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https://www.readbyqxmd.com/read/29743177/hypomorphic-rag1-mutations-alter-the-pre-immune-repertoire-at-early-stages-of-lymphoid-development
#1
Lisa M Ott de Bruin, Marita Bosticardo, Alessandro Barbieri, Sherry G Lin, Jared H Rowe, Pietro L Poliani, Kimberly Ching, Daniel Eriksson, Nils Landegren, Olle Kämpe, John P Manis, Luigi D Notarangelo
Hypomorphic RAG1 mutations allowing residual T and B cell development have been found in patients presenting with delayed-onset combined immune deficiency with granulomas and/or autoimmunity (CID-G/AI) and abnormalities of the peripheral T and B cell repertoire. To examine how hypomorphic Rag1 mutations affect the earliest stages of lymphocyte development, we used CRISPR/Cas9 to generate mouse models with equivalent mutations found in patients with CID-G/AI. Immunological characterization showed partial development of T and B lymphocytes, with persistence of naïve cells, preserved serum immunoglobulin, but impaired antibody responses and presence of autoantibodies, thereby recapitulating the phenotype seen in patients with CID-G/AI...
May 9, 2018: Blood
https://www.readbyqxmd.com/read/29699947/evaluation-of-the-diagnostic-value-of-immunoglobulin-clonal-gene-rearrangements-in-patients-with-parotid-gland-malt-lymphoma-using-biomed-2-protocol
#2
Yamin Zhang, Dan Yu, Ke Huang, Chongshang Huang, Hangfei Liu, Xiafei Sun, Jiaxiong Wang, Huiyong Zhu
OBJECTIVES: The aim of this study was to evaluate the diagnostic value of immunoglobulin (Ig) clonal gene rearrangements for mucosa-associated lymphoid tissue (MALT) lymphoma of the parotid gland. STUDY DESIGN: We collected and retrospectively analyzed clinical data of 21 patients referred to our institution between 2009 and 2017. Eight patients had been primarily diagnosed MALT lymphoma of the parotid gland and the remaining patients with lymphoepithelial lesion...
March 21, 2018: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
https://www.readbyqxmd.com/read/29686777/anti-diabetic-effects-of-dung-beetle-glycosaminoglycan-on-db-mice-and-gene-expression-profiling
#3
Mi Young Ahn, Ban Ji Kim, Hyung Joo Yoon, Jae Sam Hwang, Kun-Koo Park
Anti-diabetes activity of Catharsius molossus (Ca, a type of dung beetle) glycosaminoglycan (G) was evaluated to reduce glucose, creatinine kinase, triglyceride and free fatty acid levels in db mice. Diabetic mice in six groups were administrated intraperitoneally: Db heterozygous (Normal), Db homozygous (CON), Heuchys sanguinea glycosaminoglycan (HEG, 5 mg/kg), dung beetle glycosaminoglycan (CaG, 5 mg/kg), bumblebee ( Bombus ignitus ) queen glycosaminoglycan (IQG, 5 mg/kg) and metformin (10 mg/kg), for 1 month...
April 2018: Toxicological Research
https://www.readbyqxmd.com/read/29664669/primary-nonsecretory-plasma-cell-leukemia-with-multiple-chromosomal-abnormalities-a-case-report
#4
Satoshi Nakayama, Tomohiro Oda, Shinya Minabe, Yukiharu Bamba, Haruko Ukawa, Rika Sato, Masaki Kawabata, Toshikatsu Horiuchi, Junichi Watanabe, Fumihiko Kimura, Hideyuki Shimazaki, Sho Ogata, Kuniaki Nakanishi
Primary nonsecretory plasma cell leukemia (PCL) is an extremely rare type of multiple myeloma. Here, we report a case of nonsecretory PCL with no previous history of multiple myeloma. The case exhibited extremely low levels of serum immunoglobulin and light chain, no detectable serum M-protein or free light chain restriction, no urine BJP, and no cytoplasmic light chain expression in flow cytometry. In fluorescence in situ hybridization, tumor cells exhibited fusion genes for IgH/BCL1 and IgH/cMyc, disappearance of the p53 signal, and a split signal for IgK(2p11), but no split signal for IgL (22q11)...
January 1, 2018: Archives of Iranian Medicine
https://www.readbyqxmd.com/read/29575591/improved-clonality-detection-in-hodgkin-lymphoma-using-a-semi-nested-modification-of-the-biomed-2-pcr-assay-for-igh-and-igk-rearrangements-a-paraffin-embedded-tissue-study
#5
Shusen Han, Ayako Masaki, Yuma Sakamoto, Hisashi Takino, Takayuki Murase, Shinsuke Iida, Hiroshi Inagaki
The BIOMED-2 PCR protocols targeting IGH and IGK genes may be useful for detecting clonality in Hodgkin lymphoma (HL). The clonality detection rates, however, have not been very high with these methods using paraffin-embedded tumor sections. We previously described the usefulness of the semi-nested BIOMED-2 IGH assay in B-cell malignancies. In this study, we devised a novel semi-nested BIOMED-2 IGK assay. Employing 58 cases of classical HL, we carried out the standard BIOMED-2, BIOMED-2 followed by BIOMED-2 re-amplification, and BIOMED-2 followed by semi-nested BIOMED-2, all targeting IGH and IGK, using paraffin-embedded tissues...
March 25, 2018: Pathology International
https://www.readbyqxmd.com/read/29534356/-clinicopathologic-characteristics-of-burkitt-like-lymphoma-with-chromosome-11q-aberration
#6
P Wei, Y L Zhang, J L Xie, Y Y Zheng, W Liu, X G Zhou
Objective: To analyze clinical, pathological, molecular and genetic characteristics of Burkitt-like lymphoma with chromosome 11q aberration. Methods: A case of Burkitt-like lymphoma with 11q aberration was presented at Beijing Friendship Hospital in November 2016 with detailed clinicopathological features, immunophenotypes, Epstein-Barr virus(EBV) status and molecular genetic characteristics. Results: The patient was a 38-year-old man presenting with the cervical lymphadenopathy. In morphology, the tumor had the similar characteristics of Burkitt lymphoma, including diffuse infiltration of medium to large lymphoid cells, and presence of"starry sky"phenomenon...
March 8, 2018: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/29301256/network-based-differential-analysis-to-identify-molecular-features-of-tumorigenesis-for-esophageal-squamous-carcinoma
#7
Suxia Jiang, Qi Zhang, Yansen Su, Linqiang Pan
Esophageal cancer has a poor prognosis and high mortality rate across the world. The diagnosis and treatment of esophageal cancer are hindered by the limited knowledge about the pathogenesis mechanisms of esophageal cancer. Esophageal cancer has two major subtypes, squamous and adenocarcinoma. In this work, we proposed a method to select candidate biomarkers of esophageal squamous carcinoma based on the topological differential analysis between the gene-gene interaction networks for esophageal squamous carcinoma and normal cells...
January 1, 2018: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/29296973/high-throughput-sequencing-of-the-b-cell-receptor-in-african-burkitt-lymphoma-reveals-clues-to-pathogenesis
#8
Katharine A Lombardo, David G Coffey, Alicia J Morales, Christopher S Carlson, Andrea M H Towlerton, Sarah E Gerdts, Francis K Nkrumah, Janet Neequaye, Robert J Biggar, Jackson Orem, Corey Casper, Sam M Mbulaiteye, Kishor G Bhatia, Edus H Warren
Burkitt lymphoma (BL), the most common pediatric cancer in sub-Saharan Africa, is a malignancy of antigen-experienced B lymphocytes. High-throughput sequencing (HTS) of the immunoglobulin heavy ( IGH ) and light chain ( IGK / IGL ) loci was performed on genomic DNA from 51 primary BL tumors: 19 from Uganda and 32 from Ghana. Reverse transcription polymerase chain reaction analysis and tumor RNA sequencing (RNAseq) was performed on the Ugandan tumors to confirm and extend the findings from the HTS of tumor DNA...
March 28, 2017: Blood Advances
https://www.readbyqxmd.com/read/29100365/the-value-of-detecting-immunoglobulin-gene-rearrangements-in-the-diagnosis-of-b-cell-lymphoma
#9
Can Lu, QiuYan He, Wei Zhu, ChunYan Fu, JianHua Zhou, YongGuang Tao, Shuang Liu, DeSheng Xiao
Objective: To discuss the clinical value of immunoglobulin gene rearrangements in the diagnosis of B-cell lymphoma. Methods: A total of 209 cases of B-cell lymphomas and 35 cases of reactive lymphoid hyperplasia were selected for DNA extraction and PCR amplification using the BIOMED-2 primer system. Gel electrophoresis of heteroduplexes was used to analyze immunoglobulin gene rearrangements. Results: A total of 209 cases of B-cell lymphoma, including 69 extranodal marginal zone B-cell lymphomas of mucosa-associated lymphoid tissue, 63 diffuse large B-cell lymphomas, 39 follicular lymphomas, 15 small lymphocytic lymphomas, 6 plasmacytomas, 6 mantle cell lymphomas, 7 nodal marginal zone B-cell lymphomas, and 4 lymphoplasmacytoid lymphomas, were examined...
September 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/29084365/views-of-dermatopathologists-about-clonality-assays-in-the-diagnosis-of-cutaneous-t-cell-and-b-cell-lymphoproliferative-disorders
#10
REVIEW
Nneka Comfere, Uma Sundram, Maria Yadira Hurley, Brian Swick
BACKGROUND: Appropriate use criteria have been developed for many tests using expert judgment, evidence-based practice and clinical experience. In this context, we report the opinions of practitioners about clonality assays in various clinical scenarios where cutaneous lymphoma is suspected. METHODS: An Appropriate Use Criteria Task Force sponsored by the American Society of Dermatopathology (ASDP) synthesized clinical scenarios for cutaneous lymphoproliferative disorders (LPDs)...
January 2018: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/28976766/synthesis-and-assessment-of-peptide-gd-dota-conjugates-targeting-extradomain-b-fibronectin-for-magnetic-resonance-molecular-imaging-of-prostate-cancer
#11
Yajuan Li, Zheng Han, Sarah Roelle, Aidan DeSanto, Rob Sabatelle, Rebecca Schur, Zheng-Rong Lu
Contrast enhanced MRI is commonly used in imaging and treatment planning of prostate cancer. However, no tumor targeting contrast agent is commercially available for accurate detection and characterization of prostate cancer with MRI. Extradomain B fibronectin (EDB-FN), an oncoprotein present in aggressive tumors, is a promising molecular target for detection and stratification of high-risk prostate cancer. In this work, we have identified four small peptides (GVK, IGK, SGV, and ZD2) specific to EDB-FN for tumor targeting...
November 6, 2017: Molecular Pharmaceutics
https://www.readbyqxmd.com/read/28924718/comprehensive-annotation-and-evolutionary-insights-into-the-canine-canis-lupus-familiaris-antigen-receptor-loci
#12
Jolyon Martin, Hannes Ponstingl, Marie-Paule Lefranc, Joy Archer, David Sargan, Allan Bradley
Dogs are an excellent model for human disease. For example, the treatment of canine lymphoma has been predictive of the human response to that treatment. However, an incomplete picture of canine (Canis lupus familiaris) immunoglobulin (IG) and T cell receptor (TR)-or antigen receptor (AR)-gene loci has restricted their utility. This work advances the annotation of the canine AR loci and looks into breed-specific features of the loci. Bioinformatic analysis of unbiased RNA sequence data was used to complete the annotation of the canine AR genes...
September 19, 2017: Immunogenetics
https://www.readbyqxmd.com/read/28883003/discovery-of-human-similar-gene-fusions-in-canine-cancers
#13
Ronan Ulvé, Mélanie Rault, Mathieu Bahin, Laetitia Lagoutte, Jérôme Abadie, Clotilde De Brito, Jean-Michel Coindre, Nadine Botherel, Audrey Rousseau, Valentin Wucher, Edouard Cadieu, Catherine Thieblemont, Christophe Hitte, Laurence Cornevin, Florian Cabillic, Laura Bachelot, David Gilot, Benoit Hennuy, Thierry Guillaudeux, Arnaud Le Goff, Thomas Derrien, Benoît Hédan, Catherine André
Canine cancers represent a tremendous natural resource due to their incidence and striking similarities to human cancers, sharing similar clinical and pathologic features as well as oncogenic events, including identical somatic mutations. Considering the importance of gene fusions as driver alterations, we explored their relevance in canine cancers. We focused on three distinct human-comparable canine cancers representing different tissues and embryonic origins. Through RNA-Seq, we discovered similar gene fusions as those found in their human counterparts: IGK - CCND3 in B-cell lymphoma, MPB - BRAF in glioma, and COL3A1 - PDGFB in dermatofibrosarcoma protuberans-like...
November 1, 2017: Cancer Research
https://www.readbyqxmd.com/read/28860343/antigen-receptor-sequencing-of-paired-bone-marrow-samples-shows-homogeneous-distribution-of-acute-lymphoblastic-leukemia-subclones
#14
Prisca M J Theunissen, David van Zessen, Andrew P Stubbs, Malek Faham, Christian M Zwaan, Jacques J M van Dongen, Vincent H J Van Der Velden
In B-cell precursor acute lymphoblastic leukemia, the initial leukemic cells share the same antigen receptor gene rearrangements. However, due to ongoing rearrangement processes, leukemic cells with different gene rearrangement patterns can develop, resulting in subclone formation. We studied leukemic subclones and their distribution in the bone marrow and peripheral blood at diagnosis. Antigen receptor gene rearrangements (IGH, IGK, TRG, TRD, TRB) were analyzed by next-generation sequencing in seven paired bone marrow samples and five paired bone marrow-peripheral blood samples...
November 2017: Haematologica
https://www.readbyqxmd.com/read/28730642/myc-expression-and-translocation-analyses-in-low-grade-and-transformed-follicular-lymphoma
#15
Sietse M Aukema, Roel van Pel, Inga Nagel, Susanne Bens, Reiner Siebert, Stefano Rosati, Eva van den Berg, Anneke G Bosga-Bouwer, Robby E Kibbelaar, Mels Hoogendoorn, Gustaaf W van Imhoff, Hanneke C Kluin-Nelemans, Philip M Kluin, Marcel Nijland
AIMS: Low-grade follicular lymphoma (FL) (grade 1/2, FL1/2) has an annual risk of transformation of ≈3%, which is associated with aberrations in CDKN2A/B, TP53, and MYC. As in diffuse large B-cell lymphoma, high MYC expression in transformed FL (tFL) might predict a MYC breakpoint. METHODS AND RESULTS: We quantified MYC expression by immunohistochemistry and digital analysis in 41 paired biopsies from 20 patients with FL1/2 with subsequent transformation and in four isolated biopsies of tFL...
July 21, 2017: Histopathology
https://www.readbyqxmd.com/read/28693234/relapsed-anaplastic-lymphoma-kinase-positive-large-b-cell-lymphoma-expressed-cluster-of-differentiation-4-and-cytokeratin-an-initially-misdiagnosed-case-corrected-by-immunoglobulin-%C3%AE%C2%BA-locus-gene-rearrangement-detection
#16
Yunfei Shi, Xianghong Li, Yuqin Song, Lixin Zhou, Qin Feng, Ping Wang, Chen Zhang, Weiping Liu, Yanhua Bai, Yumei Lai
Anaplastic lymphoma kinase (ALK)-positive large B-cell lymphoma (LBCL) is a rare lymphoma subtype. The present study investigated a refractory nodal ALK-positive LBCL case in a 28-year-old Chinese male. It was initially misdiagnosed as ALK-positive anaplastic large cell lymphoma; however, the patient's lesions relapsed and spread widely following a short remission for chemotherapy and the patient succumbed to the disease 3 months' post-autologous stem cell transplantation; thus, a revision was performed. Histologically, the tumor cells exhibited a characteristic immunoblastic morphology with marked cellular pleomorphism...
July 2017: Oncology Letters
https://www.readbyqxmd.com/read/28662995/simplifying-the-human-serum-proteome-for-discriminating-patients-with-bipolar-disorder-of-other-psychiatry-conditions
#17
Jemmyson Romário de Jesus, Rodrigo Moretto Galazzi, Tatiani Brenelli de Lima, Cláudio Eduardo Muller Banzato, Luiz Fernando de Almeida Lima E Silva, Clarissa de Rosalmeida Dantas, Fábio Cézar Gozzo, Marco Aurélio Zezzi Arruda
PURPOSE: An exploratory analysis using proteomic strategies in blood serum of patients with bipolar disorder (BD), and with other psychiatric conditions such as Schizophrenia (SCZ), can provide a better understanding of this disorder, as well as their discrimination based on their proteomic profile. METHODS: The proteomic profile of blood serum samples obtained from patients with BD using lithium or other drugs (N=14), healthy controls, including non-family (HCNF; N=3) and family (HCF; N=9), patients with schizophrenia (SCZ; N=23), and patients using lithium for other psychiatric conditions (OD; N=4) were compared...
December 2017: Clinical Biochemistry
https://www.readbyqxmd.com/read/28245386/-diagnostic-significance-of-biomed-2-standardized-gene-rearran-gement-system-in-patients-with-non-hodgkin-s-lymphoma
#18
Yan Zhang, Ning Xu, Bao-Jun Dong, Ge Song, Qing-Hua Li, Gang An, Xiao-Fei Ai
OBJECTIVE: To detect the immunoglobulin(Ig) and T cell receptor(TCR) gene rearrangement in bone marrow of non-Hodgkin's lymphoma(NHL) patients by using BIOMED-2 standardized system, and to explore the potential clinical significance of Ig/TCR gene rearrangement. METHODS: DNA was extracted in bone marrow and Formalin-fixed and Paraffin-embedded(FFPE) samples of NHL patients, the Ig/TCR gene rearrangements were analyzed by using BIOMED-2 multiple primers system and multiplex PCR assay...
February 2017: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/28191367/composite-diffuse-large-b-cell-and-mantle-cell-lymphoma-a-case-report
#19
Farhan Mohammad, Gwenalyn Garcia, Shiksha Kedia, Juan Ding, Matthew Hurford, Alexander Bershadskiy
Composite lymphoma is an extremely rare clinical entity and is characterized by the presence of two different subtypes of lymphoma in the same lymph node. We report a case of composite lymphoma in a 57-year-old male presenting with leg and groin pain. The right inguinal lymph node biopsy showed large and small cells. Immunohistochemistry was consistent with large cells staining for diffuse large B-cell lymphoma (DLBCL) and small cells positive for mantle cell lymphoma (MCL). Polymerase chain reaction (PCR) analysis of immunoglobulin heavy (IGH) chain and immunoglobulin kappa (IGK) light chain gene rearrangements confirmed that the two were clonally unrelated neoplasms...
January 8, 2017: Curēus
https://www.readbyqxmd.com/read/28099581/minimal-residual-disease-detection-in-tunisian-b-acute-lymphoblastic-leukemia-based-on-immunoglobulin-gene-rearrangements
#20
S Besbes, W S Hamadou, M L Boulland, Y B Youssef, B Achour, H Regaieg, A Khelif, T Fest, Z Soua
IGH gene rearrangement and IGK-Kde gene deletion can be used as molecular markers for the assessment of B lineage acute lymphoblastic leukemia (B-ALL). Minimal residual disease detected based on those markers is currently the most reliable prognosis factor in B-ALL. The aim of this study was to use clonal IGH/IGK-Kde gene rearrangements to confirm B-ALL diagnosis and to evaluate the treatment outcome of Tunisian leukemic patients by monitoring the minimal residual disease (MRD) after induction chemotherapy...
January 16, 2017: Brazilian Journal of Medical and Biological Research, Revista Brasileira de Pesquisas Médicas e Biológicas
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