Pub Date : 2023-08-18eCollection Date: 2023-05-01DOI: 10.1093/ehjimp/qyad021
Lavinia Del Punta, Nicolò De Biase, Silvia Armenia, Valerio Di Fiore, Davide Maremmani, Luna Gargani, Matteo Mazzola, Marco De Carlo, Alessandro Mengozzi, Tommaso Lomonaco, Gian Giacomo Galeotti, Frank L Dini, Stefano Masi, Nicola Riccardo Pugliese
Exercise intolerance is a prominent feature of several cardiovascular conditions. However, the physical effort requires the intertwined adaptation of several factors, namely the cardiovascular system, the lungs, and peripheral muscles. Several abnormalities in each domain may be present in a given patient. Cardiopulmonary exercise testing (CPET) has been used to investigate metabolic and ventilatory alterations responsible for exercise intolerance but does not allow for direct evaluation of cardiovascular function. However, this can readily be obtained by concomitant exercise-stress echocardiography (ESE). The combined CPET-ESE approach allows for precise and thorough phenotyping of the pathophysiologic mechanisms underpinning exercise intolerance. Thus, it can be used to refine the diagnostic workup of patients with dyspnoea of unknown origin, as well as improve risk stratification and potentially guide the therapeutic approach in specific conditions, including left and right heart failure or valvular heart disease. However, given its hitherto sporadic use, both the conceptual and technical aspects of CPET-ESE are often poorly known by the clinician. Improving knowledge in this field could significantly aid in anticipating individual disease trajectories and tailoring treatment strategies accordingly. Therefore, we designed this review to revise the pathophysiologic correlates of exercise intolerance, the practical principles of the combined CPET-ESE examination, and its main applications according to current literature.
{"title":"Combining cardiopulmonary exercise testing with echocardiography: a multiparametric approach to the cardiovascular and cardiopulmonary systems.","authors":"Lavinia Del Punta, Nicolò De Biase, Silvia Armenia, Valerio Di Fiore, Davide Maremmani, Luna Gargani, Matteo Mazzola, Marco De Carlo, Alessandro Mengozzi, Tommaso Lomonaco, Gian Giacomo Galeotti, Frank L Dini, Stefano Masi, Nicola Riccardo Pugliese","doi":"10.1093/ehjimp/qyad021","DOIUrl":"10.1093/ehjimp/qyad021","url":null,"abstract":"<p><p>Exercise intolerance is a prominent feature of several cardiovascular conditions. However, the physical effort requires the intertwined adaptation of several factors, namely the cardiovascular system, the lungs, and peripheral muscles. Several abnormalities in each domain may be present in a given patient. Cardiopulmonary exercise testing (CPET) has been used to investigate metabolic and ventilatory alterations responsible for exercise intolerance but does not allow for direct evaluation of cardiovascular function. However, this can readily be obtained by concomitant exercise-stress echocardiography (ESE). The combined CPET-ESE approach allows for precise and thorough phenotyping of the pathophysiologic mechanisms underpinning exercise intolerance. Thus, it can be used to refine the diagnostic workup of patients with dyspnoea of unknown origin, as well as improve risk stratification and potentially guide the therapeutic approach in specific conditions, including left and right heart failure or valvular heart disease. However, given its hitherto sporadic use, both the conceptual and technical aspects of CPET-ESE are often poorly known by the clinician. Improving knowledge in this field could significantly aid in anticipating individual disease trajectories and tailoring treatment strategies accordingly. Therefore, we designed this review to revise the pathophysiologic correlates of exercise intolerance, the practical principles of the combined CPET-ESE examination, and its main applications according to current literature.</p>","PeriodicalId":55596,"journal":{"name":"Cancer Genetics and Cytogenetics","volume":"84 1","pages":"qyad021"},"PeriodicalIF":0.0,"publicationDate":"2023-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11195726/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75173244","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}
Pub Date : 2019-11-01DOI: 10.7861/clinmed.2019-0256
Sarah Barber, Edward Singleton, Judith Sl Partridge, Jugdeep K Dhesi
{"title":"Training doctors in perioperative medicine for older people undergoing surgery (POPS): an innovative foundation placement.","authors":"Sarah Barber, Edward Singleton, Judith Sl Partridge, Jugdeep K Dhesi","doi":"10.7861/clinmed.2019-0256","DOIUrl":"10.7861/clinmed.2019-0256","url":null,"abstract":"","PeriodicalId":55596,"journal":{"name":"Cancer Genetics and Cytogenetics","volume":"38 1","pages":"465-467"},"PeriodicalIF":4.4,"publicationDate":"2019-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6899244/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75165503","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}
Pub Date : 2017-01-01Epub Date: 2016-11-03DOI: 10.2337/dc16-1358
Pavithra Vijayakumar, Robert G Nelson, Robert L Hanson, William C Knowler, Madhumita Sinha
Objective: Long-term data validating glycated hemoglobin (HbA1c) in assessing the risk of type 2 diabetes in children are limited. HbA1c, fasting plasma glucose (FPG), and 2-h postload plasma glucose (2hPG) concentrations were measured in a longitudinal study of American Indians to determine their utility in predicting incident diabetes, all of which is thought to be type 2 in this population.
Research design and methods: Incident diabetes (FPG ≥126 mg/dL [7.0 mmol/L], 2hPG ≥200 mg/dL [11.1 mmol/L], HbA1c ≥6.5% [8 mmol/mol], or clinical diagnosis) was determined in 2,095 children without diabetes ages 10-19 years monitored through age 39, and in 2,005 adults ages 20-39 monitored through age 59. Areas under the receiver operating characteristic (ROC) curve for HbA1c, FPG, and 2hPG in predicting diabetes within 10 years were compared.
Results: During long-term follow-up of children and adolescents who did not initially have diabetes, the incidence rate of subsequent diabetes was fourfold (in boys) as high and more than sevenfold (in girls) as high in those with HbA1c ≥5.7% as in those with HbA1c ≤5.3%-greater rate ratios than experienced by adults in the same HbA1c categories. Analyses of ROCs revealed no significant differences between HbA1c, FPG, and 2hPG in sensitivity and specificity for identifying children and adolescents who later developed diabetes.
Conclusions: HbA1c is a useful predictor of diabetes risk in children and can be used to identify prediabetes in children with other type 2 diabetes risk factors with the same predictive value as FPG and 2hPG.
{"title":"HbA1c and the Prediction of Type 2 Diabetes in Children and Adults.","authors":"Pavithra Vijayakumar, Robert G Nelson, Robert L Hanson, William C Knowler, Madhumita Sinha","doi":"10.2337/dc16-1358","DOIUrl":"10.2337/dc16-1358","url":null,"abstract":"<p><strong>Objective: </strong>Long-term data validating glycated hemoglobin (HbA<sub>1c</sub>) in assessing the risk of type 2 diabetes in children are limited. HbA<sub>1c</sub>, fasting plasma glucose (FPG), and 2-h postload plasma glucose (2hPG) concentrations were measured in a longitudinal study of American Indians to determine their utility in predicting incident diabetes, all of which is thought to be type 2 in this population.</p><p><strong>Research design and methods: </strong>Incident diabetes (FPG ≥126 mg/dL [7.0 mmol/L], 2hPG ≥200 mg/dL [11.1 mmol/L], HbA<sub>1c</sub> ≥6.5% [8 mmol/mol], or clinical diagnosis) was determined in 2,095 children without diabetes ages 10-19 years monitored through age 39, and in 2,005 adults ages 20-39 monitored through age 59. Areas under the receiver operating characteristic (ROC) curve for HbA<sub>1c</sub>, FPG, and 2hPG in predicting diabetes within 10 years were compared.</p><p><strong>Results: </strong>During long-term follow-up of children and adolescents who did not initially have diabetes, the incidence rate of subsequent diabetes was fourfold (in boys) as high and more than sevenfold (in girls) as high in those with HbA<sub>1c</sub> ≥5.7% as in those with HbA<sub>1c</sub> ≤5.3%-greater rate ratios than experienced by adults in the same HbA<sub>1c</sub> categories. Analyses of ROCs revealed no significant differences between HbA<sub>1c</sub>, FPG, and 2hPG in sensitivity and specificity for identifying children and adolescents who later developed diabetes.</p><p><strong>Conclusions: </strong>HbA<sub>1c</sub> is a useful predictor of diabetes risk in children and can be used to identify prediabetes in children with other type 2 diabetes risk factors with the same predictive value as FPG and 2hPG.</p>","PeriodicalId":55596,"journal":{"name":"Cancer Genetics and Cytogenetics","volume":"244 1","pages":"16-21"},"PeriodicalIF":14.8,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5180461/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"68889258","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}
Erin Damery, Dominic A Solimando, J Aubrey Waddell
The complexity of cancer chemotherapy requires pharmacists be familiar with the complicated regimens and highly toxic agents used. This column reviews various issues related to preparation, dispensing, and administration of antineoplastic therapy, and the agents, both commercially available and investigational, used to treat malignant diseases. Questions or suggestions for topics should be addressed to Dominic A. Solimando, Jr., President, Oncology Pharmacy Services, Inc., 4201 Wilson Blvd #110-545, Arlington, VA 22203, e-mail: OncRxSvc@comcast.net; or J. Aubrey Waddell, Professor, University of Tennessee College of Pharmacy; Oncology Pharmacist, Pharmacy Department, Blount Memorial Hospital, 907 E. Lamar Alexander Parkway, Maryville, TN 37804, e-mail: waddfour@charter.net.
癌症化疗的复杂性要求药剂师熟悉复杂的方案和使用的高毒性药物。本专栏回顾了与抗肿瘤治疗的制备、分配和管理相关的各种问题,以及用于治疗恶性疾病的市售和研究用药物。有关主题的问题或建议应提交给肿瘤药物服务公司总裁Dominic A. Solimando, Jr.,地址:4201 Wilson Blvd #110-545, Arlington, VA 22203,电子邮件:OncRxSvc@comcast.net;或J. Aubrey Waddell,田纳西大学药学院教授;布朗特纪念医院肿瘤科药剂师,907 E. Lamar Alexander Parkway, Maryville, TN 37804, e-mail: waddfour@charter.net。
{"title":"Arsenic Trioxide and Tretinoin (AsO/ATRA) for Acute Promyelocytic Leukemia (APL).","authors":"Erin Damery, Dominic A Solimando, J Aubrey Waddell","doi":"10.1310/hpj5108-628","DOIUrl":"10.1310/hpj5108-628","url":null,"abstract":"<p><p>The complexity of cancer chemotherapy requires pharmacists be familiar with the complicated regimens and highly toxic agents used. This column reviews various issues related to preparation, dispensing, and administration of antineoplastic therapy, and the agents, both commercially available and investigational, used to treat malignant diseases. Questions or suggestions for topics should be addressed to Dominic A. Solimando, Jr., President, Oncology Pharmacy Services, Inc., 4201 Wilson Blvd #110-545, Arlington, VA 22203, e-mail: OncRxSvc@comcast.net; or J. Aubrey Waddell, Professor, University of Tennessee College of Pharmacy; Oncology Pharmacist, Pharmacy Department, Blount Memorial Hospital, 907 E. Lamar Alexander Parkway, Maryville, TN 37804, e-mail: waddfour@charter.net.</p>","PeriodicalId":55596,"journal":{"name":"Cancer Genetics and Cytogenetics","volume":"214 1","pages":"628-632"},"PeriodicalIF":0.7,"publicationDate":"2016-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1310/hpj5108-628","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66570222","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}
Pub Date : 2011-11-01DOI: 10.1016/J.PHYSC.2011.05.109
Zhenan Jiang, K. Thakur, N. Long, R. Badcock, M. Staines
{"title":"Comparison of transport AC losses in an eight-strand YBCO Roebel cable and a four-tape YBCO stack","authors":"Zhenan Jiang, K. Thakur, N. Long, R. Badcock, M. Staines","doi":"10.1016/J.PHYSC.2011.05.109","DOIUrl":"https://doi.org/10.1016/J.PHYSC.2011.05.109","url":null,"abstract":"","PeriodicalId":55596,"journal":{"name":"Cancer Genetics and Cytogenetics","volume":"25 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2011-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/J.PHYSC.2011.05.109","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"55346432","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}
Pub Date : 2010-12-01DOI: 10.1016/j.cancergencyto.2010.08.022
Youngil Koh , Dae-Young Kim , Sung-Hyo Park , Seung-Hyun Jung , Eunkyung Park , Hyeoung-Joon Kim , Sang Kyun Sohn , Young Don Joo , Seok Jin Kim , Ho-Jin Shin , Sung-Hyun Kim , Hong Suk Song , Jooseop Chung , Inho Kim , Sung-Soo Yoon , Byoung Kook Kim , Seung-Hun Shin , Yeun-Jun Chung , Seonyang Park
In a study population of 45 patients who were previously enrolled in an imatinib dose escalation trial, genome-wide screening for regions of genetic gains and losses was performed using array comparative genomic hybridization (aCGH). Early molecular response (EMR), defined as >50% reduction in the ratio of BCR-ABL1 to ABL1 within 6 months after dose escalation, was a major endpoint for analysis. After aCGH analysis, copy number change of four genes was investigated in 52 patients as a validation. Copy number gain in 16p11.2 was more frequently observed in patients with EMR than in patients who failed to achieve EMR (P = 0.034). A tendency for increased copy number in 22q11.23 in patients without EMR and for decreased copy number in 17q12 in patients with EMR was observed (P = 0.072 and P = 0.070, respectively). For GSTT1, in 22q11.23, copy number gain was observed in patients without EMR (P = 0.035). GSTT1 copy number gain was related to short time to treatment failure (TTFx) in patients without BCR–ABL1 mutations (P = 0.007). In multivariate analysis, GSTT1 copy number gain was an independent predictive factor for short TTFx (P = 0.020). We conclude that chromosome regions 16p11.2, 22q11.23, and 17q12 are potential locations related to response in imatinib dose escalation therapy for CML. GSTT1 copy number gain is a genetic change affecting outcome in this setting.
{"title":"GSTT1 copy number gain is a poor predictive marker for escalated-dose imatinib treatment in chronic myeloid leukemia: genetic predictive marker found using array comparative genomic hybridization","authors":"Youngil Koh , Dae-Young Kim , Sung-Hyo Park , Seung-Hyun Jung , Eunkyung Park , Hyeoung-Joon Kim , Sang Kyun Sohn , Young Don Joo , Seok Jin Kim , Ho-Jin Shin , Sung-Hyun Kim , Hong Suk Song , Jooseop Chung , Inho Kim , Sung-Soo Yoon , Byoung Kook Kim , Seung-Hun Shin , Yeun-Jun Chung , Seonyang Park","doi":"10.1016/j.cancergencyto.2010.08.022","DOIUrl":"10.1016/j.cancergencyto.2010.08.022","url":null,"abstract":"<div><p>In a study population of 45 patients who were previously enrolled in an imatinib dose escalation trial, genome-wide screening for regions of genetic gains and losses was performed using array comparative genomic hybridization (aCGH). Early molecular response (EMR), defined as >50% reduction in the ratio of <em>BCR-ABL1</em> to <em>ABL1</em> within 6 months after dose escalation, was a major endpoint for analysis. After aCGH analysis, copy number change of four genes was investigated in 52 patients as a validation. Copy number gain in 16p11.2 was more frequently observed in patients with EMR than in patients who failed to achieve EMR (<em>P</em> = 0.034). A tendency for increased copy number in 22q11.23 in patients without EMR and for decreased copy number in 17q12 in patients with EMR was observed (<em>P</em> = 0.072 and <em>P</em> = 0.070, respectively). For <em>GSTT1</em>, in 22q11.23, copy number gain was observed in patients without EMR (<em>P</em> = 0.035). <em>GSTT1</em> copy number gain was related to short time to treatment failure (TTFx) in patients without <em>BCR–ABL1</em> mutations (<em>P</em> = 0.007). In multivariate analysis, <em>GSTT1</em> copy number gain was an independent predictive factor for short TTFx (<em>P</em> = 0.020). We conclude that chromosome regions 16p11.2, 22q11.23, and 17q12 are potential locations related to response in imatinib dose escalation therapy for CML. <em>GSTT1</em> copy number gain is a genetic change affecting outcome in this setting.</p></div>","PeriodicalId":55596,"journal":{"name":"Cancer Genetics and Cytogenetics","volume":"203 2","pages":"Pages 215-221"},"PeriodicalIF":0.0,"publicationDate":"2010-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.cancergencyto.2010.08.022","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"29533577","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}
Pub Date : 2010-12-01DOI: 10.1016/j.cancergencyto.2010.09.011
Vesna Najfeld Ph.D.
{"title":"Letter to the Editor regarding the article “Chromosome abnormalities additional to the Philadelphia chromosome at the diagnosis of chronic myelogenous leukemia: pathogenic and prognostic implications”","authors":"Vesna Najfeld Ph.D.","doi":"10.1016/j.cancergencyto.2010.09.011","DOIUrl":"10.1016/j.cancergencyto.2010.09.011","url":null,"abstract":"","PeriodicalId":55596,"journal":{"name":"Cancer Genetics and Cytogenetics","volume":"203 2","pages":"Pages 355-356"},"PeriodicalIF":0.0,"publicationDate":"2010-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.cancergencyto.2010.09.011","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"29534510","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}
Pub Date : 2010-12-01DOI: 10.1016/j.cancergencyto.2010.07.129
Nathalie Douet-Guilbert , Audrey Basinko , Jean-Richard Eveillard , Frédéric Morel , Marie-Josée Le Bris , Nadia Guéganic , Clément Bovo , Angèle Herry , Christian Berthou , Marc De Braekeleer
We report the case of a 74-year-old man who sought care for de novo myelodysplastic syndrome (RAEB-1). Conventional cytogenetic techniques showed a karyotype with two different deletions of the long arm of chromosome 5 distributed in three clones: 46,XY,del(1)(p34),del(5)(q14q23)[2]/46,XY,del(1)(p34),del(5)(q14q34)[10]/46,idem,inv(5)(q?11q?34)[7]. Precise characterization of the breakpoints, delineation of the deleted regions, identification of the complex intrachromosomal rearrangement of chromosome 5, and sequential accumulation of chromosomal abnormalities were elucidated by several fluorescence in situ hybridization analyses. We also assessed the clinical, biological, and cytogenetic evolution under lenalidomide treatment and after its interruption.
{"title":"Three rearrangements of chromosome 5 in a patient with myelodysplastic syndrome: an atypical deletion 5q, a complex intrachromosomal rearrangement of chromosome 5, and a paracentric inversion of chromosome 5","authors":"Nathalie Douet-Guilbert , Audrey Basinko , Jean-Richard Eveillard , Frédéric Morel , Marie-Josée Le Bris , Nadia Guéganic , Clément Bovo , Angèle Herry , Christian Berthou , Marc De Braekeleer","doi":"10.1016/j.cancergencyto.2010.07.129","DOIUrl":"10.1016/j.cancergencyto.2010.07.129","url":null,"abstract":"<div><p>We report the case of a 74-year-old man who sought care for de novo myelodysplastic syndrome (RAEB-1). Conventional cytogenetic techniques showed a karyotype with two different deletions of the long arm of chromosome 5 distributed in three clones: 46,XY,del(1)(p34),del(5)(q14q23)[2]/46,XY,del(1)(p34),del(5)(q14q34)[10]/46,idem,inv(5)(q?11q?34)[7]. Precise characterization of the breakpoints, delineation of the deleted regions, identification of the complex intrachromosomal rearrangement of chromosome 5, and sequential accumulation of chromosomal abnormalities were elucidated by several fluorescence in situ hybridization analyses. We also assessed the clinical, biological, and cytogenetic evolution under lenalidomide treatment and after its interruption.</p></div>","PeriodicalId":55596,"journal":{"name":"Cancer Genetics and Cytogenetics","volume":"203 2","pages":"Pages 303-308"},"PeriodicalIF":0.0,"publicationDate":"2010-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.cancergencyto.2010.07.129","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"29534018","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}
Mucinous adenocarcinoma (MAC) is a rare malignancy in the minor salivary gland. To our knowledge, genomic alterations in this tumor have not been reported previously. To identify DNA copy number aberrations, we applied comparative genomic hybridization (CGH) to four samples of MAC in minor salivary gland derived from two patients: a primary tumor and two cervical metastatic lymph nodes from one patient, and a primary tumor from the other patient. Copy number increases were commonly detected in 1q21∼q31 and 20q13, and these may play an important role in MAC carcinogenesis. Copy number increases in 1q, 12p, 12q, and 20q were commonly detected in all three samples derived from patient 1, and gain of 7p and loss of chromosome 4 were additionally detected in the two samples derived from metastatic lymph nodes. Amplifications were also detected in the chromosomal regions 8q22∼qter, 12p11∼p12, 12q11∼q21, and 20q13. Amplification of MDM2 (12q15) and of AURKA (20q13) was detected with fluorescence in situ hybridization. The DNA copy number aberrations detected in MAC in minor salivary glands were different from those reported for colorectal MAC. The present findings are novel in identifying genomic alterations of MAC arising from the minor salivary gland.
{"title":"Screening for DNA copy number aberrations in mucinous adenocarcinoma arising from the minor salivary gland: two case reports","authors":"Kenichiro Uchida , Atsunori Oga , Takamitsu Mano , Hitoshi Nagatsuka , Yoshiya Ueyama , Kohsuke Sasaki","doi":"10.1016/j.cancergencyto.2010.08.027","DOIUrl":"10.1016/j.cancergencyto.2010.08.027","url":null,"abstract":"<div><p>Mucinous adenocarcinoma (MAC) is a rare malignancy in the minor salivary gland. To our knowledge, genomic alterations in this tumor have not been reported previously. To identify DNA copy number aberrations, we applied comparative genomic hybridization (CGH) to four samples of MAC in minor salivary gland derived from two patients: a primary tumor and two cervical metastatic lymph nodes from one patient, and a primary tumor from the other patient. Copy number increases were commonly detected in 1q21∼q31 and 20q13, and these may play an important role in MAC carcinogenesis. Copy number increases in 1q, 12p, 12q, and 20q were commonly detected in all three samples derived from patient 1, and gain of 7p and loss of chromosome 4 were additionally detected in the two samples derived from metastatic lymph nodes. Amplifications were also detected in the chromosomal regions 8q22∼qter, 12p11∼p12, 12q11∼q21, and 20q13. Amplification of <em>MDM2</em> (12q15) and of <em>AURKA</em> (20q13) was detected with fluorescence in situ hybridization. The DNA copy number aberrations detected in MAC in minor salivary glands were different from those reported for colorectal MAC. The present findings are novel in identifying genomic alterations of MAC arising from the minor salivary gland.</p></div>","PeriodicalId":55596,"journal":{"name":"Cancer Genetics and Cytogenetics","volume":"203 2","pages":"Pages 324-327"},"PeriodicalIF":0.0,"publicationDate":"2010-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.cancergencyto.2010.08.027","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"29534022","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}