotyping (FCI) has been investigated in defining dysplasia within myelodysplastic syndromes, but little is known about immunophenotypic dysplasia in AML and correlation with genetic abnormalities. This study aimed to explore differences in antigen expression by FCI in AML with complex karyotype (AML-CK) and AML with complex karyotype and TP53 mutations (AML-TP53) compared with AML with normal karyotype (AML-NK)...
August 31, 2018: Journal of Clinical Pathology
Kentaro Ohki, Nobutaka Kiyokawa, Yuya Saito, Shinsuke Hirabayashi, Kazuhiko Nakabayashi, Hitoshi Ichikawa, Yukihide Momozawa, Kohji Okamura, Ai Yoshimi, Hiroko Ogata-Kawata, Hiromi Sakamoto, Motohiro Kato, Keitaro Fukushima, Daisuke Hasegawa, Hiroko Fukushima, Masako Imai, Ryosuke Kajiwara, Takashi Koike, Isao Komori, Atsushi Matsui, Makiko Mori, Koichi Moriwaki, Yasushi Noguchi, Myoung-Ja Park, Takahiro Ueda, Shohei Yamamoto, Koichi Matsuda, Teruhiko Yoshida, Kenji Matsumoto, Kenichiro Hata, Michiaki Kubo, Yoichi Matsubara, Hiroyuki Takahashi, Takashi Fukushima, Yasuhide Hayashi, Katsuyoshi Koh, Atsushi Manabe, Akira Ohara
Fusion genes involving MEF2D have recently been identified in precursor B-cell acute lymphoblastic leukemia, mutually exclusive of the common risk stratifying genetic abnormalities, although their true incidence and associated clinical characteristics remains unknown. We identified 16 acute lymphoblastic leukemia cases and 1 lymphoma case harboring MEF2D fusions, including MEF2D-BCL9 (n=10), MEF2D-HNRNPUL1 (n=6) and one novel MEF2D-HNRNPH1 fusion. The incidence of MEF2D fusions overall was 2.4% among consecutive B-cell acute lymphoblastic leukemia patients enrolled onto a single clinical trial...
August 31, 2018: Haematologica
Mathieu Daynac, Malek Chouchane, Hannah Y Collins, Nicole E Murphy, Noemi Andor, Jianqin Niu, Stephen P J Fancy, William B Stallcup, Claudia K Petritsch
Oligodendrocyte progenitor cells (OPC) undergo asymmetric cell division (ACD) to generate one OPC and one differentiating oligodendrocyte (OL) progeny. Loss of pro-mitotic proteoglycan and OPC marker NG2 in the OL progeny is the earliest immunophenotypic change of unknown mechanism that indicates differentiation commitment. Here, we report that expression of the mouse homolog of Drosophila tumor suppressor Lethal giant larvae 1 (Lgl1) is induced during OL differentiation. Lgl1 conditional knockout OPC progeny retain NG2 and show reduced OL differentiation, while undergoing more symmetric self-renewing divisions at the expense of asymmetric divisions...
August 21, 2018: Nature Communications
Xiaoli Mi, Gabriel Griffin, Winston Lee, Sanjay Patel, Robert Ohgami, Chi Young Ok, Sa Wang, Julia T Geyer, Wenbin Xiao, Mikhail Roshal, Jacqueline S Garcia, Lewis B Silverman, Stephen E Sallan, Jon C Aster, Marian H Harris, Olga K Weinberg
The B/T subtype of mixed phenotype acute leukemia (B/T MPAL) is defined by co-expression of antigens of both B- and T-cell lineages on leukemic blasts. Although it has been suggested that multilineage antigen expression portends poor response to chemotherapy, the clinical characteristics and driver mutations that underlie the pathogenesis of this rare subtype of acute leukemia are scarcely known. We identified nine cases of B/T MPAL from multiple institutions and correlated clinical and immunophenotypic findings with next-generation sequencing data...
August 16, 2018: American Journal of Hematology
Sylvia Pasternak, Michael D Carter, Thai Yen Ly, Steve Doucette, Noreen M Walsh
The literature records many examples of Merkel cell carcinoma (MCC) exhibiting aberrant immunohistochemical profiles. These can lead to diagnostic difficulty. The objectives of the current study were (1) to examine the immunohistochemical profile of different subsets of MCC to determine whether predictable subset-specific patterns exist and (2) to establish whether shared immunophenotypic patterns might reveal links between individual subsets, as demonstrated previously at a genetic level. In 52 cases of MCC, stratified by viral status and morphology, we studied 5 markers commonly used in the diagnostic evaluation of these tumors (CK20, CK7, chromogranin, neurofilament and TTF-1)...
July 29, 2018: Human Pathology
Samra Waheed, Jawad Hassan, Maliha Naz, Sidra Maqsood, Madiha Abid, Saira Shan, Muhammad Nadeem, Tahir S Shamsi
Background: Most of the hematological disorders are heterogenous with regard to morphology, immunophenotype, and genetic rearrangements. Multiple recurrent chromosomal aberrations have been identified by conventional cytogenetic analysis, which is now widely recognized as one of the most important diagnostic and prognostic determinants in these patients. Though rarer, complex karyotype has been associated with worst prognosis. Materials and Methods: A total of 1185 bone marrow or peripheral blood cytogenetics samples were taken with different hematological diseases...
2018: Journal of Oncology
Andres M Acosta, Mohamed R H Al Rasheed, Michael R Pins, Kristina R Borgen, Dipti Panchal, Magdalena Rogozinska, Elizabeth L Wiley, Frederick G Behm, Gayatry Mohapatra
Composite neoplasms (CN) are rare and diagnostically challenging lesions that require differentiating between mixed clonal tumors with divergent phenotypes (MT), collision of two independent tumors adjacent to each other (CT) and tumor-to-tumor metastasis (TTM). To that end, pathologists have traditionally used Immunohistochemistry and limited molecular studies, such as Sanger sequencing. Herein we evaluate the potential application of NGS in the differential diagnosis of these rare neoplasms. Four CNs were included in the study...
June 26, 2018: Human Pathology
Diana Chaker, Charbel Mouawad, Albert Azar, Didier Quilliot, Ibrahim Achkar, Ziad Fajloun, Nehman Makdissy
BACKGROUND: Human adipose-derived mesenchymal stem cells (hADSCs) are promising cells that may promote hepatocyte differentiation (Hep-Dif) and improve liver function, but the involvement of Cdc42, a key small RhoGTPase which plays a crucial role in aging, is still not well established. We hypothesized that the inhibition of Cdc42 may rescue the hepatogenic potential of hADSCs derived from aged donors. METHODS: hADSCs isolated from 61 women of different ages were cultured for evaluation of the proliferation of cells, adherence, apoptosis, immunomodulation, immunophenotyping, multipotency, gene expression, and cell function during Hep-Dif...
June 19, 2018: Stem Cell Research & Therapy
Matevz Skerget, Barbara Skopec, Vesna Zadnik, Darja Zontar, Helena Podgornik, Katarina Rebersek, Tadej Furlan, Peter Cernelc
OBJECTIVES: In this retrospective study, we evaluated the impact of CD56, CD117, and CD28 expression on clinical characteristics and survival in newly diagnosed myeloma patients treated with bortezomib-based induction therapy. METHODS: We analyzed 110 myeloma patients. Immunophenotype was determined using panels consisting of CD19/CD38/CD45/CD56/CD138 and CD20, CD28, and CD117 were used additionally. All samples were tested for recurrent chromosomal aberrations...
2018: Acta Haematologica
Alejandro A Gru, Patrick J Voorhess
Anaplastic large-cell lymphoma (ALCL) was first described in 1985 by Stein et al and is a clinically, morphologically, and immunophenotypically heterogeneous neoplasm characterized by ALK expression, rearrangement of the ALK gene, and most characteristically its occurrence in children. Clinically, cutaneous ALK+ ALCL can be divided into primary (cutaneous forms) and the much more common, secondary dissemination by a systemic lymphoma. Systemic ALK+ ALCL represents 10%-15% of childhood non-Hodgkin lymphoma and generally presents with advanced systemic disease...
July 2018: American Journal of Dermatopathology
Anna Szumera-Ciećkiewicz, Grzegorz Rymkiewicz, Beata Grygalewicz, Dorota Jesionek-Kupnicka, Andrzej Gruchała, Bogna Ziarkiewicz-Wróblewska, Krystyna Gałązka, Joanna Reszeć, Katarzyna Borg, Monika Prochorec-Sobieszek
Revision of the fourth edition of the World Health Organisation (WHO) Classification of Haematopoietic and Lymphatic Tissues, which was published in 2017, introduced important changes updating the biology, pathology, genetics, and clinical presentation of aggressive B-cell lymphomas. High grade B-cell lymphomas (HGBLs) replaced B-cell lymphoma, unclassifiable, with features intermediate between diffuse large B-cell lymphoma and Burkitt lymphoma, the new provisional entity Burkitt-like lymphoma with 11q aberration was identified, and some categories were upgraded, e...
2018: Polish Journal of Pathology: Official Journal of the Polish Society of Pathologists
Huifei Liu, Sa A Wang, Ellen J Schlette, Jie Xu, Jeffrey L Jorgensen, C Cameron Yin, Shaoying Li, L Jeffrey Medeiros, Guilin Tang
Chromosome translocation t(16;21)(q24;q22)/RUNX1-RUNX1T3 is an infrequent but recurrent chromosomal abnormality identified in myeloid neoplasms, with only 25 cases have been reported to date. Here, we report eight cases (six women and two men) of myeloid neoplasms associated with t(16;21)(q24;q22): five with therapy-related myeloid neoplasms, two with relapsed acute myeloid leukemia (AML), and one with blast phase of chronic myeloid leukemia. Morphologic and immunophenotypic features include granulocytic dysplasia, blasts with prominent perinuclear hof, large orange-pink granules, long and slim Auer rods, and aberrant expression of CD19...
June 5, 2018: Annals of Hematology
Barina Aqil, Grace Triska, John Frater, Anjum Hassan, Marianna B Ruzinova, Amanda Cashen, Yvette Reese, Friederike Kreisel
CONTEXT.—: Immunophenotypic variations in mantle cell lymphoma (MCL) from the classic CD5+ /CD10- /CD23- /FMC-7+ immunophenotype have been reported in the literature, but correlation with clinical behavior and outcome has not been fully studied. OBJECTIVE.—: To investigate clinicopathologic and prognostic differences between immunophenotypically aberrant MCL and immunophenotypically typical MCL. DESIGN.—: We evaluated differences in clinical presentation, laboratory parameters, prognostic indices, response to initial treatment, and progression-free and overall survival between patients with aberrant MCL and patients with immunophenotypically typical MCL...
October 2018: Archives of Pathology & Laboratory Medicine
Salah Basheer, Manjunatha M Venkataswamy, Rita Christopher, Therese Van Amelsvoort, Shoba Srinath, Satish Chandra Girimaji, Vasanthapuram Ravi
Multiple studies have identified the presence of peripheral immune aberrations in subjects with Autism Spectrum Disorder (ASD). However, comprehensive assessment of these peripheral immune aberrations, in the cellular and systemic compartments, in a single group of subjects with ASD is lacking. We assessed proportions of various subsets of immune cells in peripheral blood (T helper cells, T regulatory cells, B cells, monocytes, Natural Killer cells, dendritic cells) by multi-parametric flow cytometry in 50 children with ASD and compared it with thirty healthy controls matched for age, gender, socio-economic status and body mass index...
August 2018: Psychoneuroendocrinology
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