Human Pathology Reports最新文献

{"title":"Renal oncocytoma with vacuolated cells and giant mitochondria: Report of a rare tumor and review of the literature","authors":"Ashmi Patel ,&nbsp;Jaden Aland ,&nbsp;Haneen Salah ,&nbsp;Luan D. Truong ,&nbsp;David W. Goldfarb ,&nbsp;Ziad M. El-Zaatari","doi":"10.1016/j.hpr.2023.300719","DOIUrl":"https://doi.org/10.1016/j.hpr.2023.300719","url":null,"abstract":"<div><p>Reports of renal oncocytoma with intracytoplasmic vacuoles are exceedingly rare. In addition to 5 prior reports, we present a novel case of renal oncocytoma with cytoplasmic vacuolation. A 69-year-old male patient underwent partial nephrectomy to remove the 3.8 cm tumor. Tumor cells showed typical morphologic and immunohistochemical features of renal oncocytoma, with the additional feature of diffuse, oval-round cytoplasmic vacuoles containing pale amphophilic material. Distinct eosinophilic cytoplasmic inclusions were also present, which were shown to be giant mitochondria on ultrastructural examination. Cytoplasmic vacuolation has been described in other renal tumors, namely succinate dehydrogenase deficient renal cell carcinoma and eosinophilic vacuolated tumor, both of which were ruled out in the current case. Our case is the first to confirm the presence of giant mitochondria in a vacuolated renal oncocytoma, and the second to associate mitochondria as the origin of these vacuoles. Future identification of additional cases would shed more insight on the etiology and pathobiological significance of this rare tumor morphology.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"33 ","pages":"Article 300719"},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49890088","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}

{"title":"Hard to find and tricky to treat: A case series of acquired amegakaryocytic thrombocytopenia","authors":"Amina Anwar ,&nbsp;Zena Chahine ,&nbsp;Dava Piecoro ,&nbsp;Melissa Kesler ,&nbsp;Ayman Qasrawi","doi":"10.1016/j.hpr.2023.300713","DOIUrl":"https://doi.org/10.1016/j.hpr.2023.300713","url":null,"abstract":"<div><p>Acquired amegakaryocytic thrombocytopenia (AAMT) is a rare hematological disorder characterized by prolonged, severe thrombocytopenia, and reduced megakaryocytes on otherwise normal bone marrow biopsy. We report three cases of which two ultimately responded to treatment with eltrombopag, and one who one succumbed to illness despite treatment with multiple agents. These cases emphasize the difficulty of diagnosis and treatment of this rare condition.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"33 ","pages":"Article 300713"},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49890092","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}

{"title":"Identification of identical BAP1 mutations in a patient’s peritoneal mesothelioma and mucosal melanoma: A precision medicine case study","authors":"Paul Zamiara ,&nbsp;Ibrahim Elsharawi ,&nbsp;Daniel Gaston ,&nbsp;Ryan C. DeCoste ,&nbsp;Eoghan Malone ,&nbsp;Martin J. Bullock ,&nbsp;Mathieu C. Castonguay ,&nbsp;Michael D. Carter","doi":"10.1016/j.hpr.2023.300705","DOIUrl":"https://doi.org/10.1016/j.hpr.2023.300705","url":null,"abstract":"<div><p>Biomarker testing has increasingly been adopted in oncology for diagnostic, prognostic, and predictive purposes. Several tumor types undergo reflexive biomarker testing, including immunohistochemistry and next generation sequencing (NGS), to screen for hereditary tumor predisposition syndromes and identify optimal treatment regimens. Routine clinical biomarker testing, however, does not identify less common hereditary cancer syndromes, which instead requires comprehensive genomic profiling (CGP). This report describes the case of a patient with occupational exposure to asbestos who developed peritoneal mesothelioma and experienced a dramatic response to platinum-based chemotherapy. Shortly thereafter, he was diagnosed with metastatic sinonasal melanoma. The uncommon co-occurrence of these two primary malignancies prompted analysis of the patient’s mesothelioma by CGP, which identified a pathogenic <em>BAP1</em> splice site mutation (c.438-1G &gt; A, NM_004656.4, 71 % allele frequency). The melanoma was subsequently evaluated using a clinical NGS panel and found to harbor the same mutation (84 % allele frequency), strongly suggesting that the pathogenic variant is present in the patient’s germline (diagnostic of <em>BAP1</em> tumor predisposition syndrome). These results enabled recommendation of germline testing and suggestion of active clinical trials of targeted therapy to the treating physician, highlighting the important role of CGP in the delivery of precision medicine.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"32 ","pages":"Article 300705"},"PeriodicalIF":0.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49853800","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}

{"title":"Thymic neuroendocrine cell tumor with blood‑filled caverns","authors":"Yuki Hanamatsu ,&nbsp;Chiemi Saigo ,&nbsp;Riko Niwa ,&nbsp;Yusuke Kito ,&nbsp;Hiroyasu Komuro ,&nbsp;Koyo Shirahashi ,&nbsp;Hisashi Iwata ,&nbsp;Tamotsu Takeuchi","doi":"10.1016/j.hpr.2023.300706","DOIUrl":"https://doi.org/10.1016/j.hpr.2023.300706","url":null,"abstract":"<div><p>Three cases of primary thymic neuroendocrine tumors resembling a vascular neoplasm were reported as “Angiomatoid neuroendocrine carcinoma of the thymus.” Recently, we encountered another case of a thymic neuroendocrine cell tumor that grossly mimicked a vascular neoplasm. A man in his early 60 s, who presented with right thoracic pain, was admitted to our hospital. He had a 45 × 35 mm vascular-rich tumor in the thymus and underwent total thymectomy. Histopathological examination revealed that the tumor was composed of many blood‑filled caverns lined with stratified conventional neuroendocrine tumor cells expressing insulinoma-associated protein 1 and synaptophysin immunoreactivity. Notably, the blood-filled caverns were not lined with CD31-positive endothelial cells, as previously reported. By contrast, the caverns were focally lined with cells expressing SRY-Box Transcription Factor 17, which is well characterized to drive the conversion of fibroblast progenitor cells to endothelial cells by its transcriptional property. However, SRY-Box Transcription Factor 17 immunoreactivity was not restricted to the nucleus in blood-filled caverns and was also detected in the nucleus of endothelial cells in tumor vessels in the canonical carcinoid area. Dismaturation of endothelial cells might participate in the angiomatoid features of thymic neuroendocrine cell tumors.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"32 ","pages":"Article 300706"},"PeriodicalIF":0.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49890830","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}

{"title":"Calcifying fibrous tumor of the esophagus: A case report with review of the pertinent literature","authors":"Abdullahi A. Sulaiman ,&nbsp;Hunter L. Monroe ,&nbsp;Dane C. Olevian,&nbsp;Tony El Jabbour","doi":"10.1016/j.hpr.2023.300704","DOIUrl":"https://doi.org/10.1016/j.hpr.2023.300704","url":null,"abstract":"<div><p>Calcifying fibrous tumors (CFTs) are benign mesenchymal lesions primary to many anatomic sites, but are commonly identified in the abdomen, particularly the luminal gastrointestinal (GI) tract, of young or middle-aged adults. The clinical presentation of CFTs is largely non-specific and relegated to the site of origin and, thus, they are often incidentally identified via radiology. CFTs are managed with minimally invasive surgical management and are associated with favorable long-term outcomes. Relative to other GI organs, CFTs arising from the esophagus are seldom reported and only described heretofore in occasional case reports. We report a symptomatic CFT of the upper thoracic esophagus with discussion of clinicopathologic features including radiology, histology and immunohistochemistry and formulation of a differential diagnosis pertinent to mesenchymal tumors of the esophagus that may mimic CFTs. A brief review of other rare reports of esophageal CFTs is also provided.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"32 ","pages":"Article 300704"},"PeriodicalIF":0.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49853671","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}

{"title":"Metastatic choroidal melanoma to a follicular adenoma of the thyroid: A case of tumour-to-tumour metastasis","authors":"Chiao Lin,&nbsp;Daniel James,&nbsp;Fiona Tang","doi":"10.1016/j.hpr.2023.300701","DOIUrl":"https://doi.org/10.1016/j.hpr.2023.300701","url":null,"abstract":"<div><p>Thyroid metastasis from uveal melanoma is a rare occurrence. We report the case of a 56-year-old woman who was diagnosed with choroidal melanoma, and treated with photodynamic therapy and plaque brachytherapy. An incidental right thyroid lesion was detected during her initial diagnostic workup, for which she subsequently underwent a hemithyroidectomy. Histological examination showed a follicular adenoma containing multiple foci of metastatic choroidal melanoma, representing a unique case of tumour-to-tumour metastasis from a choroidal melanoma to a follicular adenoma of the thyroid. This case highlights the importance of considering metastatic disease as a differential for thyroid lesions arising in patients with a history of malignancy.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"32 ","pages":"Article 300701"},"PeriodicalIF":0.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49853797","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}

{"title":"Ductal adenoma with AKT1 and EGFR mutations: Report of a case and review of literature","authors":"Nejla Gümüs ,&nbsp;Xavier Catteau ,&nbsp;Jean-Christophe Noël","doi":"10.1016/j.hpr.2023.300700","DOIUrl":"https://doi.org/10.1016/j.hpr.2023.300700","url":null,"abstract":"<div><h3>Background</h3><p>A ductal adenoma is a rare benign epithelial tumour of the breast. Its origin is unclear, but some authors consider that they arise from intraductal papilloma that undergoes sclerosis and lose their papillary architecture.</p></div><div><h3>Case presentation</h3><p>A 43-year-old woman presented a palpable mass in the right breast. Mammography revealed a well-demarcated nodule of 9 mm. Histological examination showed a nodular proliferation of glands without papillary structures circumscribed by a dense fibrous wall. Glandular tubules were round or ovoid. The epithelial cells showed no atypia and mitosis were absent. Gene mutation testing has been performed.</p></div><div><h3>Conclusion</h3><p>To the best of our knowledge, we reported the first case of a ductal adenoma with <em>AKT1</em> and <em>EGFR</em> mutations. We also reviewed the literature concerning the molecular profile of ductal adenoma and papillary lesions.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"32 ","pages":"Article 300700"},"PeriodicalIF":0.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49853799","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}

{"title":"Synchronous occurrence of primary mucinous carcinoma of recto-sigmoid colon and primary breast Carcinoma: A case report and review of literature","authors":"Taha A. Baiomy ,&nbsp;Mahmoud Sherbiny ,&nbsp;Ahmed Lotfy Sharaf ,&nbsp;Ola A. Harb ,&nbsp;Fouad AbuTaleb","doi":"10.1016/j.hpr.2023.300702","DOIUrl":"https://doi.org/10.1016/j.hpr.2023.300702","url":null,"abstract":"<div><h3>Background</h3><p>Multiple primary malignant tumors (MPMTs) is simultaneous occurrence of two or more malignancies in different sites with different histopathological type and origin.</p><p>Diagnosis and management of those patients are challenging due to uncertain guidelines.</p></div><div><h3>Case Presentation</h3><p>A 63-year-old postmenopausal female patient of synchronous MPMTs in which the patient was diagnosed with a malignant mass in recto-sigmoid colon and a synchronous breast cancer was incidentally discovered during clinical and radiological patient evaluation.</p></div><div><h3>Treatment</h3><p>Both colon procedure and breast procedure were performed together in one setting. The anterior resection of the reco-sigmoid mass and colocolonic anastomosis were done.</p></div><div><h3>Conclusion</h3><p>Synchronous colon and breast cancer treatment plan should be individualized for each patient through a complete preoperative evaluation and MDT meeting to provide the best possible treatment for the patient.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"32 ","pages":"Article 300702"},"PeriodicalIF":0.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49853801","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}

{"title":"Odontogenic myxoma in childhood","authors":"Ana Cláudia Garcia Rosa ,&nbsp;Cristiano Abdalla Rosa ,&nbsp;Eduardo Zambaldi da Cruz ,&nbsp;Fabiana Ferreira Alves ,&nbsp;André Machado de Senna","doi":"10.1016/j.hpr.2023.300707","DOIUrl":"https://doi.org/10.1016/j.hpr.2023.300707","url":null,"abstract":"<div><p>Odontogenic myxoma is a benign odontogenic tumor of ectomesenchymal origin. In adults, it is the third most frequent odontogenic tumor, but in children, this tumor is uncommon. This paper aims to report an uncommon case of an odontogenic myxoma in a 10-year-old girl. The patient was referred to a children's hospital presenting with asymptomatic facial asymmetry, noticed six months earlier. Intraoral examination showed a tumoral lesion in the right posterior maxillary region, with an expansion of the buccal bone plate, without ulceration or mucosal color change. Computed tomography revealed a hypodense lesion with extensive bone involvement in the right maxillary region, with the displacement of the tooth germ of the upper right third molar, involving the maxillary sinus, orbital floor, and nasal cavity. An incisional biopsy was performed. Gross examination revealed a grayish-white lesion, with a firm-elastic consistency. The histological sections revealed a non-encapsulated neoplasm formed by spherical and spindle-shaped cells, with a stellate arrangement in a myxoid stroma with variable amounts of collagen. There was no evidence of odontogenic epithelium. The diagnosis was odontogenic myxoma. An enucleation with vigorous curettage of the margins of the lesion was performed, and no recurrence was observed in two years of postoperative follow-up.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"32 ","pages":"Article 300707"},"PeriodicalIF":0.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49853670","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}

{"title":"Inflammatory fibroid polyp: A series of 29 cases and a systematic review of the literature","authors":"Andrea Maccagno ,&nbsp;Björn Sander ,&nbsp;Sebastian Dintner ,&nbsp;Manuela Harloff ,&nbsp;László Füzesi ,&nbsp;Bruno Märkl","doi":"10.1016/j.hpr.2023.300703","DOIUrl":"https://doi.org/10.1016/j.hpr.2023.300703","url":null,"abstract":"<div><p>An inflammatory fibroid polyp (IFP) of the gastrointestinal tract is a localized, benign mesenchymal lesion consisting of spindle-shaped stromal cells, eosinophilic granulocytes, and some lymphocytes and plasma cells. The discovery of a frequent mutation of the platelet-derived growth factor receptor A (<em>PDGFRA</em>) gene was the first hint of a gene-regulating process in IFPs. The aim of this study was to investigate the interaction of inflammatory processes and the role of mutation and expression of the <em>PDGFRA</em> gene in the development of IFPs for the first time. We used immunohistochemistry to analyze the composition of inflammatory cells and next generation sequencing (NGS) to provide a broad overview of gene mutations.</p><p>We report on 29 cases of IFP. The mean age, gender differences, and localization were compatible with the literature. Spindle cell histomorphology was present in 79% of cases showing a typical onion skin-like perivascular arrangement and significantly high CD34 positivity (p = 0.002, Fisher’s exact test). Eosinophilic granulocytes were present in an average density of 60 ± 49/high power field (HPF) (range: 15–200), and there was a significantly higher rate of IFPs larger than 2 cm in size (p = 0.018, Wilcoxon test). All but one cases could be analyzed by NGS. Mutations were observed in 17 cases (60.7%), including 13 (46.4%) mutations in the <em>PDGFRA</em> gene. Among the gastric lesions, mutations were found in exon 18 of the <em>PDGFRA</em> gene with amino acid exchange (Asp842Val) for eight out of 10 cases and in exon 12 in two cases. All three cases in the small intestine revealed mutation of the <em>PDGFRA</em> gene in exon 12. We found no <em>PDGFRA</em> mutation in our colonic cases. <em>PDGFRA</em> expression was significantly correlated with mutations of the same gene (p = 0.005, Fisher’s exact test) and especially with mutations in exon 12 of the same gene (p &lt; 0.001, Fisher’s exact test). Interestingly, three of our cases (10.3%) without mutation or expression of the <em>PDGFRA</em> gene revealed an unusually high concentration of IgG-positive plasma cells (average: 140 ± 26/HPF, range: 110–160) and IgG4-positive plasma cells (average: 87 ± 21/HPF, range: 60–100). For comparison, an IgG4/IgG ratio of more than 0.4 is commonly observed in IgG4-related diseases. Our molecular results were in accordance with 113 genetically analyzed cases published to date. There was a correlation between the IFP site and mutation variants of the <em>PDGFRA</em> gene. IFPs were localized in the stomach in 49.1% of cases, in the small intestine in 47.3%, and in the colon in 3.6%. Exon 12 of the <em>PDGFRA</em> gene was mutated in 41.1% of cases and primarily occurred in the small intestine (82.6%). Exon 18 was mutated in 22.3% of cases and primarily occurred in the stomach (80.0%). The mutated codon interval 566–571 in exon 12 and codon 842 in exon 18 were compatible, as observed in a gastrointestinal stromal ","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"32 ","pages":"Article 300703"},"PeriodicalIF":0.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49853668","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}