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81.
Yvonne T Tsang Michael T Deavers Charlotte C Sun Suet‐Yan Kwan Eric Kuo Anais Malpica Samuel C Mok David M Gershenson Kwong‐Kwok Wong 《The Journal of pathology》2013,231(4):449-456
BRAF and KRAS mutations in ovarian serous borderline tumours (OSBTs) and ovarian low‐grade serous carcinomas (LGSCs) have been previously described. However, whether those OSBTs would progress to LGSCs or whether those LGSCs were developed from OSBT precursors in previous studies is unknown. Therefore, we assessed KRAS and BRAF mutations in tumour samples from 23 recurrent LGSC patients with a known initial diagnosis of OSBT. Paraffin blocks from both OSBT and LGSC samples were available for five patients, and either OSBTs or LGSCs were available for another 18 patients. Tumour cells from paraffin‐embedded tissues were dissected out for mutation analysis by conventional polymerase chain reaction (PCR) and Sanger sequencing. Tumours that appeared to have wild‐type KRAS by conventional PCR–Sanger sequencing were further analysed by full COLD (co‐amplification at lower denaturation temperature)‐PCR and deep sequencing. Full COLD‐PCR was able to enrich the amplification of mutated alleles. Deep sequencing was performed with the Ion Torrent personal genome machine (PGM). By conventional PCR–Sanger sequencing, BRAF mutation was detected only in one patient and KRAS mutations were detected in ten patients. Full COLD‐PCR deep sequencing detected low‐abundance KRAS mutations in eight additional patients. Three of the five patients with both OSBT and LGSC samples available had the same KRAS mutations detected in both OSBT and LGSC samples. The remaining two patients had only KRAS mutations detected in their LGSC samples. For patients with either OSBT or LGSC samples available, KRAS mutations were detected in seven OSBT samples and six LGSC samples. Surprisingly, patients with the KRAS G12V mutation have shorter survival times. In summary, KRAS mutations are very common in recurrent LGSC, while BRAF mutations are rare. The findings indicate that recurrent LGSC can arise from proliferation of OSBT tumour cells with or without detectable KRAS mutations. Copyright © 2013 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd. 相似文献
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Aysen Terzi Isıl Yıldız Aktaş Anıl Dolgun Ali Ayhan Türkan Küçükali Alp Usubütün 《Pathology, research and practice》2013
We intended to reevaluate the morphologic prognostic factors for early-stage ovarian carcinomas. We reviewed 111 patients diagnosed with early-stage ovarian cancer who had undergone primary surgery at Hacettepe Hospital between 1984 and 2001, using diagnostic criteria from the WHO-2003 classification. We applied the Universal grading system suggested by Shimizu/Silverberg and noted FIGO-stage, histotype, tumor size, bilaterality, and endometriosis. These features were compared with each other and survival. The survival analysis was carried out by Kaplan–Meier curves. Of the cases, 52 were reclassified as ‘borderline tumor’ or ‘cystadenoma with borderline foci’ and 59 as ‘invasive carcinoma’. FIGO-stage and mitotic count were significant for survivals of 59 patients with cancer. Mitotic index was also significant for the probability of metastasis. The patients with stage-II cancer had 5.65 times more risk of recurrence than stage-I cancer. The 5-year overall and disease-free survivals rates were 90.6% and 87.5% for stage-I, 54.7% and 39.3% for stage-II, respectively. Universal grade did not reach statistical significance for survivals but it was related to FIGO-stage significantly. In conclusion, FIGO-stage is the most reliable prognosticator. Although prognostic value of universal grade is not significant, mitotic count may provide important prognostic information for early-stage ovarian carcinomas. 相似文献
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《Immunological investigations》2013,42(3):235-244
The etiology of Systemic lupus erythematosus (SLE) seems to be multifactorial including environmental as well as genetic factors. Major histocompatibility complex (MHC) genes especially HLA-DRB1 and HLA-DQB1 are strongly implicated in susceptibility to SLE. Moreover ethnicity has been found to have a significant role in both disease susceptibility and disease expression. This study was carried out to determine HLA-DRB1 allele association with SLE susceptibility and disease presentation in Egyptian children with juvenile onset SLE. HLA-DRB1 allele typing was done using polymerase chain reaction-sequence-specific oligonucleotide probe for 65 juvenile Egyptian SLE patients and 150 healthy controls. p-values were corrected for the number of the alleles tested (Pc). HLA-DRB1*15 g allele was significantly increased in SLE children versus controls (OR = 4.76; 95% CI = 1.83–12.4; p = 0.001 and Pc = 0.012). No HLA-DRB1 allele was found to be statistically significant associated with musculoskeletal, cutaneous, hematologic, cardiac or neuropsychiatric manifestations in SLE patients (p > 0.05). Moreover no statistically significant association was found between HLA-DRB1 alleles and clinical presentation or histologic classes of lupus nephritis. The current work suggests that HLA-DRB1*15g allele may be a susceptibility allele in Egyptian children with SLE but is not related to clinical presentation of SLE. 相似文献
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Sang Hwa Lee Hyunkyung Kim Wook Youn Kim Hye Seung Han So Dug Lim Wan Seop Kim Sehun Kim Tae Sook Hwang 《Pathology international》2013,63(5):252-259
We evaluated p53, KRAS, BRAF and CTNNB1 mutation and p53, WT1, p16 and beta‐catenin expression in 31 ovarian high‐grade serous adenocarcinoma. Twenty‐five (80.6%) tumors contained functional mutations of p53; three frameshift, four nonsense and 19 missense mutations. None of the tumors showed KRAS, BRAF or CTNNB1 mutation. In all 18 tumors with missense mutations, ≥60% of tumor cells were strongly positive for p53 immunostaining whereas all tumors with frameshift or nonsense mutations were completely negative. Missense mutation was correlated with diffuse and strong imunoreaction and frameshift/nonsense mutation was correlated with completely negative immunoreaction (P = 0.000). Tumors with wild‐type p53 revealed a wide range of immunostaining patterns. In 27 (87.1%) and 18 (58.1%) tumors, ≥50% of tumor cells were moderate to strongly positive for WT1 and p16, respectively. A considerable intratumoral heterogeneity for p16 expression was present. None of the tumors demonstrated nuclear beta‐catenin expression. p53 mutations appear to be a powerful molecular marker for ovarian high‐grade serous adenocarcinoma. Using p53 with an appropriate interpretation criteria together with WT1, p16 and beta‐catenin, most of the high‐grade serous adenocarcinoma could be distinguished from other ovarian tumors. 相似文献
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MR imaging of locally advanced low rectal cancer: Relationships between imaging findings and the pathological tumor regression grade 下载免费PDF全文
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Association of ERG and TMPRSS2‐ERG with grade,stage, and prognosis of prostate cancer is dependent on their expression levels 下载免费PDF全文
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