Diagnostic Molecular Pathology最新文献_第8页

Comparison of a PNA clamp PCR and an ARMS/Scorpion PCR assay for the detection of K-ras mutations. PNA钳形PCR与ARMS/Scorpion PCR检测K-ras突变的比较。

Diagnostic Molecular Pathology Pub Date : 2012-03-01 DOI: 10.1097/PDM.0b013e31821e59dc

Oddmund Nordgård, Satu Oltedal, Emiel A M Janssen, Bjørnar Gilje, Hartwig Kørner, Kjersti Tjensvoll, Rune Smaaland

{"title":"Comparison of a PNA clamp PCR and an ARMS/Scorpion PCR assay for the detection of K-ras mutations.","authors":"Oddmund Nordgård, Satu Oltedal, Emiel A M Janssen, Bjørnar Gilje, Hartwig Kørner, Kjersti Tjensvoll, Rune Smaaland","doi":"10.1097/PDM.0b013e31821e59dc","DOIUrl":"https://doi.org/10.1097/PDM.0b013e31821e59dc","url":null,"abstract":"Point mutations in the K-ras gene have been shown to confer resistance against epidermal growth factor receptor-directed therapy of metastatic colorectal cancer. Accordingly, K-ras mutation testing has become mandatory in hospitals offering such treatment. We compared the performance and reagent costs of 2 sensitive methods for detection of K-ras mutations: a peptide nucleic acid (PNA) clamp polymerase chain reaction (PCR) assay and a commercially available amplification refractory mutation system/Scorpion (ARMS/S) PCR assay. Both methods were applied in parallel to 101 formalin-fixed, paraffin-embedded tumor and metastasis samples from patients with colon cancer. The PNA clamp PCR assay detected K-ras mutations in 35% (35 of 101) of the samples, whereas the ARMS/S PCR assay detected mutations in 27% (27 of 101) of them. There was 92% (93 of 101) concordance between the 2 methods and the κ coefficient for the comparison was 0.82. The 8 discordant cases were exclusively positive by PNA clamp PCR. Finally, the reagent costs of the PNA clamp PCR assay were estimated to be at least 20 times lower than the ARMS/S assay. We concluded that the high performance and low costs associated with the PNA clamp PCR assay encourage its use in the administration of personalized epidermal growth factor receptor-directed therapy.","PeriodicalId":11235,"journal":{"name":"Diagnostic Molecular Pathology","volume":"21 1","pages":"9-13"},"PeriodicalIF":0.0,"publicationDate":"2012-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/PDM.0b013e31821e59dc","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30438586","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

Rapid quantitative detection of the T315I mutation in patients with chronic myelogenous leukemia. 慢性骨髓性白血病患者T315I突变的快速定量检测。

Diagnostic Molecular Pathology Pub Date : 2012-03-01 DOI: 10.1097/PDM.0b013e31823465fd

Lihui Yin, David Dittman, Anjen Chenn

{"title":"Rapid quantitative detection of the T315I mutation in patients with chronic myelogenous leukemia.","authors":"Lihui Yin, David Dittman, Anjen Chenn","doi":"10.1097/PDM.0b013e31823465fd","DOIUrl":"https://doi.org/10.1097/PDM.0b013e31823465fd","url":null,"abstract":"Acquired resistance to tyrosine kinase inhibitors (TKIs) in the treatment of chronic myelogenous leukemia (CML) is frequently caused by point mutations in the ABL kinase domain of the BCR-ABL fusion gene. The T315I mutation is the most common mutation found in the kinase domain and leads to complete resistance to existing TKIs. Sensitive and specific approaches for detecting this mutation in patient specimens can provide valuable information to guide treatment decisions and monitor their effectiveness. Here, we describe an allele-specific real-time polymerase chain reaction method to distinguish and quantify wild type or T315I mutant ABL transcripts. This approach has high specificity in identifying mutant transcripts and shows minimal interference from wild-type transcripts. As few as 5 copies of the T315I mutant transcript or 0.025% (2.5×10(-4)) T315I mutant transcripts could be detected by this method. This approach requires no additional specialized reagents other than those used in standard real-time polymerase chain reaction and therefore may be easily incorporated as an effective strategy for the early detection and monitoring of TKI resistance in patients with CML.","PeriodicalId":11235,"journal":{"name":"Diagnostic Molecular Pathology","volume":"21 1","pages":"34-9"},"PeriodicalIF":0.0,"publicationDate":"2012-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/PDM.0b013e31823465fd","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30438589","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: 0

Analysis of cDNA molecules is not suitable for the molecular diagnosis of Mucopolysaccharidosis type I. cDNA分子分析不适合ⅰ型粘多糖病的分子诊断。

Diagnostic Molecular Pathology Pub Date : 2012-03-01 DOI: 10.1097/PDM.0b013e318230f021

Andresa Cardoso Grandini Almeida, Gabriela Pasqualim, Fabiana Q Mayer, Ida Vanessa Doderlein Schwartz, Carolina F Souza, Roberto Giugliani, Ursula Matte

引用次数: 3

KRAS mutation testing in colorectal cancer: comparison of the results obtained using 3 different methods for the analysis of codons G12 and G13. 结直肠癌KRAS突变检测:3种不同方法分析密码子G12、G13的结果比较

Diagnostic Molecular Pathology Pub Date : 2012-03-01 DOI: 10.1097/PDM.0b013e31822b831a

Michel P Bihl, Sylvia Hoeller, Maria Carla Andreozzi, Anja Foerster, Alexander Rufle, Luigi Tornillo, Luigi Terracciano

{"title":"KRAS mutation testing in colorectal cancer: comparison of the results obtained using 3 different methods for the analysis of codons G12 and G13.","authors":"Michel P Bihl, Sylvia Hoeller, Maria Carla Andreozzi, Anja Foerster, Alexander Rufle, Luigi Tornillo, Luigi Terracciano","doi":"10.1097/PDM.0b013e31822b831a","DOIUrl":"https://doi.org/10.1097/PDM.0b013e31822b831a","url":null,"abstract":"Targeting the epidermal growth factor receptor (EGFR) is a new therapeutic option for patients with metastatic colorectal or lung carcinoma. However, the therapy efficiency highly depends on the KRAS mutation status in the given tumour. Therefore a reliable and secure KRAS mutation testing is crucial. Here we investigated 100 colorectal carcinoma samples with known KRAS mutation status (62 mutated cases and 38 wild type cases) in a comparative manner with three different KRAS mutation testing techniques (Pyrosequencing, Dideoxysequencing and INFINITI) in order to test their reliability and sensitivity. For the large majority of samples (96/100, 96%), the KRAS mutation status obtained by all three methods was the same. Only two cases with clear discrepancies were observed. One case was reported as wild type by the INFINITI method while the two other methods detected a G13C mutation. In the second case the mutation could be detected by the Pyrosequencing and INFINITI method (15% and 15%), while no signal for mutation could be observed with the Dideoxysequencing method. Additional two unclear results were due to a detection of a G12V with the INFINITI method, which was below cut-off when repeated and which was not detectable by the other two methods and very weak signals in a G12V mutated case with the Dideoxy- and Pyroseqencing method compared to the INFINITI method, respectively. In summary all three methods are reliable and robust methods in detecting KRAS mutations. INFINITI, however seems to be slightly more sensitive compared to Dideoxy- and Pyrosequencing.","PeriodicalId":11235,"journal":{"name":"Diagnostic Molecular Pathology","volume":"21 1","pages":"14-23"},"PeriodicalIF":0.0,"publicationDate":"2012-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/PDM.0b013e31822b831a","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30438587","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: 16

Comparison of 2 different PCR-based technologies for the detection of human papilloma virus from paraffin-embedded tissue: genómica clinical arrays versus SPF(10)-LiPA(25). 两种不同pcr技术在石蜡包埋组织中检测人乳头瘤病毒的比较:genómica临床阵列与SPF(10)-LiPA(25)。

Diagnostic Molecular Pathology Pub Date : 2012-03-01 DOI: 10.1097/PDM.0b013e318229a923

Cristina Pérez, Jo Ellen Klaustermeier, Laia Alemany, Sara Tous, Silvia de Sanjosé, Julio Velasco

{"title":"Comparison of 2 different PCR-based technologies for the detection of human papilloma virus from paraffin-embedded tissue: genómica clinical arrays versus SPF(10)-LiPA(25).","authors":"Cristina Pérez, Jo Ellen Klaustermeier, Laia Alemany, Sara Tous, Silvia de Sanjosé, Julio Velasco","doi":"10.1097/PDM.0b013e318229a923","DOIUrl":"https://doi.org/10.1097/PDM.0b013e318229a923","url":null,"abstract":"The great interest in molecular epidemiology of human papilloma virus (HPV) in cervical cancer led us to perform a thorough evaluation of 2 polymerase chain reaction (PCR)-based methods for the detection of HPV in archival formalin-fixed paraffin-embedded (FFPE) samples. Thus, the aim of this study was to compare HPV detection in FFPE samples that have histopathologic diagnosis of invasive cervical cancer using SPF10 broad-spectrum primers PCR followed by DNA enzyme immunoassay and LiPA25 (version 1: Labo Biomedical products, Rijswijk, The Netherlands version 1) and the Papillomavirus Clinical Arrays technique (Genómica, Tres Cantos, Madrid, Spain). In this study, 235 biopsies with histopathologic diagnosis of invasive cervical cancer were analyzed for the detection and genotyping of HPV by LiPA25 SPF10-PCR System (version 1) and Papillomavirus Clinical Arrays technique. The detection of HPV DNA with Genómica technique was 75.1%, and 91.9% with LiPA25 SPF10-PCR. The Genómica technique detected a higher percentage of multiple infections (35%) than LiPA25 (8.9%), with a very low agreement for the detection of multiple infections between them (P>0.05). Our study highlights an important difference between 2 PCR-based methods for detection and genotyping of HPV. LiPA25 SPF10-PCR technology may be more adequate than Genómica for the detection of HPV DNA when using FFPE tissue.","PeriodicalId":11235,"journal":{"name":"Diagnostic Molecular Pathology","volume":"21 1","pages":"45-52"},"PeriodicalIF":0.0,"publicationDate":"2012-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/PDM.0b013e318229a923","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30438591","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: 11

Personalized medicine switching from insulin to sulfonylurea in permanent neonatal diabetes mellitus dictated by a novel activating ABCC8 mutation. 由一种新的激活ABCC8突变决定的永久性新生儿糖尿病的个性化药物从胰岛素转向磺脲类药物。

Diagnostic Molecular Pathology Pub Date : 2012-03-01 DOI: 10.1097/PDM.0b013e318220bb0e

Chloe Miu Mak, Ching-yin Lee, Ching-wan Lam, Wai-Kwan Siu, Vanessa Ching-ngar Hung, Albert Yan-wo Chan

{"title":"Personalized medicine switching from insulin to sulfonylurea in permanent neonatal diabetes mellitus dictated by a novel activating ABCC8 mutation.","authors":"Chloe Miu Mak, Ching-yin Lee, Ching-wan Lam, Wai-Kwan Siu, Vanessa Ching-ngar Hung, Albert Yan-wo Chan","doi":"10.1097/PDM.0b013e318220bb0e","DOIUrl":"https://doi.org/10.1097/PDM.0b013e318220bb0e","url":null,"abstract":"Background: Neonatal diabetes mellitus (NDM) is a rare but important condition affecting approximately 1 in 100,000 newborns. Permanent form requires life-long treatment with difficulties in long-term compliance and metabolic complications. Exact genetic diagnosis can enable improved outcome and patient satisfaction by switching insulin injection to oral sulfonylureas. Successful cases have been reported with most experience on the KCNJ11-mutated permanent form. Here we report a successful experience in an ABCC8-mutated infant with permanent NDM.Patient and methods: A 4-month-old Chinese girl was incidentally found to have hyperglycemia with baseline C-peptide of 0.05 nmol/L requiring insulin injection of 0.2 IU/kg/d. Genetic analysis of KCNJ11 and ABCC8 was performed by polymerase chain reaction and direct DNA sequencing at the age of 3 years. Sulfonylurea transition was conducted after the ABCC8 mutation detection.Results: A novel homozygous ABCC8 NM_000352.3: c.3068 A>G; NP_000343.2: p.H1023R mutation was detected. C-peptide level increased to 0.14 nmol/L and HbA1c was normalized to 5.8% from 8.0% after 8 months of oral glibenclamide treatment with a maintenance dosage of 0.65 mg/kg/d.Conclusions: In this patient with ABCC8-mutated permanent NDM, oral sulfonylurea is also effective in achieving satisfactory diabetic control. Our study adds information to the personalized medicine practice of ABCC8-mutated permanent NDM.","PeriodicalId":11235,"journal":{"name":"Diagnostic Molecular Pathology","volume":"21 1","pages":"56-9"},"PeriodicalIF":0.0,"publicationDate":"2012-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/PDM.0b013e318220bb0e","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30437091","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: 7

Diagnostic utility of a multiplex RT-PCR assay in detecting fusion transcripts from recurrent genetic abnormalities of acute leukemia by WHO 2008 classification. 多重RT-PCR检测急性白血病复发性遗传异常融合转录物的诊断应用

Diagnostic Molecular Pathology Pub Date : 2012-03-01 DOI: 10.1097/PDM.0b013e3182319ebe

Min-Jung Song, Hee-Jin Kim, Chang-Hun Park, Sun-Kyung Kim, Chang-Seok Ki, Jong-Won Kim, Sun-Hee Kim

{"title":"Diagnostic utility of a multiplex RT-PCR assay in detecting fusion transcripts from recurrent genetic abnormalities of acute leukemia by WHO 2008 classification.","authors":"Min-Jung Song, Hee-Jin Kim, Chang-Hun Park, Sun-Kyung Kim, Chang-Seok Ki, Jong-Won Kim, Sun-Hee Kim","doi":"10.1097/PDM.0b013e3182319ebe","DOIUrl":"https://doi.org/10.1097/PDM.0b013e3182319ebe","url":null,"abstract":"Fusion transcripts (FT) from chromosomal rearrangements are key culprits in acute leukemia, with genotype-phenotype correlations including prognostic implications. Here, we report our experience of a commercially available platform utilizing multiplex reverse-transcriptase polymerase chain reaction (RT-PCR), HemaVision, in 309 consecutive patients with acute leukemia. A total of 108 patients (35%) were diagnosed as having acute leukemia with recurrent genetic abnormalities by the World Health Organization 2008 classification. The multiplex RT-PCR platform, detected 12 different FT in 92 (85.2%; 92/108), with a 99% concordance rate with conventional cytogenetics/fluorescence in situ hybridization. Additional information obtained from the multiplex RT-PCR assay included transcript heterogeneity and novel splice variants of FT. In addition, the RT-PCR assay targeting specific FT could be used for monitoring minimal residual disease. HemaVision is a robust diagnostic platform in detecting FT in routine clinical laboratories both at initial diagnosis and for disease monitoring.","PeriodicalId":11235,"journal":{"name":"Diagnostic Molecular Pathology","volume":"21 1","pages":"40-4"},"PeriodicalIF":0.0,"publicationDate":"2012-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/PDM.0b013e3182319ebe","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30438590","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: 11

Analysis of hematopoietic stem cell transplant engraftment: use of loss or gain of microsatellite alleles to identify residual hematopoietic malignancy. 造血干细胞移植植入分析:利用微卫星等位基因的缺失或获得来识别残留的造血恶性肿瘤。

Diagnostic Molecular Pathology Pub Date : 2011-12-01 DOI: 10.1097/PDM.0b013e31821dac16

Ming-Tseh Lin, Li-Hui Tseng, Katie Beierl, Shuko Harada, Michael J Hafez, James R Eshleman, Christopher D Gocke

{"title":"Analysis of hematopoietic stem cell transplant engraftment: use of loss or gain of microsatellite alleles to identify residual hematopoietic malignancy.","authors":"Ming-Tseh Lin, Li-Hui Tseng, Katie Beierl, Shuko Harada, Michael J Hafez, James R Eshleman, Christopher D Gocke","doi":"10.1097/PDM.0b013e31821dac16","DOIUrl":"https://doi.org/10.1097/PDM.0b013e31821dac16","url":null,"abstract":"Polymorphic short tandem repeat (STR), or microsatellite, loci have been widely used to analyze chimerism status after allogeneic hematopoietic stem cell transplantation. The presence of a patient's DNA, as identified by STR analysis, may indicate residual or recurrent malignant disease or may represent normal hematopoiesis of patient origin. The ratio of patient-derived to donor-derived alleles is used to calculate the relative amount of patient cells (both benign and malignant) to donor cells. STRs on chromosomes known to be gained or lost in a patient's tumor are generally ignored because it is difficult to perform meaningful calculations of mixed chimerism. However, in this study, we present evidence that STR loci on gained or lost chromosomes are useful in distinguishing the benign or malignant nature of chimeric DNA. In the peripheral blood or bone marrow of 4 hematopoietic stem cell transplantation patients with leukemia or lymphoma, we identified tumor DNA on the basis of STR loci showing copy number alteration. We propose that a targeted evaluation of STR loci showing altered copy number in posttransplant chimerism analysis can provide evidence of residual cancer cells.","PeriodicalId":11235,"journal":{"name":"Diagnostic Molecular Pathology","volume":"20 4","pages":"194-202"},"PeriodicalIF":0.0,"publicationDate":"2011-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/PDM.0b013e31821dac16","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30258705","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: 5

Galectin-3 and CD44v6 as markers for preoperative diagnosis of thyroid cancer by RT-PCR. 半乳糖凝集素-3和CD44v6作为甲状腺癌术前诊断的标志物。

Diagnostic Molecular Pathology Pub Date : 2011-12-01 DOI: 10.1097/PDM.0b013e31821a59f1

Ivan Samija, Neven Mateša, Josip Lukač, Zvonko Kusić

{"title":"Galectin-3 and CD44v6 as markers for preoperative diagnosis of thyroid cancer by RT-PCR.","authors":"Ivan Samija, Neven Mateša, Josip Lukač, Zvonko Kusić","doi":"10.1097/PDM.0b013e31821a59f1","DOIUrl":"https://doi.org/10.1097/PDM.0b013e31821a59f1","url":null,"abstract":"The aim of the study was to determine the diagnostic value of reverse transcriptase polymerase chain reaction (RT-PCR) analysis of galectin-3 and CD44v6 as markers for preoperative diagnosis of malignancy in lesions of the thyroid. RT-PCR analysis of galectin-3 and CD44v6 expression was performed on RNA isolated from fine-needle aspirates of thyroid lesions from 428 patients. The results were evaluated against the postoperative histopathological diagnosis or definitive cytological diagnosis in cases of nodular goiter and Hashimoto thyroiditis. A total of 57 (13%) samples were inadequate for RT-PCR. Galectin-3 and CD44v6 were positive in 167 (45%) and 158 (43%) out of 371 adequate samples, respectively. Galectin-3 and CD44v6 were positive in 56 (86%) and 54 (83%) out of 65 papillary carcinomas, in 16 (29%) and 18 (32%) out of 56 Hashimoto's thyroiditis, in 61 (34%) and 52 (29%) out of 181 nodular goiters, in 23 (43%) and 23 (43%) out of 53 follicular adenomas, in 3 (100%) and 3 (100%) out of 3 follicular carcinomas, and in 8 (62%) and 8 (62%) out of 13 Hurthle cell adenomas, respectively. Specificity, sensitivity, and positive and negative predictive values in discriminating between malignant and benign thyroid nodules were 64, 87, and 35 and 96% for galectin-3; 67, 84, and 36 and 95% for CD44v6; and 79, 82, and 47 and 95% for the analysis of both markers (considered positive only if both galectin-3 and CD44v6 were positive), respectively. Owing to relatively low specificity, the clinical value of galectin-3 and CD44v6 analysis by RT-PCR as a marker for preoperative diagnosis of malignancy in thyroid lesions is limited.","PeriodicalId":11235,"journal":{"name":"Diagnostic Molecular Pathology","volume":"20 4","pages":"233-41"},"PeriodicalIF":0.0,"publicationDate":"2011-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/PDM.0b013e31821a59f1","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30258040","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: 10

Characterization of molecular genetic alterations in GBMs highlights a distinctive molecular profile in young adults. GBMs分子遗传改变的表征突出了年轻人中独特的分子特征。

Diagnostic Molecular Pathology Pub Date : 2011-12-01 DOI: 10.1097/PDM.0b013e31821c30bc

Prerana Jha, Vaishali Suri, Geetika Singh, Pankaj Jha, Suvendu Purkait, Pankaj Pathak, Vikas Sharma, Mehar Chand Sharma, Ashish Suri, Deepak Gupta, Ashok Kumar Mahapatra, Chitra Sarkar

{"title":"Characterization of molecular genetic alterations in GBMs highlights a distinctive molecular profile in young adults.","authors":"Prerana Jha, Vaishali Suri, Geetika Singh, Pankaj Jha, Suvendu Purkait, Pankaj Pathak, Vikas Sharma, Mehar Chand Sharma, Ashish Suri, Deepak Gupta, Ashok Kumar Mahapatra, Chitra Sarkar","doi":"10.1097/PDM.0b013e31821c30bc","DOIUrl":"https://doi.org/10.1097/PDM.0b013e31821c30bc","url":null,"abstract":"To evaluate age-related differences in histopathologic and molecular profile of glioblastomas (GBMs) at various age groups, with special reference to TP53 mutation, epidermal growth factor receptor (EGFR) amplification, EGFR vIII mutant, PTEN deletion, and IDH1 mutation. Agewise GBM incidence was calculated over a period of 5 years (2005 to 2009). Seventy-five GBMs were selected for molecular analysis. Majority of cases were in the age group of 41 to 60 years, and mean age was 43.6 years. Histology of all 75 cases selected for molecular profiling was identical. Primary adult GBMs showed EGFR amplification and PTEN deletion in majority (37.3% and 54.9%, respectively). TP53 and IDH1 mutations were rare (11.8% cases each). In secondary GBMs, TP53 (66.7%) and IDH1 mutations (44.4%) were most frequent. PTEN deletion was seen in 33.3% and none had EGFR amplification. Pediatric GBMs (<18 y) harbored frequent TP53 mutations (46.7%) and PTEN deletion in 40%. IDH1 mutations and EGFR amplification were absent. The molecular profile of primary GBMs in young adults (19 to 40 y) was distinctly different from that of adults older than 40 years. TP53 mutation was present in 20% cases. The frequency of EGFR amplification (13.3%) and PTEN deletion (33.3%) was significantly low (P=0.028 and 0.046, respectively). IDH1 mutation, which is rare in primary adult GBMs, was present in 40% of cases. Molecular heterogeneity exists within GBMs of different age cohorts. The molecular profile of GBMs in young adults is distinctly different. Thus, there is a strong need for further studies in various age groups to provide guidelines for therapeutic targeting.","PeriodicalId":11235,"journal":{"name":"Diagnostic Molecular Pathology","volume":"20 4","pages":"225-32"},"PeriodicalIF":0.0,"publicationDate":"2011-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/PDM.0b013e31821c30bc","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30258039","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: 40