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Aberrant immunophenotype

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 9 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...
June 19, 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...
June 5, 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
Katharina Kriegsmann, Harald Löffler, Volker Eckstein, Renate Schulz, Sandra Kräker, Ute Braun, Thomas Luft, Ute Hegenbart, Stefan Schönland, Peter Dreger, Alwin Krämer, Anthony D Ho, Carsten Müller-Tidow, Michael Hundemer
OBJECTIVE: To improve monitoring of myeloid neoplasms by flow cytometry-based minimal residual disease (MRD) analysis, we analyzed the significance of leukemia-associated immunophenotype (LAIP) markers in 44 patients. METHODS: In a pilot study cohort, peripheral blood or bone marrow samples from 13 patients with myeloid neoplasms and one case of B lymphoblastic leukemia in complete hematologic remission after allogeneic bone marrow or stem cell transplantation were subjected to selection for leukemia-specific phenotypes by fluorescence-activated cell sorting using individual marker combinations, followed by PCR-based chimerism analysis...
May 24, 2018: European Journal of Haematology
Alba Torres, Mohammed Alshalalfa, Elai Davicioni, Anuj Gupta, Srinivasan Yegnasubramanian, Sarah J Wheelan, Jonathan I Epstein, Angelo M De Marzo, Tamara L Lotan
BACKGROUND: Rare prostate carcinomas aberrantly express p63 and have an immunophenotype intermediate between basal and luminal cells. Here, we performed gene expression profiling on p63-expressing prostatic carcinomas and compared them to usual-type adenocarcinoma. We identify ETS2 as highly expressed in p63-expressing prostatic carcinomas and benign prostate basal cells, with lower expression in luminal cells and primary usual-type adenocarcinomas. METHODS: A total of 8 p63-expressing prostate carcinomas at radical prostatectomy were compared to 358 usual-type adenocarcinomas by gene expression profiling performed on formalin fixed paraffin embedded tumor tissue using Affymetrix 1...
September 2018: Prostate
Marios Papadimitriou, Giannis Mountzios, Christos A Papadimitriou
Triple-negative breast cancer (TNBC) accounts for approximately 15-20% of all breast cancers and is characterized by a lack of immunohistochemical expression of estrogen receptors (ER), progesterone receptors (PR) and HER2. TNBC is associated with poor long-term outcomes compared with other breast cancer subtypes. Many of these tumors are also basal-like cancers which are characterized by an aggressive biological behavior with a distant recurrence peak observed early at 3 years following diagnosis. Furthermore, metastatic TNBC bears a dismal prognosis with an average survival of 12 months...
June 2018: Cancer Treatment Reviews
Francesco Autore, Paolo Strati, Luca Laurenti, Alessandra Ferrajoli
Chronic lymphocytic leukemia is an extremely heterogeneous disease and prognostic factors such as chromosomal abnormalities are important predictors of time to first treatment and survival. Trisomy 12 is the second most frequent aberration detected by fluorescence in situ hybridization at the time of diagnosis (10-25%), and it confers an intermediate prognostic risk, with a median time to first treatment of 33 months and a median overall survival of 114 months. Here, we review the unique morphological, immunophenotypic, and genetic characteristics of patients with chronic lymphocytic leukemia and trisomy 12...
June 2018: Haematologica
A Merino, L Boldú, A Ermens
The pathogenesis of acute myeloid leukaemias (AML) frequently requires at least 3 mutations in different cellular pathways. In many cases, mutations in proliferation/survival mechanisms and differentiation pathways are involved. Genetic aberrations explain the pathogenesis of AML, provide prognostic criteria and guide drug design for future therapy. Since the last update of the World Health Organization (WHO) classification of tumours of the hematopoietic and lymphoid tissues in 2008, there have been many discovers regarding the genomic landscape of AML and molecular assays for the detection of minimal residual disease...
May 2018: International Journal of Laboratory Hematology
Shafinaz Hussein, Tatyana Gindin, Stephen M Lagana, Carolina Arguelles-Grande, Suneeta Krishnareddy, Bachir Alobeid, Suzanne K Lewis, Mahesh M Mansukhani, Peter H R Green, Govind Bhagat
AIMS: Refractory coeliac disease type II (RCDII), a rare complication of coeliac disease (CD) associated with high morbidity, requires identification of a clonal population of phenotypically aberrant intraepithelial lymphocytes (IELs) for diagnosis. However, data regarding the frequency and significance of clonal T cell receptor (TCR) gene rearrangements (TCR-GRs) in small bowel (SB) biopsies of patients without RCDII are limited. METHODS: We analysed results of TCR-GR analyses performed on SB biopsies at our institution over a 3-year period, which were obtained from eight active CD, 172 CD on gluten-free diet (GFD), 33 RCDI, and three RCDII patients and 14 patients without CD...
April 27, 2018: Journal of Clinical Pathology
Yuichiro Hatano, Shinya Fukuda, Hiroshi Makino, Hiroyuki Tomita, Ken-Ichirou Morishige, Akira Hara
BACKGROUND: Although p53 signature, benign-appearing epithelial cells with p53 diffuse expression, is frequently found in the fallopian tubes, the clinical and pathological significance of this lesion in the case of high-grade serous carcinoma (HGSC) patients still remains unclear. CASE PRESENTATION: A 56-year-old woman was referred to the gynecologist on account of abdominal distention. Since radiological and serological workup suggested that her illness was due to advanced ovarian cancer (FIGO Stage IVB), she received neoadjuvant chemotherapy, and the clinical evaluation of the chemotherapeutic response was a partial response...
April 27, 2018: Diagnostic Pathology
Yongyun Li, Qingfeng Shang, Peng Li, Jinfeng Cao, Liqi Zhu, Martine J Jager, Xianqun Fan, Shengfang Ge, Renbing Jia
Conjunctival melanoma (CM) is associated with metastases formation, can be fatal, and occurs in all different races. While cell lines are essential for experimental research, all available CM cell lines are derived from Caucasian patients. Furthermore, they are not derived from metastases. We aimed to establish a new CM cell line from a parotid metastasis in a Han Chinese patient and to depict its characteristics. The novel cell line, CM-AS16, was obtained from a surgical parotid sample and determined as a unique one with short tandem repeat (STR) analysis...
August 2018: Experimental Eye Research
Cristina Mansilla, Elena Soria, Miren Vallejo, Alberto Valiente, Aránzazu Perez-Juana, Amaya Zabalza, Guillermina Hurtado, Francisco Sala, Natalia Ramírez
Multiple myeloma (MM) is a very heterogeneous disease, characterized by multiple cytogenetic aberrations on plasma cells (PC) that have been traditionally used to predict the outcome of the disease. A mayor issue on the analysis of PC is the sometimes low infiltration of these cells in the bone marrow that hampers cytogenetic studies. To solve this problem we have optimized a selection strategy based on PC immunomagnetic isolation that has allowed us to lower to 1% the minimal PC infiltration requirement without loss of purity, enabling to perform genetic analysis...
June 2018: Translational Oncology
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