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Adamantinoma of the Femur With High-Grade Epithelial and Sarcomatoid Components: Case Report and Review of the Literature 具有高级别上皮和肉瘤样成分的股骨金刚烷瘤:病例报告和文献回顾
IF 0.2
AJSP-Reviews and Reports Pub Date : 2020-01-01 DOI: 10.1097/PCR.0000000000000359
Nima Sharifai, R. Runyon, M. Friedman, C. Cipriano, J. Chrisinger
{"title":"Adamantinoma of the Femur With High-Grade Epithelial and Sarcomatoid Components: Case Report and Review of the Literature","authors":"Nima Sharifai, R. Runyon, M. Friedman, C. Cipriano, J. Chrisinger","doi":"10.1097/PCR.0000000000000359","DOIUrl":"https://doi.org/10.1097/PCR.0000000000000359","url":null,"abstract":"\u0000 Adamantinomas are rare low-grade malignant bone tumors that are composed of epithelial cells set in an osteofibrous stroma. Osteofibrous dysplasia-like and classic forms are well known; however, sarcomatous transformation (dedifferentiation) is very rarely observed. We present the case of a 48-year-old woman who presented with a 5-cm proximal femoral lytic lesion at risk of pathologic fracture. Frozen-section evaluation demonstrated an intimate admixture of atypical squamous nests and spindle cells, consistent with metastatic sarcomatoid carcinoma, so prophylactic intramedullary nailing was completed. Postoperative clinical and radiologic evaluation failed to identify a primary carcinoma, and short-term follow-up demonstrated rapid tumor spread throughout the femur and thigh. The patient underwent hip disarticulation, and microscopic examination demonstrated areas of classic adamantinoma associated with both high-grade epithelial and sarcomatoid components. Diffuse metastatic spread was evident within seven months. Along with a description of this case, we review the clinical, radiographic, histologic, and immunophenotypic characteristics of the eight adamantinomas with high-grade sarcomatous transformation that have been previously reported in detail in the English literature, and discuss important considerations for differential diagnosis.","PeriodicalId":43475,"journal":{"name":"AJSP-Reviews and Reports","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80761713","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
Langerhans Cell Histiocytosis With Solitary Hepatic Involvement in an Adult Patient: Diagnosis, Transplantation, and Recurrence 成年患者朗格汉斯细胞组织细胞增多症伴孤立性肝脏受累:诊断、移植和复发
IF 0.2
AJSP-Reviews and Reports Pub Date : 2020-01-01 DOI: 10.1097/PCR.0000000000000358
N. Rush, R. Saxena, Jingmei Lin
{"title":"Langerhans Cell Histiocytosis With Solitary Hepatic Involvement in an Adult Patient: Diagnosis, Transplantation, and Recurrence","authors":"N. Rush, R. Saxena, Jingmei Lin","doi":"10.1097/PCR.0000000000000358","DOIUrl":"https://doi.org/10.1097/PCR.0000000000000358","url":null,"abstract":"\u0000 Langerhans cell histiocytosis (LCH) rarely involves the liver without systemic manifestations, especially in adult population. We describe an unusual case of LCH with solitary hepatic involvement. Histopathologic materials from both native and allograft specimens, including all biopsies, explant hepatectomies, and correlating clinical data accumulated over a 10-year interval, were reviewed. A 46-year-old woman presented with jaundice and pruritus. An initial workup including liver biopsy led to the diagnosis of antimitochondrial antibody–negative primary biliary cholangitis with advanced fibrosis. Within a year, the patient progressed to decompensated cirrhosis requiring transplantation. Her posttransplant course was complicated by frequent bouts of markedly elevated alkaline phosphatase and γ-glutamyl transferase with mild liver transaminases elevation. These abnormalities and the liver biopsy findings of bile duct injury and portal inflammation were thought to be acute cellular rejection. Her liver enzymes showed some improvement but never completely normalized on high-dose steroid and became elevated once the therapy stopped. Three years after transplantation, the diagnosis of LCH was established based on the histopathology and immunohistochemistry in the allograft biopsy. Four more years later, the patient lost the liver allograft and required a second transplantation. The explanted allograft revealed patchy distribution of the disease, confirming difficulty of LCH diagnosis on a liver biopsy without systemic involvement. For clinicians and pathologists, it is critical to exclude hepatic involvement by LCH before rending a diagnosis of antimitochondrial antibody–negative primary biliary cholangitis or small duct primary sclerosing cholangitis.","PeriodicalId":43475,"journal":{"name":"AJSP-Reviews and Reports","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76288994","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
Clear Cell Tumor of the Maxilla With MAML2 and EWSR1 Gene Rearrangements: A True Hybrid or a Flourescence in Situ Hybridization Fumble? 上颌透明细胞瘤伴MAML2和EWSR1基因重排:是真正的杂交还是荧光原位杂交?
IF 0.2
AJSP-Reviews and Reports Pub Date : 2020-01-01 DOI: 10.1097/PCR.0000000000000357
A. Hamza, Christopher M. K. L. Yao, S. Lai, D. Bell
{"title":"Clear Cell Tumor of the Maxilla With MAML2 and EWSR1 Gene Rearrangements: A True Hybrid or a Flourescence in Situ Hybridization Fumble?","authors":"A. Hamza, Christopher M. K. L. Yao, S. Lai, D. Bell","doi":"10.1097/PCR.0000000000000357","DOIUrl":"https://doi.org/10.1097/PCR.0000000000000357","url":null,"abstract":"\u0000 Clear cell odontogenic carcinoma and clear cell variant of mucoepidermoid carcinoma are rare and aggressive tumors that usually affect individuals in the fifth decade of life and have a predilection for the maxilla and mandible. Clear cell odontogenic carcinoma is characterized by EWSR1 gene rearrangement, whereas MAML 2 gene rearrangement is pathognomonic for mucoepidermoid carcinoma. Fluorescence in situ hybridization analysis for rearrangement of these genes can be extremely helpful in difficult cases when conventional histological distinction is not possible. Herein, we describe a unique case in which a 69-year-old man had an intraosseous maxillary tumor with clear cell morphology and fluorescence in situ hybridization analysis showing rearrangement of the MAML2 gene as well as a low-level rearrangement of the EWSR1 gene. In our opinion, this case represents a hybrid tumor harboring dual gene rearrangement.","PeriodicalId":43475,"journal":{"name":"AJSP-Reviews and Reports","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89727583","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: 2
Bilateral Multifocal Warthin Tumors Mimicking Metastatic Papillary Thyroid Carcinoma: A Rare Case Posing a Diagnostic Challenge 双侧多灶沃辛肿瘤模拟转移性甲状腺乳头状癌:一个罕见的病例提出诊断挑战
IF 0.2
AJSP-Reviews and Reports Pub Date : 2020-01-01 DOI: 10.1097/PCR.0000000000000356
Tanvee S. Kulkarni, Snehal Shah, S. Rane, A. Mahajan, M. Bal, R. Vaish, A. Patil
{"title":"Bilateral Multifocal Warthin Tumors Mimicking Metastatic Papillary Thyroid Carcinoma: A Rare Case Posing a Diagnostic Challenge","authors":"Tanvee S. Kulkarni, Snehal Shah, S. Rane, A. Mahajan, M. Bal, R. Vaish, A. Patil","doi":"10.1097/PCR.0000000000000356","DOIUrl":"https://doi.org/10.1097/PCR.0000000000000356","url":null,"abstract":"\u0000 Warthin tumor is the second most common benign tumor of parotid gland. It rarely may be multifocal and occur at extraparotid sites, most common being the cervical lymph nodes. Fine-needle aspirate cytology is diagnostic in most cases of parotid Warthin tumors; however, in extraparotid sites, the diagnosis can be challenging. The difficulty can be further amplified if there is a synchronous lesion in a visceral organ on radiology, raising the suspicion of a metastatic carcinoma. We report an unusual diagnostically challenging case of synchronous, bilateral, multifocal intraparotid and extraparotid Warthin tumors mimicking a metastatic papillary thyroid carcinoma. We also highlight the usefulness of intraoperative consultation in guiding appropriate management in such cases.","PeriodicalId":43475,"journal":{"name":"AJSP-Reviews and Reports","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87473662","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
Unusual Human Papillomavirus–Related Neoplasms of the Head and Neck: A Case Series and Review of Literature 头颈部罕见的人类乳头瘤病毒相关肿瘤:病例系列和文献综述
IF 0.2
AJSP-Reviews and Reports Pub Date : 2020-01-01 DOI: 10.1097/PCR.0000000000000353
Kyle M. Devins, Z. Baloch, V. Livolsi
{"title":"Unusual Human Papillomavirus–Related Neoplasms of the Head and Neck: A Case Series and Review of Literature","authors":"Kyle M. Devins, Z. Baloch, V. Livolsi","doi":"10.1097/PCR.0000000000000353","DOIUrl":"https://doi.org/10.1097/PCR.0000000000000353","url":null,"abstract":"\u0000 Oropharyngeal squamous cell carcinoma accounts for the majority of human papillomavirus (HPV)–related neoplasms in the head and neck. However, recent studies have identified high-risk HPV in other, clinicopathologically distinct tumors in this region. We report a series of cases involving two unique HPV-mediated neoplasms. Human papillomavirus–related multiphenotypic sinonasal carcinoma is a locally aggressive tumor arising exclusively in the sinonasal tract with pathologic features reminiscent of high-grade adenoid cystic carcinoma. Ciliated adenosquamous carcinoma often presents as a unilateral neck mass and consists of admixed nonkeratinizing squamous cell carcinoma and glandular elements, which may be deceptively bland. Cilia are often present, which are traditionally associated with benignity and may lead to misdiagnosis as a benign branchial cleft cyst. In most cases, an oropharyngeal primary tumor is later identified. Despite aggressive features, both entities have a relatively favorable prognosis. These unusual tumors present unique diagnostic challenges that require particular attention to prevent misdiagnosis and mistreatment.","PeriodicalId":43475,"journal":{"name":"AJSP-Reviews and Reports","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78102811","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
Intrahepatic Mass-Forming Extramedullary Hematopoiesis in a Patient With Sickle Cell Disease: Case Report and Literature Review 镰状细胞病患者的肝内团块形成髓外造血:病例报告和文献复习
IF 0.2
AJSP-Reviews and Reports Pub Date : 2020-01-01 DOI: 10.1097/PCR.0000000000000360
Osama Al-Dalahmah, Simona De Michele, D. Sperling, K. O'toole, A. Iuga
{"title":"Intrahepatic Mass-Forming Extramedullary Hematopoiesis in a Patient With Sickle Cell Disease: Case Report and Literature Review","authors":"Osama Al-Dalahmah, Simona De Michele, D. Sperling, K. O'toole, A. Iuga","doi":"10.1097/PCR.0000000000000360","DOIUrl":"https://doi.org/10.1097/PCR.0000000000000360","url":null,"abstract":"\u0000 Extramedullary hematopoiesis (EMH) is characterized by the expansion of hematopoietic tissue outside the bone marrow niche. It occurs when bone marrow function is insufficient and typically presents with generalized hepatosplenomegaly. We describe a rare case of mass-forming EMH that presented as two intrahepatic lesions, radiologically well-demarcated and nonenhancing on computed tomography. On magnetic resonance imaging, the lesions appeared T1 hypointense and T2 hyperintense with restricted diffusion. The lesions were discovered at the surgical workup for acute cholecystitis in a patient with previous history notable for sickle cell disease. Given the radiological concern for a neoplastic process, an ultrasound-guided biopsy was performed and diagnosed histologically as EMH. A review of the current literature detailing the common clinical, radiological, and pathological presentation of EMH is provided.","PeriodicalId":43475,"journal":{"name":"AJSP-Reviews and Reports","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79504301","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
ETV6-NTRK3–Positive Inflammatory Myofibroblastic Tumor of the Ileum: Report of an Infantile Case and Review of the Differential Diagnosis of Pediatric Intestinal Polypoid Lesions 回肠etv6 - ntrk3阳性炎性肌纤维母细胞瘤1例报告及小儿肠息肉样病变鉴别诊断综述
IF 0.2
AJSP-Reviews and Reports Pub Date : 2020-01-01 DOI: 10.1097/PCR.0000000000000352
Mio Tanaka, Nanako Terada, Misa Yoshida, M. Shinkai, Yukichi Tanaka
{"title":"ETV6-NTRK3–Positive Inflammatory Myofibroblastic Tumor of the Ileum: Report of an Infantile Case and Review of the Differential Diagnosis of Pediatric Intestinal Polypoid Lesions","authors":"Mio Tanaka, Nanako Terada, Misa Yoshida, M. Shinkai, Yukichi Tanaka","doi":"10.1097/PCR.0000000000000352","DOIUrl":"https://doi.org/10.1097/PCR.0000000000000352","url":null,"abstract":"\u0000 We report a case of an intestinal polyp causing intussusception in a 2-month-old boy. The resected polyp was diagnosed by histology and immunohistochemistry as an anaplastic lymphoma kinase (ALK)–negative inflammatory myofibroblastic tumor (IMT), and the ETS variant 6 (ETV6)–neurotrophic receptor tyrosine kinase 3 (NTRK3) fusion gene was detected by reverse transcription–polymerase chain reaction. Recently, histologically definitive, ALK-negative IMTs possessing the ETV6-NTRK3 fusion gene have been reported. To the best of our knowledge, this is the first case of an intestinal IMT harboring ETV6-NTRK3. In the differential diagnosis of ALK-negative IMTs or spindle cell lesions showing considerably high cellularity, ETV6 rearrangement should be considered.","PeriodicalId":43475,"journal":{"name":"AJSP-Reviews and Reports","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77266692","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: 2
Combined Erdheim-Chester Disease and Langerhans Cell Histiocytosis in the Lung: A Report of 2 Patients With Overlap Syndrome 肺合并Erdheim-Chester病和Langerhans细胞组织细胞增多症:重叠综合征2例报告
IF 0.2
AJSP-Reviews and Reports Pub Date : 2020-01-01 DOI: 10.1097/PCR.0000000000000349
Yumay Pires, C. Jokerst, P. Panse, B. Kipp, H. Tazelaar
{"title":"Combined Erdheim-Chester Disease and Langerhans Cell Histiocytosis in the Lung: A Report of 2 Patients With Overlap Syndrome","authors":"Yumay Pires, C. Jokerst, P. Panse, B. Kipp, H. Tazelaar","doi":"10.1097/PCR.0000000000000349","DOIUrl":"https://doi.org/10.1097/PCR.0000000000000349","url":null,"abstract":"\u0000 Erdheim-Chester disease (ECD) and Langerhans cell histiocytosis (LCH) are two rare diseases typically separated by clinical, radiologic, and histologic criteria. However, coexistence of both entities is rare, with fewer than 50 cases reported. Although there are reports of patients with LCH and ECD in the same organ, there have been no reported cases of the two diseases involving the lung. We report two cases of ECD-LCH “overlap syndrome” occurring in the lung. In both cases, the diagnoses were supported by typical immunohistochemical patterns, and in both cases, the BRAF V600E mutation was identified by next-generation sequencing and confirmed by droplet digital polymerase chain reaction. In neither case was either diagnosis suspected. The recognition of overlap histiocytoses is important. Although LCH and ECD may differ in treatment and prognosis, in some cases, such as the two patients reported here, they may have the same activating mutations and may be able to be treated with the same targeted therapy.","PeriodicalId":43475,"journal":{"name":"AJSP-Reviews and Reports","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87899167","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
Unsuspected Cirrhosis-Like Subtype of Hepatocellular Carcinoma in Explanted Liver: A Review 外植肝中未怀疑的肝硬化样肝细胞癌亚型:综述
IF 0.2
AJSP-Reviews and Reports Pub Date : 2020-01-01 DOI: 10.1097/PCR.0000000000000351
Matthew Gosse, H. Appelman
{"title":"Unsuspected Cirrhosis-Like Subtype of Hepatocellular Carcinoma in Explanted Liver: A Review","authors":"Matthew Gosse, H. Appelman","doi":"10.1097/PCR.0000000000000351","DOIUrl":"https://doi.org/10.1097/PCR.0000000000000351","url":null,"abstract":"\u0000 Cirrhosis-like hepatocellular carcinoma is a rare subtype of hepatocellular carcinoma that is mostly diagnosed at time of liver transplantation or autopsy and is not clinically suspected preoperatively or premortem. This entity is characterized by numerous distinct neoplastic foci that arise within regenerative cirrhotic nodules. Knowledge of this subtype of HCC is important for comprehensive examination of explanted and autopsy liver specimens. The clinical presentation, gross, histology, and prognosis are discussed in this review.","PeriodicalId":43475,"journal":{"name":"AJSP-Reviews and Reports","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88626010","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
Myeloid Sarcoma of the Urinary Bladder Associated With t(8;21): Case Report and Review of the Literature 膀胱髓样肉瘤伴t(8;21):病例报告及文献复习
IF 0.2
AJSP-Reviews and Reports Pub Date : 2019-11-01 DOI: 10.1097/PCR.0000000000000336
María L Suárez-Solís, F. G. González Fernández, J. Barrera Ortega, N. Pérez Romero, María García Roa, M. F. Fernández Aceñero, Freddy Fernando Durán Botia, L. Ortega Medina
{"title":"Myeloid Sarcoma of the Urinary Bladder Associated With t(8;21): Case Report and Review of the Literature","authors":"María L Suárez-Solís, F. G. González Fernández, J. Barrera Ortega, N. Pérez Romero, María García Roa, M. F. Fernández Aceñero, Freddy Fernando Durán Botia, L. Ortega Medina","doi":"10.1097/PCR.0000000000000336","DOIUrl":"https://doi.org/10.1097/PCR.0000000000000336","url":null,"abstract":"Myeloid sarcoma is a malignant neoplasm of myeloid lineage that occurs in extramedullary sites, frequently in patients with acute myeloid leukemia and other myeloproliferative and myelodysplastic syndromes. Myeloid sarcoma of the urinary bladder is exceptionally rare, and although themost common cytogenetic abnormality associated with this lesion is t(8;21)/RUNXRUNX1T1, to the best of our knowledge, there are no previous reports of this in patients with bladder involvement. We report a case of a 30-year-old man with a urinary bladder mass, which was consistent with myeloid sarcomawith t(8;21). The importance of myeloid sarcoma of the bladder is that it could be misdiagnosed and must be differentiated from other poorly differentiated bladder tumors composed of round cells, mainly because it is amalignant neoplasm with a good response to treatment, which does not require surgery.","PeriodicalId":43475,"journal":{"name":"AJSP-Reviews and Reports","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2019-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91375550","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
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