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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 Pub Date : 2020-01-01 DOI: 10.1097/PCR.0000000000000359
Nima Sharifai, R. Runyon, M. Friedman, C. Cipriano, J. Chrisinger
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.
金刚素瘤是一种罕见的低级别恶性骨肿瘤,由骨纤维间质中的上皮细胞组成。骨纤维性发育不良样和典型形式是众所周知的;然而,很少观察到肉瘤转化(去分化)。我们提出的情况下,一个48岁的妇女谁提出了5厘米股骨近端溶解病变的病理性骨折的风险。冷冻切片显示非典型鳞状巢和梭形细胞的密切混合,与转移性肉瘤样癌一致,因此完成了预防性髓内钉治疗。术后临床和放射学评估未能确定原发癌,短期随访显示肿瘤迅速扩散至股骨和大腿。患者接受髋关节脱臼,显微镜检查显示典型的金刚素瘤区域与高级别上皮和肉瘤样成分相关。7个月内弥漫性转移扩散明显。随着本病例的描述,我们回顾了8例具有高级别肉瘤转化的金刚烷瘤的临床、影像学、组织学和免疫表型特征,这些特征在英国文献中已经有详细的报道,并讨论了鉴别诊断的重要注意事项。
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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 Pub Date : 2020-01-01 DOI: 10.1097/PCR.0000000000000358
N. Rush, R. Saxena, Jingmei Lin
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.
朗格汉斯细胞组织细胞增多症(LCH)很少累及肝脏而无全身性表现,尤其是在成人人群中。我们描述一个罕见的LCH与孤立的肝脏受累的情况。我们回顾了原生和同种异体移植标本的组织病理学资料,包括所有活组织检查、外植肝切除术和积累超过10年的相关临床数据。46岁女性,表现为黄疸和瘙痒。最初的检查包括肝活检,结果诊断为抗线粒体抗体阴性的原发性胆管炎伴晚期纤维化。一年内,患者发展为失代偿性肝硬化,需要移植。她在移植后的病程中经常出现明显升高的碱性磷酸酶和γ-谷氨酰转移酶,并伴有轻度的肝转氨酶升高。这些异常和肝活检发现的胆管损伤和门静脉炎症被认为是急性细胞排斥反应。她的肝酶显示出一些改善,但在大剂量类固醇治疗后从未完全恢复正常,并在治疗停止后升高。移植后3年,基于同种异体移植活检的组织病理学和免疫组织化学诊断LCH。又过了四年,患者失去了移植的肝脏,需要进行第二次移植。移植的同种异体移植物显示疾病的斑片状分布,证实了在没有全身累及的情况下肝活检诊断LCH的困难。对于临床医生和病理学家来说,在诊断出抗线粒体抗体阴性的原发性胆管炎或小管原发性硬化性胆管炎之前,排除LCH累及肝脏是至关重要的。
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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 Pub Date : 2020-01-01 DOI: 10.1097/PCR.0000000000000357
A. Hamza, Christopher M. K. L. Yao, S. Lai, D. Bell
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.
透明细胞牙源性癌和粘液表皮样癌的透明细胞变异型是一种罕见的侵袭性肿瘤,通常发生在50岁左右的个体,并且偏爱上颌和下颌骨。透明细胞牙源性癌以EWSR1基因重排为特征,而黏液表皮样癌以maml2基因重排为特征。荧光原位杂交分析重排这些基因可以是非常有用的,在困难的情况下,当传统的组织学区分是不可能的。在这里,我们描述了一个独特的病例,一个69岁的男性患有颌骨骨内肿瘤,细胞形态清晰,荧光原位杂交分析显示MAML2基因重排以及EWSR1基因低水平重排。在我们看来,这个病例代表了一个混杂的肿瘤窝藏双基因重排。
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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 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
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.
沃氏瘤是腮腺第二常见的良性肿瘤。它很少是多灶性的,发生在腮腺外部位,最常见的是颈部淋巴结。细针抽吸细胞学检查是腮腺Warthin肿瘤的诊断方法;然而,在腮腺外部位,诊断可能具有挑战性。如果在放射学上有内脏器官的同步病变,增加转移癌的怀疑,则困难会进一步增加。我们报告一个不寻常的诊断具有挑战性的病例同步,双侧,多灶的腮腺内和腮腺外沃辛肿瘤模拟转移性甲状腺乳头状癌。我们还强调术中会诊在指导此类病例的适当管理方面的有用性。
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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 Pub Date : 2020-01-01 DOI: 10.1097/PCR.0000000000000353
Kyle M. Devins, Z. Baloch, V. Livolsi
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.
口咽鳞状细胞癌占头颈部人类乳头状瘤病毒(HPV)相关肿瘤的大多数。然而,最近的研究已经在该地区的其他临床病理不同的肿瘤中发现了高危HPV。我们报告了一系列涉及两种独特的hpv介导肿瘤的病例。人乳头瘤病毒相关的多表型鼻窦癌是一种仅发生在鼻窦炎的局部侵袭性肿瘤,其病理特征与高级别腺样囊性癌相似。纤毛腺鳞状癌通常表现为单侧颈部肿块,由非角化鳞状细胞癌和腺体成分混合组成,可能看起来平淡无奇。纤毛通常存在,传统上与良性相关,并可能导致误诊为良性鳃裂囊肿。在大多数病例中,口咽原发肿瘤后来才被发现。尽管具有侵袭性特征,但两种实体的预后相对较好。这些不寻常的肿瘤提出了独特的诊断挑战,需要特别注意,以防止误诊和误治。
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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 Pub Date : 2020-01-01 DOI: 10.1097/PCR.0000000000000360
Osama Al-Dalahmah, Simona De Michele, D. Sperling, K. O'toole, A. Iuga
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.
髓外造血(EMH)的特点是骨髓壁龛外造血组织的扩张。当骨髓功能不足时发生,典型表现为全身性肝脾肿大。我们描述了一个罕见的肿块形成的EMH,表现为两个肝内病变,放射学上界限清楚,计算机断层扫描无增强。mri表现为T1低信号和T2高信号,弥散受限。该病变是在急性胆囊炎的外科检查中发现的,患者既往有镰状细胞病病史。考虑到肿瘤过程的放射学问题,超声引导下进行活检并在组织学上诊断为EMH。回顾当前文献详细介绍EMH的常见临床,放射学和病理表现。
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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 Pub Date : 2020-01-01 DOI: 10.1097/PCR.0000000000000352
Mio Tanaka, Nanako Terada, Misa Yoshida, M. Shinkai, Yukichi Tanaka
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.
我们报告一例肠息肉引起肠套叠在一个2个月大的男孩。经组织学和免疫组化诊断为间变性淋巴瘤激酶(ALK)阴性炎性肌纤维母细胞瘤(IMT),逆转录-聚合酶链反应检测ETS变异6 (ETV6) -神经营养受体酪氨酸激酶3 (NTRK3)融合基因。最近,组织学上明确的alk阴性imt具有ETV6-NTRK3融合基因已被报道。据我们所知,这是第一例携带ETV6-NTRK3的肠道IMT病例。在alk阴性IMTs或具有相当高细胞密度的梭形细胞病变的鉴别诊断中,应考虑ETV6重排。
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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 Pub Date : 2020-01-01 DOI: 10.1097/PCR.0000000000000349
Yumay Pires, C. Jokerst, P. Panse, B. Kipp, H. Tazelaar
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.
埃尔德海姆-切斯特病(ECD)和朗格汉斯细胞组织细胞增多症(LCH)是两种罕见的疾病,通常通过临床、放射学和组织学标准来区分。然而,两种实体共存的情况很少见,报道的病例不到50例。虽然有LCH和ECD患者发生在同一器官的报道,但没有这两种疾病累及肺部的病例报道。我们报告两例发生在肺部的ECD-LCH“重叠综合征”。在这两例病例中,典型的免疫组织化学模式支持诊断,并且在这两例病例中,BRAF V600E突变均通过下一代测序鉴定并通过液滴数字聚合酶链反应证实。在两例病例中均未怀疑诊断。识别重叠组织细胞增多是很重要的。尽管LCH和ECD在治疗和预后方面可能有所不同,但在某些情况下,例如本文报道的两例患者,它们可能具有相同的激活突变,并且可能能够使用相同的靶向治疗。
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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 Pub Date : 2020-01-01 DOI: 10.1097/PCR.0000000000000351
Matthew Gosse, H. Appelman
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.
肝硬化样肝细胞癌是一种罕见的肝细胞癌亚型,大多在肝移植或尸检时诊断出来,在术前或死前没有临床怀疑。这种实体的特征是再生性肝硬化结节内出现许多不同的肿瘤灶。了解这种亚型的HCC对于移植肝脏标本的全面检查和尸检是很重要的。本文就其临床表现、大体、组织学及预后进行讨论。
{"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 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
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.
髓系肉瘤是一种发生在髓外部位的髓系恶性肿瘤,常见于急性髓系白血病和其他骨髓增生性和骨髓增生异常综合征患者。膀胱髓样肉瘤极为罕见,尽管与此病变相关的最常见的细胞遗传学异常是t(8;21)/RUNXRUNX1T1,但据我们所知,在累及膀胱的患者中尚无此类报道。我们报告一例30岁男性膀胱肿块,符合髓系肉瘤伴t(8;21)。膀胱髓样肉瘤的重要性在于它可能被误诊,必须与其他由圆形细胞组成的低分化膀胱肿瘤鉴别,主要是因为它是一种恶性肿瘤,治疗效果好,不需要手术治疗。
{"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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