Human pathology最新文献

{"title":"Ductal hamartoma of the pancreas: A clinicopathologic study","authors":"Debasmita Das ,&nbsp;Ivan A. Gonzalez ,&nbsp;Matthew M. Yeh ,&nbsp;Tsung-Teh Wu ,&nbsp;Dhanpat Jain","doi":"10.1016/j.humpath.2024.105669","DOIUrl":"10.1016/j.humpath.2024.105669","url":null,"abstract":"<div><h3>Background</h3><div>Benign ductular proliferative lesions that resemble hepatic von-Meyenburg Complexes(VMC)/bile duct hamartomas have been noted to occur in the pancreas, but their incidence, clinicopathologic features and pathogenesis remains unknown. We present herein 3 patients that presented as cysts and call them pancreatic ductal hamartomas (PDH).</div></div><div><h3>Methods</h3><div>Three cases of PDH were identified form a multi-institutional collaborative group, and their clinicopathological were reviewed. In addition, we also examined 115 consecutive pancreatic resections at our institutions for the presence of incidental PDHs.</div></div><div><h3>Results</h3><div>The lesions were detected in each case during imaging for abdominal symptoms or grossing. The clinical suspicion was intra-ductal pancreatic mucinous cystic neoplasm (IPMN) in each case that led to pancreatectomy. The cyst fluid CEA was elevated in 2 of the patients tested. The patient age and gender were 73/M (case1), 68/F (case2) and 73/M (case3). In case1 besides the larger cystic lesion, numerous tiny lesions (0.1–0.3 cm) were seen throughout the pancreas. In case2 this was the only lesion, while in case3 there was another gastric-type IPMN with high-grade dysplasia. PDH were identified in 5(4.3%) of 115 consecutive pancreatectomy specimens. The PDHs measured 0.1–2.3 cm, and the histology is characterized by proliferation of irregular ductal structures lined by bland flattened to low columnar epithelium, variable cystic change and inspissated luminal secretions. The lining epithelium varied from non-mucinous pancreatico-biliary type to mucinous gastric foveolar-type, with occasional squamous metaplasia.</div></div><div><h3>Summary</h3><div>PDH are seen in 4.5% of all pancreatectomy specimens and detected incidentally, but occasionally may become large and/or cystic enough leading to pancreatectomy. Their relationship to pancreatic carcinoma or IPMN remains currently unknown.</div></div>","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":"153 ","pages":"Article 105669"},"PeriodicalIF":2.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142371652","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pure intertubular seminoma (PITS) of the testis: A multi-institutional cohort of a rare growth pattern of seminoma","authors":"Seema Kaushal ,&nbsp;Ekta Jain ,&nbsp;Andres M. Acosta ,&nbsp;Ankur R. Sangoi ,&nbsp;Anandi Lobo ,&nbsp;Shilpy Jha ,&nbsp;Shivani Sharma ,&nbsp;Samriti Arora ,&nbsp;Arshi Beg ,&nbsp;Mahmut Akgul ,&nbsp;Sean R. Williamson ,&nbsp;Manas R. Baisakh ,&nbsp;Niharika Pattnaik ,&nbsp;Swati Satturwar ,&nbsp;Anil V. Parwani ,&nbsp;Mallika Dixit ,&nbsp;Vipra Malik ,&nbsp;Adeboye O. Osunkoya ,&nbsp;Liang Cheng ,&nbsp;Mahul B. Amin ,&nbsp;Sambit K. Mohanty","doi":"10.1016/j.humpath.2024.105667","DOIUrl":"10.1016/j.humpath.2024.105667","url":null,"abstract":"<div><div>Pure intertubular seminoma (PITS) of the testis is described as the presence of seminoma cells within the interstitium of testis without any evidence of diffuse growth pattern or mass lesion of classical seminoma. These tumors are clinically and grossly inconspicuous and are diagnosed incidentally or during investigations for testicular pain, infertility or other symptoms. Rarely metastasis is the first presentation. Microscopic identification can be difficult and poses a diagnostic challenge in the absence of a mass lesion. Seminomas with exclusive intertubular growth patterns were gathered in an international cohort. Diagnoses were confirmed by fellowship-trained or specialized urologic pathologists. Cases with the presence of a classical diffuse or nested pattern of seminoma or any other germ cell tumor component were excluded. The patient's age, tumor characteristics and additional clinicopathologic features were recorded and analyzed. 15 patients of pure intertubular seminoma (PITS) were collated<strong>.</strong> The mean age of presentation was 29 years. Patients presented with variable symptoms, including undescended testis (26%, n = 4/15), testicular heaviness/pain (20%, n = 3/15) infertility (20%, n = 3/15) and metastasis (6%, n = 1/15); presentation was unknown in 4 patients. Of note, none of the patients presented because of testicular mass. Serum markers were within normal limits in most patients (93%, n = 14/15) with available data. No tumors were identified macroscopically; however, an ill-defined, grey-white, firm area was noted in one orchiectomy specimen. Microscopically, tumor cells were seen in intertubular spaces as dispersed individual cells or small clusters. Tumor cells were round to polygonal with large nuclei and prominent nucleoli. Mild to moderate lymphocytic infiltrates were seen admixed with tumor cells in 40% (n = 6/15) of the tumors. GCNIS was present in association with most PITS (73%, n = 11/15). Tubular atrophy with thickening of the basement membrane and Leydig cell hyperplasia was observed in one tumor. Thirty-three percent (n = 5/15) of the tumors showed pagetoid involvement of rete testis, including the tumor with metastasis. All tumors showed the classical immunohistochemical profile of seminoma, with PLAP, c-KIT, OCT3/4, D2-40 and SALL4 positivity. PITS can be clinically &amp; pathologically inconspicuous, difficult to stage and liable to be misdiagnosed especially if presented with metastasis. Despite the inconspicuousness, PITS may represent an aggressive growth pattern of seminoma with the propensity for rete testis invasion.</div></div>","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":"153 ","pages":"Article 105667"},"PeriodicalIF":2.7,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142285997","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Inside front cover - Masthead","authors":"","doi":"10.1016/S0046-8177(24)00167-9","DOIUrl":"10.1016/S0046-8177(24)00167-9","url":null,"abstract":"","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":"152 ","pages":"Article 105658"},"PeriodicalIF":2.7,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142171723","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Information for Authors","authors":"","doi":"10.1016/S0046-8177(24)00170-9","DOIUrl":"10.1016/S0046-8177(24)00170-9","url":null,"abstract":"","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":"152 ","pages":"Article 105661"},"PeriodicalIF":2.7,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142171726","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Expanding the spectrum of fusion partners for cystic TFE3-rearranged renal cell carcinomas: A report of a MAPK1IP1L::TFE3-rearranged renal cell carcinoma.","authors":"Burak Tekin, Ruqin Chen, Rumeal D Whaley, Jordan P Reynolds, Hussam Al-Kateb, John C Cheville, Sounak Gupta","doi":"10.1016/j.humpath.2024.105654","DOIUrl":"https://doi.org/10.1016/j.humpath.2024.105654","url":null,"abstract":"","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":" ","pages":"105654"},"PeriodicalIF":2.7,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142285908","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Glutamine synthetase staining patterns in cirrhosis","authors":"Eric D. Nguyen,&nbsp;Chien-Kuang Cornelia Ding,&nbsp;Sarah E. Umetsu,&nbsp;Linda D. Ferrell,&nbsp;Kwun Wah Wen","doi":"10.1016/j.humpath.2024.105655","DOIUrl":"10.1016/j.humpath.2024.105655","url":null,"abstract":"<div><p>Advanced liver fibrosis can regress following the elimination of causative injuries. Glutamine synthetase (GS) immunohistochemical expression is normally in centrizonal perivenular hepatocytes but can be present in periportal hepatocytes in cases of regressed cirrhosis. This study identified periportal staining and investigated the spectrum of GS staining patterns seen in a range of cirrhotic livers with varying disease processes. The hematoxylin and eosin and GS-stained slides of 88 liver resection/explant specimens with advanced fibrosis cases by different causes were reviewed, and trichrome and orcein stains were used to classify cases as progressive, indeterminate, or regressive. Periportal GS staining was seen in 97% of regressive cases and 84% progressive or indeterminate cases. Liver resection specimens with periportal GS staining showed a variety of patterns, including predominantly perivenular, predominantly periseptal, and perinodular staining. The GS periseptal pattern is more common in regressed cirrhosis compared to progressive cases. The perinodular staining was seen in 16 cases resulting from various etiologies, including biliary atresia, steatotic liver disease, primary biliary cholangitis, and viral hepatitis, 75% of which demonstrated cholestasis. This study further subclassified GS staining patterns of “periportal” pattern in cirrhotic liver. Compared to orcein/trichrome staining, GS immunohistochemical staining is not as useful in distinguishing regressed cases from non-regressed cases.</p></div>","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":"153 ","pages":"Article 105655"},"PeriodicalIF":2.7,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142153885","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fluorescence in-situ hybridization assessment of spindle cell-rich testicular sex cord stromal tumors demonstrates multiple chromosomal gains across histologic subtypes","authors":"Andres Martin Acosta ,&nbsp;Christopher D.M. Fletcher ,&nbsp;Lynette M. Sholl ,&nbsp;Geert JLH. van Leenders ,&nbsp;Esther Oliva ,&nbsp;Kristine M. Cornejo ,&nbsp;Federico Repetto ,&nbsp;Katrina Collins ,&nbsp;Muhammad T. Idrees ,&nbsp;Michelle S. Hirsch ,&nbsp;Kiril Trpkov ,&nbsp;Thomas M. Ulbright ,&nbsp;Julia A. Bridge","doi":"10.1016/j.humpath.2024.105652","DOIUrl":"10.1016/j.humpath.2024.105652","url":null,"abstract":"<div><p>Spindle cell-rich testicular sex cord-stromal tumors (TSCSTs) comprise a group that includes mostly (but not exclusively): myoid gonadal stromal tumor (MGST), adult granulosa cell tumor (AGCT), and unclassified TSCST. These entities demonstrate histopathologic overlap, and prior genomic studies have failed to identify specific oncogenic drivers. Results of DNA sequencing suggest that different types of spindle cell-rich TSCSTs harbor a recurrent pattern of chromosomal gains. However, these results have not been validated by alternative methods and the extent of these changes within individual tumors remains unknown. We used a combination of commercially available fluorescence in-situ hybridization (FISH) probes (3q11.2, 6p24.3, 6q11.1, 6q23, 7q11.21-q11.22, 9p21.3, 11q13.3, 17p11.2) to enumerate a subset of chromosomes identified as altered (gained) in prior studies. We analyzed 10 cases (3 MGST, 4 unclassified TSCST, 3 AGCT), including 7 that had been previously sequenced. FISH demonstrated gains of chromosomes 3, 6, 7, 9, and 11 above the pre-established threshold (25%) in 50%, 80%, 70%, 20%, and 40% of cases, respectively, with gains of chromosome 17 being present in only 1 unclassified TSCST. The proportion of cells with chromosomal gains ranged from 26% to 60%. Tumors with available copy number data from prior genomic analyses showed a partial discordance between FISH and sequencing results. This study demonstrates that spindle-cell rich TSCSTs harbor a recurrent pattern of chromosomal gains, which are present in variable subsets of neoplastic cells. Further studies are needed to determine if these chromosomal changes represent a mechanism relevant for oncogenesis or a secondary event.</p></div>","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":"153 ","pages":"Article 105652"},"PeriodicalIF":2.7,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142106926","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hairy cell leukemia with an atypical extranodal presentation: A clinicopathological analysis of four cases","authors":"Valentina Sangiorgio ,&nbsp;Andrea Palasciano ,&nbsp;Valentina Tabanelli ,&nbsp;Eva Giné ,&nbsp;Luca Guerra ,&nbsp;Fabio Pagni ,&nbsp;Alessandra Casiraghi ,&nbsp;Ivana Casaroli ,&nbsp;Gerard Frigola ,&nbsp;Laura Magnano ,&nbsp;Carlo Gambacorti-Passerini ,&nbsp;Enrico Derenzini ,&nbsp;Anna Vanazzi ,&nbsp;Elias Campo","doi":"10.1016/j.humpath.2024.105651","DOIUrl":"10.1016/j.humpath.2024.105651","url":null,"abstract":"","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":"152 ","pages":"Article 105651"},"PeriodicalIF":2.7,"publicationDate":"2024-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142094977","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Gradual telomere shortening in the tumorigenesis of pancreatic and hepatic mucinous cystic neoplasms","authors":"You-Na Sung ,&nbsp;Marija Stojanova ,&nbsp;Seungbeom Shin ,&nbsp;HyungJun Cho ,&nbsp;Christopher M. Heaphy ,&nbsp;Seung-Mo Hong","doi":"10.1016/j.humpath.2024.105653","DOIUrl":"10.1016/j.humpath.2024.105653","url":null,"abstract":"<div><p>Mucinous cystic neoplasm (MCN) is one of the precursor lesions of pancreatic ductal adenocarcinoma and intrahepatic cholangiocarcinoma. The aim of this study is to examine the presence of short telomeres in promoting the tumorigenesis of MCN by measuring telomere lengths in distinct components of MCN, including the mucinous lining epithelium, non-mucinous lining epithelium, and ovarian-type stroma. A total of 45 patients with MCN (30 pancreatic and 15 hepatic cases) were obtained. Quantitative telomere-specific fluorescent in situ hybridization was performed to measure the telomere length of specific cell types within MCNs, including mucinous lining epithelium, non-mucinous lining epithelium, and ovarian-type stroma, as well as normal ductal epithelium and adenocarcinoma. Relative telomere lengths tended to decrease between normal ductal epithelium, ovarian-type stroma, non-mucinous lining epithelium, mucinous lining epithelium, and adenocarcinoma regardless of the involved organs. Among the analyzed cell types, relative telomere lengths were significantly different between normal ductal epithelium (3.31 ± 0.78), ovarian-type stroma (2.90 ± 0.93), non-mucinous lining epithelium (2.84 ± 0.79), mucinous lining epithelium (2.49 ± 0.93), and adenocarcinoma (1.19 ± 0.59), respectively (P &lt; 0.001, mixed-effects model). As expected, no difference in relative telomere lengths was observed between normal ductal epithelium and ovarian-type stroma; however, significant differences were observed in pair-wise comparisons between ovarian-type stroma vs. non-mucinous lining epithelium (P = 0.001), non-mucinous lining epithelium vs. mucinous lining epithelium (P = 0.005), and mucinous lining epithelium vs. adenocarcinoma (P &lt; 0.001). These findings suggest gradual telomere shortening occurs in the tumorigenesis of MCN, which may have important implications for the progression of this disease.</p></div>","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":"152 ","pages":"Article 105653"},"PeriodicalIF":2.7,"publicationDate":"2024-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142094978","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genomic analysis reveals molecular characterization of CD30+ and CD30− extranodal natural killer/T-cell lymphomas (ENKTLs)","authors":"Xiaoying Zhang ,&nbsp;Ke Liang ,&nbsp;Haiyan Chen ,&nbsp;Long Liu ,&nbsp;Ruirui Liu ,&nbsp;Chunxue Wang ,&nbsp;Cuijuan Zhang","doi":"10.1016/j.humpath.2024.105650","DOIUrl":"10.1016/j.humpath.2024.105650","url":null,"abstract":"<div><p>Extranodal natural killer (NK)/T-cell lymphoma (ENKTL) is prevalent in the Asian population; however, little is known about its molecular characteristics. In this study, we examined the CD30 expression in ENKTLs and then performed whole exome sequencing on ten CD30⁺ ENKTL and CD30⁻ ENKTL paired samples. CD30 was positive in 55.74% of the ENKTLs. Single nucleotide and insertion/deletion polymorphism analyses revealed that 53.41% of the somatic mutations in CD30⁺ ENKTLs were shared with CD30⁻ ENKTLs, including mutations in <em>SERPINA9</em>, <em>MEGF6</em>, <em>MUC6</em>, and <em>KDM5A</em>. Frequently mutated genes were primarily associated with cell proliferation and migration, the tumor microenvironment, energy and metabolism, epigenetic modulators, vascular remodeling, and neurological function. PI3K-AKT, cAMP, cGMP-PKG, and AMPK pathways were enriched in both CD30⁺ and CD30⁻ ENKTLs. Copy number variation analysis identified a unique set of genes in CD30⁺ ENKTLs, including T-cell receptor genes (<em>TRBV6-1</em> and <em>TRBV8</em>), cell cycle-related genes (<em>MYC</em> and <em>CCND3</em>), immune-related genes (<em>GPS2</em>, <em>IFNA14</em>, <em>TTC38</em>, and <em>CTSV</em>), and a large number of ubiquitination-related genes (<em>USP32</em>, <em>TRIM23</em>, <em>TRIM2</em>, <em>DUSP7</em>, and <em>UBE2QL1</em>). <em>BCL10</em> mutation was identified in 6/10 CD30⁺ ENKTLs and 7/10 CD30⁻ ENKTLs. Immunohistochemical analysis revealed that the expression pattern of BCL10 in normal lymphoid tissues was similar to that of BCL2; however, its expression in ENKTL cells was significantly higher (67.92% vs. 16.98%), implying the potential application of BCL10 inhibitors for treating ENKTLs. These results provide new insights into the genetic characteristics of CD30⁺ and CD30⁻ ENKTLs, and could facilitate the clinical development of novel therapies for ENKTL.</p></div>","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":"152 ","pages":"Article 105650"},"PeriodicalIF":2.7,"publicationDate":"2024-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142072585","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}