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https://www.readbyqxmd.com/read/27913473/first-line-therapy-for-young-patients-with-cll
#1
Nitin Jain, Susan O'Brien
A 61-year-old man with a history of chronic lymphocytic leukemia (CLL) presents with complaints of worsening fatigue and night sweats. He was diagnosed with CLL 3 years ago on routine blood count testing. He has no major medical comorbidities. On examination, he has several 2- to 3-cm lymph nodes in the cervical and axillary area. Spleen is palpable 5 cm below the costal margin. Blood counts show lymphocytosis with thrombocytopenia and anemia. Prognostic markers include deletion 13q by fluorescence in situ hybridization analysis and mutated IGHV You are asked by the hematology fellow you are supervising about the best treatment of this patient...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27904139/interphase-fluorescence-in-situ-hybridization-ifish-in-untreated-al-amyloidosis-has-an-independent-prognostic-impact-by-abnormality-type-and-treatment-category
#2
E Muchtar, A Dispenzieri, S K Kumar, R P Ketterling, D Dingli, M Q Lacy, F K Buadi, S R Hayman, P Kapoor, N Leung, R Chakraborty, W Gonsalves, R Warsame, T V Kourelis, S Russell, J A Lust, Y Lin, R S Go, S Zeldenrust, R A Kyle, S V Rajkumar, M A Gertz
The significance of interphase fluorescence in-situ hybridization (iFISH) by regimen type was assessed in 692 AL amyloidosis patients with iFISH at diagnosis. First line treatment was categorized as stem cell transplant and three non-transplant regimens. The most common abnormality was t(11;14) (49% of patients) followed by monosomy 13/del(13q) (36%) and trisomies (26%). A lower rate of very good partial response (VGPR) or better was observed in patients with t(11;14) treated with bortezomib-based (52 vs 77%; P=0...
December 1, 2016: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/27893178/comprehensive-genetic-characterization-of-rosette-forming-glioneuronal-tumors-independent-component-analysis-by-tissue-microdissection
#3
Yohei Kitamura, Takashi Komori, Makoto Shibuya, Kentaro Ohara, Yuko Saito, Saeko Hayashi, Aya Sasaki, Eiji Nakagawa, Ryosuke Tomio, Akiyoshi Kakita, Masashi Nakatsukasa, Kazunari Yoshida, Hikaru Sasaki
A rosette-forming glioneuronal tumor (RGNT) is a rare, mixed neuronal-glial tumor characterized by biphasic architecture of glial and neurocytic components. The number of reports of genetic analyses of RGNTs is few. Additionally, the genetic background of the unique biphasic pathological characteristics of such mixed neuronal-glial tumors remains unclear. To clarify the genetic background of RGNTs, we performed separate comprehensive genetic analyses of glial and neurocytic components of five RGNTs, by tissue microdissection...
November 28, 2016: Brain Pathology
https://www.readbyqxmd.com/read/27863505/a-genomic-case-study-of-desmoplastic-small-round-cell-tumor-comprehensive-analysis-reveals-insights-into-potential-therapeutic-targets-and-development-of-a-monitoring-tool-for-a-rare-and-aggressive-disease
#4
Elisa Napolitano Ferreira, Bruna Durães Figueiredo Barros, Jorge Estefano de Souza, Renan Valieris Almeida, Giovana Tardin Torrezan, Sheila Garcia, Ana Cristina Victorino Krepischi, Celso Abdon Lopes de Mello, Isabela Werneck da Cunha, Clóvis Antonio Lopes Pinto, Fernando Augusto Soares, Emmanuel Dias-Neto, Ademar Lopes, Sandro José de Souza, Dirce Maria Carraro
BACKGROUND: Genome-wide profiling of rare tumors is crucial for improvement of diagnosis, treatment, and, consequently, achieving better outcomes. Desmoplastic small round cell tumor (DSRCT) is a rare type of sarcoma arising from mesenchymal cells of abdominal peritoneum that usually develops in male adolescents and young adults. A specific translocation, t(11;22)(p13;q12), resulting in EWS and WT1 gene fusion is the only recurrent molecular hallmark and no other genetic factor has been associated to this aggressive tumor...
November 18, 2016: Human Genomics
https://www.readbyqxmd.com/read/27861736/real-world-clinical-experience-in-the-connect-%C3%A2-chronic-lymphocytic-leukaemia-registry-a-prospective-cohort-study-of-1494-patients-across-199-us-centres
#5
Anthony Mato, Chadi Nabhan, Neil E Kay, Mark A Weiss, Nicole Lamanna, Thomas J Kipps, David L Grinblatt, Ian W Flinn, Mark F Kozloff, Christopher R Flowers, Charles M Farber, Pavel Kiselev, Arlene S Swern, Kristen Sullivan, E Dawn Flick, Jeff P Sharman
The clinical course of chronic lymphocytic leukaemia (CLL) is heterogeneous, and treatment options vary considerably. The Connect(®) CLL registry is a multicentre, prospective observational cohort study that provides a real-world perspective on the management of, and outcomes for, patients with CLL. Between 2010 and 2014, 1494 patients with CLL and that initiated therapy, were enrolled from 199 centres throughout the USA (179 community-, 17 academic-, and 3 government-based centres). Patients were grouped by line of therapy at enrolment (LOT)...
December 2016: British Journal of Haematology
https://www.readbyqxmd.com/read/27843232/minimal-exposure-intra-arterial-chemotherapy-for-children-with-retinoblastoma-and-13q-syndrome
#6
Alexander B Dillon, Alexzandra Douglass, Pascal Jabbour, Carol L Shields
Two infants with retinoblastoma and 13q syndrome with multiorgan system anomalies were treated with targeted intra-arterial chemotherapy (IAC) using one-to-three cycles of melphalan 5 mg to avoid systemic chemotherapeutic side effects. Both patients showed good response, with tumor control and no systemic chemotherapy side effects. Of the treatment modalities currently available, IAC may represent an optimal balance between tumor extermination and adverse drug reactions in this patient population with classically reduced multiorgan reserve...
September 2016: Oman Journal of Ophthalmology
https://www.readbyqxmd.com/read/27825811/superficial-acral-fibromyxoma-clinicopathologic-immunohistochemical-and-molecular-study-of-11-cases-highlighting-frequent-rb1-loss-deletions
#7
Abbas Agaimy, Michael Michal, Johannes Giedl, Ladislav Hadravsky, Michal Michal
Superficial acral fibromyxoma (SAF) is an uncommon benign dermal mesenchymal lesion of adults with predilection for acral sites, in particular the nail region. To date, <300 cases have been reported. SAFs consistently express CD34 but other diagnostic markers or specific genetic alterations have not been established yet. We describe 11 SAFs occurring in 7 males and 4 females aged 37 to 86years (median, 48). Mean size was 6mm (range, 4-20mm). Affected sites were fingers (n=5), toes (n=3), heel (n=1), calf (n=1) and unspecified digit (n=1)...
November 4, 2016: Human Pathology
https://www.readbyqxmd.com/read/27825145/constitutional-chromoanagenesis-of-distal-13q-in-a-young-adult-with-recurrent-strokes
#8
Rachel D Burnside, April Harris, Darrow Speyer, W Scott Burgin, David Z Rose, Amarilis Sanchez-Valle
Constitutional chromoanagenesis events, which include chromoanasynthesis and chromothripsis and result in highly complex rearrangements, have been reported for only a few individuals. While rare, these phenomena have likely been underestimated in a constitutional setting as technologies that can accurately detect such complexity are relatively new to the mature field of clinical cytogenetics. G-banding is not likely to accurately identify chromoanasynthesis or chromothripsis, since the banding patterns of chromosomes are likely to be misidentified or oversimplified due to a much lower resolution...
November 9, 2016: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/27779547/molecular-analysis-of-single-tumor-glands-using-the-crypt-isolation-method-in-endometrial-carcinomas
#9
Takayuki Nagasawa, Tamotsu Sugai, Tadahiro Shoji, Wataru Habano, Toru Sugiyama
OBJECTIVE: Endometrial adenocarcinomas are characterized by the presence of many single tumor glands in which multiple genetic changes have accumulated. To elucidate the differences in molecular abnormalities among single tumor glands, individual tumor glands were analyzed and microsatellite alterations (loss of heterozygosity (LOH) and microsatellite instability [MSI]) were examined using the crypt isolation method in glands from each tumor from patients with endometrial carcinoma. METHODS: Twenty-five patients with endometrial adenocarcinoma who underwent surgery were included in this study...
November 2016: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/27757836/lipoprotein-lipase-as-a-prognostic-marker-in-chronic-lymphocytic-leukemia
#10
Zoltán Mátrai, Hajnalka Andrikovics, Anikó Szilvási, András Bors, András Kozma, Emma Ádám, Gabriella Halm, Éva Karászi, Attila Tordai, Tamás Masszi
The marked clinical heterogeneity of CLL makes early prognosis assessment important. Lipoprotein lipase (LPL) has been shown to confer adverse prognosis in CLL, recent data indicating it might also contribute to CLL cell survival and metabolism. We determined LPL mRNA expression in unselected peripheral blood of 84 CLL patients by RT PCR. Results were correlated with other prognostic markers and outcome. 30/84 (40 %) of cases were LPL positive based on the cutoff established by ROC analysis. In LPL positive patients significantly shorter median survival (136 vs 258 months, p < 0...
October 18, 2016: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/27750267/a-del-13-q21-32q31-2-dn-refined-to-21-9%C3%A2-mb-in-a-female-toddler-with-irides-heterochromia-and-hypopigmentation-appraisal-of-interstitial-mid-13q-deletions
#11
Carlos Córdova-Fletes, Horacio Rivera, Eduardo A Garza-Villarreal, Norma A Vázquéz-Cárdenas, Lizeth A Martínez-Jacobo, Talia Moreno-Andrade
No abstract text is available yet for this article.
October 12, 2016: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27698805/genetic-landscape-of-a-case-of-extraovarian-peritoneal-serous-papillary-carcinoma
#12
Zhongping Cheng, Weihong Yang, Jing Guo, Ning Luo, Li Chen, Yan Xie, Xiaoyan Qu, Liping Hu, Hong Dai, Xiaoming Zuo
The present report aimed to study genetic alterations underlying extraovarian peritoneal serous papillary carcinoma (EPSPC), which have not previously been systematically investigated. A case of EPSPC was identified, and its genetic alterations were assessed by combining comparative genomic hybridization and whole-exome sequencing technologies to investigate the genomic landscape, including copy number variations and mutations in EPSPC. It was found that a large number of germline mutations were present, which may have predisposed the patient to the occurrence of this disease...
October 2016: Oncology Letters
https://www.readbyqxmd.com/read/27694925/hyperhaploidy-is-a-novel-high-risk-cytogenetic-subgroup-in-multiple-myeloma
#13
J R Sawyer, E Tian, J D Shaughnessy, J Epstein, C M Swanson, C Stangeby, C L Hale, L Parr, M Lynn, G Sammartino, J L Lukacs, C Stein, C Bailey, M Zangari, F E Davies, F Van Rhee, B Barlogie, G J Morgan
Hyperhaploid clones (24-34 chromosomes) were identified in 33 patients with multiple myeloma (MM), identifying a novel numerical cytogenetic subgroup. Strikingly, all hyperhaploid karyotypes were found to harbor monosomy 17p, the single most important risk stratification lesion in MM. A catastrophic loss of nearly a haploid set of chromosomes results in disomies of chromosomes 3,5,7,9,11,15,18,19, and 21, the same basic set of odd-numbered chromosomes found in trisomy in hyperdiploid myeloma. All other autosomes are found in monosomy, resulting in additional clinically relevant monosomies of 1p, 6q, 13q, and 16q...
October 3, 2016: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/27638366/outcome-of-patients-with-multiple-myeloma-and-cks1b-gene-amplification-after-autologous-hematopoietic-stem-cell-transplantation
#14
Fabian Bock, Gary Lu, Samer A Srour, Sameh Gaballa, Heather Y Lin, Veerabhadran Baladandayuthapani, Medhavi Honhar, Maximilian Stich, Nina Das Shah, Qaiser Bashir, Krina Patel, Uday Popat, Chitra Hosing, Martin Korbling, Ruby Delgado, Gabriela Rondon, Jatin J Shah, Sheeba K Thomas, Elisabet E Manasanch, Berend Isermann, Robert Z Orlowski, Richard E Champlin, Muzaffar H Qazilbash
The gain/amplification of the CKS1B gene on chromosome 1q21 region is associated with a poor outcome in patients with multiple myeloma (MM). However, there are limited data on the outcome of patients with CKS1B amplification after a single high-dose chemotherapy and autologous hematopoietic stem cell transplantation (auto-HCT). We retrospectively evaluated the outcome of patients with CKS1B amplification who received an auto-HCT between June 2012 and July 2014 at our institution. We identified 58 patients with MM and CKS1B gene amplification detected by fluorescent in situ hybridization (FISH)...
September 13, 2016: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/27535846/multipoint-genome-wide-linkage-scan-for-nonword-repetition-in-a-multigenerational-family-further-supports-chromosome-13q-as-a-locus-for-verbal-trait-disorders
#15
D T Truong, L D Shriberg, S D Smith, K L Chapman, A R Scheer-Cohen, M M C DeMille, A K Adams, A Q Nato, E M Wijsman, J D Eicher, J R Gruen
Verbal trait disorders encompass a wide range of conditions and are marked by deficits in five domains that impair a person's ability to communicate: speech, language, reading, spelling, and writing. Nonword repetition is a robust endophenotype for verbal trait disorders that is sensitive to cognitive processes critical to verbal development, including auditory processing, phonological working memory, and motor planning and programming. In the present study, we present a six-generation extended pedigree with a history of verbal trait disorders...
December 2016: Human Genetics
https://www.readbyqxmd.com/read/27511114/tert-promoter-mutations-and-chromosome-8p-loss-are-characteristic-of-nonalcoholic-fatty-liver-disease-related-hepatocellular-carcinoma
#16
Soo Ki Kim, Yoshihide Ueda, Etsuro Hatano, Nobuyuki Kakiuchi, Haruhiko Takeda, Tomoyuki Goto, Takahiro Shimizu, Kenichi Yoshida, Yoshihiro Ikura, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Shinji Uemoto, Tsutomu Chiba, Seishi Ogawa, Hiroyuki Marusawa
The number of patients with nonalcoholic fatty liver disease (NAFLD)-related hepatocellular carcinoma (HCC) is increasing. To understand the molecular features of the tumor phenotype, we aimed to clarify the overall landscape of genetic aberrations accumulated in NAFLD-related HCC. Of 247 HCC patients who underwent hepatectomy during 2010 to 2014 at a single center in Japan, 10 were diagnosed with NAFLD-HCC based on strict clinical and pathologic criteria. We analyzed the genetic aberrations of 11 NAFLD-HCC tumor samples from these 10 patients by whole-exome sequencing, targeted sequencing of the selected genes, and copy number variation studies...
December 1, 2016: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/27499650/a-newborn-with-very-rare-von-voss-cherstvoy-syndrome-a-case-report
#17
Deepak Sharma, Basudev Gupta, Sweta Shastri, Pradeep Sharma
INTRODUCTION: von Voss-Cherstvoy syndrome is a part of a group of syndromes with radial and hematologic abnormalities, and until now approximately ten cases have been reported in the literature. This syndrome is characterized by a triad of radial ray defects, occipital encephalocele, and urogenital abnormalities. CASE PRESENTATION: We report a neonate from Indian ethnicity who was diagnosed with von Voss-Cherstvoy syndrome. The neonate had radial ray defect, occipital encephalocele, tetralogy of Fallot, and bilateral agenesis of kidney, ureter, and bladder...
2016: International Medical Case Reports Journal
https://www.readbyqxmd.com/read/27488532/the-genomic-landscape-of-pancreatic-and-periampullary-adenocarcinoma
#18
Vandana Sandhu, David C Wedge, Inger Marie Bowitz Lothe, Knut Jørgen Labori, Stefan C Dentro, Trond Buanes, Martina L Skrede, Astrid M Dalsgaard, Else Munthe, Ola Myklebost, Ole Christian Lingjærde, Anne-Lise Børresen-Dale, Tone Ikdahl, Peter Van Loo, Silje Nord, Elin H Kure
Despite advances in diagnostics, less than 5% of patients with periampullary tumors experience an overall survival of five years or more. Periampullary tumors are neoplasms that arise in the vicinity of the ampulla of Vater, an enlargement of liver and pancreas ducts where they join and enter the small intestine. In this study, we analyzed copy number aberrations using Affymetrix SNP 6.0 arrays in 60 periampullary adenocarcinomas from Oslo University Hospital to identify genome-wide copy number aberrations, putative driver genes, deregulated pathways, and potential prognostic markers...
September 1, 2016: Cancer Research
https://www.readbyqxmd.com/read/27478773/homozygosity-for-a-robertsonian-translocation-13q-14q-in-a-phenotypically-normal-44-xx-female-with-a-history-of-recurrent-abortion-and-a-normal-pregnancy-outcome
#19
Mohammad Miryounesi, Mehdi Diantpour, Elahe Motevaseli, Soudeh Ghafouri-Fard
BACKGROUND: Robertsonian translocations are structural chromosomal abnormalities caused by fusion of two acrocentric chromosomes. In carriers of such translocations, different modes of segregations would result in the formation of either balanced (alternate segregation mode) or unbalanced (adjacent 1, adjacent 2, and 3:1 segregation modes) gametes. In addition, there is an increased risk for imprinting disorders in their offspring. Although it has been estimated that 1/1000 healthy persons carry a Robertsonian translocation, homozygosity for this type of structural chromosomal abnormality has been reported rarely...
July 2016: Journal of Reproduction & Infertility
https://www.readbyqxmd.com/read/27467457/intratumoral-genetic-heterogeneity-and-number-of-cytogenetic-aberrations-provide-additional-prognostic-significance-in-chronic-lymphocytic-leukemia
#20
Shuhua Yi, Zengjun Li, Dehui Zou, Gang An, Rui Cui, Shizhen Zhong, Heng Li, Wenjie Xiong, Chenwen Li, Weiwei Chen, Wei Liu, Rui Lv, Zhen Yu, Huijun Wang, Yan Xu, Keshu Zhou, Kun Ru, Jianxiang Wang, Tao Cheng, Lugui Qiu
PURPOSE: Chronic lymphocytic leukemia (CLL) is a heterogeneous disease with cytogenetic aberrations that are still considered the gold standard of prognostic factors. However, heterogeneity remains within each cytogenetic group, especially in patients with concomitant cytogenetic aberrations. METHODS: A panel of DNA probes was used to detect cytogenetic aberrations, including RB1/D13S25 at 13q14, ATM at 11q22, TP53 at 17p13, CEP12 and IGH translocation at 14q32, by fluorescence in situ hybridization...
July 28, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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