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https://www.readbyqxmd.com/read/29743162/telomere-length-and-lung-cancer-mortality-among-heavy-smokers
#1
Jennifer A Doherty, Laurie Grieshober, John R Houck, Matthew J Barnett, Jean de Dieu Tapsoba, Mark Thornquist, Ching-Yun Wang, Gary E Goodman, Chu Chen
BACKGROUND: Accumulating evidence suggests that short telomere length is associated with increased overall mortality, but the relationship with cancer mortality is less clear. We examined whether telomere length (global, and chromosome arm 5p- and 13q-specific) is associated with lung cancer mortality among cases from the Beta Carotene and Retinol Efficacy Trial of heavy smokers. METHODS: Telomere length was measured on average six years before diagnosis for 788 lung cancer cases...
May 9, 2018: Cancer Epidemiology, Biomarkers & Prevention
https://www.readbyqxmd.com/read/29738359/genomic-profile-and-pathologic-features-of-diffuse-large-b-cell-lymphoma-subtype-of-methotrexate-associated-lymphoproliferative-disorder-in-rheumatoid-arthritis-patients
#2
Joaquim Carreras, Yara Yukie Kikuti, Masashi Miyaoka, Shinichiro Hiraiwa, Sakura Tomita, Haruka Ikoma, Yusuke Kondo, Sawako Shiraiwa, Kiyoshi Ando, Shinji Sato, Yasuo Suzuki, Ikuo Miura, Giovanna Roncador, Naoya Nakamura
Rheumatoid arthritis patients often develop the diffuse large B-cell lymphoma subtype of methotrexate-associated lymphoproliferative disorder (DLBCL). We characterized the genomic profile and pathologic characteristics of 20 biopsies using an integrative approach. DLBCL was associated with extranodal involvement, a high/high-intermediate international prognostic index in 53% of cases, and responded to MTX withdrawal. The phenotype was nongerminal center B-cell in 85% of samples and Epstein-Barr encoding region positive (EBER) in 65%, with a high proliferation index and intermediate MYC expression levels...
May 5, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29736587/a-higher-percentage-of-cells-with-13q-deletion-predicts-worse-outcome-in-chinese-patients-with-chronic-lymphocytic-leukemia-carrying-isolated-13q-deletion
#3
Yuqing Miao, Yi Miao, Ke Shi, Qian Sun, Si-Shu Zhao, Yi Xia, Shu-Chao Qin, Hai-Rong Qiu, Hui Yang, Hao Xu, Hua-Yuan Zhu, Jia-Zhu Wu, Wei Wu, Lei Cao, Li Wang, Lei Fan, Wei Xu, Jian-Yong Li
Previous studies showed that, in chronic lymphocytic leukemia (CLL) patients with isolated 13q deletion (13q-), those carrying higher percentage of leukemic cells with 13q- had more aggressive diseases. However, the prognostic value of the percentage of leukemic cells with 13q- in Chinese CLL patients with isolated 13q- remained to be determined. Using interphase fluorescence in situ hybridization (FISH), we identified 82 patients (25.4%) with isolated 13q deletion from a cohort of 323 untreated CLL patients...
May 7, 2018: Annals of Hematology
https://www.readbyqxmd.com/read/29706638/genome-wide-linkage-analysis-in-spanish-melanoma-prone-families-identifies-a-new-familial-melanoma-susceptibility-locus-at-11q
#4
Miriam Potrony, Joan Anton Puig-Butille, James M Farnham, Pol Giménez-Xavier, Celia Badenas, Gemma Tell-Martí, Paula Aguilera, Cristina Carrera, Josep Malvehy, Craig C Teerlink, Susana Puig
The main genetic factors for familial melanoma remain unknown in >75% of families. CDKN2A is mutated in around 20% of melanoma-prone families. Other high-risk melanoma susceptibility genes explain <3% of families studied to date. We performed the first genome-wide linkage analysis in CDKN2A-negative Spanish melanoma-prone families to identify novel melanoma susceptibility loci. We included 68 individuals from 2, 3, and 6 families with 2, 3, and at least 4 melanoma cases. We detected a locus with significant linkage evidence at 11q14...
April 30, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29695401/cytogenetics-of-spindle-cell-pleomorphic-lipomas-karyotyping-and-fish-analysis-of-31-tumors
#5
Ioannis Panagopoulos, Ludmila Gorunova, Marius Lund-Iversen, Kristin Andersen, Hege Kilen Andersen, Ingvild Lobmaier, Bodil Bjerkehagen, Sverre Heim
BACKGROUND: Spindle cell/pleomorphic lipomas are benign tumors. Here, we present our cytogenetic data on 31 such tumors. MATERIALS AND METHODS: G-banding chromosome analysis and (in selected cases) fluorescence in situ hybridization (FISH) using probes for FOXO1, RB1, and HMGA2 were performed. RESULTS: Rearrangements of chromosome 13 were found in 58% of tumors. Chromosomes 6, 1, 12, and 11 were also involved in 42%, 26%, 26%, and 23% of tumors, respectively...
May 2018: Cancer Genomics & Proteomics
https://www.readbyqxmd.com/read/29684226/iris-hypoplasia-as-the-presenting-sign-of-retinoblastoma-in-a-child-with-a-13q-deletion
#6
Sona Shah, Yaran Koban, Bao Han A Le, Mercy Bechtold, Emily Zolfaghari, Jonathan W Kim, Jesse L Berry
Germline partial chromosomal deletions of the entire RB1 gene (13q deletions), account for 6% of the RB1 mutational spectrum. The authors report the rare case of one patient with suspected bilateral iris heterochromia who actually had iris hypoplasia (often masquerading as heterochromia) and bilateral retinoblastoma, due to 13q deletion syndrome. [J Pediatr Ophthalmol. 2018;55:e10-e13.].
April 23, 2018: Journal of Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/29670295/nested-case-control-study-of-telomere-length-and-lung-cancer-risk-among-heavy-smokers-in-the-%C3%AE-carotene-and-retinol-efficacy-trial
#7
Jennifer Anne Doherty, Laurie Grieshober, John R Houck, Matt J Barnett, Jean De Dieu Tapsoba, Mark D Thornquist, Ching-Yun Wang, Gary E Goodman, Chu Chen
BACKGROUND: Telomeres protect cells from genomic instability. We examined telomere length and lung cancer risk prospectively in heavy smokers. METHODS: In a nested case-control study with 709 cases and 1313 controls, conditional logistic regression was used to evaluate associations between telomere length (global, chromosome 5p, and 13q) and lung cancer risk by histotype, controlling for detailed smoking history. RESULTS: Risks of overall lung cancer and adenocarcinoma were suggestively elevated among individuals with telomere length in the longest tertile...
April 19, 2018: British Journal of Cancer
https://www.readbyqxmd.com/read/29555573/whole-exome-sequencing-identified-mutational-profiles-of-squamous-cell-carcinomas-of-anus
#8
Sun Shin, Hyeon-Chun Park, Min Sung Kim, Mi-Ryung Han, Sung Hak Lee, Seung Hyun Jung, Sug Hyung Lee, Yeun-Jun Chung
Anal squamous cell carcinoma (ASCC), either with human papillomavirus (HPV) (+) or (-), is a neoplastic disease with frequent recurrence and metastasis. To characterize ASCC genomes, we attempted to disclose novel alterations of ASCC genomes as well as other genetic features including mutation signatures. We performed whole-exome sequencing and copy number alteration (CNA) profiling for 8 ASCC samples from 6 patients (2 cases with primary and recurrent/metastatic tumors). We found known ASCC mutations (TP53, CDKN2A and PIK3CA) and CNAs (gains on 3q and 19q and losses on 11q and 13q)...
March 16, 2018: Human Pathology
https://www.readbyqxmd.com/read/29508392/efnb2-haploinsufficiency-causes-a-syndromic-neurodevelopmental-disorder
#9
J Lévy, D Haye, N Marziliano, G Casu, F Guimiot, C Dupont, N Teissier, B Benzacken, P Gressens, E Pipiras, A Verloes, A-C Tabet
Ephrin B2, one of the ligand of the EphB receptors, is involved in a complex signaling pathway regulating the development of the nervous system, neuronal migration, erythropoiesis and vasculogenesis. We report a patient with a de novo variant in EFNB2 and a family in which segregates a 610-kb deletion at chromosome 13q33 encompassing only ARGLU1 and EFNB2 genes. The de novo variant was observed in a patient with anal stenosis, hypoplastic left ventricle and mild developmental delay. The deletion was identified in 2 sibs with congenital heart defect and mild developmental delay...
June 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29472717/revised-cytogenetic-risk-stratification-in-primary-myelofibrosis-analysis-based-on-1002-informative-patients
#10
Ayalew Tefferi, Maura Nicolosi, Mythri Mudireddy, Terra L Lasho, Naseema Gangat, Kebede H Begna, Curtis A Hanson, Rhett P Ketterling, Animesh Pardanani
Current cytogenetic risk stratification in primary myelofibrosis (PMF) is two-tiered: 'favorable' and 'unfavorable'. Recent studies have suggested prognostic heterogeneity within the unfavorable risk category. In 1002 consecutive patients, we performed stepwise analysis of impact on survival from individual and prognostically ordered cytogenetic abnormalities, leading to a revised three-tiered risk model: 'very high risk (VHR)'-single/multiple abnormalities of -7, i(17q), inv(3)/3q21, 12p-/12p11.2, 11q-/11q23, or other autosomal trisomies not including + 8/ + 9 (e...
May 2018: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/29401553/clinical-utility-of-a-diagnostic-approach-to-detect-genetic-abnormalities-in-multiple-myeloma-a-single-institution-experience
#11
Hyun Ae Jung, Mi Ae Jang, Kihyun Kim, Sun Hee Kim
BACKGROUND: The identification of genetic abnormalities in patients with multiple myeloma (MM) has gained emphasis because genetics-based risk stratification significantly affects overall survival (OS). We investigated genetic abnormalities using conventional cytogenetics and FISH and analyzed the prognostic significance of the identified additional abnormalities in MM. METHODS: In total, 267 bone marrow samples were collected from February 2006 to November 2013 from patients who were newly diagnosed as having MM in a tertiary-care hospital in Korea...
May 2018: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/29371889/cytogenetic-mutation-profile-of-chronic-lymphocytic-leukemia-malignant-melanoma-collision-tumors-of-the-skin
#12
Roberta La Starza, Tiziana Pierini, Lorenza Pastorino, Elisa Albi, Caterina Matteucci, Barbara Crescenzi, Paolo Sportoletti, Piero Covarelli, Franca Falzetti, Giovanni Roti, Stefano Ascani, Cristina Mecucci
Background: Collision tumors are rare entities that consist of two histologically distinct tumor types arising in the same anatomic site. An association between chronic lymphocytic leukemia (CLL) and malignant melanoma (MM) has been already described. Up to now, they have been documented only at positive regional lymph nodes while we focused on collision tumor in a skin lesion. Case presentation: We characterized the genomic profile of a skin CLL/MM collision tumor in a patient with a 9-years story of CLL...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29365086/genetic-landscape-of-ultra-stable-chronic-lymphocytic-leukemia-patients
#13
S Raponi, I Del Giudice, M Marinelli, J Wang, L Cafforio, C Ilari, A Piciocchi, M Messina, S Bonina, S Tavolaro, M Bordyuh, P Mariglia, N Peragine, F R Mauro, S Chiaretti, S Molica, M Gentile, A Visentin, L Trentin, G M Rigolin, A Cuneo, F Diop, D Rossi, G Gaidano, A Guarini, R Rabadan, R Foà
Background: Chronic lymphocytic leukemia (CLL) has a heterogeneous clinical course. Beside patients requiring immediate treatment, others show an initial indolent phase followed by progression and others do not progress for decades. The latter two subgroups usually display mutated IGHV genes and a favorable FISH profile. Patients and Methods: Patients with absence of disease progression for over 10 years (11-30) from diagnosis were defined as ultra-stable CLL (US-CLL)...
January 22, 2018: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/29358183/clinical-implications-of-cancer-gene-mutations-in-patients-with-chronic-lymphocytic-leukemia-treated-with-lenalidomide
#14
Koichi Takahashi, Boyu Hu, Feng Wang, Yuanqing Yan, Ekaterina Kim, Candida Vitale, Keyur P Patel, Paolo Strati, Curtis Gumbs, Latasha Little, Samantha Tippen, Xingzhi Song, Jianhua Zhang, Nitin Jain, Philip Thompson, Guillermo Garcia-Manero, Hagop Kantarjian, Zeev Estrov, Kim-Anh Do, Michael Keating, Jan A Burger, William G Wierda, P Andrew Futreal, Alessandra Ferrajoli
Lenalidomide is clinically active in chronic lymphocytic leukemia (CLL), but its effectiveness in the context of the CLL mutational landscape is unknown. We performed targeted capture sequencing of 295 cancer genes in specimens from 102 CLL patients with treatment-naïve disease (TN patients) and 186 CLL patients with relapsed/refractory disease (R/R patients) who received lenalidomide-based therapy at our institution. The most frequently mutated gene was SF3B1 (15%), followed by NOTCH1 (14%) and TP53 (14%), with R/R patients having significantly more TP53 mutations than did TN patients...
April 19, 2018: Blood
https://www.readbyqxmd.com/read/29346066/expression-of-autophagy-related-genes-in-chronic-lymphocytic-leukemia-is-associated-with-disease-course
#15
Yi-Lin Kong, Ying Huang, Jia-Zhu Wu, Xin Cao, Jin-Hua Liang, Yi Xia, Wei Wu, Lei Cao, Hua-Yuan Zhu, Li Wang, Lei Fan, Jian-Yong Li, Wei Xu
Autophagy leads cells to different fates in various cell types and under diverse contexts. Chronic lymphocytic leukemia (CLL), an incurable hematologic neoplasm, has highly variable course and its heterogeneity prompts interest in exploring autophagic trajectories in CLL. We detected the mRNA levels of two autophagy-related genes, BECN1 and ATG5, assessed the association between expression levels and clinical characteristics, and did survival analysis. One hundred and six patients with CLL and fifty healthy controls were enrolled in the present study...
March 2018: Leukemia Research
https://www.readbyqxmd.com/read/29217907/synchronous-breast-cancer-and-gallbladder-diseases-a-chromosomal-analysis-a-pilot-study-at-a-tertiary-care-centre
#16
Devendra Chaudhary, Rahul Ahluwalia, Arvind Rai
Out of a total of 50 study-eligible patients, 15 patients were found to have synchronous breast cancer and gallbladder diseases. Fourteen such patients had breast cancer and cholelithiasis while 1 patient had breast cancer with gallbladder cancer. Amongst these 15 patients, 7 patients tested positive for chromosomal aberrations on karyotyping. Aberrations in these patients were seen on chromosomes 13 and 17 with 2 patients having deletion 13q, 2 having deletion 17q, and 2 having deletions on 17p while one patient had multiple deletions on chromosomes 13q and 17p...
December 2017: Indian Journal of Surgery
https://www.readbyqxmd.com/read/29209431/combining-cytogenetic-and-epigenetic-approaches-in-chronic-lymphocytic-leukemia-improves-prognosis-prediction-for-patients-with-isolated-13q-deletion
#17
Cristina Bagacean, Christelle Le Dantec, Christian Berthou, Adrian Tempescul, Hussam Saad, Anne Bordron, Mihnea Zdrenghea, Victor Cristea, Nathalie Douet-Guilbert, Yves Renaudineau
Background: Both defective DNA methylation and active DNA demethylation processes are emerging as important risk factors in chronic lymphocytic leukemia (CLL). However, associations between 5-cytosine epigenetic markers and the most frequent chromosomal abnormalities detected in CLL remain to be established. Methods: CLL patients were retrospectively classified into a cytogenetic low-risk group (isolated 13q deletion), an intermediate-risk group (normal karyotype or trisomy 12), and a high-risk group (11q deletion, 17p deletion, or complex karyotype [≥ 3 breakpoints])...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/29172291/the-utilization-of-karyotyping-ifish-and-mlpa-for-the-detection-of-recurrence-genetic-aberrations-in-multiple-myeloma
#18
Suchada Sommaluan, Budsaba Rerkamnuaychoke, Teeraya Pauwilai, Suporn Chancharunee, Preeyaporn Onsod, Pitichai Pornsarayuth, Takol Chareonsirisuthigul, Rachaneekorn Tammachote, Teerapong Siriboonpiputtana
Multiple myeloma (MM) is a hematological malignancy characterized by abnormal accumulation of clonal plasma cells in the bone marrow. Recently, multiplex ligation-dependent probe amplification (MLPA) has emerged as an effective and robust method for detection of common genetic alterations in MM patients. Here, we aimed to confirm MLPA utility for this purpose and furthermore to test the feasibility of a combination of karyotyping, interphase fluorescence in situ hybridization (iFISH) and MLPA methods for diagnosis, prognostic assessment and risk stratification of MM...
November 26, 2017: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/29168298/biallelic-mutations-in-nalcn-expanding-the-genotypic-and-phenotypic-spectra-of-ihprf1
#19
Toshiki Takenouchi, Mie Inaba, Tomoko Uehara, Takao Takahashi, Kenjiro Kosaki, Seiji Mizuno
Loss-of function mutations in NALCN on chromosome 13q, a sodium leak channel that maintains baseline neuronal excitability, cause infantile hypotonia with psychomotor retardation and characteristic faces 1 (IHPRF1, OMIM #615419). Here, we document two individuals with early onset hypotonia with poor feeding and intellectual disability who were compatible with a diagnosis of IHPRF1. The two patients had bi-allelic mutations in NALCN through two different genetic mechanisms: Patient 1 had bi-allelic splice site mutations, that is c...
February 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29166734/-a-retrospective-study-of-the-bird-regimen-in-the-treatment-of-relapsed-refractory-multiple-myeloma
#20
X L Liu, L Li, Q L Shi, L J Chen, X X Cao, J Li, A J Liao, D H Zou, J N Sun, S J Gao, W Li, J Hou, F Y Jin
Objective: To evaluate efficacy of the BiRd regimen, a combination of clarithromycin, lenalidomide, and dexamethasone, in the treatment of patients with relapsed/refractory multiple myeloma (RRMM) . Methods: Patients with RRMM treated with BiRd between September 11, 2013 and August 1, 2016 at six centers were included to evaluate overall survival rate (ORR) , clinical benefit rate (CBR) , progression-free survival (PFS) , overall survival (OS) , as well as adverse events. Results: Of 30 patients with RRMM, 27 patients were evaluable, and ORR and CBR were 51...
October 14, 2017: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
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