Molecular Cytogenetics最新文献

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Correction: Insights into avian molecular cytogenetics-with reptilian comparisons. 更正:对鸟类分子细胞遗传学的见解--与爬行动物的比较。
IF 1.3 4区 生物学
Molecular Cytogenetics Pub Date : 2024-11-22 DOI: 10.1186/s13039-024-00699-9
Darren K Griffin, Rafael Kretschmer, Kornsorn Srikulnath, Worapong Singchat, Rebecca E O'Connor, Michael N Romanov
{"title":"Correction: Insights into avian molecular cytogenetics-with reptilian comparisons.","authors":"Darren K Griffin, Rafael Kretschmer, Kornsorn Srikulnath, Worapong Singchat, Rebecca E O'Connor, Michael N Romanov","doi":"10.1186/s13039-024-00699-9","DOIUrl":"10.1186/s13039-024-00699-9","url":null,"abstract":"","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":"17 1","pages":"29"},"PeriodicalIF":1.3,"publicationDate":"2024-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11583397/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142692752","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Precision oncology platforms: practical strategies for genomic database utilization in cancer treatment. 精准肿瘤学平台:在癌症治疗中利用基因组数据库的实用策略。
IF 1.3 4区 生物学
Molecular Cytogenetics Pub Date : 2024-11-14 DOI: 10.1186/s13039-024-00698-w
Antonia A Gazola, William Lautert-Dutra, Leticia Frohlich Archangelo, Rodolfo B Dos Reis, Jeremy A Squire
{"title":"Precision oncology platforms: practical strategies for genomic database utilization in cancer treatment.","authors":"Antonia A Gazola, William Lautert-Dutra, Leticia Frohlich Archangelo, Rodolfo B Dos Reis, Jeremy A Squire","doi":"10.1186/s13039-024-00698-w","DOIUrl":"10.1186/s13039-024-00698-w","url":null,"abstract":"<p><p>In recent years, the expansion of molecularly targeted cancer therapies has significantly advanced precision oncology. Parallel developments in next-generation sequencing (NGS) technologies have also improved precision oncology applications, making genomic analysis of tumors more affordable and accessible. Targeted NGS panels now enable the rapid identification of diverse actionable mutations, requiring clinicians to efficiently assess the predictive value of cancer biomarkers for specific treatments. The urgency for timely and accurate decision-making in oncology emphasizes the importance of reliable precision oncology software. Online clinical decision-making tools and associated cancer databases have been designed by consolidating genomic data into standardized, accessible formats. These new platforms are highly integrated and crucial for identifying actionable somatic genomic biomarkers essential for tumor survival, determining corresponding drug targets, and selecting appropriate treatments based on the mutational profile of each patient's tumor. To help oncologists and translational cancer researchers unfamiliar with these tools, we review the utility, accuracy, and comprehensiveness of several commonly used precision medicine software options currently available. Our analysis categorized selected genomic databases based on their primary content, utility, and how well they provide practical guidance for interpreting somatic biomarker data. We identified several comprehensive, mostly open-access platforms that are easy to use for genetic biomarker searches, each with unique features and limitations. Among the precision oncology tools we evaluated, we found MyCancerGenome and OncoKB to be the first choice, offering comprehensive, accurate up-to-date information on the clinical significance of somatic mutations. To illustrate the application of these precision oncology tools in clinical settings, we evaluated three case studies to see how use of the platforms could have influenced treatment planning. Most of the precision oncology software evaluated could be easily streamlined into clinical workflows to provide updated information on approved drugs and clinical trials related the actionable mutations detected. Some platforms were very intuitive and easy to use, while others, often developed in smaller academic settings, were more difficult to navigate and may not be updated consistently. Future enhancements, incorporating artificial intelligence algorithms, are likely to improve integration of the platforms with diverse big data sources, enabling more accurate predictions of potential therapeutic responses.</p>","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":"17 1","pages":"28"},"PeriodicalIF":1.3,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11566986/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142624593","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
False-positive XXY results by interphase FISH in cytogenetically normal XX individuals: two cases highlighting the necessity of additional laboratory follow-up. 细胞遗传学正常的 XX 患者相间荧光原位杂交(FISH)的 XXY 假阳性结果:两例强调额外实验室随访必要性的病例。
IF 1.3 4区 生物学
Molecular Cytogenetics Pub Date : 2024-11-13 DOI: 10.1186/s13039-024-00697-x
Qiliang Ding, Abigail L Bronson, Kyna A Byerly, Anna A Essendrup, Elyse B Mitchell, Cassandra K Runke, Ross A Rowsey, Nicole L Hoppman
{"title":"False-positive XXY results by interphase FISH in cytogenetically normal XX individuals: two cases highlighting the necessity of additional laboratory follow-up.","authors":"Qiliang Ding, Abigail L Bronson, Kyna A Byerly, Anna A Essendrup, Elyse B Mitchell, Cassandra K Runke, Ross A Rowsey, Nicole L Hoppman","doi":"10.1186/s13039-024-00697-x","DOIUrl":"10.1186/s13039-024-00697-x","url":null,"abstract":"<p><strong>Background: </strong>Interphase fluorescence in situ hybridization (FISH) is commonly used for rapid aneuploidy detection in clinical settings. While FISH-based aneuploidy detection provides rapid results desirable for patient management, it usually only utilizes one probe per chromosome, which may lead to rare false-positive findings.</p><p><strong>Case presentation: </strong>Here we report two interphase FISH results, which were false-positive for XXY in cytogenetically normal XX individuals. Both false-positive cases were due to hybridization of the Y chromosome centromeric probe DYZ3 to the pericentromeric region of chromosome 15. In both cases, chromosomal microarray revealed no detectable Y chromosome material, suggesting the hybridizations of the DYZ3 probe to chromosome 15 likely represent benign heterochromatic variants of no clinical significance. In one case, the DYZ3 hybridization was also identified in the phenotypically unaffected mother, further suggesting this is likely a rare variant of no clinical significance.</p><p><strong>Conclusions: </strong>This report marks the first documentation of hybridization of the DYZ3 probe to another chromosome in cytogenetically normal individuals. Our report has important clinical implications, because DYZ3 is widely used by clinical laboratories for Y chromosome detection. Our findings underscore the necessity of confirming abnormal aneuploidy detection FISH results with additional laboratory methods such as chromosomal microarray analysis.</p>","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":"17 1","pages":"27"},"PeriodicalIF":1.3,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11558826/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142624617","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Copy number variation heterogeneity reveals biological inconsistency in hierarchical cancer classifications. 拷贝数变异异质性揭示了癌症分级分类的生物学不一致性。
IF 1.3 4区 生物学
Molecular Cytogenetics Pub Date : 2024-11-06 DOI: 10.1186/s13039-024-00692-2
Ziying Yang, Paula Carrio-Cordo, Michael Baudis
{"title":"Copy number variation heterogeneity reveals biological inconsistency in hierarchical cancer classifications.","authors":"Ziying Yang, Paula Carrio-Cordo, Michael Baudis","doi":"10.1186/s13039-024-00692-2","DOIUrl":"10.1186/s13039-024-00692-2","url":null,"abstract":"<p><p>Cancers are heterogeneous diseases with unifying features of abnormal and consuming cell growth, where the deregulation of normal cellular functions is initiated by the accumulation of genomic mutations in cells of - potentially - any organ. At diagnosis malignancies typically present with patterns of somatic genome variants on diverse levels of heterogeneity. Among the different types of genomic alterations, copy number variants (CNV) represent a distinct, near-ubiquitous class of structural variants. Cancer classifications are foundational for patient care and oncology research. Terminologies such as the National Cancer Institute Thesaurus provide large sets of hierarchical cancer classification vocabularies and promote data interoperability and ontology-driven computational analysis. To find out how categorical classifications correspond to genomic observations, we conducted a meta-analysis of inter-sample genomic heterogeneity for classification hierarchies on CNV profiles from 97,142 individual samples across 512 cancer entities, and evaluated recurring CNV signatures across diagnostic subsets. Our results highlight specific biological mechanisms across cancer entities with the potential for improvement of patient stratification and future enhancement of cancer classification systems and provide some indications for cooperative genomic events across distinct clinical entities.</p>","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":"17 1","pages":"26"},"PeriodicalIF":1.3,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11542350/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142591163","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Insights into avian molecular cytogenetics-with reptilian comparisons. 对鸟类分子细胞遗传学的认识--与爬行动物的比较。
IF 1.3 4区 生物学
Molecular Cytogenetics Pub Date : 2024-10-31 DOI: 10.1186/s13039-024-00696-y
Darren K Griffin, Rafael Kretschmer, Kornsorn Srikulnath, Worapong Singchat, Rebecca E O'Connor, Michael N Romanov
{"title":"Insights into avian molecular cytogenetics-with reptilian comparisons.","authors":"Darren K Griffin, Rafael Kretschmer, Kornsorn Srikulnath, Worapong Singchat, Rebecca E O'Connor, Michael N Romanov","doi":"10.1186/s13039-024-00696-y","DOIUrl":"10.1186/s13039-024-00696-y","url":null,"abstract":"<p><p>In last 100 years or so, much information has been accumulated on avian karyology, genetics, physiology, biochemistry and evolution. The chicken genome project generated genomic resources used in comparative studies, elucidating fundamental evolutionary processes, much of it funded by the economic importance of domestic fowl (which are also excellent model species in many areas). Studying karyotypes and whole genome sequences revealed population processes, evolutionary biology, and genome function, uncovering the role of repetitive sequences, transposable elements and gene family expansion. Knowledge of the function of many genes and non-expressed or identified regulatory components is however still lacking. Birds (Aves) are diverse, have striking adaptations for flight, migration and survival and inhabit all continents most islands. They also have a unique karyotype with ~ 10 macrochromosomes and ~ 30 microchromosomes that are smaller than other reptiles. Classified into Palaeognathae and Neognathae they are evolutionarily close, and a subset of reptiles. Here we overview avian molecular cytogenetics with reptilian comparisons, shedding light on their karyotypes and genome structure features. We consider avian evolution, then avian (followed by reptilian) karyotypes and genomic features. We consider synteny disruptions, centromere repositioning, and repetitive elements before turning to comparative avian and reptilian genomics. In this context, we review comparative cytogenetics and genome mapping in birds as well as Z- and W-chromosomes and sex determination. Finally, we give examples of pivotal research areas in avian and reptilian cytogenomics, particularly physical mapping and map integration of sex chromosomal genes, comparative genomics of chicken, turkey and zebra finch, California condor cytogenomics as well as some peculiar cytogenetic and evolutionary examples. We conclude that comparative molecular studies and improving resources continually contribute to new approaches in population biology, developmental biology, physiology, disease ecology, systematics, evolution and phylogenetic systematics orientation. This also produces genetic mapping information for chromosomes active in rearrangements during the course of evolution. Further insights into mutation, selection and adaptation of vertebrate genomes will benefit from these studies including physical and online resources for the further elaboration of comparative genomics approaches for many fundamental biological questions.</p>","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":"17 1","pages":"24"},"PeriodicalIF":1.3,"publicationDate":"2024-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11526677/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142558323","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Detection of regions of homozygosity in an unusual case of frontonasal dysplasia. 在一个不寻常的额叶发育不良病例中检测到同基因遗传区。
IF 1.3 4区 生物学
Molecular Cytogenetics Pub Date : 2024-10-31 DOI: 10.1186/s13039-024-00693-1
César Paz-Y-Miño, Ramón Miguel Vargas-Vera, Martha Verónica Placencia-Ibadango, Kalid Stefano Vargas-Silva, Juan Luis García-Hernández, Thalía Balarezo-Díaz, Paola E Leone
{"title":"Detection of regions of homozygosity in an unusual case of frontonasal dysplasia.","authors":"César Paz-Y-Miño, Ramón Miguel Vargas-Vera, Martha Verónica Placencia-Ibadango, Kalid Stefano Vargas-Silva, Juan Luis García-Hernández, Thalía Balarezo-Díaz, Paola E Leone","doi":"10.1186/s13039-024-00693-1","DOIUrl":"10.1186/s13039-024-00693-1","url":null,"abstract":"<p><p>We present the case of a 7-year-old Ecuadorian mestizo girl with multiple orofacial malformations. The patient is the product of a first-degree relationship (father-daughter). A cytogenetic study revealed a normal karyotype. The genetic mapping array study identified 0.73 Gb of alterations, 727,087,295 bp involved in regions of homozygosity (ROH) in all chromosomes (25.2% of the genome) and 764,028 bp in gains in chromosomes 9 and 14. Genes from the TGFB, BMP, FGF, SHH and WNT families, among others, were identified in the ROH. They are related to craniofacial development and their protein products showed a strong association in the interactome analysis.</p>","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":"17 1","pages":"25"},"PeriodicalIF":1.3,"publicationDate":"2024-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11529214/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142558322","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Correction: X chromosome rearrangement associated with premature ovarian insufficiency as diagnosed by molecular cytogenetic methods: a case report and review of the literature. 更正:通过分子细胞遗传学方法诊断与卵巢早衰相关的 X 染色体重排:病例报告和文献综述。
IF 1.3 4区 生物学
Molecular Cytogenetics Pub Date : 2024-10-11 DOI: 10.1186/s13039-024-00694-0
Zhifang Peng, Renqi Yang, Qing Liu, Binbin Chen, Panpan Long
{"title":"Correction: X chromosome rearrangement associated with premature ovarian insufficiency as diagnosed by molecular cytogenetic methods: a case report and review of the literature.","authors":"Zhifang Peng, Renqi Yang, Qing Liu, Binbin Chen, Panpan Long","doi":"10.1186/s13039-024-00694-0","DOIUrl":"10.1186/s13039-024-00694-0","url":null,"abstract":"","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":"17 1","pages":"23"},"PeriodicalIF":1.3,"publicationDate":"2024-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11470704/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142406639","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Prenatal diagnosis in fetal right aortic arch using chromosomal microarray analysis and whole exome sequencing: a Chinese single-center retrospective study. 利用染色体芯片分析和全外显子测序对胎儿右主动脉弓进行产前诊断:一项中国单中心回顾性研究。
IF 1.3 4区 生物学
Molecular Cytogenetics Pub Date : 2024-09-27 DOI: 10.1186/s13039-024-00691-3
Lu Zhang, Ruibin Huang, Hang Zhou, Xiaomei Lin, Fei Guo, Xiangyi Jing, Yongling Zhang, Fucheng Li, Fatao Li, Qiuxia Yu, Dan Wang, Guilan Chen, Fang Fu, Min Pan, Jin Han, Dongzhi Li, Ru Li
{"title":"Prenatal diagnosis in fetal right aortic arch using chromosomal microarray analysis and whole exome sequencing: a Chinese single-center retrospective study.","authors":"Lu Zhang, Ruibin Huang, Hang Zhou, Xiaomei Lin, Fei Guo, Xiangyi Jing, Yongling Zhang, Fucheng Li, Fatao Li, Qiuxia Yu, Dan Wang, Guilan Chen, Fang Fu, Min Pan, Jin Han, Dongzhi Li, Ru Li","doi":"10.1186/s13039-024-00691-3","DOIUrl":"https://doi.org/10.1186/s13039-024-00691-3","url":null,"abstract":"<p><strong>Background: </strong>Right aortic arch (RAA) is a common congenital aortic arch abnormality. Fetuses with RAA frequently have good outcomes after birth. However, chromosomal abnormalities and genetic syndromes suggest poor prognosis for these patients. So far the underlying genetic etiology is still not identified in most RAA patients based on traditional genetic techniques and a problem is still debated whether fetuses with isolated RAA should be referred for CMA. Our study aims to investigate the genetic etiology of fetuses with right aortic arch (RAA) by chromosomal microarray analysis (CMA) and whole exome sequencing (WES) and evaluate the efficacy of CMA in fetal isolated RAA.</p><p><strong>Results: </strong>Among these 153 fetuses, 99 (64.7%) with isolated RAA and 54 (35.3%) with non-isolated RAA; 25.5% (39/153) with additional intracardiac anomalies (ICA), and 19.0% (29/153) with extracardiac anomalies (ECA). Tetralogy of Fallot (n = 10) and persistent left superior vena cava (n = 11) are the most common ICA and ECA, respectively. CMA detected 15 clinically significant copy number variations (CNVs) in 14 cases (9.2%); microdeletion of 22q11.21 was the most common pathogenic CNVs (7.8%). The chromosomal abnormalities rate was higher in non-isolated RAA and RAA with ICA groups than in isolated RAA group (16.7% vs. 5.1%; 20% vs. 5.1%, both p < 0.05). From five cases further undergoing WES, a diagnostic variant in MTOR gene (c.7255G > A, de novo) was first reported in prenatal, extending the prenatal manifestation of Smith-Kingsmore syndrome (OMIM: 616638); a clinically relevant variant c.3407A > T in STAG2 was identified, being inherited from the healthy mother. Moreover, the premature birth and termination rates were higher in non-isolated RAA group than in isolated RAA group (11.1% vs. 1.0%; 37.0% vs. 2.0%, both p < 0.01).</p><p><strong>Conclusions: </strong>We demonstrate that CMA and WES are useful diagnostic tools for fetal RAA, particularly non-isolated RAA, and all fetuses with RAA should be referred for CMA. The data probably aids in prenatal diagnosis and prenatal counseling of fetal RAA.</p>","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":"17 1","pages":"22"},"PeriodicalIF":1.3,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11438370/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142350676","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Higher prevalence of poor prognostic markers at a younger age in adult patients with myelodysplastic syndrome - evaluation of a large cohort in India. 骨髓增生异常综合征成年患者年龄越小,预后不良标志物的流行率越高--对印度一个大型队列的评估。
IF 1.3 4区 生物学
Molecular Cytogenetics Pub Date : 2024-09-27 DOI: 10.1186/s13039-024-00687-z
Vivi M Srivastava, Sukesh Chandran Nair, Melvin Joy, Marie-Therese Manipadam, Uday P Kulkarni, Anup J Devasia, N A Fouzia, Anu Korula, Kavitha M Lakshmi, L Jeyaseelan, Aby Abraham, Alok Srivastava
{"title":"Higher prevalence of poor prognostic markers at a younger age in adult patients with myelodysplastic syndrome - evaluation of a large cohort in India.","authors":"Vivi M Srivastava, Sukesh Chandran Nair, Melvin Joy, Marie-Therese Manipadam, Uday P Kulkarni, Anup J Devasia, N A Fouzia, Anu Korula, Kavitha M Lakshmi, L Jeyaseelan, Aby Abraham, Alok Srivastava","doi":"10.1186/s13039-024-00687-z","DOIUrl":"https://doi.org/10.1186/s13039-024-00687-z","url":null,"abstract":"<p><strong>Background: </strong>The karyotype is a major determinant of prognosis in myelodysplastic syndrome (MDS). Details of the cytogenetic profile of MDS in South Asia are limited because cytogenetic services are not widely available.</p><p><strong>Methods: </strong>We performed a retrospective analysis of the cytogenetic and clinicopathologic profile of adult primary MDS seen consecutively at a tertiary-care centre in South India between 2003 and 2017. Patients were re-categorised according to the 2022 World Health Organisation (WHO) and the International Consensus classifications (ICC).</p><p><strong>Results: </strong>There were 936 patients aged 18-86 years (median age 53, 65% males), with MDS with del 5q, low blasts and increased blasts in 7.5%, 58.4% and 34.1% respectively. Clonal abnormalities were seen in 55% of patients, with solitary abnormalities in 29.8% and complex karyotypes (CK, ≥ 3 abnormalities) in 15%. The most frequent abnormalities were monosomy 7/deletion 7q (16.1%), deletion 5q (14.5%), trisomy 8 (11.5%), and deletion 20q (5.1%). Cytogenetic prognosis groups were distributed as follows: very good, 2%; good, 55.6%; intermediate, 16.2%; poor, 15%; very poor, 11.2%. Clinical (IPSS-R) risk stratification (842 patients) showed: very low-risk, 3.9%; low-risk, 30.9%; intermediate-risk, 24.2%; high-risk, 21%; very high-risk, 20%. Age-adjustment (IPSS-RA) raised the very low-risk group to 12.4%; the other groups decreased by 1-3% each.</p><p><strong>Conclusion: </strong>The most significant finding of this cytogenetic analysis of MDS in India is that abnormal karyotypes with poor prognosis markers including monosomy 7 and CK were more frequent than in most other reports, among patients who were overall younger. Trisomy 8, deletion 20q, the IPSS-R intermediate-risk and both high-risk groups were more common than in the West. Trisomy 8 was less common than in South-East Asia while CK and deletion 20q were comparable. Evaluation of such large cohorts highlights the unique features of MDS in different parts of the world. These findings suggest that there could be differences in predisposing factors, environmental or genetic, and emphasise the need for further exploration to better understand the varied nature of MDS.</p>","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":"17 1","pages":"21"},"PeriodicalIF":1.3,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11438259/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142350675","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Prenatal diagnosis of fetuses with 15q11.2 BP1-BP2 microdeletion in the Chinese population: a seven-year single-center retrospective study. 中国人群中 15q11.2 BP1-BP2 微缺失胎儿的产前诊断:一项为期七年的单中心回顾性研究。
IF 1.3 4区 生物学
Molecular Cytogenetics Pub Date : 2024-09-02 DOI: 10.1186/s13039-024-00690-4
Jianlong Zhuang, Na Zhang, Wanyu Fu, Yuying Jiang, Yu'e Chen, Chunnuan Chen
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