Human Pathology Reports最新文献

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Wide morphological spectrums of renal neoplasms with TSC/mTOR, NF2, or monoallelic MUTYH germline mutation 具有TSC/mTOR、NF2或单等位MUTYH种系突变的肾肿瘤的广泛形态学谱
Human Pathology Reports Pub Date : 2023-03-01 DOI: 10.1016/j.hpr.2023.300695
Yang Liu , Yue Fan , Runlin Feng , Luting Zhou , Yijin Gu , Lei Dong , Hongmei Yi , Xiaoqun Yang , Chaofu Wang
{"title":"Wide morphological spectrums of renal neoplasms with TSC/mTOR, NF2, or monoallelic MUTYH germline mutation","authors":"Yang Liu ,&nbsp;Yue Fan ,&nbsp;Runlin Feng ,&nbsp;Luting Zhou ,&nbsp;Yijin Gu ,&nbsp;Lei Dong ,&nbsp;Hongmei Yi ,&nbsp;Xiaoqun Yang ,&nbsp;Chaofu Wang","doi":"10.1016/j.hpr.2023.300695","DOIUrl":"https://doi.org/10.1016/j.hpr.2023.300695","url":null,"abstract":"<div><p>Advances in molecular biology techniques have led to the recognition of more molecularly defined renal entities. However, some molecular-defined renal cell carcinomas (RCC) exhibit heterogeneous morphologies. In recent years, <em>TSC</em>/<em>mTOR</em> and <em>NF2</em> alterations in renal cancers have attracted considerable attention from pathologists, including several renal tumors that have been validated as different entities. The monoallelic <em>MUTYH</em> germline mutation has also recently been demonstrated to be a driver of tumorigenesis, which is relatively enriched in renal cancers and may predict the risk of metastasis. In the current study, we presented seven cases with <em>TSC</em>/<em>mTOR</em> alterations (two with fibromyomatous stroma, one concomitant with <em>ELOC</em> mutation, three eosinophilic solid and cystic RCC, and two RCC, NOS), four cases with <em>NF2</em> mutations (one concomitant with <em>FH</em> mutation, one biphasic hyalinizing psammomatous RCC, and two RCC, NOS), and two cases with monoallelic <em>MUTYH</em> germline mutations (one collecting duct carcinoma and one papillary RCC). We observed that renal cancers harboring these mutations had a wide morphological spectrum. Renal neoplasms with <em>TSC</em>/<em>mTOR</em> mutations may have an indolent outcome. <em>NF2</em>-mutated RCC appeared to display calcification and sclerotic stroma. The identification of these renal cancers can help reduce the number of tumors diagnosed as RCC, NOS. However, whether they can be grouped into <em>TSC</em>/<em>mTOR</em>, <em>NF2</em>, or <em>MUTYH</em> -associated RCC requires further validation.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"31 ","pages":"Article 300695"},"PeriodicalIF":0.0,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49705735","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
High-grade ductal carcinoma in-situ detected by microcalcification within borderline phyllodes tumor: Report of a case and literature review 交界性叶状瘤内微钙化原位检测高级别导管癌1例报告并文献复习
Human Pathology Reports Pub Date : 2023-03-01 DOI: 10.1016/j.hpr.2023.300697
Wing Nam Yuen , Joshua J.X. Li , Man Yi Chan , Gary M. Tse
{"title":"High-grade ductal carcinoma in-situ detected by microcalcification within borderline phyllodes tumor: Report of a case and literature review","authors":"Wing Nam Yuen ,&nbsp;Joshua J.X. Li ,&nbsp;Man Yi Chan ,&nbsp;Gary M. Tse","doi":"10.1016/j.hpr.2023.300697","DOIUrl":"https://doi.org/10.1016/j.hpr.2023.300697","url":null,"abstract":"<div><h3>Introduction</h3><p>Phyllodes tumor is a rare biphasic neoplasm of the breast that mainly affects middle-aged women. Ductal carcinoma in-situ and microcalcifications occurring within phyllodes tumors are rare. Calcifications detected radiologically in this context have been reported but poorly characterized in previous studies.</p></div><div><h3>Case presentation</h3><p>We have encountered a case of a 42-year-old woman with high-grade ductal carcinoma in-situ within a borderline phyllodes tumor. Radiologically, clumps of coarse microcalcifications were detected within the lesion. Local excision followed by total mastectomy with axillary dissection was performed. No tumor recurrence has been detected for eight years.</p></div><div><h3>Conclusion</h3><p>The presence of microcalcification is reported in less than a third (29%) of phyllodes tumors with a carcinoma component. Both benign-looking specks and suspicious coarse punctate clusters of microcalcifications had been described. The presence of microcalcifications within a phyllodes tumor should alert clinicians and pathologists of possible coexisting carcinoma components. Primary surgical excision with adjuvant therapies remains the mainstay of treatment.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"31 ","pages":"Article 300697"},"PeriodicalIF":0.0,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49705737","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 significance of Cyclooxygenase-2 expression in colorectal adenoma and Adenocarcinoma: A clinicopathologic study 环氧化酶-2在结直肠腺瘤和腺癌中表达的预后意义:临床病理研究
Human Pathology Reports Pub Date : 2023-03-01 DOI: 10.1016/j.hpr.2023.300692
Noor I. Ibrahim , Shazana H. Shamsudin , Suk K. Lee , Sharifah Emilia T. Sharif
{"title":"Prognostic significance of Cyclooxygenase-2 expression in colorectal adenoma and Adenocarcinoma: A clinicopathologic study","authors":"Noor I. Ibrahim ,&nbsp;Shazana H. Shamsudin ,&nbsp;Suk K. Lee ,&nbsp;Sharifah Emilia T. Sharif","doi":"10.1016/j.hpr.2023.300692","DOIUrl":"https://doi.org/10.1016/j.hpr.2023.300692","url":null,"abstract":"<div><h3>Background</h3><p>A new prognostic biomarker for colorectal cancer (CRC) is imperative and cyclooxygenase-2 (COX-2) has the potential as a new candidate. We aimed to investigate the differential expression of COX-2 and its relationship with clinicopathological features of colorectal neoplasms.</p></div><div><h3>Methods</h3><p>We retrospectively investigate 91 cases of colorectal adenoma and 215 cases of adenocarcinoma by immunohistochemical assessment of COX-2 expression in the neoplastic epithelial and stromal cells. The differential COX-2 expression and its association with clinicopathological features was statistically evaluated.</p></div><div><h3>Results</h3><p>Significantly high expression of COX-2 was observed in the cytoplasm of the epithelial cells of adenocarcinoma (66.0 %) and stromal cells of adenoma (50.5 %), whilst low expression was seen in the stromal cells of adenocarcinoma (5.1 %) and epithelial cells of adenoma (26.4 %), (P &lt; 0.0005). The epithelial COX-2 overexpression of adenocarcinoma was significantly associated with moderate differentiation (p = 0.030), usual-type histology (p = 0.049), deeper invasion (p = 0.007), higher Astler Coller stage (p = 0.009), positive nodal metastasis (p = 0.011) and lymphovascular invasion (p = 0.005). In adenoma, high epithelial COX-2 expression showed significant association with advanced age (p = 0.008) and smaller adenoma (p = 0.034), while stromal COX-2 overexpression was significantly associated with low-grade dysplasia (p = 0.003). In the tumor microenvironment, COX-2 expression was observed mainly in the inflammatory cells, with weaker expression seen in the fibroblasts and vascular endothelial cells.</p></div><div><h3>Conclusion</h3><p>COX-2 overexpression is significantly associated with favorable characteristics of colorectal adenoma and advanced features of colorectal adenocarcinoma, thus portraying its potential as a prognostic biomarker for CRC detection.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"31 ","pages":"Article 300692"},"PeriodicalIF":0.0,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49705754","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
Pulmonary artery intimal sarcoma presenting as lung mass 肺动脉内膜肉瘤表现为肺肿块
Human Pathology Reports Pub Date : 2023-03-01 DOI: 10.1016/j.hpr.2023.300694
Aniza Hassan , Sarita Prabhakaran , Joanna Connor , Nicola Kingston , Sonja Klebe
{"title":"Pulmonary artery intimal sarcoma presenting as lung mass","authors":"Aniza Hassan ,&nbsp;Sarita Prabhakaran ,&nbsp;Joanna Connor ,&nbsp;Nicola Kingston ,&nbsp;Sonja Klebe","doi":"10.1016/j.hpr.2023.300694","DOIUrl":"https://doi.org/10.1016/j.hpr.2023.300694","url":null,"abstract":"<div><p>This report describes a case of incidental lung lesions, discovered during investigations for symptomatic aortic stenosis. The chest computed tomography pulmonary angiogram (CTPA) revealed the presence of two lung masses in the background of longstanding pulmonary thromboembolic disease. Left upper lobectomy was performed and the histopathological examination of the lung masses showed a high-grade spindle cells malignancy with areas showing tumour cells intraluminally in large and small vessels causing partial and complete luminal occlusion. The Fluorescence in situ hybridization (FISH) study showed Mouse double minute 2 homolog (MDM2) amplification, which was consistent with the diagnosis of Pulmonary Artery Intimal Sarcoma (PAS). We report the rare entity of PAS presenting as a lung mass and some potential pitfalls in diagnosis.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"31 ","pages":"Article 300694"},"PeriodicalIF":0.0,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49705740","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
Hidradenocarcinoma involving the male breast: Report of a case with emphasis on the differential diagnosis of invasive carcinoma with sweat gland differentiation 累及男性乳房的汗腺癌:报告1例,强调浸润性癌伴汗腺分化的鉴别诊断
Human Pathology Reports Pub Date : 2023-03-01 DOI: 10.1016/j.hpr.2023.300698
Eun Young Kang , Sarah B. Fisher , Lavinia P. Middleton
{"title":"Hidradenocarcinoma involving the male breast: Report of a case with emphasis on the differential diagnosis of invasive carcinoma with sweat gland differentiation","authors":"Eun Young Kang ,&nbsp;Sarah B. Fisher ,&nbsp;Lavinia P. Middleton","doi":"10.1016/j.hpr.2023.300698","DOIUrl":"https://doi.org/10.1016/j.hpr.2023.300698","url":null,"abstract":"<div><p>A 41-year-old male presented with a 2-month history of a palpable <em>peri</em>-areolar nodule in the right breast. The patient underwent an excisional biopsy, which revealed a solid and partially cystic mass in breast parenchyma with an infiltrative border characterized by a solid and papillary proliferation of cells with clear or eosinophilic cytoplasm demonstrating cytologic atypia, numerous mitotic figures (&gt;20/10 high-power fields), and areas of necrosis. Immunohistochemical analysis showed the tumor cells were faintly positive for p63, negative for SMMS, and strongly and diffusely positive for estrogen, progesterone, and androgen receptors. The tumor cells were equivocal for HER2 overexpression by immunohistochemistry and negative for <em>HER2</em> amplification by fluorescence in situ hybridization (FISH). Tumor cells were also negative for <em>MAML2</em> rearrangements by FISH. Diagnosis was consistent with hidradenocarcinoma. Preoperative staging with a mammogram, breast and axillary US, and breast MRI did not reveal evidence of residual tumor or metastases. The patient subsequently underwent a wide local excision and sentinel lymph node biopsy, which were negative for residual tumor. We report the first case of a hidradenocarcinoma of the breast originating in the deep breast parenchyma of a male patient and highlight the challenges in diagnosing this rare tumor, which can mimic a primary breast carcinoma.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"31 ","pages":"Article 300698"},"PeriodicalIF":0.0,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49705712","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
NUT carcinoma: A rare presentation of a chest mass with hypercalcemia in a pediatric patient NUT癌:小儿患者罕见的胸部肿块伴高钙血症
Human Pathology Reports Pub Date : 2023-03-01 DOI: 10.1016/j.hpr.2022.300689
Amanda K. Johnson , Travis Johnson , Katrina Winsnes , Jessica L. Davis
{"title":"NUT carcinoma: A rare presentation of a chest mass with hypercalcemia in a pediatric patient","authors":"Amanda K. Johnson ,&nbsp;Travis Johnson ,&nbsp;Katrina Winsnes ,&nbsp;Jessica L. Davis","doi":"10.1016/j.hpr.2022.300689","DOIUrl":"https://doi.org/10.1016/j.hpr.2022.300689","url":null,"abstract":"<div><p>The most common etiologies for chest masses in children include neurogenic tumors, germ cell tumors, leukemia/lymphoma and cysts <span>[1]</span>. Hypercalcemia of malignancy can complicate the clinical course, but is rare in children and most likely to occur in leukemia <span>[2]</span>. The following case illustrates a rare malignancy, NUT carcinoma, presenting as a mediastinal mass in a pediatric patient. The patient developed hypercalcemia, which further complicated the diagnosis. Due to the rapidly progressive nature of this malignancy as well as diagnostic challenges, the patient’s malignancy was not formally diagnosed until post-mortem autopsy molecular testing. This report adds to the body of literature of this rare tumor to assist with diagnosis, management, and treatment for future patients.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"31 ","pages":"Article 300689"},"PeriodicalIF":0.0,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49705829","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
EWSR1::NFATC2-rearranged sarcoma in bone-case report and review of the literature EWSR1::骨内nfatc2重排肉瘤病例报告及文献复习
Human Pathology Reports Pub Date : 2022-11-01 DOI: 10.1016/j.hpr.2022.300680
Muhammad Shaheen , L. Daniel Wurtz , Eric G. Brocken , Laura M. Warmke
{"title":"EWSR1::NFATC2-rearranged sarcoma in bone-case report and review of the literature","authors":"Muhammad Shaheen ,&nbsp;L. Daniel Wurtz ,&nbsp;Eric G. Brocken ,&nbsp;Laura M. Warmke","doi":"10.1016/j.hpr.2022.300680","DOIUrl":"10.1016/j.hpr.2022.300680","url":null,"abstract":"<div><p>Round cell sarcomas with <em>EWSR1</em>-non-ETS fusions are rare and entirely distinct from Ewing sarcoma with canonical fusion. Of these, <em>EWSR1</em>::<em>NFATC2</em>-rearranged sarcoma (ENS) has emerged as a distinct entity. Whereas few cases of ENS have been reported, clinical data regarding biologic behavior remain limited. In order to further characterize this rare sarcoma, we herein report a case of ENS arising in the tibia of a 21-year-old male, who initially presented with a several-year history of lower leg pain. Imaging showed a large, expansile and marrow-replacing lesion with focal cortical breakthrough. Biopsy showed monomorphic epithelioid and spindle cells with clear cell change, mimicking several entities including a myoepithelial tumor and perivascular epithelioid cell tumor (PEComa). Fluorescence in situ hybridization (FISH) was positive for <em>EWSR1</em> gene rearrangement with selective amplification of the 5′ probe, and next-generation sequencing confirmed the presence of a <em>EWSR1</em>::<em>NFATC2</em> translocation. The patient underwent radical resection of the tibial mass and showed no evidence of local recurrence or metastatic disease at 8 months post resection. Given the fully malignant potential of this tumor, knowledge of this rare entity is essential to ensure proper management and prevent misdiagnosis.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"30 ","pages":"Article 300680"},"PeriodicalIF":0.0,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772736X22000925/pdfft?md5=435edfd71be50d15f529ada0e7a0218e&pid=1-s2.0-S2772736X22000925-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73196419","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Leptin and leptin receptor expression in breast carcinomas and their relationship with clinicopathological features 瘦素和瘦素受体在乳腺癌中的表达及其与临床病理特征的关系
Human Pathology Reports Pub Date : 2022-11-01 DOI: 10.1016/j.hpr.2022.300676
Irem Atalay Karacay , Arsenal Sezgin Alikanoglu , Dinc Suren , Banu Ozturk , Baris R. Karakas , Cem Sezer
{"title":"Leptin and leptin receptor expression in breast carcinomas and their relationship with clinicopathological features","authors":"Irem Atalay Karacay ,&nbsp;Arsenal Sezgin Alikanoglu ,&nbsp;Dinc Suren ,&nbsp;Banu Ozturk ,&nbsp;Baris R. Karakas ,&nbsp;Cem Sezer","doi":"10.1016/j.hpr.2022.300676","DOIUrl":"10.1016/j.hpr.2022.300676","url":null,"abstract":"<div><h3>Context</h3><p>Breast cancer is the most common cancer and the most common cause of death from cancer among women. Leptin is thought to play role in cell proliferation.</p></div><div><h3>Objective</h3><p>In this study, we evaluated the expression of leptin and leptin receptor in breast cancer and normal breast tissue, analyzed the relationship between expression of leptin, leptin receptor and clinicopathological features in breast cancers.</p></div><div><h3>Materials and Methods</h3><p>The expression of leptin and leptin receptor were investigated by immunohistochemistry in 205 breast cancer and 30 normal breast tissue.</p></div><div><h3>Results</h3><p>Breast cancers showed higher expression of leptin (p = 0,003) and leptin receptor (p &lt; 0,001) than normal breast tissues. The expression of leptin showed significant correlation with leptin receptor expression (r = 0,644; p &lt; 0,001). Higher rates of ER and PR positivity are found in leptin positive tumors(p &lt; 0,001). Expression levels of leptin were positively corelated with ER (r = 0,336; p &lt; 0,001) and PR (r = 0,359; p &lt; 0,001) expression. HER2 positivity rates were lower in leptin positive tumors (p = 0,020). Negative correlation between leptin expression levels and histological grade was found (r = -0,168; p = 0,016). Higher rates of leptin receptor positivity were detected in invasive ductal carcinoma NSTs than invasive lobular carcinomas.</p></div><div><h3>Conclusion</h3><p>Elevated expressions of leptin and leptin receptor levels in breast cancer tissues suggest that leptin may have a promoting effect on the carcinogenesis of breast cancer, possibly in an autocrine manner. Inhibition of leptin may be effective for the treatment of breast cancer.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"30 ","pages":"Article 300676"},"PeriodicalIF":0.0,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772736X22000883/pdfft?md5=4b677f69ae7b87abdff943afd0fdc9a0&pid=1-s2.0-S2772736X22000883-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86654153","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Primary epithelioid angiosarcoma of the breast: A challenging diagnosis 乳腺原发性上皮样血管肉瘤:一个具有挑战性的诊断
Human Pathology Reports Pub Date : 2022-11-01 DOI: 10.1016/j.hpr.2022.300683
Sawsan Ismail , Mary Faddoul , Lama Faddoul , Nadim Zahlouk , Zuheir Alshehabi
{"title":"Primary epithelioid angiosarcoma of the breast: A challenging diagnosis","authors":"Sawsan Ismail ,&nbsp;Mary Faddoul ,&nbsp;Lama Faddoul ,&nbsp;Nadim Zahlouk ,&nbsp;Zuheir Alshehabi","doi":"10.1016/j.hpr.2022.300683","DOIUrl":"10.1016/j.hpr.2022.300683","url":null,"abstract":"<div><p>Breast angiosarcoma represents a rare aggressive neoplasm that constitutes less than 0.05% of all breast malignancies and less than 1% of all soft tissue sarcomas. Breast angiosarcomas are etiologically and clinically subdivided into primary and secondary angiosarcomas. Primary angiosarcoma is less common and develops at younger ages compared to secondary angiosarcoma. Epithelioid angiosarcoma is an exceedingly rare histological subtype that presents a diagnostic challenge due to morphological similarities with other malignancies. We present a case of a 66-year-old Syrian woman who presented to our hospital with a painless, palpable mass in her right breast, and no other complaints. She had undergone fine-needle aspiration cytology at another institution, by which she was diagnosed with invasive ductal carcinoma. The patient was subsequently referred to our hospital for further investigations. Physical examination revealed a mass in the inferior medial quarter of the right breast. Following detailed physical and radiological examinations, the patient underwent surgical excision of the lesion. Microscopic examination revealed a proliferation of large epithelioid cells with abundant eosinophilic cytoplasm that were forming slit-like vascular spaces. Areas of necrosis and hemorrhage were present. Immunohistochemical examinations confirmed the final diagnosis of an epithelioid angiosarcoma of the breast. This case highlights major challenges in diagnosing this rare entity in the presence of non-specific clinical and radiologic characteristics, and addresses pitfalls in cytological examinations and differential diagnostic considerations.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"30 ","pages":"Article 300683"},"PeriodicalIF":0.0,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772736X22000950/pdfft?md5=3ca8d2602e6018d650f8daa90811b90c&pid=1-s2.0-S2772736X22000950-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88405756","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Comprehensive histopathologic and genomic analysis of a novel case of lipoblastoma-like tumour of the vulva demonstrating malignant behaviour 综合组织病理学和基因组分析的一个新的病例脂肪母细胞瘤样肿瘤的外阴表现出恶性行为
Human Pathology Reports Pub Date : 2022-11-01 DOI: 10.1016/j.hpr.2022.300678
Jamie R. Kutasovic , Katia Nones , Vanessa Lakis , Lambros T. Koufariotis , Kaltin Ferguson , Amy E. McCart Reed , Peter T. Simpson , Sunil R. Lakhani , Helen Mar Fan , Megan Higgins , Janene Davies , Diane Payton , Lucinda Taege
{"title":"Comprehensive histopathologic and genomic analysis of a novel case of lipoblastoma-like tumour of the vulva demonstrating malignant behaviour","authors":"Jamie R. Kutasovic ,&nbsp;Katia Nones ,&nbsp;Vanessa Lakis ,&nbsp;Lambros T. Koufariotis ,&nbsp;Kaltin Ferguson ,&nbsp;Amy E. McCart Reed ,&nbsp;Peter T. Simpson ,&nbsp;Sunil R. Lakhani ,&nbsp;Helen Mar Fan ,&nbsp;Megan Higgins ,&nbsp;Janene Davies ,&nbsp;Diane Payton ,&nbsp;Lucinda Taege","doi":"10.1016/j.hpr.2022.300678","DOIUrl":"10.1016/j.hpr.2022.300678","url":null,"abstract":"<div><p>Lipoblastoma-like tumour of the vulva (LLTV) is a rare soft tissue neoplasm with only nineteen reported cases to date. The clinical behaviour in all cases has been benign, with a small number of local recurrences and no incidences of metastasis described. We present an unusual case of LLTV that arose in a 16-year-old female who subsequently developed histologically identical lesions in the breast, chest wall and retroperitoneum, over the course of three and a half years. Our comprehensive histopathological analysis and molecular genetic studies supported the diagnosis of LLTV, with absence of <em>DDIT3</em> rearrangement and absence of other specific diagnostic genetic events for any other soft tissue neoplasm. Whole exome sequencing was performed on the vulva, vulva recurrence, breast, and lung lesions and revealed a complex genome with striking similarity between the tumours. Multiple somatic mutations of interest were identified, including in <em>MTOR</em> and the <em>TERT</em> promoter, which enabled patient treatment with a specific inhibitor. To our knowledge, this is the first reported case of metastasising LLTV, and the first comprehensive genetic analysis of such a tumour.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"30 ","pages":"Article 300678"},"PeriodicalIF":0.0,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772736X22000901/pdfft?md5=330d7a93bb2c027493ea75159d1aad9d&pid=1-s2.0-S2772736X22000901-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72937148","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
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