Diagnostic Molecular Pathology最新文献_第6页

Confirmation of the spinal motor neuron gene 2 (SMN2) copy numbers by real-time PCR. 实时荧光定量PCR检测脊髓运动神经元基因2 (SMN2)拷贝数。

Diagnostic Molecular Pathology Pub Date : 2012-09-01 DOI: 10.1097/PDM.0b013e31824696b6

Maamouri-Hicheri Wieme, Hammer Monia Ben, Bouhlal Yosr, Souilem Sihem, Toumi Nawel, Manai-Azizi Ines, Bennour Wajdi, Khmiri Najla, Nahdi Houda, Hentati Faycal, Amouri Rim

引用次数: 1

Concomitant BCR-ABL1 translocation and JAK2(V617F) mutation in three patients with myeloproliferative neoplasms. 3例骨髓增殖性肿瘤患者的BCR-ABL1易位和JAK2(V617F)突变

Diagnostic Molecular Pathology Pub Date : 2012-09-01 DOI: 10.1097/PDM.0b013e318246975e

Jennifer M Hummel, M Carmen Frias Kletecka, Jennifer K Sanks, Mihaela D Chiselite, Diane Roulston, Lauren B Smith, David R Czuchlewski, Kojo S J Elenitoba-Johnson, Megan S Lim

{"title":"Concomitant BCR-ABL1 translocation and JAK2(V617F) mutation in three patients with myeloproliferative neoplasms.","authors":"Jennifer M Hummel, M Carmen Frias Kletecka, Jennifer K Sanks, Mihaela D Chiselite, Diane Roulston, Lauren B Smith, David R Czuchlewski, Kojo S J Elenitoba-Johnson, Megan S Lim","doi":"10.1097/PDM.0b013e318246975e","DOIUrl":"https://doi.org/10.1097/PDM.0b013e318246975e","url":null,"abstract":"Chronic myeloproliferative neoplasms (MPN) are clonal disorders of hematopoietic stem cells, which fall into distinct categories based on a number of characteristics including the presence of the BCR-ABL1 gene fusion (chronic myelogenous leukemia) or the JAK2(V617F) mutation (polycythemia vera, primary myelofibrosis, and essential thrombocythemia). One of the criteria in the 2008 World Health Organization Classification divides MPN into different categories based on the presence of an underlying genetic abnormality, however the WHO does not currently address the classification of myeloproliferative neoplasms that have more than one genetic abnormality. The coexistence of a JAK2(V617F) mutation and BCR-ABL1 is rare, and to our knowledge, less than 25 cases have been reported in the literature. Our case series examines the clinical, histopathologic, and genetic features of 3 patients with myeloproliferative neoplasms characterized by concomitant BCR-ABL1 and JAK2(V617F). The implications for diagnosis and treatment of patients with concomitant BCR-ABL1 and JAK2(V617F) are discussed as well as how the BCR-ABL1 and JAK2(V617F)-positive clones may be related to one another.","PeriodicalId":11235,"journal":{"name":"Diagnostic Molecular Pathology","volume":"21 3","pages":"176-83"},"PeriodicalIF":0.0,"publicationDate":"2012-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/PDM.0b013e318246975e","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30799387","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: 21

Molecular diagnosis for a fatal case of very long-chain acyl-CoA dehydrogenase deficiency in Hong Kong Chinese with a novel mutation: a preventable death by newborn screening. 香港华人极长链酰基辅酶a脱氢酶缺乏症1例新突变的分子诊断:新生儿筛查可预防死亡

Diagnostic Molecular Pathology Pub Date : 2012-09-01 DOI: 10.1097/PDM.0b013e31825554d0

Wai-Kwan Siu, Chloe Miu Mak, Sylvia Luen-Yee Siu, Tak-Shing Siu, Chun-Yin Pang, Ching-Wan Lam, Ngan-Shan Kwong, Albert Yan-Wo Chan

{"title":"Molecular diagnosis for a fatal case of very long-chain acyl-CoA dehydrogenase deficiency in Hong Kong Chinese with a novel mutation: a preventable death by newborn screening.","authors":"Wai-Kwan Siu, Chloe Miu Mak, Sylvia Luen-Yee Siu, Tak-Shing Siu, Chun-Yin Pang, Ching-Wan Lam, Ngan-Shan Kwong, Albert Yan-Wo Chan","doi":"10.1097/PDM.0b013e31825554d0","DOIUrl":"https://doi.org/10.1097/PDM.0b013e31825554d0","url":null,"abstract":"Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is one of the most common fatty acid oxidation defects that cause sudden unexpected deaths in infants. The death attributed to VLCAD deficiency can be prevented by early diagnosis with expanded newborn screening using tandem mass spectrometry. A favorable outcome can be achieved with early diagnosis and prompt treatment. However, such newborn screening has not yet been available in Hong Kong. We report a 2-month-old boy who succumbed 5 hours after admission with the diagnosis of VLCAD deficiency confirmed by genetic analysis performed after death. The patient was compound heterozygous for a novel splicing mutation ACADVL NM_000018.2:c.277+2T>G; NC_000017.10:g.7123997T>G and a known disease-causing mutation ACADVL NM_000018.2:c.388_390del; NP_000009.1: p.Glu130del. Family screening was performed for at-risk siblings. The rapid downhill course of the patient clearly illustrates the need of newborn screening for early diagnosis. Our patient was asymptomatic before metabolic decompensation. However, once metabolic decompensation occurred, rapid deterioration and death followed, which obviated the opportunity to diagnose and treat. The only way to save these patients' lives and improve their outcome is early diagnosis and appropriate treatment. Therefore, we strongly urge the implementation of newborn screening using tandem mass spectrometry for VLCAD deficiency and other highly treatable inborn errors of metabolism in Hong Kong.","PeriodicalId":11235,"journal":{"name":"Diagnostic Molecular Pathology","volume":"21 3","pages":"184-7"},"PeriodicalIF":0.0,"publicationDate":"2012-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/PDM.0b013e31825554d0","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30799388","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: 8

Detection of EGFR mutation in tissue samples of non-small-cell lung cancer by a fluorescence polarization assay. 荧光偏振法检测非小细胞肺癌组织样本中EGFR突变。

Diagnostic Molecular Pathology Pub Date : 2012-09-01 DOI: 10.1097/PDM.0b013e31825131ed

Wenchao Liu, Xiaofei Li, Zhipei Zhang, Yanan Chen, Shaoying Qiang, Hong Cheng, Li Fan, Ping Liang, Ju Zhang

{"title":"Detection of EGFR mutation in tissue samples of non-small-cell lung cancer by a fluorescence polarization assay.","authors":"Wenchao Liu, Xiaofei Li, Zhipei Zhang, Yanan Chen, Shaoying Qiang, Hong Cheng, Li Fan, Ping Liang, Ju Zhang","doi":"10.1097/PDM.0b013e31825131ed","DOIUrl":"https://doi.org/10.1097/PDM.0b013e31825131ed","url":null,"abstract":"It is important to identify epidermal growth factor receptor (EGFR) mutations, which have a good value for the individualized management of patients with non-small-cell lung cancer. A novel method for detecting the mutations on exons 19, 21 of EGFR in primary carcinoma samples by a fluorescence polarization (FP) assay was developed in this research. Firstly, 2 pairs of general primers of exons 19, 21 of EGFR were, respectively, used to amplify the target regions in each exon in 2 reactions. Then, 2 probes specific for wild or mutation exons 19, 21 of EGFR were labeled with tetramethyl 6-carboxyrhodamine or 6-carboxyfluorescein hybridized, respectively, with their target amplicons, and the hybridization resulted in an increase in the FP values. Exon 19 deletion and exon 21 missense mutation were determined by the analysis of the FP values. EGFR mutations in 372 non-small-cell lung cancer samples were analyzed in parallel with an FP assay and a sequencing assay. There was no significant difference between the mutation status results obtained with the FP assay and the results obtained with the sequencing assay. The minimum detection level established with this assay was 40 copies/uL. Reliable results could be obtained when more than 30 ng of DNA was tested by a FP assay. An FP assay was able to detect the mutation DNA of EGFR even when its content was as low as 10%. An FP assay allowed the semiautomated detection of EGFR mutations in solution, and it was much simpler and cost effective than the traditional methods.","PeriodicalId":11235,"journal":{"name":"Diagnostic Molecular Pathology","volume":"21 3","pages":"138-42"},"PeriodicalIF":0.0,"publicationDate":"2012-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/PDM.0b013e31825131ed","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30799381","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: 4

Potential association between ANXA4 polymorphisms and aspirin-exacerbated respiratory disease. ANXA4多态性与阿司匹林加重呼吸系统疾病之间的潜在关联

Diagnostic Molecular Pathology Pub Date : 2012-09-01 DOI: 10.1097/PDM.0b013e3182461d0d

Tae-Joon Park, Jeong-Hyun Kim, Joon Seol Bae, Byung-Lae Park, Hyun Sub Cheong, Charisse Flerida Pasaje, Jong-Sook Park, Soo-Taek Uh, Mi-Kyeong Kim, Inseon S Choi, Choon-Sik Park, Hyoung Doo Shin

{"title":"Potential association between ANXA4 polymorphisms and aspirin-exacerbated respiratory disease.","authors":"Tae-Joon Park, Jeong-Hyun Kim, Joon Seol Bae, Byung-Lae Park, Hyun Sub Cheong, Charisse Flerida Pasaje, Jong-Sook Park, Soo-Taek Uh, Mi-Kyeong Kim, Inseon S Choi, Choon-Sik Park, Hyoung Doo Shin","doi":"10.1097/PDM.0b013e3182461d0d","DOIUrl":"https://doi.org/10.1097/PDM.0b013e3182461d0d","url":null,"abstract":"Aspirin-exacerbated respiratory disease (AERD) is a clinical syndrome characterized by bronchoconstriction after ingestion of nonsteroidal anti-inflammatory drugs including aspirin. The Ca concentration in bronchial epithelial cells is an important factor for bronchoconstriction. Human annexin A4 (ANXA4) is predominantly expressed in the secretory epithelia in the lung, stomach, intestine, and kidney. Furthermore, translocation and induction of ANXA4 have been observed in human Ca-depleted neutrophils. To investigate the association between annexin A4 polymorphisms and the risk of AERD, we have genotyped 21 variants from 102 AERD subjects and 429 aspirin-tolerant asthma (ATA) controls. Logistic analyses controlling for sex, smoking status, and atopy as covariates were performed to estimate the association between the annexin A4 polymorphisms and AERD. Among these variants, 8 polymorphisms (rs2168116, rs4853017, rs6546547, rs13428251, rs7577864, rs7559354, rs7588022, and rs3816491) and 2 haplotypes (ANXA4-ht3 and ANXA4-ht5) were significantly associated with the risk of AERD. One common polymorphism in intron 11, rs3816491, showed the strongest association signal with susceptibility to aspirin-AERD even after multiple testing corrections (OR=0.57; 95% confidence interval 0.40-0.83; P=0.003; P=0.045 in the codominant model). Although further functional evaluations of replication studies in larger cohorts are required, our findings suggest that the annexin A4 could have susceptibility for AERD.","PeriodicalId":11235,"journal":{"name":"Diagnostic Molecular Pathology","volume":"21 3","pages":"164-71"},"PeriodicalIF":0.0,"publicationDate":"2012-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/PDM.0b013e3182461d0d","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30799385","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: 4

A five-marker panel in a multiplex PCR accurately detects microsatellite instability-high colorectal tumors without control DNA. 多重PCR中的五标记面板可准确检测无对照DNA的微卫星不稳定性高的结直肠肿瘤。

Diagnostic Molecular Pathology Pub Date : 2012-09-01 DOI: 10.1097/PDM.0b013e3182461cc3

Deepa T Patil, Mary P Bronner, Bryce P Portier, Cory R Fraser, Thomas P Plesec, Xiuli Liu

{"title":"A five-marker panel in a multiplex PCR accurately detects microsatellite instability-high colorectal tumors without control DNA.","authors":"Deepa T Patil, Mary P Bronner, Bryce P Portier, Cory R Fraser, Thomas P Plesec, Xiuli Liu","doi":"10.1097/PDM.0b013e3182461cc3","DOIUrl":"https://doi.org/10.1097/PDM.0b013e3182461cc3","url":null,"abstract":"Microsatellite instability (MSI) testing is used to screen for Lynch syndrome. The current technique for MSI determination requires DNA from normal and neoplastic tissue and is expensive and laborious. Five quasi-monomorphic markers (NR-21, BAT-25, MONO-27, NR-24, and BAT-26) are included in the Promega MSI analysis kit. With the working hypothesis that this 5-marker panel can accurately determine the MSI status of colorectal tumors without using paired control DNA, we evaluated 478 colorectal tumors and divided them into a test group (N=172, colorectal adenocarcinomas) and a validation group (N=306 including 179 colorectal adenocarcinomas and 127 adenomas). The quasi-monomorphic variation range of each marker was generated from the test group (172 normal samples) and used as a reference value in the subsequent interpretation of MSI status in the test and validation groups. Considering the MSI result using a 5-marker panel with paired control DNA as the gold standard, we identified 136 microsatellite stable (MSS) and 36 microsatellite instability-high (MSI-H) colorectal tumors in the test group and 259 MSS and 47 MSI-H colorectal tumors in the validation group. Using the quasi-monomorphic variation range of each marker rather than paired normal DNA, the 5-marker panel identified all MSI-H colorectal tumors in the test and validation groups, when MSI-H was defined as ≥2 unstable markers. Our study demonstrates that the 5-marker panel within a multiplex polymerase chain reaction of the Promega MSI analysis kit accurately identifies all MSI-H and 95.2% MSS colorectal tumors without using paired normal DNA.","PeriodicalId":11235,"journal":{"name":"Diagnostic Molecular Pathology","volume":"21 3","pages":"127-33"},"PeriodicalIF":0.0,"publicationDate":"2012-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/PDM.0b013e3182461cc3","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30800427","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: 47

Detection of human papillomavirus in anal specimens using the hybrid capture 2 assay. 用杂交捕获2法检测肛门标本中人乳头瘤病毒。

Diagnostic Molecular Pathology Pub Date : 2012-09-01 DOI: 10.1097/PDM.0b013e318249fd6b

Brian Lowe, Stephen E Goldstone, Szymon Rus, Hiam Salim, Guorong Chen, Thomas Rothmann, Irina Nazarenko

{"title":"Detection of human papillomavirus in anal specimens using the hybrid capture 2 assay.","authors":"Brian Lowe, Stephen E Goldstone, Szymon Rus, Hiam Salim, Guorong Chen, Thomas Rothmann, Irina Nazarenko","doi":"10.1097/PDM.0b013e318249fd6b","DOIUrl":"https://doi.org/10.1097/PDM.0b013e318249fd6b","url":null,"abstract":"The hc2 human papillomavirus DNA test (HC2) is effective when screening women for cervical dysplasia, and it might be effective in the screening for anal dysplasia. Differences between the anal and the cervical canals could affect the test performance. This prospective study (n=292) measured the HC2 signal and in agreement with a histologic endpoint of high-grade dysplasia for anal specimens collected in various ways. Sensitivities were 91%, 85%, and 62% for specimens collected in a sample transport medium and a liquid-based cytology medium processed by Gyn or Non-Gyn protocol, respectively. HC2 sensitivity and specificity to predict high-grade anal dysplasia were similar for brush or swab specimen collections, but HC2 signal was 6 times higher with the brush. Specificity and sensitivity were similar whether the sample was collected first or after a cytology sample for brush or swab, but swab specimens at the second collection had an HC2 signal (mean) 48% lower than that of the first collection, and the swab cellularity was lower. The presence of maximum stool decreased the HC2 signal in anal swab specimens. Consensus polymerase chain reaction (PCR) confirmed that the 13 human papillomavirus probe types in HC2 were optimal for performance. HC2 could potentially be further investigated for use in screening anal dysplasia. A larger prospective study is indicated.","PeriodicalId":11235,"journal":{"name":"Diagnostic Molecular Pathology","volume":"21 3","pages":"150-6"},"PeriodicalIF":0.0,"publicationDate":"2012-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/PDM.0b013e318249fd6b","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30799383","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: 13

CIP2A is highly expressed in hepatocellular carcinoma and predicts poor prognosis. CIP2A在肝细胞癌中高表达，预示预后不良。

Diagnostic Molecular Pathology Pub Date : 2012-09-01 DOI: 10.1097/PDM.0b013e318249fd8b

Hui He, Gang Wu, Weijie Li, Yuecheng Cao, Yongfeng Liu

{"title":"CIP2A is highly expressed in hepatocellular carcinoma and predicts poor prognosis.","authors":"Hui He, Gang Wu, Weijie Li, Yuecheng Cao, Yongfeng Liu","doi":"10.1097/PDM.0b013e318249fd8b","DOIUrl":"https://doi.org/10.1097/PDM.0b013e318249fd8b","url":null,"abstract":"Background: Cancerous inhibitor of protein phosphatase 2A (CIP2A) is highly expressed in hepatocellular carcinoma (HCC) and promotes cell proliferation, cell invasion, and aggressive tumor behavior. However, there have been few studies on the usefulness of CIP2A as an independent prognostic index of HCC. In the current study, the aim was to explore the association between CIP2A expression and prognosis in HCC.Methods: The expression of CIP2A and c-MYC was examined by immunohistochemistry in 136 HCC specimens. CIP2A mRNA expression in 27 HCC tissues was also analyzed using quantitative reverse-transcription polymerase chain reaction. The prognostic significance was analyzed by the Kaplan-Meier survival method and log-rank test. Cox regression was adopted for univariate and multivariate analysis of prognostic factors.Results: CIP2A protein was found to be highly expressed in human liver cancer samples (85/136, 62.5%) and correlated with poor survival (P<0.05). The liver cancer tissues examined exhibited much higher levels of CIP2A mRNA compared with their corresponding normal tissues (19/27, 70.3%). Furthermore, CIP2A mRNA levels were correlated with c-MYC mRNA levels. In addition, the highly expressed CIP2A was associated with recurrence (P=0.014) and invasion (P=0.017) of HCC. Patients with high CIP2A expression had both poorer overall survival (OS) and disease-free survival (DFS). On multivariate analysis, the CIP2A status was a significant prognostic factor for OS and DFS (P=0.017, P=0.026, respectively).Conclusions: CIP2A overexpression may be useful as an independent prognostic biomarker for OS and DFS of HCC.","PeriodicalId":11235,"journal":{"name":"Diagnostic Molecular Pathology","volume":"21 3","pages":"143-9"},"PeriodicalIF":0.0,"publicationDate":"2012-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/PDM.0b013e318249fd8b","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30799382","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: 47

Impact of thawing on reference gene expression stability in renal cell carcinoma samples. 解冻对肾癌样本内参基因表达稳定性的影响。

Diagnostic Molecular Pathology Pub Date : 2012-09-01 DOI: 10.1097/PDM.0b013e31824d3435

Yi Ma, HuiLi Dai, XianMing Kong, LiMin Wang

{"title":"Impact of thawing on reference gene expression stability in renal cell carcinoma samples.","authors":"Yi Ma, HuiLi Dai, XianMing Kong, LiMin Wang","doi":"10.1097/PDM.0b013e31824d3435","DOIUrl":"https://doi.org/10.1097/PDM.0b013e31824d3435","url":null,"abstract":"More and more samples are obtained from biobanks for biomedical research; however, some of these samples may undergo thawing before processing. We aim to evaluate the reference gene expression stability in thawed renal cell carcinoma samples. Sixteen matched malignant and nonmalignant renal tissue samples were obtained and each sample was divided into 4 aliquots before being snap frozen and stored at -80°C. By quantitative real-time polymerase chain reaction, a time-course study was conducted on the thawed tissue to evaluate the expression stability of a panel of the 10 most frequently used reference genes in renal cell carcinom samples: ACTB, ALAS1, B2M, GAPDH, HMBS, HPRT, PPIA, RPLP0,TBP, and TUBB. As shown by geNorm M values, PPIA was the most stable gene at the 0-, 15-, and 30-minute time points (M=0.82, 0.85, and 0.76, respectively), whereas GAPDH was ranked last at the 5-, 15-, and 30-minute time points (M=1.38, 1.44, and 1.39, respectively). A positive correlation was found by linear regression between the thawing time and 2 to the power of crossing point values of all candidate reference genes (P<0.05). The mean coefficient of variance of all reference genes increased significantly at time points 5, 15, and 30 minutes compared with 0 minutes (P<0.01). In conclusion, using the geNorm algorithm, PPIA was identified as the most stably expressed gene between malignant and nonmalignant renal tissue samples that were thawed for similar time periods. All the reference genes showed high variations along with the thawing time; it should be recommended to use a combination of several candidate reference genes when comparing samples thawed for different time periods.","PeriodicalId":11235,"journal":{"name":"Diagnostic Molecular Pathology","volume":"21 3","pages":"157-63"},"PeriodicalIF":0.0,"publicationDate":"2012-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/PDM.0b013e31824d3435","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30799384","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: 17

11q21 rearrangement is a frequent and highly specific genetic alteration in mucoepidermoid carcinoma. 11q21重排是黏液表皮样癌中一种常见且高度特异性的基因改变。

Diagnostic Molecular Pathology Pub Date : 2012-09-01 DOI: 10.1097/PDM.0b013e318255552c

Till Sebastian Clauditz, Artur Gontarewicz, Chia-Jung Wang, Adrian Münscher, Simon Laban, Maria Christina Tsourlakis, Rainald Knecht, Guido Sauter, Waldemar Wilczak

{"title":"11q21 rearrangement is a frequent and highly specific genetic alteration in mucoepidermoid carcinoma.","authors":"Till Sebastian Clauditz, Artur Gontarewicz, Chia-Jung Wang, Adrian Münscher, Simon Laban, Maria Christina Tsourlakis, Rainald Knecht, Guido Sauter, Waldemar Wilczak","doi":"10.1097/PDM.0b013e318255552c","DOIUrl":"https://doi.org/10.1097/PDM.0b013e318255552c","url":null,"abstract":"Mucoepidermoid carcinoma (MEC) is the most common malignant salivary gland tumor. Translocation t(11;19)(q21;p13) involving the MECT1 and MAML2 genes has been suggested as a diagnostic marker in these tumors. To determine the specificity of 11q21 locus rearrangements for MEC, fluorescence in situ hybridization analysis with specific MEC-I Dual Color Break Apart Probe was performed on a tissue microarray containing samples from almost 1200 salivary gland adenomas and carcinomas. Rearrangements of 11q21 were observed in 40% of 217 MECs. The frequency of rearrangements decreased with tumor grade and was found in 53% of G1, 43% of G2, and 31% of G3 tumors (P=0.015). There were no 11q21 rearrangements found in other salivary gland carcinomas including 142 adenoid cystic carcinomas, 104 acinic cell adenocarcinomas, 76 adenocarcinoma not otherwise specified, 38 epithelial-myoepithelial carcinomas, 15 polymorphous low-grade adenocarcinomas, 18 basal cell adenocarcinomas, 19 myoepithelial carcinomas, 12 papillary cystadenocarcinomas, 6 salivary duct carcinomas, and 10 oncocytic carcinomas. Furthermore, all analyzed salivary gland adenomas, including 39 cases of Warthin tumor and control samples, either from the salivary gland or from other organs were negative for 11q21 rearrangements. It is concluded that MECT1-MAML2 gene fusion is a highly specific genetic alteration in MEC with predominance in low-grade and intermediate-grade tumors.","PeriodicalId":11235,"journal":{"name":"Diagnostic Molecular Pathology","volume":"21 3","pages":"134-7"},"PeriodicalIF":0.0,"publicationDate":"2012-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/PDM.0b013e318255552c","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30800428","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: 41