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A Rare Case of NUT Carcinoma and Review of the Literature NUT癌1例及文献复习
Q4 PATHOLOGY Pub Date : 2021-01-01 DOI: 10.1097/PCR.0000000000000464
B. Zelman, Hannah H. Chen, S. Pambuccian, Razan Massarani‐Wafai, S. Mehrotra, V. Ananthanarayanan
Abstract Nuclear protein in testis (NUT) carcinoma is a rare, aggressive, poorly differentiated malignant neoplasm. NUT carcinoma (NC) is hallmarked by its chromosomal translocation involving the NUT/NUTM1 gene, which leads to a fusion oncoprotein that blocks epithelial differentiation and maintains proliferation in tumor cells. The translocation occurs with members of the BET (bromodomain and extraterminal domain) protein family, with 70% of the cases forming the NUTM1-BRD4 fusion. It most frequently involves the thoracic cavity followed by the head and neck, with a preference for midline areas of the body, especially the sinonasal tract and mediastinum. This led to NC formerly being known as NUT midline carcinoma. However, studies have shown that NC can occur widely throughout the body, thus leading to the updated name. NUT carcinoma is histologically defined as a tumor of primitive appearing round monomorphic cells with possible foci of abrupt keratinization. Given its rarity and its morphologic and immunohistochemical overlap with other tumors, NC has been largely underdiagnosed and misdiagnosed in the past few decades. However, with the improvement of genetic testing and the availability of an anti-NUT monoclonal antibody for diagnostic immunohistochemistry, the number of cases classified as NCs has vastly increased in the recent past.
摘要睾丸核蛋白癌是一种罕见的侵袭性低分化恶性肿瘤。NUT癌(NC)的特点是其涉及NUT/NUTM1基因的染色体易位,导致融合癌蛋白阻断上皮分化并维持肿瘤细胞的增殖。易位发生在BET(溴域和外域)蛋白家族成员中,70%的病例形成了NUTM1-BRD4融合。它最常累及胸腔,其次是头部和颈部,偏爱身体的中线区域,特别是鼻窦束和纵隔。这导致NC以前被称为NUT中线癌。然而,研究表明,NC可以广泛发生在全身,因此导致了更新的名称。NUT癌在组织学上被定义为一种原始的圆形单形细胞肿瘤,可能伴有突发性角化灶。由于其罕见性以及与其他肿瘤的形态和免疫组织化学重叠,在过去的几十年里,NC在很大程度上被低估和误诊。然而,随着基因检测的改进和抗nut单克隆抗体用于诊断免疫组织化学的可用性,近年来归类为nc的病例数量大大增加。
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引用次数: 2
Salivary Hyalinizing Clear Cell Carcinoma: Report of a Genetically Confirmed Pediatric Case and Review of the Literature 涎腺透明细胞癌:1例遗传证实的儿科病例报告及文献复习
Q4 PATHOLOGY Pub Date : 2021-01-01 DOI: 10.1097/PCR.0000000000000463
Doreen N. Palsgrove, P. Wilson, B. R. Oliai, J. Bishop
Abstract Hyalinizing clear cell carcinoma (HCCC) is a rare but well-recognized low-grade salivary gland malignancy. In addition to being a morphologically distinct neoplasm with cords and nests of predominantly clear cells in hyalinized fibrous stroma, it harbors a characteristic EWSR1 gene rearrangement that can be readily exploited as a diagnostic marker to help distinguish it from other salivary gland tumors with overlapping histomorphology. We herein report a pediatric case of salivary HCCC arising in the oral cavity of an 11-year-old girl. The tumor cells contained moderate amounts of eosinophilic to clear cytoplasm and hyperchromatic nuclei. The stroma was notable for a biphasic spatial arrangement alternating between fibrocellular regions and hyalinized basement membrane–like areas immediately adjacent to tumor cell nests. By immunohistochemistry, the tumor was positive for p40 and negative for SOX10, S100 protein, and smooth muscle actin. Fluorescence in situ hybridization was positive for an EWSR1 chromosomal rearrangement. This is the first reported, molecularly confirmed pediatric case of HCCC. It further expands the diagnostic age range of HCCC to include the pediatric population and highlights the potential risk of misdiagnosis.
透明细胞癌(HCCC)是一种罕见但公认的低级别唾液腺恶性肿瘤。除了是一种形态独特的肿瘤,在透明化纤维间质中有以透明细胞为主的索状和巢状细胞外,它还含有一种特征性的EWSR1基因重排,可以很容易地作为一种诊断标志物,帮助区分它与其他组织形态重叠的唾液腺肿瘤。我们在此报告一个小儿病例唾液HCCC出现在口腔的一个11岁的女孩。肿瘤细胞中含有适量的嗜酸性粒细胞,以清除细胞质和深染的细胞核。间质在纤维细胞区和紧挨着肿瘤细胞巢的透明基底膜样区之间有明显的双相空间排列。免疫组化结果显示肿瘤p40阳性,SOX10、S100蛋白、平滑肌肌动蛋白阴性。荧光原位杂交显示EWSR1染色体重排阳性。这是首次报道的经分子证实的儿童HCCC病例。它进一步扩大了HCCC的诊断年龄范围,包括儿科人群,并强调了误诊的潜在风险。
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引用次数: 0
Diagnosis of Sinonasal Ectopic Pituitary Adenomas 鼻窦异位垂体腺瘤的诊断
Q4 PATHOLOGY Pub Date : 2021-01-01 DOI: 10.1097/PCR.0000000000000454
D. Berry, D. Ornan, M. Lopes
Supplemental digital content is available in the text. Abstract Ectopic pituitary adenomas (EPAs) are uncommon sinonasal neoplasms that present a diagnostic challenge in practice. We present a case of a patient presenting with progressive headache. Workup revealed an enhancing mass on magnetic resonance imaging at the anterior clivus with extension into the sphenoid sinus. Resection of the tumor was performed, and microscopic examination showed a neuroendocrine tumor composed of monomorphic cells arranged in nests. The tumor expressed synaptophysin, chromogranin, growth hormone, prolactin, thyroid-stimulating hormone, follicle-stimulating hormone, α-subunit of the glycoproteins, and transcription factors steroidogenic factor 1 and Pit-1, diagnosed as a plurihormonal pituitary adenoma. Given the radiologic and surgical impression of an intact and uninvolved pituitary gland, the lesion was identified as a pituitary adenoma arising in ectopic adenohypophyseal tissue. This case demonstrates the multitude of possible tissue types involved in tumor histogenesis in the sinonasal cavity. We highlight the radiographic, intraoperative, cytologic, and histologic features of sinonasal pituitary adenoma to emphasize the role of an expanded differential, including central nervous system lesions, for neoplasms in this anatomic region.
补充的数字内容可在文本中找到。异位垂体腺瘤(EPAs)是一种罕见的鼻窦肿瘤,在实践中提出了诊断挑战。我们提出一个病例的病人表现为进行性头痛。检查发现前斜坡处有一个增强肿块,并延伸至蝶窦。手术切除肿瘤,镜检显示为神经内分泌肿瘤,单形细胞呈巢状排列。肿瘤表达synaptophysin、chromogranin、生长激素、催乳素、促甲状腺激素、促卵泡激素、α-糖蛋白亚基、转录因子steridogenic factor 1、Pit-1,诊断为多激素垂体腺瘤。鉴于放射学和手术的印象是一个完整的和未受累的垂体,病变被确定为垂体腺瘤产生于异位腺垂体组织。本病例显示多种可能的组织类型参与鼻腔肿瘤的组织形成。我们强调鼻窦垂体腺瘤的影像学、术中、细胞学和组织学特征,以强调扩大鉴别的作用,包括中枢神经系统病变,在这个解剖区域的肿瘤。
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引用次数: 0
Heterotopic Ossification of the Mesentery: A Rare Postoperative Complication 肠系膜异位骨化:一种罕见的术后并发症
Q4 PATHOLOGY Pub Date : 2021-01-01 DOI: 10.1097/PCR.0000000000000429
Gloria H Sura, Nicole R. Jackson, Shirley Yodzis, S. Fox
Abstract Heterotopic ossification is a rare, reactive condition, sometimes classified as a “pseudotumor,” involving the formation of bone within the soft tissues (Int J Surg Case Rep 2014;5:476–479), This process can occur as an undesirable pathologic sequela of trauma and surgery (J Am Acad Orthop Surg 2004;12:116–125). The few cases reported in the literature are almost exclusively in men with a predominance in people of African ancestry (J Am Acad Orthop Surg 2004;12:116–125; Bone Joint J 2016;98-B:761–766; Case Rep Surg 2019;2019:4036716). Reports of heterotopic ossification have been described in medical literature since 1692 as myositis ossificans progressiva (JBJS 1938;20:661–674). It was not until 1999 that the term “heterotopic mesenteric ossification” was formally used by Wilson et al to describe a complication found in post–abdominal surgical patients (Am J Surg Pathol 1999;23:1464–1470). Although the exact pathologic mechanism of heterotopic mesenteric ossification has not been elucidated, some hypotheses include differentiation of mesenchymal progenitor cells toward an osteogenic lineage, as well as proliferation of dislocated fragments of bone from other regions of the body (J Gastrointest Surg 2015;19:579–580). Since the late 1900s, fewer than 40 cases of mesenteric ossification have been reported. Limited gross and histologic description is available for pathologists and surgeons to identify this phenomenon; however, further data can be acquired at autopsy. Awareness of this condition on the part of clinicians, and early review and recognition by pathologists, may alter surgical management decisions and improve upon morbidity and mortality in these patients. We present gross and histologic examination of an advanced case of heterotopic ossification at autopsy, with a review of current management recommendations.
异位骨化是一种罕见的反应性疾病,有时被归类为“假肿瘤”,涉及软组织内骨的形成(Int J surgery Case Rep 2014;5:47 76 - 479),这一过程可能作为创伤和手术的不良病理后遗症发生(J Am Acad Orthop surgery 2004; 12:116-125)。文献中报道的少数病例几乎全部发生在男性中,以非洲血统的人为主(J Am Acad Orthop surgery 2004; 12:16 - 125;骨关节[J]; 2016; 38 - b: 761-766;病例报告外科2019;2019:4036716)。自1692年以来,异位骨化在医学文献中被描述为进行性骨化性肌炎(JBJS 1938; 20:661-674)。直到1999年Wilson等人才正式使用“异位肠系膜骨化”一词来描述腹部手术后患者的并发症(Am J Surg Pathol 1999; 23:1464-1470)。虽然异位肠系膜骨化的确切病理机制尚未阐明,但一些假说包括间充质祖细胞向成骨谱系的分化,以及来自身体其他部位的脱位骨碎片的增殖(J Gastrointest Surg 2015; 19:579-580)。自20世纪后期以来,报道的肠系膜骨化病例不到40例。有限的大体和组织学描述可供病理学家和外科医生识别这种现象;然而,进一步的数据可以在尸检中获得。临床医生对这种情况的认识,以及病理学家的早期检查和认识,可能会改变手术管理决策,并改善这些患者的发病率和死亡率。我们在尸检中对一例晚期异位骨化病例进行大体和组织学检查,并对目前的治疗建议进行回顾。
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引用次数: 0
Polyostotic Fibrous Dysplasia With Extensive Cartilaginous Differentiation: A Rare Case Clinically Mimicking Ollier Disease 多骨纤维发育不良伴广泛软骨分化:一例临床模拟脂肪肝疾病的罕见病例
Q4 PATHOLOGY Pub Date : 2021-01-01 DOI: 10.1097/PCR.0000000000000427
Melanie H Hakar, C. Chapman, B. Hansford, Jessica L. Davis
Abstract Fibrous dysplasia is a dysplastic disorder of bone caused by missense mutations of the GNAS1 gene. Fibrocartilaginous dysplasia (also known as fibrochondrodysplasia or fibrous dysplasia with extensive cartilaginous differentiation) is a rare variant of fibrous dysplasia with extensive cartilaginous differentiation that shows a predilection for the lower extremities and can affect one or multiple bones. Although benign, this entity causes progressively expansile lesions that can lead to deformity and ultimately pathologic fracture. On imaging, this entity can show features consistent with a variety of benign and malignant cartilage-forming tumors. We present the case of a 16-year-old male patient who presented with clinical history of Ollier disease and multiple presumed enchondromas. He underwent below-the-knee amputation for progressive tibial deformity, pathologic fracture, and pain. Microscopic examination of multiple lower-extremity bones revealed a fibro-osseous lesion with massive cartilaginous differentiation consistent with fibrocartilaginous dysplasia.
摘要纤维性发育不良是由GNAS1基因错义突变引起的骨发育不良。纤维软骨发育不良(也称为纤维软骨发育不良或纤维性发育不良伴广泛软骨分化)是一种罕见的纤维性发育不良伴广泛软骨分化,多发于下肢,可影响单侧或多侧骨骼。虽然是良性的,但这种实体会引起逐渐扩大的病变,导致畸形并最终导致病理性骨折。在影像学上,该实体可表现出与各种良恶性软骨形成肿瘤一致的特征。我们提出的情况下,16岁的男性患者谁提出的临床史脂肪肝疾病和多发性内软骨瘤推定。患者因进行性胫骨畸形、病理性骨折和疼痛接受膝下截肢。多发性下肢骨镜检查显示纤维-骨性病变伴大量软骨分化,符合纤维-软骨发育不良。
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引用次数: 2
SARS-CoV-2–Associated Myocarditis at Autopsy 尸检发现sars - cov -2相关心肌炎
Q4 PATHOLOGY Pub Date : 2021-01-01 DOI: 10.1097/PCR.0000000000000438
Ravikant Singh, Geunyoung Jung, Erin G. Brooks
Abstract The COVID-19 pandemic has been a major cause of mortality worldwide. While respiratory pathology seems to be the major mechanism of disease, cardiovascular pathology has increasingly been reported to play a role in adverse outcomes. A variety of different cardiovascular histopathologies have been reported at postmortem examination including myocarditis. Because of limited autopsy numbers and lack of standardized reporting of such cases, however, the prevalence of COVID-19 (2019 coronavirus disease)–associated myocarditis is unknown. The current autopsy case report illustrates how COVID-19 pulmonary pathology can be accompanied by right ventricular myocarditis. The discussion reviews the pathophysiology of myocarditis, as well as diagnostic strategies, adding to the growing body of literature describing myocarditis in association with COVID-19 disease.
COVID-19大流行已成为全球死亡的主要原因。虽然呼吸病理似乎是疾病的主要机制,但心血管病理越来越多地被报道在不良后果中发挥作用。各种不同的心血管组织病理在死后检查已被报道,包括心肌炎。然而,由于尸检数量有限且缺乏此类病例的标准化报告,COVID-19(2019冠状病毒病)相关心肌炎的患病率尚不清楚。目前的尸检病例报告说明了COVID-19肺部病理如何伴随右室心肌炎。讨论回顾了心肌炎的病理生理学,以及诊断策略,增加了越来越多的文献描述与COVID-19疾病相关的心肌炎。
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引用次数: 1
Tertiary Syphilis Involving the Larynx: A Rare Case Report 三期梅毒累及喉部:一罕见病例报告
Q4 PATHOLOGY Pub Date : 2021-01-01 DOI: 10.1097/PCR.0000000000000468
B. Thakkar, Wesley D. Carlisle, S. Redfield, Andrew T. Meram
There has been a resurgence of syphilis, and the diagnosis should be considered in the differential diagnosis of masses in the head and neck region. Abstract Syphilis is one of the most common sexually transmitted diseases. In recent years, a resurgence of syphilis has been described in the literature, with a 71.4% increase in documented cases in the United States from 2014 to 2018. Tertiary syphilis remains rare in developed countries. We report a case of tertiary laryngeal syphilis in a middle-aged man presenting with cervical lymphadenopathy and an oropharyngeal mass with clinical features suggestive of malignancy. Precise pathologic examination with laboratory testing revealed the final diagnosis. We review the imaging and pathologic findings to emphasize the importance of taking syphilis into consideration in the differential diagnosis of oropharyngeal masses.
梅毒有死灰复生,在头颈部肿块鉴别诊断中应考虑梅毒的诊断。梅毒是最常见的性传播疾病之一。近年来,文献中描述了梅毒的复苏,从2014年到2018年,美国有记录的病例增加了71.4%。三期梅毒在发达国家仍然很少见。我们报告一个三期喉部梅毒的病例在一个中年男子提出颈部淋巴结病和口咽肿块的临床特征提示恶性肿瘤。精确的病理检查和实验室检查揭示了最终的诊断。我们回顾影像学和病理结果,强调在鉴别诊断口咽肿块时考虑梅毒的重要性。
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引用次数: 0
Spindle Cell Sinonasal Rhabdomyosarcoma in a 73-Year-Old Man: A Case Report 73岁男性鼻窦梭形细胞横纹肌肉瘤1例
Q4 PATHOLOGY Pub Date : 2021-01-01 DOI: 10.1097/PCR.0000000000000428
Bronson Wessinger, Justin C Morse, J. Lewis, J. Shinn, R. Chandra
Introduction Rhabdomyosarcoma (RMS) is a malignant soft tissue neoplasm differentiating into primitive mesenchymal cells with partial skeletal muscle differentiation. It is rare, especially in the sinonasal cavity. We review available literature on sinonasal RMS and present a case report involving spindle cell sinonasal RMS, one of the rarest subtypes. Case Report A 73-year-old man with months of right-sided epiphora and nasal obstruction had abnormal soft tissue and calcification in the right nasal cavity on computed tomography. Nasal endoscopy revealed a smooth, firm mass involving the inferior turbinate. The mass was removed en bloc via endoscopic partial medial maxillectomy and ethmoidectomy. Gross pathologic examination revealed a mottled red, tan, firm, bosselated, and glistening mass, with irregular fragments of soft tissue and bone. Histologic examination showed a variably myxoid and fibrous neoplasm with hyalinization. Tumor cells were spindled with moderate pleomorphism and low mitotic activity. Immunohistochemistry was extensively positive for desmin and myoD1 and focally positive for smooth muscle actin. A diagnosis of sinonasal RMS, grade 2, was made. Discussion/Conclusion This is the first reported case of spindle cell RMS originating from the inferior turbinate. Sinonasal RMS has the worst prognosis of all primary sites, especially with age older than 65 years, alveolar subtype, primary tumor greater than 5 cm, high stage/group, and distant metastases. While the risk stratification system accounts for surgical and pathologic factors, more research is needed to determine how this guides selection of resection and/or chemoradiation.
横纹肌肉瘤(Rhabdomyosarcoma, RMS)是一种向原始间充质细胞分化并伴有部分骨骼肌分化的软组织恶性肿瘤。这是罕见的,特别是在鼻腔。我们回顾了已有的关于鼻窦RMS的文献,并提出了一个涉及梭形细胞鼻窦RMS的病例报告,这是最罕见的亚型之一。病例报告一名73岁男性患者,右侧鼻溢和鼻塞数月,ct显示右鼻腔软组织异常和钙化。鼻内窥镜检查发现一平滑、坚固的肿块累及下鼻甲。通过内窥镜颌内部分切除术和筛切除术将肿块整体切除。大体病理检查显示一个斑驳的红色、棕褐色、坚硬、呈隆起状、闪闪发光的肿块,伴有不规则的软组织和骨骼碎片。组织学检查显示不同粘液样和纤维性肿瘤伴透明化。肿瘤细胞呈纺锤形,多形性中等,有丝分裂活性低。免疫组化示desmin和myoD1广泛阳性,平滑肌肌动蛋白局部阳性。诊断为鼻窦RMS 2级。讨论/结论这是首例起源于下鼻甲的梭形细胞RMS病例。鼻窦RMS在所有原发部位预后最差,尤其是年龄大于65岁、肺泡亚型、原发肿瘤大于5cm、分期/组高、远处转移。虽然风险分层系统考虑了手术和病理因素,但需要更多的研究来确定它如何指导切除和/或放化疗的选择。
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引用次数: 0
Common Differential Diagnostic Issues in Lung Cytopathology: 3 Case Reports and a Review 肺细胞病理学中常见的鉴别诊断问题:3例报告和综述
Q4 PATHOLOGY Pub Date : 2021-01-01 DOI: 10.1097/PCR.0000000000000443
R. Fanaroff, T. Legesse, K. Geisinger
Abstract The diagnosis and staging of lung malignancies increasingly rely on the use of cytologic sampling techniques, particularly endobronchial ultrasound-guided transbronchial needle aspiration. Endobronchial ultrasound-guided transbronchial needle aspiration is minimally invasive and cost-effective and, most significantly, has been shown to be equivalent to conventional sampling methods. As the role of endobronchial ultrasound-guided transbronchial needle aspiration and other cytologic sampling methods, including transthoracic fine-needle aspiration and bronchoalveolar lavage, expands, diagnostic dilemmas arise that may pose a challenge to the cytopathologist. This review discusses 3 cases that illustrate 3 differential diagnoses, with an emphasis on distinguishing lung carcinoma from benign entities.
肺恶性肿瘤的诊断和分期越来越依赖于细胞学采样技术的使用,特别是支气管超声引导下的经支气管穿刺。超声引导下经支气管针抽吸具有微创性和成本效益,最重要的是,已被证明与传统的采样方法相当。随着支气管超声引导下经支气管针抽吸和其他细胞学采样方法(包括经胸细针抽吸和支气管肺泡灌洗)的作用扩大,出现了诊断困境,这可能给细胞病理学家带来挑战。本文讨论3例肺癌的3种鉴别诊断,重点讨论肺癌与良性肿瘤的区别。
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引用次数: 1
Lung Adenocarcinoma Metastatic to the Cervix: Report of a Rare Case and Review of the Literature 肺腺癌转移至子宫颈:一例罕见病例报告及文献复习
Q4 PATHOLOGY Pub Date : 2021-01-01 DOI: 10.1097/PCR.0000000000000447
H. Hosseini, Jordan M. Steinberg, Fanni Ratzon, P. Unger, Alyssa Yurovitsky
Abstract Metastatic involvement of the cervix by nongynecologic malignancies is an extremely rare occurrence. We report a case of metastatic lung adenocarcinoma to the cervix. The patient is a 70-year-old woman who was admitted because of acute kidney injury. Imaging studies revealed left-sided hydronephrosis and a 3.2-cm heterogeneous pelvic mass involving the left pelvic wall. The patient underwent hysteroscopy with dilatation and curettage. Specimens labeled with endometrial and endocervical curettings were notable for tumor cells infiltrating the fibromuscular tissue. Immunohistochemical studies showed that the tumor cells were positive for CK7, napsin A, and TTF1, whereas they were negative for PAX8, p16, p40, p53, GATA3, and ER. This immunophenotype was consistent with a metastatic adenocarcinoma of the lung primary.
摘要宫颈转移累及由非妇科恶性肿瘤是一个极其罕见的发生。我们报告一例转移到子宫颈的肺腺癌。患者是一名70岁的妇女,因急性肾损伤而入院。影像学检查显示左侧肾积水和一个3.2厘米的非均匀盆腔肿块累及左侧盆腔壁。患者行宫腔镜扩张刮除术。用子宫内膜和宫颈内膜刮片标记的标本显示肿瘤细胞浸润纤维肌肉组织。免疫组化研究显示,肿瘤细胞CK7、napsin A和TTF1呈阳性,而PAX8、p16、p40、p53、GATA3和ER呈阴性。这种免疫表型与肺原发性转移性腺癌一致。
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引用次数: 0
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