Journal of Diagnostic Pathology最新文献

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Prevalence of chronic thyroiditis in a cohort of patients with Papillary Carcinoma of Thyroid 慢性甲状腺炎在甲状腺乳头状癌患者队列中的患病率
Journal of Diagnostic Pathology Pub Date : 2016-12-21 DOI: 10.4038/JDP.V11I2.7714
N. M. Garusinghe, R. Priyangika, A. U. Kiriwandeniya
{"title":"Prevalence of chronic thyroiditis in a cohort of patients with Papillary Carcinoma of Thyroid","authors":"N. M. Garusinghe, R. Priyangika, A. U. Kiriwandeniya","doi":"10.4038/JDP.V11I2.7714","DOIUrl":"https://doi.org/10.4038/JDP.V11I2.7714","url":null,"abstract":"Introduction Chronic thyroiditis (CT) is known to be associated with papillary carcinoma of thyroid (PCT). The aim of this study was to identify the prevalence of chronic thyroiditis in a cohort of patients with papillary carcinoma of thyroid and to assess the pre-surgical awareness of existence of chronic thyroiditis. Methodology Patients who underwent thyroidectomy from August 2013 to August 2015 at Colombo South Teaching Hospital for PCT were included in the study. Presence of a presurgical diagnosis of CT was assessed by available details in request forms, histopathological and cytopathological reports and/or by direct telephone interviews. Results The total study population was 114 with a female preponderance (94/114, 82.5%). The mean age was 41.52 years and the highest occurrence was in 30 – 40 years age group. Out of 114 PCT patients 63.2% (72/114) were associated with background CT. Of these 32 (44.4 %) did not have a pre-surgical diagnosis of CT. Discussion Two thirds (2/3) of our study population with PCT had associated CT. Majority of them were not aware of CT until after the surgical resection of the gland. However, this study may under-estimate the prevalence of background CT in PCT in both histological and cytological assessments since the study is a review of reports rather than of slides. Conclusion Results of this preliminary study emphasize the need for further studies to establish the percentage of papillary carcinoma of thyroid associated with chronic thyroiditis in the Sri Lankan population. This may help in assessing the feasibility of a population screening programme.","PeriodicalId":225127,"journal":{"name":"Journal of Diagnostic Pathology","volume":"27 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2016-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131452989","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
Pathologist’s role in Non Communicable Diseases 病理学家在非传染性疾病中的作用
Journal of Diagnostic Pathology Pub Date : 2016-12-21 DOI: 10.4038/jdp.v11i2.7703
M. Jayawickrama
{"title":"Pathologist’s role in Non Communicable Diseases","authors":"M. Jayawickrama","doi":"10.4038/jdp.v11i2.7703","DOIUrl":"https://doi.org/10.4038/jdp.v11i2.7703","url":null,"abstract":"","PeriodicalId":225127,"journal":{"name":"Journal of Diagnostic Pathology","volume":"11 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2016-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129971333","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
Does lymph node retrieval by grouping according to UICC TNM protocol increase the yield of total number and the number of positive lymph nodes in pancreaticoduodenectomy specimens 根据UICC TNM方案分组淋巴结回收是否增加了胰十二指肠切除术标本中淋巴结总数和阳性淋巴结数的产量
Journal of Diagnostic Pathology Pub Date : 2016-12-21 DOI: 10.4038/JDP.V11I2.7719
N. Samarakoon, L. B. D. J. Siriwikum, S. Liyanage, B. Mahendra, R. Rathnayake, D. S. Edirieweera, S. Hewavisenthi
{"title":"Does lymph node retrieval by grouping according to UICC TNM protocol increase the yield of total number and the number of positive lymph nodes in pancreaticoduodenectomy specimens","authors":"N. Samarakoon, L. B. D. J. Siriwikum, S. Liyanage, B. Mahendra, R. Rathnayake, D. S. Edirieweera, S. Hewavisenthi","doi":"10.4038/JDP.V11I2.7719","DOIUrl":"https://doi.org/10.4038/JDP.V11I2.7719","url":null,"abstract":"Introduction Lymph node (LN) involvement is an important prognostic factor, reflected in the Union for International Cancer Control(UICC) TNM classification of malignant tumours, where pathological nodal staging is dependent upon the total number of involved LNs in the surgical resection specimen. The objective of this study was to determine the number of LNs retrieved from pancreaticoduodenectomy (PD) specimens and compare them with data from other institutes and determine whether grouping of LNs improves the total yield and the number of positive lymph nodes. Methodology Fourty two pathology reports [grouped (G)-30 and non-grouped (NG)-12] from PD resection specimens between 2011-2016 in a single center were examined. The number of LNs and the method of retrieving LNs, i.e., whether grouped according to the UICC TNM protocol (G) or non-grouped (NG), was established for each case. LN retrieval was done by the post-graduate trainees under the supervision of a consultant. The Wilcoxon signed rank test was used to establish whether there was a statistically significant difference at the p level 0.1. Results The average LN yield was 14.37. In the G category, mean was 17 (SD – 8.338), and the median was 15 (5-48). In the NG category, mean was 11.75 (SD - 12.45) and the median was 10 (1-31). The mean and median of LNs with metastases in G were 1.56 (SD-2.527) and 5 (0-11) respectively. The mean and median of LNs with metastases in NG were 2.83 (SD-4.460) and 0.5 (0-13) respectively. The difference in the total number of LNs retrieved in the two groups was statistically significant (p=0.07). However, this was not so with regard to the number of LNs with metastases (p=0.69). Discussion The average number of LNs retrieved (14.37) compared favourably with other studies, 15 in Liverpool UK study (G method), 15.5 in Toronto Canada study and 11-15 in Leiden Netherlands study (whether G/NG were not specified in these studies). The recommendation by the Royal college of Pathologists UK is 15 LNs. Conclusion The grouping of lymph nodes improved the total yield significantly. However, it did not affect the number of lymph nodes with metastases.","PeriodicalId":225127,"journal":{"name":"Journal of Diagnostic Pathology","volume":"12 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2016-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128774053","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
Prevalence of incidental thyroid pathology: Preliminary results of a post-mortem study 偶然甲状腺病理的流行:一项验尸研究的初步结果
Journal of Diagnostic Pathology Pub Date : 2016-12-21 DOI: 10.4038/JDP.V11I2.7724
P. Katulanda, A. Priyani, M. V. C. D. Silva, A. Tennakoon, N. Somasundaram, R. Amararatne, U. Attygalle, H. Wijesinghe, G. Ranaweera, W. Wickremasinghe, W. Samaranayake, M. M. R. Nishadi
{"title":"Prevalence of incidental thyroid pathology: Preliminary results of a post-mortem study","authors":"P. Katulanda, A. Priyani, M. V. C. D. Silva, A. Tennakoon, N. Somasundaram, R. Amararatne, U. Attygalle, H. Wijesinghe, G. Ranaweera, W. Wickremasinghe, W. Samaranayake, M. M. R. Nishadi","doi":"10.4038/JDP.V11I2.7724","DOIUrl":"https://doi.org/10.4038/JDP.V11I2.7724","url":null,"abstract":"Introduction Incidental thyroid lesions are diagnosed with increased frequency by sophisticated imaging techniques; however, Sri Lanka lacks data on the prevalence of incidental thyroid pathology. The objective of this study was to determine the prevalence of incidental thyroid pathology in Sri Lanka. Methodology Consecutive autopsies of which the death was due to undiagnosed acute diseases or trauma, conducted at the Institute of Forensic Medicine and Toxicology, Colombo, from 2014-2016 were included. Informed written consent and a brief history were obtained from next of kin. Gross examination and microscopic examination of grossly normal and adequately sampled abnormal thyroid tissue was done by a histopathologist. Results Data was obtained from 248, including 174(70.2%) males and 74(29.8%) females of which eight were excluded due to unavailability of the thyroid. The mean age was 52.6 years (SD=16.9). None had a history of thyroid disease. One had a family history of thyroid carcinoma. At least one pathology was seen in 136/240(56.7%): papillary microcarcinoma (PMC) in 25(10.4%), colloid nodules in 72(30%), hyperplastic nodules in 6(2.5%), chronic autoimmune thyroiditis (CAT) in 52(21.7%). PMC was equally prevalent in males (10.5%) and females(10%) with no association with age (p>0.05). CAT was diffuse in 31(12.9%) and focal in 21(8.8%). Prevalence of CAT among females (63.4%, 33/52) was significantly higher than males (36.6%- 19/52)(p Discussion and Conclusion The commonest pathology found was colloid nodules. The prevalence of undiagnosed papillary microcarcinoma and chronic autoimmune thyroiditis was considerably high. Similar to other studies, prevalence of chronic autoimmune thyroiditis was significantly higher in females than males. Prevalence of papillary microcarcinoma falls in between the lowest, 0.01% in USA and highest, 35.6% in Finland, reported in literature.","PeriodicalId":225127,"journal":{"name":"Journal of Diagnostic Pathology","volume":"95 2","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2016-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"120860868","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: 1
Human Epidermal Growth Factor Receptor-2 (HER2) expression in Gastric adenocarcinoma and relevant clinicopathological features in a cohort of Sri Lankan patients 人表皮生长因子受体-2 (HER2)在一组斯里兰卡患者胃腺癌中的表达及相关临床病理特征
Journal of Diagnostic Pathology Pub Date : 2016-12-21 DOI: 10.4038/JDP.V11I2.7716
D. Subasinghe, S. Sivaganesh, A. Samarasekera, M. Kumarasinghe, D. Samarasekera, M. D. Lokuhetty
{"title":"Human Epidermal Growth Factor Receptor-2 (HER2) expression in Gastric adenocarcinoma and relevant clinicopathological features in a cohort of Sri Lankan patients","authors":"D. Subasinghe, S. Sivaganesh, A. Samarasekera, M. Kumarasinghe, D. Samarasekera, M. D. Lokuhetty","doi":"10.4038/JDP.V11I2.7716","DOIUrl":"https://doi.org/10.4038/JDP.V11I2.7716","url":null,"abstract":"Introduction Human epidermal growth factor receptor -2 (HER2) gene over-expression heralds adverse prognosis in gastric adenocarcinoma (GCa). HER2 protein over-expression by immunohistochemistry (IHC) ranges from 10%-22.8% and 11.7%-15.74% in Western and Asian studies respectively. We aimed to evaluate HER2 positivity in GCa by IHC and to study relevant clinicopathological relationships, as information is locally unavailable. Methodology Hundred consecutive GCa (excluding gastrooesophageal junction tumours) were recruited prospectively from the National Hospital of Sri Lanka over two years. The diagnosis was made on endoscopic biopsy/gastrectomy specimens. HER2 was assessed in paraffinized tumour using c-erB-2 oncoprotein (DAKO A0485) and Real-TM Envision system. Scores of 2+ and 3+ were considered positive, using standard HER2 expression criteria. Relationship between HER2 and clinicopathological parameters were analyzed using SPSS-21 and Chi-squared test. Results Study included 44 gastrectomies and 56 biopsies. Mean age was 61.1 years (range 32- 82). HER2 was positive in 9 (9%) GCas: 2+ in 3(5.4%) biopsies and 3(6.8%) resections, 3+ in 1(1.8%) biopsy and 2(4.5%) resections. Eight (88.9%) HER2 positive GCa occurred in =T3) (p=0.31). HER2 positive cases showed, poor differentiation (p=0.047), higher nuclear grade (p=0.029), mitotic counts >5/HPF (p=0.003), extracellular mucin (p=0.05), tumour necrosis (p=0.037), perineural invasion (p=0.002) and nodal metastasis (p=0.04) assessed only in gastric resections. Discussion and conclusion HER2 positivity with immunohistochemistry was 9% in the gastric carcinoma cohort and were associated with higher stage, adverse histological parameters and nodal metastasis in gastric resections. Adverse histological features can be used as screening features for HER2 testing in gastric carcinoma in limited resource settings.","PeriodicalId":225127,"journal":{"name":"Journal of Diagnostic Pathology","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2016-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128788918","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
Prognostic indices predictive of short term survival in breast carcinoma in the Sri Lankan setting 斯里兰卡乳腺癌患者短期生存的预后指标
Journal of Diagnostic Pathology Pub Date : 2016-12-21 DOI: 10.4038/JDP.V11I2.7721
H. Wijesinghe, P. Thuvarakan, G. Wijesinghe, A. Samarasekera, M. D. Lokuhetty
{"title":"Prognostic indices predictive of short term survival in breast carcinoma in the Sri Lankan setting","authors":"H. Wijesinghe, P. Thuvarakan, G. Wijesinghe, A. Samarasekera, M. D. Lokuhetty","doi":"10.4038/JDP.V11I2.7721","DOIUrl":"https://doi.org/10.4038/JDP.V11I2.7721","url":null,"abstract":"Introduction There are many established and novel prognostic indices described for breast carcinoma (BCa). We aimed to study prognostic indices for BCa derived from routine clinical, histopathological and immunohistochemical data in the local setting and to evaluate their impact on short-term overall survival(OS) and disease free survival(DFS). Methodology Bidirectional cohort study included 174 BCa patients at National Hospital of Sri Lanka, from 2012-2014, excluding post-neo-adjuvant chemotherapy cases. Clinical details, tumour size and nodal status were obtained from histopathology records. Histopathological parameters, oestrogen and progesterone receptors and HER2 status were reviewed. Molecular subtype, nodal ratio (NR=number of positive nodes/total number retrieved) and Nottingham prognostic index (NPI) were determined. Follow up data (1½months-4 years) were obtained. Data was analyzed by life tables and Cox regression using SPSS 16.0. Results Mean age was 56.5 years (29-87years) and mean follow-up duration was 27.3 months(SD=8.68). Of the study group 148(85.1%) remained disease free, 10(5.7%)survived with metastasis, 4(2.3%) survived with recurrences and 12(6.9%) succumbed. Duration of breast lump Discussion and conclusion Stage, nodal ratio and lymphoid infiltrate were predictive of short-term survival similar to other studies. Exclusion of advanced cases possibly contributed to lack of significance of other prognostic factors. Breast lump duration, tumour, nodal and TNM stages and nodal ratio were predictive of both overall survival and disease free survival, with tumour stage being predictive on both univariate and multivariate analysis. Lymphoid infiltrate at tumour periphery was predictive of overall survival.","PeriodicalId":225127,"journal":{"name":"Journal of Diagnostic Pathology","volume":"30 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2016-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126826058","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
Cryptococcal infection in a post renal transplant patient presenting as a cutaneous nodule 肾移植后隐球菌感染患者表现为皮肤结节
Journal of Diagnostic Pathology Pub Date : 2016-12-21 DOI: 10.4038/JDP.V11I2.7697
H. D. Tennekoon, S. Vinothika, Niranthi Perera
{"title":"Cryptococcal infection in a post renal transplant patient presenting as a cutaneous nodule","authors":"H. D. Tennekoon, S. Vinothika, Niranthi Perera","doi":"10.4038/JDP.V11I2.7697","DOIUrl":"https://doi.org/10.4038/JDP.V11I2.7697","url":null,"abstract":"Risk factors for acquiring cryptococcosis include HIV infection, solid organ transplantation (SOT) and other forms of innate and acquired immunosuppression (1). Infection is usually acquired by inhalation of dehydrated yeasts or basidiospores leading to the establishment of a primary pulmonary infection (2). Subsequent to initial infection or reactivation, there can be haematogenous dissemination preferentially to the central nervous system (CNS) and a variety of other organs like skin, soft tissue and bone, depending on the immune status of the host (3). Immunocompetent patients can be asymptomatic or have limited pulmonary disease, while immunocompromised patients tend to have disseminated disease with frequent CNS involvement and a fatal outcome.","PeriodicalId":225127,"journal":{"name":"Journal of Diagnostic Pathology","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2016-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130444740","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
Juvenile ossifying fibroma: an analysis of clinico-pathological features in a case series with a literature review 青少年骨化性纤维瘤:临床病理特征分析与文献回顾
Journal of Diagnostic Pathology Pub Date : 2016-12-21 DOI: 10.4038/JDP.V11I2.7705
H. Weerasinghe, Pubudu. C. Wijesuriya, P. Jayasooriya
{"title":"Juvenile ossifying fibroma: an analysis of clinico-pathological features in a case series with a literature review","authors":"H. Weerasinghe, Pubudu. C. Wijesuriya, P. Jayasooriya","doi":"10.4038/JDP.V11I2.7705","DOIUrl":"https://doi.org/10.4038/JDP.V11I2.7705","url":null,"abstract":"Juvenile Aggressive Ossifying Fibroma (JAOF) is divided into two entities namely Juvenile Psammomatoid Ossifying Fibroma (JPOF) and Juvenile Trabecular Ossifying Fibroma (JTOF). JAOFs are aggressive but benign tumours that require clinico-pathological correlation to arrive at the definitive diagnosis. We report nine new cases of JPOF and 6 cases of JTOF with a brief review of the literature to aid correct diagnosis of these two different entities. According to the clinico-pathological analysis both JPOF and JTOF had occurred in children and adults, with a mean age of 28.6 years and 21 years at presentation respectively. JPOF showed a male predilection while equal gender distribution was observed in JTOF. Both tumours occurred most often in the mandible. Regarding the histopathological features all tumours were unencapsulated. All cases of JPOF showed presence of psammoma bodies which can be considered as a main diagnostic feature. JTOF showed osteoid and immature woven bone trabeculae. Osteoblastic rimming was commonly observed among JTOF but absent in JPOF. Other histopathological features did not show any striking difference between the two lesions. In conclusion, the term “Juvenile aggressive ossifying fibroma” is a misnomer as it can occur in adults as well. Therefore, the word “Juvenile” should be excluded when renaming the tumour which is a “need of the hour”. Further, the study demonstrates the use of demographic, radiological and histopathological features with clinico-pathological correlation to diagnose and exclude mimics of JPOF and JTOF.","PeriodicalId":225127,"journal":{"name":"Journal of Diagnostic Pathology","volume":"14 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2016-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123646793","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: 1
Pattern of germline variants detected in Sri Lankan patients referred for genetic evaluation of hereditary breast cancer using a multi-gene cancer panel test 在斯里兰卡患者中检测到的种系变异模式,用于使用多基因癌症小组测试对遗传性乳腺癌进行遗传评估
Journal of Diagnostic Pathology Pub Date : 2016-12-21 DOI: 10.4038/JDP.V11I2.7708
N. Sirisena, Nilaksha Neththikumara, K. Wetthasinghe, V. Dissanayake
{"title":"Pattern of germline variants detected in Sri Lankan patients referred for genetic evaluation of hereditary breast cancer using a multi-gene cancer panel test","authors":"N. Sirisena, Nilaksha Neththikumara, K. Wetthasinghe, V. Dissanayake","doi":"10.4038/JDP.V11I2.7708","DOIUrl":"https://doi.org/10.4038/JDP.V11I2.7708","url":null,"abstract":"Introduction Genes in which germline mutations confer highly or moderately increased risks of cancer are called cancer predisposition genes (CPGs). Hereditary breast cancers occur in individuals with germline variants in various CPGs such as BRCA1, BRCA2, CHEK2, ATM, PALB2, TP53, PTEN, STK11, BRIP1, CDKN2A, BARD1, FANC1 . Multi-gene panel testing for detection of clinically actionable genetic variants in CPGs that are critical for cancer care is useful in routine clinical practice. This study aimed to describe the pattern of germline variants in a cohort of Sri Lankan patients referred for genetic evaluation of hereditary breast cancer to our centre. Methodology After providing pre-test counselling and obtaining written informed consent, blood samples from eleven individuals referred for genetic evaluation of hereditary breast cancer were tested using a 94-gene cancer panel test on the Illumina MiSeq NGS platform, followed by bioinformatics analysis. Results There were 9 (81.8%) patients with invasive carcinoma and 2 (18.2%) asymptomatic individuals. Their mean age was 47.4 years. Germline variants in seven CPGs were identified in 10 (90.9%) patients. The two most common variants were B RCA2 (27.3%)[c.9117G>A;p.Pro3039 =;c.784G>A; p.Ala262Thr;c.2488A>G;p.Asn830Asp] and BRCA1 (18.2%) c.823G>A;p.Gly275Ser; c.5289delG; p.Leu1764Terf]. The remaining variants were in moderate-penetrance genes: CHEK2 (9.1%) [c.1630G>A;p.Glu544Lys], ATM (9.1%) [c.2932T>C;p.Ser978Pro], PALB2 (9.1%) [c.2768T>G;p.Val923Gly], CDKN2A (9.1%) [c.377A>C;p.Gln126Pro] and FANC1 (9.1%) [c.3179T>C;p.Ile1060Thr]. Twenty percent were pathogenic variants, another 20% were likely pathogenic and 60% were variants of uncertain significance. Discussion Variants in both high-penetrance and moderate-penetrance genes associated with hereditary breast cancer were present in the patients tested. These risks would have been missed if testing were guided strictly by established single-gene and/or syndrome testing guidelines. Conclusion Identifying the underlying germline variants using multi-gene cancer panel testing is valuable in guiding treatment decisions and genetic counselling/screening of at-risk family members.","PeriodicalId":225127,"journal":{"name":"Journal of Diagnostic Pathology","volume":"222 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2016-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134481313","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
Expression of epithelial and mesenchymal markers in invasive (ductal) breast carcinoma and nodal metastasis 浸润性(导管性)乳腺癌和淋巴结转移中上皮和间充质标志物的表达
Journal of Diagnostic Pathology Pub Date : 2016-12-21 DOI: 10.4038/JDP.V11I2.7710
L. Y. V. Pathirana, E. Siriweera, H. Amaratunga, S. Adikari, N. Gunasinghe
{"title":"Expression of epithelial and mesenchymal markers in invasive (ductal) breast carcinoma and nodal metastasis","authors":"L. Y. V. Pathirana, E. Siriweera, H. Amaratunga, S. Adikari, N. Gunasinghe","doi":"10.4038/JDP.V11I2.7710","DOIUrl":"https://doi.org/10.4038/JDP.V11I2.7710","url":null,"abstract":"Introduction The phenomenon, Epithelial-mesenchymal transition (EMT) has been shown to enable epithelial cells to acquire a mesenchymal phenotype facilitating cancer cell mobilization. Evidence in favour has been derived predominantly from cancer cell lines and/or animal model studies. The objectives of this study were to observe E-cadherin and vimentin expression patterns in invasive (ductal) breast carcinoma-no special type (BCa) and corresponding metastatic lymph nodes (mLNs) and to compare the expression of these markers in BCa with and without metastasis using clinical samples. Methodology Tissues of 24 metastatic BCa (mBCa) with mLNs and 17 non metastatic BCa (nmBCa) obtained from the Department of Pathology, Faculty of Medicine, Peradeniya were included. Immunohistochemical expression of E-cadherin (epithelial cell adhesion membrane marker) and vimentin (mesenchymal cytoplasmic marker) was observed on all BCas and mLNs. Ten random high-power fields (10x40) of 100 cells each were assessed to determine the percentage of positive cells . The mean expression of markers was compared between mBCa and nmBCa by independent sample T-test and mBCa and mLN by paired sample T-test. Results The mean E-cadherin expression was 70.54% (27.67%-97.67%) in mBCa, 86.40% (63.33%-96.67%) in nmBCa and 89.95% (46.33%-100%) in mLNs. The mean vimentin expression was 6.54% (2.37%-13.87%) in mBCa, 5.39% (2.12%- 9.77%) in nmBCa and 1.28% (0.13%-8.25%) in mLNs. The E-cadherin expression was significantly lower in mBCa compared to nmBCa (p=0.002) and in mBCa compared to mLNs (p=0.000). Vimentin expression was not significant between mBCA and nmBCa (p=0.176). Higher vimentin expression in mBCa compared to mLNs was statistically significant (p=0.000). Discussion and conclusion The significantly lower expression of E-cadherin in mBCa compared to nmBCa suggests that loss of epithelial cell properties promotes metastasis. Significantly lower E-cadherin and significantly higher vimentin expressions in mBCa compared to mLNs is supportive of EMT in BCa. The reversed pattern is noted in nodal BCa metastasis suggesting the possibility of mesenchymal-epithelial transition of metastatic cancer cells in the lymph node.","PeriodicalId":225127,"journal":{"name":"Journal of Diagnostic Pathology","volume":"60 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2016-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131138651","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
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