Paulina Stefaniuk, Julia Onyszczuk, Agnieszka Szymczyk, Monika Podhorecka
Chronic lymphocytic leukemia (CLL), which is the most common type of leukemia in western countries in adults, is characterized by heterogeneity in clinical course, prognosis and response to the treatment. Although, in recent years a number of factors with probable prognostic value in CLL have been identified (eg NOTCH1, SF3B1 and BIRC-3 mutations, or evaluation of microRNA expression), TP53 aberrations are still the most important single factors of poor prognosis. It was found that approximately 30% of all TP53 defects are mutations lacking 17p13 deletion, whereas sole 17p13 deletion with the absence of TP53 mutation consists of 10% of all TP53 defects...
2021: Cancer Management and Research
Sintia Kolbjer, Daniel A Martin, Maria Pettersson, Maria Dahlin, Britt-Marie Anderlid
INTRODUCTION: Lissencephaly is a rare malformation of cortical development due to abnormal transmantle migration resulting in absent or reduced gyration. The lissencephaly spectrum consists of agyria, pachygyria and subcortical band heterotopia. In this study we compared genetic aetiology, neuroradiology, clinical phenotype and response to antiepileptic drugs in patients with epilepsy and lissencephaly spectrum malformations. METHODS: The study group consisted of 20 patients - 13 males and 7 females, aged 18 months to 21 years at the time of data collection...
January 8, 2021: European Journal of Paediatric Neurology: EJPN
David Shabsovich, John Reinartz, Jackeline Ham, Laura Pearson, Karen Cunnien, Carlos A Tirado
Chronic lymphocytic leukemia (CLL) is among the most common forms of leukemia diagnosed in the United States. It is associated with a variety of clinically significant genetic abnormalities, including cytogenetic abnormalities that are assessed routinely. Herein, we present a case of CLL for which molecular cytogenetic analysis revealed concomitant deletion of TP53 (17p13.1) in 87% of cells analyzed and amplification (3-20 signals) of C-MYC (8q24.1) in 47% of cells analyzed. Although rearrangements involving C-MYC are common in CLL, amplification is a rarer phenomenon that has not been investigated as thoroughly and may be overlooked during routine analysis...
2020: Journal of the Association of Genetic Technologists
Michelle S Yau, Allison L Kuipers, Ryan Price, Aude Nicolas, Salman M Tajuddin, Samuel K Handelman, Liubov Arbeeva, Alessandra Chesi, Yi-Hsiang Hsu, Ching-Ti Liu, David Karasik, Babette S Zemel, Struan F A Grant, Joanne M Jordan, Rebecca D Jackson, Michele K Evans, Tamara B Harris, Joseph M Zmuda, Douglas P Kiel
Genetic studies of bone mineral density (BMD) largely have been conducted in European populations. We therefore conducted a meta-analysis of six independent African ancestry cohorts to determine whether previously reported BMD loci identified in European populations were transferable to African ancestry populations. We included nearly 5,000 individuals with both genetic data and assessments of BMD. Genotype imputation was conducted using the 1000G reference panel. We assessed SNP associations with femoral neck and lumbar spine BMD in each cohort separately, then combined results in fixed effects (or random effects if study heterogeneity was high, I2 index > 60) inverse variance weighted meta-analyses...
November 29, 2020: Journal of Bone and Mineral Research
Marion Dubuissez, Sonia Paget, Souhila Abdelfettah, Nathalie Spruyt, Vanessa Dehennaut, Gaylor Boulay, Ingrid Loison, Clementine de Schutter, Brian R Rood, Martine Duterque-Coquillaud, Xavier Leroy, Dominique Leprince
HIC1 ( Hypermethylated In Cancer 1 ) a tumor suppressor gene located at 17p13.3, is frequently deleted or epigenetically silenced in many human tumors. HIC1 encodes a transcriptional repressor involved in various aspects of the DNA damage response and in complex regulatory loops with P53 and SIRT1. HIC1 expression in normal prostate tissues has not yet been investigated in detail. Here, we demonstrated by immunohistochemistry that detectable HIC1 expression is restricted to the stroma of both normal and tumor prostate tissues...
November 10, 2020: Oncotarget
Hao Su, Chen Chang, Jiajie Hao, Xin Xu, Mandula Bao, Shou Luo, Chuanduo Zhao, Qian Liu, Xishan Wang, Zhixiang Zhou, Haitao Zhou
Purpose: The molecular mechanism of perineural invasion (PNI) in stage II colorectal cancer (CRC) remains not to be defined clearly. This study aims to identify the genomic aberrations related to PNI in stage II CRC. Patients and Methods: Using array-based comparative genomic hybridization (array-CGH), primary tumor tissues and paracancerous normal tissues of stage II CRC with PNI and without PNI were analyzed. We identified genomic aberrations by using Genomic Workbench and MD-SeeGH and validated the aberrations of selected genes by real-time polymerase chain reaction (PCR)...
2020: OncoTargets and Therapy
Hexuan Zhang, Xue Yang, Xianying Tang, Guangping Li, Daili Tang, Zhi Huang
OBJECTIVE: To carry out genetic diagnosis for a fetus. METHODS: Chromosome G-banding and chromosomal microarray analysis (CMA) were carried out for a fetus with abnormal morphology of lateral cerebral fissure. RESULTS: The karyotype of the fetus was normal, but CMA showed that it has carried a 1.4 Mb deletion at 17p13.3 region, which suggested a diagnosis of Miller-Dieker syndrome (MDS). CONCLUSION: Familiarity with clinical features and proper selection of genetic testing method are crucial for the diagnosis of MDS...
November 10, 2020: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Yunju Yang, Akiko Suzuki, Junichi Iwata, Goo Jun
Orofacial cleft (OFC) is one of the most prevalent birth defects, leading to substantial and long-term burdens in a newborn's quality of life. Although studies revealed several genetic variants associated with the birth defect, novel approaches may provide additional clues about its etiology. Using the Center for Craniofacial and Dental Genetics project data ( n = 10,542), we performed linear mixed-model analyses to study the genetic compositions of OFC and investigated the dependence among identified loci using conditional analyses...
October 29, 2020: Genes
Hai-Ying Zhang, Yan-Li Yang, Qiang Zhao, Jing Zhang, Hai Bai
OBJECTIVE: To investigate the value of fluorescence in situ hybridization (FISH) in the diagnosis and prognosis evaluation of patients with chronic lymphocytic leukemia (CLL). METHODS: Ninty-three patients with newly diagnosed CLL were tested by five probes including RB1 (13q14.1), D13S25 (13q14.3), p53(17p13.1), ATM( 11q22.3) and CSP12, while conventional cytogenetics (CC) was used for karyotype analysis. Then the correlation of the molecular cytogenetic abnormalities with the clinical Binet stages, Rai stages and the other related laboratory examinations was analyzed...
October 2020: Zhongguo Shi Yan Xue Ye Xue za Zhi
Constantine S Tam, Tadeusz Robak, Paolo Ghia, Brad S Kahl, Patricia Walker, Wojciech Janowski, David Simpson, Mazyar Shadman, Peter S Ganly, Luca Laurenti, Stephen Opat, Monica Tani, Hanna Ciepluch, Emma Verner, Martin Šimkovič, Anders Österborg, Marek Trněný, Alessandra Tedeschi, Jason C Paik, Sowmya B Kuwahara, Shibao Feng, Vanitha Ramakrishnan, Aileen Cohen, Jane Huang, Peter Hillmen, Jennifer R Brown
Patients with chronic lymphocytic leukemia or small lymphocytic lymphoma whose tumors carry deletion of chromosome 17p13.1 [del(17p)] have an unfavorable prognosis and respond poorly to standard chemoimmunotherapy. Zanubrutinib is a selective next-generation Bruton tyrosine kinase inhibitor. We evaluated the safety and efficacy of zanubrutinib 160 mg twice daily in treatment-naïve patients with del(17p) disease enrolled in a dedicated, nonrandomized cohort (Arm C) of the phase 3 SEQUOIA trial. A total of 109 patients (median age, 70 years; range, 42 - 86) with centrally confirmed del(17p) were enrolled and treated...
October 13, 2020: Haematologica
Linlin Li, Xinyue Zhang, Qingyang Shi, Leilei Li, Yuting Jiang, Ruizhi Liu, Hongguo Zhang
BACKGROUND: Trisomy of the short arm of chromosome 17 is a rare genomic disorder. The clinical features of complete trisomy 17p syndrome have been described. Most cases of this syndrome have been found in infants and children, but only a few cases were found by ultrasound in the prenatal period. METHODS: We report a case of complete trisomy 17p syndrome, which was inherited from paternal balanced translocation t(15;17)(q11.2;q11.2). A pregnant woman underwent an ultrasound examination at 24 weeks of gestation...
September 20, 2020: Journal of Clinical Laboratory Analysis
Costin Leu, Jocelyn F Bautista, Monica Sudarsanam, Lisa-Marie Niestroj, Arthur Stefanski, Lisa Ferguson, Mark J Daly, Lara Jehi, Imad M Najm, Robyn M Busch, Dennis Lal
Psychogenic nonepileptic seizures (PNES) are diagnosed in approximately 30% of patients referred to tertiary care epilepsy centers. Little is known about the molecular pathology of PNES, much less about possible underlying genetic factors. We generated whole-exome sequencing and whole-genome genotyping data to identify rare, pathogenic (P) or likely pathogenic (LP) variants in 102 individuals with PNES and 448 individuals with focal (FE) or generalized (GE) epilepsy. Variants were classified for all individuals based on the ACMG-AMP 2015 guidelines...
September 16, 2020: Scientific Reports
Tatiana Zhevak, Tatiana Shelekhova, Nina Chesnokova, Olga Tsareva, Anna Chanturidze, Petr Litvitsky, Natalia Andriutsa, Natalia Samburova, Ivan Budnik
BACKGROUND: Prospective data on the value of oxidative stress in the pathogenesis of B-CLL are limited, and data on the relationship between oxidative stress and the presence of cytogenetic abnormalities (CA) in this pathology are almost absent. In the present study, we evaluated the serum levels of oxidative stress biomarkers [conjugated dienes (CD), malondialdehyde (MDA), and nitrite levels] and antioxidant biomarkers [ceruloplasmin (CP) level and glutathione peroxidase (GPx) activity] in B-CLL and investigated the relationship between these biomarkers and the presence of CA...
August 31, 2020: Experimental and Molecular Pathology
Walead Ebrahimizadeh, Karl-Philippe Guérard, Shaghayegh Rouzbeh, Yogesh M Bramhecha, Eleonora Scarlata, Fadi Brimo, Palak G Patel, Tamara Jamaspishvili, Armen G Aprikian, David Berman, John Bartlett, Simone Chevalier, Jacques Lapointe
DNA copy number alterations (CNAs) are promising biomarkers to predict prostate cancer (PCa) outcome. However, fluorescence in situ hybridization (FISH) cannot assess complex CNA signatures due to low multiplexing capabilities. Multiplex ligation-dependent probe amplification (MLPA) can detect multiple CNAs in a single PCR assay, but PCa-specific probe mixes available commercially are lacking. Synthetic MLPA probes were designed to target 10 CNAs relevant to PCa: 5q15-21.1 (CHD1), 6q15 (MAP3K7), 8p21.2 (NKX3-1), 8q24...
August 4, 2020: Journal of Molecular Diagnostics: JMD
Chethana Babu K Udupa, Karthik Subramanaya Udupa, Ananth Pai, Prathika Sherigar
Background & Objective: Cytogenetic abnormalities in Multiple myeloma (MM) has emerged as the most important factor that determine the prognosis and survival. Fluorescence in situ hybridization (FISH) can detect a greater number of cytogenetic abnormalities as compared to conventional karyotyping and hence has become the standard test in determining genetic abnormalities in MM. The present study was planned as there is an unmet need to find out various cytogenetic abnormalities and to implement them in prognostic stratification by Revised International Staging System (R-ISS) among Indian population...
2020: Iranian Journal of Pathology
David F Grabski, Aakrosh Ratan, Laurie R Gray, Stefan Bekiranov, David Rekosh, Marie-Louise Hammarskjold, Sara K Rasmussen
PURPOSE: Hepatoblastoma is the most common liver malignancy in children. In order to advance therapy against hepatoblastoma, novel immunologic targets and biomarkers are needed. Our purpose in this investigation is to examine hepatoblastoma transcriptomes for the expression of a class of genomic elements known as Human Endogenous Retrovirus (HERVs). HERVs are abundant in the human genome and are biologically active elements that have been associated with multiple malignancies and proposed as immunologic targets in a subset of tumors...
May 27, 2020: Journal of Pediatric Surgery
Till Eichenauer, Navid Shadanpour, Martina Kluth, Cosima Göbel, Sören Weidemann, Christoph Fraune, Franziska Büscheck, Claudia Hube-Magg, Christina Möller-Koop, Roland Dahlem, Margit Fisch, Michael Rink, Silke Riechardt, Eike Burandt, Christian Bernreuther, Sarah Minner, Ronald Simon, Guido Sauter, Waldemar Wilczak, Till Clauditz
BACKGROUND: Deletions of 17p13 recurrently occur in renal cell carcinoma (RCC) but their prognostic role seems to be uncertain. METHODS: To determine prevalence, relationship with tumor phenotype, and patient prognosis, a tissue microarray containing samples from 1809 RCCs was evaluated using dual labeling fluorescence in situ hybridization (FISH) with 17p13 and chromosome 17 centromere probes. RESULTS: A 17p13 deletion was found in 72 of 1429 interpretable tumors...
June 13, 2020: World Journal of Surgical Oncology
Lamia Alsubaie, Taghrid Aloraini, Manal Amoudi, Abdulrahman Swaid, Wafaa Eyiad, Fuad Al Mutairi, Farouq Ababneh, Muhammad Talal Alrifai, Duaa Baarmah, Waleed Altwaijri, Naser Alotaibi, Ashraf Harthi, Ahmad Rumayyan, Ali Alanazi, Mohammad Qrimli, Majid Alfadhel, Ahmed Alfares
INTRODUCTION: Currently, next-generation sequencing (NGS) technology is more accessible and available to detect the genetic causation of diseases. Though NGS technology benefited some clinical phenotypes, for some clinical diagnoses such as seizures and epileptic disorders, adaptation occurred slowly. The genetic diagnosis was mainly based on epilepsy gene panels and not on whole exome and/or genome sequencing. METHOD: We retrospectively analyzed 420 index cases, referred for NGS over a period of 18 months, to investigate the challenges in diagnosing epilepsy...
June 13, 2020: Annals of Human Genetics
Chiara Romano, Silvia Ferranti, Maria Antonietta Mencarelli, Ilaria Longo, Alessandra Renieri, Salvatore Grosso
INTRODUCTION: The short arm of chromosome 17 is characterized by a high density of low copy repeats, creating the opportunity for non-allelic homologous recombination to occur. Microdeletions of the 17p13.3 region are responsible for neuronal migration disorders including isolated lissencephaly sequence and Miller-Dieker syndrome. CASE REPORT: We describe the case of a 4-year and 2-month-old female with peculiar somatic traits and neurodevelopmental delay. At the age of 6 months, she started to present with infantile spasms syndrome; therefore, we administered vigabatrin followed by two cycles of adrenocorticotropic hormone, with good response...
April 22, 2020: Neurological Sciences
Zi-Long Wang, Yang Liu, Ya-Lan Zhou, Jin-Lan Li, Qiu-Yu Sun, Li-Xin Wu, Lei Wen, Yue-Yun Lai, Yan-Rong Liu, Ying-Jun Chang, Hong-Xia Shi, Kai-Yan Liu, Xiao-Jun Huang, Jin Lu, Guo-Rui Ruan
BACKGROUND: Currently, the prognostic stratification and therapeutic evaluation systems for multiple myeloma (MM) lack specific molecular indicators. OC-STAMP is a new gene and is also highly expressed in MM. METHODS: 160 MM patients have been investigated with both quantitative reverse transcription PCR (RT-qPCR), flow cytometry (FCM) and cytogenetic FISH on the same mononuclear cells isolated from bone marrow specimens. RESULTS: We found that OC-STAMP mRNA levels were significantly higher in newly diagnosed cases of MM than in healthy donors (median, 0...
April 13, 2020: European Journal of Haematology
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