Human Pathology Reports最新文献

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Uterine cervical adenosquamous carcinoma with micropapillary components 具有微乳头状成分的子宫颈腺鳞癌
Human Pathology Reports Pub Date : 2023-09-01 DOI: 10.1016/j.hpr.2023.300710
Kenji Yorita , Koki Hirano , Takaaki Maeda
{"title":"Uterine cervical adenosquamous carcinoma with micropapillary components","authors":"Kenji Yorita ,&nbsp;Koki Hirano ,&nbsp;Takaaki Maeda","doi":"10.1016/j.hpr.2023.300710","DOIUrl":"https://doi.org/10.1016/j.hpr.2023.300710","url":null,"abstract":"<div><p>A 52-year-old Japanese woman was admitted to our hospital for uterine cervical cancer treatment. She had noticed irregular genital bleeding, and uterine cervical biopsy confirmed the presence of a squamous cell carcinoma (SqCC). Radical hysterectomy, bilateral salpingo-oophorectomy, and pelvic lymph node dissection were performed, and pathology confirmed adenosquamous carcinoma (ASC) at stage pT1b1pN1cM0 and stage IIIB. Interestingly, the adenocarcinoma components, which were approximately 5% of the ASC, were purely invasive micropapillary carcinoma (IMC) or IMC-like nests. The IMC and IMC-like components were seen at the invasive front connected to the squamous component. The patient underwent cisplatin-based concurrent chemoradiotherapy and has been disease-free for 1 year following the surgery. IMC is a histopathological type of adenocarcinoma of various organs, and uterine cervical IMCs have recently attracted attention as aggressive tumors. However, uterine cervical IMCs are rare and are not an independent entity in the latest 2020 World Health Organization’s classification of uterine cervical cancers. This case report describes the clinicopathological features of a patient with rare uterine cervical ASC and the curative potential of human epidermal growth factor receptor 2-targeting therapy.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"33 ","pages":"Article 300710"},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49890096","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
Development and relapse of nephrotic syndrome with thrombotic microangiopathy following repeated COVID-19 vaccination: A case report 反复接种COVID-19后肾病综合征伴血栓性微血管病的发生和复发:1例报告
Human Pathology Reports Pub Date : 2023-09-01 DOI: 10.1016/j.hpr.2023.300717
Dan Inoue, Muneharu Yamada, Ken Aoki, Mitsuya Mukae, Takashi Sakai, Takahiro Uchida, Tomohiro Tomiyasu, Takashi Oda
{"title":"Development and relapse of nephrotic syndrome with thrombotic microangiopathy following repeated COVID-19 vaccination: A case report","authors":"Dan Inoue,&nbsp;Muneharu Yamada,&nbsp;Ken Aoki,&nbsp;Mitsuya Mukae,&nbsp;Takashi Sakai,&nbsp;Takahiro Uchida,&nbsp;Tomohiro Tomiyasu,&nbsp;Takashi Oda","doi":"10.1016/j.hpr.2023.300717","DOIUrl":"https://doi.org/10.1016/j.hpr.2023.300717","url":null,"abstract":"<div><p>Here, we report the development and relapse of nephrotic syndrome, complicated by thrombotic microangiopathy (TMA), after repeated injections of the mRNA-1273 (Moderna) coronavirus disease 2019 (COVID-19) vaccine. A 50-year-old male patient was admitted for further examination and treatment 28 days after receiving the second dose of the vaccine. Laboratory tests revealed nephrotic-range proteinuria, microscopic hematuria, low platelet count, and mild anemia with decreased haptoglobin levels. Renal biopsy revealed subendothelial swelling, double contours of the glomerular basement membrane, and mesangiolysis, which suggested glomerular endothelial injury. Further immunohistochemical analysis revealed the presence of platelet thrombi by CD42b staining and glomerular endothelial injury with proliferation by CD34 staining with periodic acid-Schiff counterstaining or Ki67 staining. The patient was, therefore, clinically diagnosed with TMA. Angiotensin receptor blocker treatment gradually resulted in the resolution of the patient’s clinical symptoms. However, the patient relapsed with full nephrotic syndrome. His clinical manifestations even worsened 20 days after the third vaccine injection. The close association between repeated vaccinations and development and relapse of nephrotic syndrome with TMA strongly suggests a causal relationship between these conditions. Clinicians and pathologists should be aware that this vaccine could induce not only simple minimal change disease but also nephrotic syndrome with TMA.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"33 ","pages":"Article 300717"},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49890090","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
IgG4-related inflammatory pseudotumour of the gallbladder in acute cholecystitis 急性胆囊炎中igg4相关的胆囊炎性假瘤
Human Pathology Reports Pub Date : 2023-09-01 DOI: 10.1016/j.hpr.2023.300712
Walter Santucci , Philip Lee , Rosanne Devadas , Henry To
{"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}
引用次数: 0
A giant placental mass masquerading as an acardiac twin 一个巨大的胎盘团伪装成一个心脏双胞胎
Human Pathology Reports Pub Date : 2023-09-01 DOI: 10.1016/j.hpr.2023.300714
Lavisha S. Punjabi , Kai Zhi Ong , Ryan Wai Kheong Lee , Khurshid Merchant
{"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}
引用次数: 0
Synchronous triple thyroid neoplasms with unique molecular alterations: A rare case report 具有独特分子改变的同步三重甲状腺肿瘤:罕见病例报告
Human Pathology Reports Pub Date : 2023-09-01 DOI: 10.1016/j.hpr.2023.300709
Xiaoyan Liao , Zoltán N. Oltvai , Dongwei Zhang
{"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}
引用次数: 0
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 一名90岁日本妇女同时出现t细胞受体和免疫球蛋白基因重排,诊断为激酶阳性间变性大细胞淋巴瘤:一例报告
Human Pathology Reports Pub Date : 2023-09-01 DOI: 10.1016/j.hpr.2023.300715
Kenji Yorita , Miki Mizobuchi , Munenori Uemura , Hironori Haga , Takashi Takeda , Katsushi Miyazaki , Kazuhiko Tahara , Satoshi Ito , Kimiko Nakatani
{"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}
引用次数: 0
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 胰腺导管内乳头状粘液瘤(IPMN)可能通过导管内扩散复发为导管腺癌:1例报告和文献复习
Human Pathology Reports Pub Date : 2023-09-01 DOI: 10.1016/j.hpr.2023.300718
Hisashi Tamada , Yasuko Fujita , Kazuhiro Toriyama , Masataka Haneda , Seiji Natsume , Nozomi Okuno , Waki Hosoda
{"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}
引用次数: 0
Renal oncocytoma with vacuolated cells and giant mitochondria: Report of a rare tumor and review of the literature 肾嗜瘤细胞瘤伴空泡细胞及巨大线粒体:一例罕见肿瘤报告及文献复习
Human Pathology Reports Pub Date : 2023-09-01 DOI: 10.1016/j.hpr.2023.300719
Ashmi Patel , Jaden Aland , Haneen Salah , Luan D. Truong , David W. Goldfarb , Ziad M. El-Zaatari
{"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}
引用次数: 0
Hard to find and tricky to treat: A case series of acquired amegakaryocytic thrombocytopenia 难以发现和棘手的治疗:一例系列获得性无核细胞血小板减少症
Human Pathology Reports Pub Date : 2023-09-01 DOI: 10.1016/j.hpr.2023.300713
Amina Anwar , Zena Chahine , Dava Piecoro , Melissa Kesler , Ayman Qasrawi
{"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}
引用次数: 0
Identification of identical BAP1 mutations in a patient’s peritoneal mesothelioma and mucosal melanoma: A precision medicine case study 腹膜间皮瘤和粘膜黑色素瘤患者中相同BAP1突变的鉴定:一项精准医学案例研究
Human Pathology Reports Pub Date : 2023-06-01 DOI: 10.1016/j.hpr.2023.300705
Paul Zamiara , Ibrahim Elsharawi , Daniel Gaston , Ryan C. DeCoste , Eoghan Malone , Martin J. Bullock , Mathieu C. Castonguay , Michael D. Carter
{"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}
引用次数: 1
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