Human Pathology Reports最新文献

{"title":"IgG4-related inflammatory pseudotumour of the gallbladder in acute cholecystitis","authors":"Walter Santucci ,&nbsp;Philip Lee ,&nbsp;Rosanne Devadas ,&nbsp;Henry To","doi":"10.1016/j.hpr.2023.300712","DOIUrl":"https://doi.org/10.1016/j.hpr.2023.300712","url":null,"abstract":"<div><p>Immunoglobulin G4 related pseudotumour (IgG4-PT) of the gallbladder is a very rare condition formed by the infiltration of IgG4-positive lymphocytes and plasma cells, resulting in a mass effect that can mimic malignancy. We present a case of a patient who underwent an unremarkable laparoscopic cholecystectomy for symptoms of early cholecystitis that was incidentally found to have an inflammatory tumour adjacent to the cystic duct. Identification remains difficult and histopathology remains a cornerstone in correct diagnosis. Histopathological confirmation is based on meeting two of three histological criteria in the correct clinical context. IgG4-PT is a rare cause of cholecystitis and requires ongoing surveillance for IgG4 cholangiopathy.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"33 ","pages":"Article 300712"},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49890091","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":"A giant placental mass masquerading as an acardiac twin","authors":"Lavisha S. Punjabi ,&nbsp;Kai Zhi Ong ,&nbsp;Ryan Wai Kheong Lee ,&nbsp;Khurshid Merchant","doi":"10.1016/j.hpr.2023.300714","DOIUrl":"https://doi.org/10.1016/j.hpr.2023.300714","url":null,"abstract":"<div><h3>Background</h3><p>Chorangioma is a benign vascular tumour of the placenta. Majority of tumours are small and incidental. Large chorangiomas (colloquially “giant chorangiomas”) are relatively uncommon. Case report: A primiparous woman, booked at an external institution, presented at 32 + 2 weeks of gestation with abdominal pain. Ultrasound scan showed a thick placenta and features worrisome for fetal anemia. The patient underwent emergency caesarean section in view of non-reassuring fetal status. At delivery, there was a large mass adherent to the placenta, raising the clinical possibility of an acardiac twin. Histopathological examination showed a singleton placenta and a multinodular proliferation of capillaries with nucleated erythrocytes, which established the diagnosis of a giant chorangioma with evidence of fetal anemia. Baseline investigations of the neonate showed anemia and thrombocytopenia, complicated by cardiomegaly and hepatomegaly. Conclusion: Although histologically benign, large chorangiomas may be associated with adverse clinical outcomes for the fetus. Given their large size, they may clinically masquerade as acardius amorphous, especially if antenatal history or follow up is limited or absent.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"33 ","pages":"Article 300714"},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49890094","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 triple thyroid neoplasms with unique molecular alterations: A rare case report","authors":"Xiaoyan Liao ,&nbsp;Zoltán N. Oltvai ,&nbsp;Dongwei Zhang","doi":"10.1016/j.hpr.2023.300709","DOIUrl":"https://doi.org/10.1016/j.hpr.2023.300709","url":null,"abstract":"<div><p>Papillary thyroid carcinoma (PTC) and follicular thyroid carcinoma are common subtypes of thyroid cancer, while hyalinizing trabecular tumor (HHT) of the thyroid is a rare peculiar type of follicular cell neoplasm. Although all three tumor types originate from thyroid follicular cells, the frequency of their co-presence in the same thyroid gland is unknown. Herein, we describe an extremely rare case with three types of concurrent thyroid neoplasms in one patient. This patient was a 60-year-old female who presented with large symptomatic multinodular goiter clinically. Fine needle aspiration of the right thyroid nodule showed atypia of undetermined significance. She then received total thyroidectomy. Microscopically, there were 3 types of tumors identified: multifocal (x4) PTC (largest focus 1.5 cm) with focal tall cell features, encapsulated angioinvasive oncocytic carcinoma (8.2 cm), and a small HHT (0.6 cm). The HHT was encapsulated, containing spindled to polygonal cells with oval to elongated nuclei arranged in a trabecular growth pattern. The PTC and oncocytic carcinoma were diagnosed by morphology only. The diagnosis of HHT was confirmed by immunohistochemistry showing the tumor cells to be positive for pan-cytokeratin, thyroglobulin, TTF-1, and PAX8, while negative for synaptophysin, chromogranin, and calcitonin. Next generation sequencing demonstrated different molecular alterations: <em>BRAF V600E</em> mutation in PTC; <em>NRAS</em> mutation in oncocytic carcinoma, and <em>HRAS</em> mutation in HHT. This is the first case report of triple thyroid neoplasms occurring synchronously in one patient. The unique genetic alteration of each individual tumor suggests different pathogenetic mechanisms.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"33 ","pages":"Article 300709"},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49890095","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":"Anaplastic lymphoma kinase-positive anaplastic large cell lymphoma diagnosed in a 90-year-old Japanese woman with simultaneous rearrangements of T-cell receptor and immunoglobulin genes: A case report","authors":"Kenji Yorita ,&nbsp;Miki Mizobuchi ,&nbsp;Munenori Uemura ,&nbsp;Hironori Haga ,&nbsp;Takashi Takeda ,&nbsp;Katsushi Miyazaki ,&nbsp;Kazuhiko Tahara ,&nbsp;Satoshi Ito ,&nbsp;Kimiko Nakatani","doi":"10.1016/j.hpr.2023.300715","DOIUrl":"https://doi.org/10.1016/j.hpr.2023.300715","url":null,"abstract":"<div><p>Anaplastic lymphoma kinase-positive (ALK+) anaplastic large cell lymphoma (ALCL) is a T-cell lymphoma consisting of large lymphoid cells expressing ALK and CD30. It frequently occurs in patients younger than 30 years. However, this case reports a 90-year-old Japanese woman with ALK+ ALCL. The clinicopathological and genetic results of our case are presented. Although the clinical diagnosis suggested lymphoma with enlarged left supraclavicular and axillary lymph nodes and high levels of soluble interleukin 2 receptors, the initial pathological diagnosis suggested metastasis of undifferentiated carcinoma. This is attributed to the cohesive growth with fibrous stroma and immunohistochemical findings, which were positive for epithelial membrane antigen and negative for leukocyte common antigen. Additional immunohistochemistry revealed positivity for ALK and CD30, and Southern blot analysis demonstrated the rearrangement of T-cell receptor and immunoglobulin genes. Pathologists should include ALCL as a differential diagnosis when epithelial membrane antigen-positive large tumor cells lack pancytokeratins and leukocyte common antigen. Moreover, the occurrence of ALK+ ALCL should not be overlooked in older patients.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"33 ","pages":"Article 300715"},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49865940","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":"Intraductal papillary mucinous neoplasm (IPMN) of the pancreas that recurred as a ductal adenocarcinoma likely via intraductal spread: A case report and review of the literature","authors":"Hisashi Tamada ,&nbsp;Yasuko Fujita ,&nbsp;Kazuhiro Toriyama ,&nbsp;Masataka Haneda ,&nbsp;Seiji Natsume ,&nbsp;Nozomi Okuno ,&nbsp;Waki Hosoda","doi":"10.1016/j.hpr.2023.300718","DOIUrl":"https://doi.org/10.1016/j.hpr.2023.300718","url":null,"abstract":"<div><p>It is hypothesized that cells of intraductal papillary mucinous neoplasms (IPMNs) of the pancreas can move through the pancreatic duct and seed to form a new tumor (intraductal spread). Although this hypothesis typically refers to recurrent IPMNs in the remnant pancreas of patients who underwent operation for IPMN, studies providing sufficient evidence to prove this hypothesis are limited. Furthermore, if pancreatic ductal adenocarcinoma (PDAC) occurs in the remnant pancreas of patients who underwent complete resection for IPMN, any recurrence of PDAC with no associated IPMN is generally considered independent of prior IPMN. Here, we present a case of a minimally invasive IPMN occurring in the head of the pancreas that recurred as a PDAC in the tail of the pancreas ten years after the first operation for IPMN, likely via intraductal spread. Although the IPMN was surgically resected with negative margins and the recurrent adenocarcinoma did not accompany an IPMN, we found that both lesions shared an exceedingly rare <em>KRAS</em> mutation (p.A11delinsGGGV). Furthermore, we identified a microscopic, low-grade intraepithelial lesion in the main pancreatic duct adjacent to the adenocarcinoma that also harbored the same <em>KRAS</em> mutation. Immunohistochemically, the intraepithelial lesion retained SMAD4 expression, whereas the recurrent adenocarcinoma showed loss of SMAD4 expression, indicating that the intraepithelial lesion was a pancreatic intraepithelial neoplasia (PanIN) rather than adenocarcinoma (cancerization of the duct). These findings suggested that the initial IPMN, recurrent adenocarcinoma, and PanIN were clonally related, and intraductal spread of precursor neoplastic cells may have played a role in developing the adenocarcinoma. This case provides new insight into the process of how metachronous PDAC occurs in patients who undergo complete resection for IPMN.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"33 ","pages":"Article 300718"},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49890093","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":"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}