Cold Spring Harbor Molecular Case Studies最新文献_第7页

A biallelic loss-of-function variant in MYZAP is associated with a recessive form of severe dilated cardiomyopathy. MYZAP的一个双偶功能缺失变体与一种隐性重度扩张型心肌病有关。

IF 1.8

Cold Spring Harbor Molecular Case Studies Pub Date : 2022-07-15 DOI: 10.1101/mcs.a006221

Ales Maver, Tamara Zigman, Ashraf Yusuf Rangrez, Marijana Coric, Jan Homolak, Dalibor Saric, Iva Skific, Mario Udovicic, Marija Zekusic, Umber Saleem, Sandra D Laufer, Arne Hansen, Norbert Frey, Ivo Baric, Borut Peterlin

{"title":"A biallelic loss-of-function variant in MYZAP is associated with a recessive form of severe dilated cardiomyopathy.","authors":"Ales Maver, Tamara Zigman, Ashraf Yusuf Rangrez, Marijana Coric, Jan Homolak, Dalibor Saric, Iva Skific, Mario Udovicic, Marija Zekusic, Umber Saleem, Sandra D Laufer, Arne Hansen, Norbert Frey, Ivo Baric, Borut Peterlin","doi":"10.1101/mcs.a006221","DOIUrl":"10.1101/mcs.a006221","url":null,"abstract":"Purpose: Dilated cardiomyopathy (DCM) is a primary disorder of the cardiac muscle, characterised by dilatation of the left ventricle and contractile dysfunction. About 50% of DCM cases can be attributed to monogenic causes, whereas the aetiology in the remaining patients remains unexplained.Methods: We report a family with two brothers affected by severe DCM with onset in the adolescent period. Using exome sequencing, we identified a homozygous premature termination variant in the MYZAP gene in both affected sibs. MYZAP encodes for myocardial zonula adherens protein - a conserved cardiac protein in the intercalated disc structure of cardiomyocytes.Results: The effect of the variant was demonstrated by light and electron microscopy of the heart muscle and immunohistochemical and Western blot analysis of MYZAP protein in the heart tissue of the proband. Functional characterization using patient-derived induced pluripotent stem cell cardiomyocytes revealed significantly lower force and longer time to peak contraction and relaxation consistent with severe contractile dysfunction.Conclusion: We provide independent support for the role of biallelic loss-of-function MYZAP variants in dilated cardiomyopathy. This report extends the spectrum of cardiac disease associated with dysfunction of cardiac intercalated disc junction and sheds light on the mechanisms leading to DCM.","PeriodicalId":10360,"journal":{"name":"Cold Spring Harbor Molecular Case Studies","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2022-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/02/18/MCS006221Mav.PMC9528970.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40509415","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Genomic surveillance of SARS-CoV-2 during the first year of the pandemic in the Bronx enabled clinical and epidemiological inference. 在布朗克斯大流行的第一年，对 SARS-CoV-2 进行基因组监测，从而得出临床和流行病学推论。

IF 1.8

Cold Spring Harbor Molecular Case Studies Pub Date : 2022-07-13 DOI: 10.1101/mcs.a006211

J Maximilian Fels, Saad Khan, Ryan Forster, Karin A Skalina, Surksha Sirichand, Amy S Fox, Aviv Bergman, William B Mitchell, Lucia R Wolgast, Wendy A Szymczak, Robert H Bortz, M Eugenia Dieterle, Catalina Florez, Denise Haslwanter, Rohit K Jangra, Ethan Laudermilch, Ariel S Wirchnianski, Jason Barnhill, David L Goldman, Hnin Khine, D Yitzchak Goldstein, Johanna P Daily, Kartik Chandran, Libusha Kelly

{"title":"Genomic surveillance of SARS-CoV-2 during the first year of the pandemic in the Bronx enabled clinical and epidemiological inference.","authors":"J Maximilian Fels, Saad Khan, Ryan Forster, Karin A Skalina, Surksha Sirichand, Amy S Fox, Aviv Bergman, William B Mitchell, Lucia R Wolgast, Wendy A Szymczak, Robert H Bortz, M Eugenia Dieterle, Catalina Florez, Denise Haslwanter, Rohit K Jangra, Ethan Laudermilch, Ariel S Wirchnianski, Jason Barnhill, David L Goldman, Hnin Khine, D Yitzchak Goldstein, Johanna P Daily, Kartik Chandran, Libusha Kelly","doi":"10.1101/mcs.a006211","DOIUrl":"10.1101/mcs.a006211","url":null,"abstract":"The Bronx was an early epicenter of the COVID-19 pandemic in the USA. We conducted temporal genomic surveillance of 104 SARS-CoV-2 genomes across the Bronx from March October 2020. Although the local structure of SARS-CoV-2 lineages mirrored those of New York City and New York State, temporal sampling revealed a dynamic and changing landscape of SARS-CoV-2 genomic diversity. Mapping the trajectories of mutations, we found that while some became 'endemic' to the Bronx, other, novel mutations rose in prevalence in the late summer/early fall. Geographically resolved genomes enabled us to distinguish between cases of reinfection and persistent infection in two pediatric patients. We propose that limited, targeted, temporal genomic surveillance has clinical and epidemiological utility in managing the ongoing COVID pandemic.","PeriodicalId":10360,"journal":{"name":"Cold Spring Harbor Molecular Case Studies","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2022-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/1e/3d/MCS006211Fel.PMC9528964.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40519050","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

EWSR1-TFCP2 in an adolescent represents an extremely rare and aggressive form of intraosseous spindle cell rhabdomyosarcomas. 一名青少年的 EWSR1-TFCP2 肿瘤是一种极为罕见的骨内纺锤形细胞横纹肌肉瘤，具有侵袭性。

IF 1.8

Cold Spring Harbor Molecular Case Studies Pub Date : 2022-06-29 DOI: 10.1101/mcs.a006209

Agnesa Panferova, Kseniya Yu Sinichenkova, Meriam Abu Jabal, Natalia Usman, Anastasya Sharlai, Vitalii Roshchin, Dmitry Konovalov, Alexander Druy

{"title":"EWSR1-TFCP2 in an adolescent represents an extremely rare and aggressive form of intraosseous spindle cell rhabdomyosarcomas.","authors":"Agnesa Panferova, Kseniya Yu Sinichenkova, Meriam Abu Jabal, Natalia Usman, Anastasya Sharlai, Vitalii Roshchin, Dmitry Konovalov, Alexander Druy","doi":"10.1101/mcs.a006209","DOIUrl":"10.1101/mcs.a006209","url":null,"abstract":"The WHO Classification of Tumors of Soft Tissue and Bone subdivides rhabdomyosarcomas (RMS) into alveolar, embryonal, pleomorphic, and spindle cell RMS. Advances in molecular genetic diagnostics have made it possible to identify new RMS subgroups within traditional morphological entities. One of these subgroups comprises rare tumors characterized by epithelioid and spindle cell morphology, highly aggressive clinical course with pronounced tendency to intraosseous growth, and the presence of pathognomonic recurring genetic aberrations- chimeric genes/transcripts EWSR1::TFCP2, FUS::TFCP2, or MEIS1::NCOA2. Starting from 2018, only 26 reported cases of RMS have been assigned to this subgroup. The rarity of such tumors hampers their correct diagnostics for both anatomic pathologists and molecular oncologists. Here we describe a clinical case of intraosseous spindle cell RMS expressing EWSR1::TFCP2 fusion gene, encountered for the first time in our practice, in a 16-year-old female patient presenting with mandibular lesion. The diagnostic process took considerable time and involved RNA sequencing; a high-throughput method of molecular genetic research. The tumor was extremely aggressive, showing resistance to polychemotherapy, radiation therapy, and crizotinib targeted therapy, with the fatal outcome.","PeriodicalId":10360,"journal":{"name":"Cold Spring Harbor Molecular Case Studies","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2022-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/27/02/MCS006209Pan.PMC9528966.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40409728","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report. 与小头畸形伴下颌面骨缺损相关的EFTUD2从头开始缺失:病例报告。

IF 1.8

Cold Spring Harbor Molecular Case Studies Pub Date : 2022-06-22 Print Date: 2022-06-01 DOI: 10.1101/mcs.a006206

Muhammad Kohailan, Omayma Al-Saei, Sujitha Padmajeya, Waleed Aamer, Najwa Elbashir, Ammira Al-Shabeeb Akil, Abdul-Rauf Kamboh, Khalid Fakhro

引用次数: 2

WP1066 induces cell death in a schwannomatosis patient-derived schwannoma cell line. WP1066诱导神经鞘瘤患者源性神经鞘瘤细胞系细胞死亡

IF 1.8

Cold Spring Harbor Molecular Case Studies Pub Date : 2022-06-22 Print Date: 2022-06-01 DOI: 10.1101/mcs.a006178

Abdulrahman Allaf, Berta Victoria, Rosa Rosario, Carly Misztal, Sakir Humayun Gultekin, Christine T Dinh, Cristina Fernandez-Valle

{"title":"WP1066 induces cell death in a schwannomatosis patient-derived schwannoma cell line.","authors":"Abdulrahman Allaf, Berta Victoria, Rosa Rosario, Carly Misztal, Sakir Humayun Gultekin, Christine T Dinh, Cristina Fernandez-Valle","doi":"10.1101/mcs.a006178","DOIUrl":"https://doi.org/10.1101/mcs.a006178","url":null,"abstract":"Schwannomatosis is a rare genetic disorder that predisposes individuals to development of multiple schwannomas mainly in spinal and peripheral nerves and to debilitating chronic pain often unrelated to any schwannoma. Pathogenic variants of two genes, SMARCB1 and LZTR1, are causal in familial cases. However, many schwannomatosis patients lack mutations in these genes. Surgery is the standard treatment for schwannomas but leaves patients with increasing neurological deficits. Pain management is a daily struggle controlled by the use of multiple analgesic and anti-inflammatory drugs. There is a need for both nonsurgical treatment to manage tumor growth and nonaddictive, nonsedative pain control. Because standard clinical trials are exceedingly difficult for patients with rare disorders, precision medicine approaches offer the possibility of bespoke therapeutic regimens to control tumor growth. As a proof of principle, we obtained a bio-specimen of paraspinal schwannoma from a schwannomatosis patient with a germline point mutation in the SMARCB1/INI gene. We created an hTERT immortalized cell line and tested the ability of targeted small molecules with efficacy in neurofibromatosis type 2-related schwannomas to reduce cell viability and induce cell death. We identified WP1066, a STAT3 inhibitor, currently in phase 2 clinical trials for pediatric and adult brain tumors as a lead compound. It reduced cell viability and STAT-3 phosphorylation and induced expression of markers for both necroptosis and caspase-dependent cell death. The results demonstrate feasibility in creating patient-derived cell lines for use in precision medicine studies.","PeriodicalId":10360,"journal":{"name":"Cold Spring Harbor Molecular Case Studies","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2022-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/2f/1c/MCS006178All.PMC9235848.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40209246","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Expanding the phenotype of ATP6AP1 deficiency. 扩大ATP6AP1缺乏症表型。

IF 1.8

Cold Spring Harbor Molecular Case Studies Pub Date : 2022-06-22 Print Date: 2022-06-01 DOI: 10.1101/mcs.a006195

Subit Barua, Sara Berger, Elaine M Pereira, Vaidehi Jobanputra

{"title":"Expanding the phenotype of ATP6AP1 deficiency.","authors":"Subit Barua, Sara Berger, Elaine M Pereira, Vaidehi Jobanputra","doi":"10.1101/mcs.a006195","DOIUrl":"https://doi.org/10.1101/mcs.a006195","url":null,"abstract":"Vacuolar ATPases (V-ATPases) are large multisubunit proton pumps conserved among all eukaryotic cells that are involved in diverse functions including acidification of membrane-bound intracellular compartments. The ATP6AP1 gene encodes an accessory subunit of the vacuolar (V)-ATPase protein pump. Pathogenic variants in ATP6AP1 have been described in association with a congenital disorder of glycosylation (CDG), which are highly variable, but often characterized by immunodeficiency, hepatopathy, and neurologic manifestations. Although the most striking and common clinical feature is hepatopathy, the phenotypic and genotypic spectrum of ATP6AP1-CDG continues to expand. Here, we report identical twins who presented with acute liver failure and jaundice. Prenatal features included cystic hygroma, atrial septal defect, and ventriculomegaly. Postnatal features included pectus carinatum, connective tissue abnormalities, and hypospadias. Whole-exome sequencing (WES) revealed a novel de novo in-frame deletion in the ATP6AP1 gene (c.230_232delACT;p.Tyr77del). Although both twins have the commonly reported clinical feature of hepatopathy seen in other individuals with ATP6AP1-CDG-related disorder, they do not have neurological sequelae. This report expands the phenotypic spectrum of ATP6AP1-CDG-related disorder with both probands exhibiting unique prenatal and postnatal features, including fetal ventriculomegaly, umbilical hernia, pectus carinatum, micropenis, and hypospadias. Furthermore, this case affirms that neurological features described in the initial case series on ATP6AP1-CDG do not appear to be central, whereas the prenatal and connective tissue manifestations may be more common than previously thought. This emphasizes the importance of long-term clinical follow-up and variant interpretation using current updated recommendations.","PeriodicalId":10360,"journal":{"name":"Cold Spring Harbor Molecular Case Studies","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2022-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/c0/b9/MCS006195Bar.PMC9235842.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40209243","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 3

Incidental discovery of acute myeloid leukemia during liquid biopsy of a lung cancer patient. 在肺癌患者的液体活检中偶然发现急性髓性白血病。

IF 1.8

Cold Spring Harbor Molecular Case Studies Pub Date : 2022-06-22 Print Date: 2022-06-01 DOI: 10.1101/mcs.a006201

Dingani Nkosi, Caroline A Miller, Audrey N Jajosky, Zoltán N Oltvai

{"title":"Incidental discovery of acute myeloid leukemia during liquid biopsy of a lung cancer patient.","authors":"Dingani Nkosi, Caroline A Miller, Audrey N Jajosky, Zoltán N Oltvai","doi":"10.1101/mcs.a006201","DOIUrl":"https://doi.org/10.1101/mcs.a006201","url":null,"abstract":"Liquid biopsy is considered an alternative to standard next-generation sequencing (NGS) of solid tumor samples when biopsy tissue is inadequate for testing or when testing of a peripheral blood sample is preferred. A common assumption of liquid biopsies is that the NGS data obtained on circulating cell-free DNA is a high-fidelity reflection of what would be found by solid tumor testing. Here, we describe a case that challenges this widely held assumption. A patient diagnosed with lung carcinoma showed pathogenic IDH1 and TP53 mutations by liquid biopsy NGS at an outside laboratory. Subsequent in-house NGS of a metastatic lymph node fine-needle aspiration (FNA) sample revealed two pathogenic EGFR mutations. Morphologic and immunophenotypic assessment of the patient's blood sample identified acute myeloid leukemia, with in-house NGS confirming and identifying pathogenic IDH1, TP53, and BCOR mutations, respectively. This case, together with a few similar reports, demonstrates that caution is needed when interpreting liquid biopsy NGS results, especially if they are inconsistent with the presumptive diagnosis. Our case suggests that routine parallel sequencing of peripheral white blood cells would substantially increase the fidelity of the obtained liquid biopsy results.","PeriodicalId":10360,"journal":{"name":"Cold Spring Harbor Molecular Case Studies","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2022-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/af/10/MCS006201Nko.PMC9235846.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40209244","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

A case of microsatellite instability-high clinically advanced castration-resistant prostate cancer showing a remarkable response to pembrolizumab sustained over at least 18 months 微卫星不稳定性-临床晚期去势抵抗性前列腺癌1例，对派姆单抗的显著反应持续至少18个月

IF 1.8

Cold Spring Harbor Molecular Case Studies Pub Date : 2022-04-29 DOI: 10.1101/mcs.a006194

Kosuke Shimizu, Takeshi Sano, Kei Mizuno, T. Sunada, N. Makita, H. Hagimoto, Takayuki Goto, A. Sawada, M. Fujimoto, K. Ichioka, Osamu Ogawa, Takashi Kobayashi, S. Akamatsu

{"title":"A case of microsatellite instability-high clinically advanced castration-resistant prostate cancer showing a remarkable response to pembrolizumab sustained over at least 18 months","authors":"Kosuke Shimizu, Takeshi Sano, Kei Mizuno, T. Sunada, N. Makita, H. Hagimoto, Takayuki Goto, A. Sawada, M. Fujimoto, K. Ichioka, Osamu Ogawa, Takashi Kobayashi, S. Akamatsu","doi":"10.1101/mcs.a006194","DOIUrl":"https://doi.org/10.1101/mcs.a006194","url":null,"abstract":"Defective DNA mismatch repair genes can lead to microsatellite instability (MSI)-high status in prostate cancer (PC). Accumulation of replication errors in DNA leads to the production of abundant neoantigens, which could be targets for immune checkpoint inhibitors (CPIs). However, the incidence of MSI-high PC is low, and not all patients show a satisfactory therapeutic response to CPIs. Here, we present the case of a patient with MSI-high castration-resistant PC who showed a remarkable and durable response to pembrolizumab. The patient was resistant to abiraterone, docetaxel, and cabazitaxel and was suffering from multiple tumor-associated or treatment-related complications, such as urinary tract infection, infective endocarditis, and uncontrollable prostatic hemorrhage. Soon after the start of pembrolizumab therapy, the patient showed a dramatic decrease in prostate-specific antigen from 35.67 ng/mL to an undetectable level and a remarkable reduction in the size of a massive prostate mass and lymph node metastases, with an absence of treatment-related complications. Specimens from the transurethral resection of prostate cancer during cabazitaxel treatment for control of prostate bleeding and also that from the prostate biopsy at initial diagnosis revealed MSI-high status. Immunohistochemistry showed loss of MSH2 and MSH6, and whole-exome sequencing revealed an approximate tumor mutation burden of 61 mutations/Mb as well as biallelic loss of MSH2. Pembrolizumab could show a significant effect even in a heavily treated patient with MSI-high advanced PC. Accumulation of detailed clinical and genomic information of cases of MSI-high PC treated with pembrolizumab is necessary for optimal patient selection.","PeriodicalId":10360,"journal":{"name":"Cold Spring Harbor Molecular Case Studies","volume":"31 1","pages":""},"PeriodicalIF":1.8,"publicationDate":"2022-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79844686","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 3

Histological and molecular plasticity of ALK-positive non-small-cell lung cancer under targeted therapy: a case report. 靶向治疗下alk阳性非小细胞肺癌的组织学和分子可塑性1例

IF 1.8

Cold Spring Harbor Molecular Case Studies Pub Date : 2022-04-28 Print Date: 2022-04-01 DOI: 10.1101/mcs.a006156

Markus Ball, Petros Christopoulos, Martina Kirchner, Michael Allgäuer, Regine Brandt, Hauke Winter, Claus Peter Heußel, Felix Herth, Stefan Fröhling, Rajkumar Savai, Mark Kriegsmann, Peter Schirmacher, Solange Peters, Michael Thomas, Albrecht Stenzinger, Daniel Kazdal

{"title":"Histological and molecular plasticity of ALK-positive non-small-cell lung cancer under targeted therapy: a case report.","authors":"Markus Ball, Petros Christopoulos, Martina Kirchner, Michael Allgäuer, Regine Brandt, Hauke Winter, Claus Peter Heußel, Felix Herth, Stefan Fröhling, Rajkumar Savai, Mark Kriegsmann, Peter Schirmacher, Solange Peters, Michael Thomas, Albrecht Stenzinger, Daniel Kazdal","doi":"10.1101/mcs.a006156","DOIUrl":"https://doi.org/10.1101/mcs.a006156","url":null,"abstract":"With medical progress in cancer therapy, tyrosine kinase inhibitors (TKIs) became a standard of care for many cancer types. But the broad range of possible targeted therapies was accompanied by a plethora of potential resistance mechanisms, of which many have still to be identified. Here, we present the case of a patient with an EML4-ALK translocated non-small-cell lung cancer treated with four different TKIs. Her tumor developed not only a well-known ALK-TKI resistance mutation but also underwent a histological transformation from adenocarcinoma to squamous cell carcinoma. To confirm a shared monoclonal origin of the phenotypically different tumors, a phylogenetic reconstruction was conducted: This revealed a cluster of mutations including NFE2L2, KMT2D, and MLH1, which are possible triggering events for the transformation.","PeriodicalId":10360,"journal":{"name":"Cold Spring Harbor Molecular Case Studies","volume":"8 3","pages":""},"PeriodicalIF":1.8,"publicationDate":"2022-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/4a/78/MCS006156Bal.PMC9059782.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39843368","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 3

9p21.3 Microdeletion involving CDKN2A/2B in a young patient with multiple primary cancers and review of the literature 涉及CDKN2A/2B的微缺失在多原发癌症年轻患者中的应用及文献回顾

IF 1.8

Cold Spring Harbor Molecular Case Studies Pub Date : 2022-04-14 DOI: 10.1101/mcs.a006164

Marlene Richter Jensen, U. Stoltze, T. V. Hansen, M. Bak, A. Sehested, C. Rechnitzer, R. Mathiasen, D. Scheie, K. B. Larsen, T. Olsen, A. Muhic, J. Skjøth-Rasmussen, M. Rossing, K. Schmiegelow, K. Wadt

引用次数: 1