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Unusual location of a central neurocytoma: Particularities of a rare brain tumor 中枢神经细胞瘤的异常位置:罕见脑肿瘤的特点
Pub Date : 2023-09-05 DOI: 10.5348/100075z11ao2023cr
Aimé Sosthène Ouédraogo, F. Ido, Souleymane Ouattara, Savadogo Ibrahim, R. A. Ouédraogo, Assita Sanou Lamien
Introduction: Central neurocytoma is a typically rare intraventricular glioneuronal tumor in young adults. Clinically, it is revealed by symptomatology of intracranial hypertension. Intra-parenchymal, extraventricular, and intramedullary localizations are exceptional. Central neurocytoma is considered a benign tumor that can recur locally, but craniospinal dissemination remains as an exception. Case Report: We report a case in a 35-year-old male subject who consulted for quadriparesis and genito-sphincter dysfunctions. The clinical examination noted a syndrome of intracranial hypertension, a kinetic and static cerebellar syndrome, spastic tetraplegia with crural predominance, and anesthesia going up to the sixth thoracic vertebra (T6). A magnetic resonance imaging (MRI) showed a heterogeneous left cerebellar lesion. This lesion was excised, and the sample was freshly sent to the pathological anatomy laboratory. Extemporaneous cytology using the Smear technique was performed and was consistent with a hemangioblastoma. The standard histological examination also revealed the diagnosis of hemangioblastoma, and an additional immunohistochemical (IHC) study was performed for better diagnostic accuracy. The study was conducted in a North African laboratory and was conclusive of a neurocytoma. The evolution was marked by cerebellar tumor regrowth at five months, then the death of the patient at eight (08) months after surgery. Conclusion: Central neurocytoma is a rare tumor that can be confused with several other tumors of the central nervous system. Immunohistochemistry is essential for diagnostic confirmation.
简介:中枢神经细胞瘤是一种罕见的年轻成人脑室内胶质细胞肿瘤。临床表现为颅内高压的症状。脑实质内、室外和髓内定位是例外。中枢神经细胞瘤被认为是一种可局部复发的良性肿瘤,但颅脊髓播散性仍是一个例外。病例报告:我们报告了一个35岁的男性受试者,他咨询了四肢瘫和生殖器括约肌功能障碍。临床检查发现颅内高压综合征,动态和静态小脑综合征,痉挛性四肢瘫痪伴脚部优势,麻醉持续到第6胸椎(T6)。磁共振成像(MRI)显示左小脑非均匀病变。切除病变,新鲜标本送病理解剖实验室。使用涂片技术进行的临时细胞学检查与血管母细胞瘤一致。标准组织学检查也显示了成血管细胞瘤的诊断,并进行了额外的免疫组织化学(IHC)研究,以提高诊断的准确性。这项研究是在北非实验室进行的,结论是神经细胞瘤。5个月时小脑肿瘤再生,术后8(08)个月患者死亡。结论:中枢神经细胞瘤是一种罕见的肿瘤,可与其他几种中枢神经系统肿瘤混淆。免疫组织化学是诊断确认的必要条件。
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引用次数: 0
Desmoplastic small round cell tumor of the pleura with brain metastasis: A case report and literature review 胸膜结缔组织增生小圆细胞瘤伴脑转移1例并文献复习
Pub Date : 2023-07-28 DOI: 10.5348/100074z11rp2023cr
Rebecca Phillips, Sumit Das
Introduction: Desmoplastic small round cell tumor (DSRCT) is a rare and aggressive mesenchymal neoplasm characterized by a chromosomal translocation involving the EWSR1 and WT1 genes. It typically arises in intra-abdominal tissues (i.e., mesentery, omentum, pelvic organs), and commonly spreads to regional lymph nodes, lungs, or liver, while central nervous system (CNS) metastasis is rare. Case Report: We present a unique case of DSRCT originating from the pleura in a young female, which was metastatic to intrathoracic and mediastinal tissue at diagnosis and later spread to the brain. The initial tumor samples exhibited characteristic histopathological features, including small round cells with minimal cytoplasm and indistinct borders embedded in a fibroblastic stroma. Notably, the brain metastasis demonstrated distinct histological characteristics, lacking the desmoplastic stroma observed in previous biopsies. Conclusion: This case underscores the diagnostic challenges associated with DSRCT, emphasizes the significance of early recognition and appropriate histological evaluation, and contributes to the limited literature on the histological features and metastatic behavior of this rare tumor.
结缔组织增生小圆细胞瘤(DSRCT)是一种罕见的侵袭性间质肿瘤,以涉及EWSR1和WT1基因的染色体易位为特征。它通常发生在腹腔内组织(即肠系膜、网膜、盆腔器官),通常扩散到区域淋巴结、肺或肝脏,而中枢神经系统(CNS)转移是罕见的。病例报告:我们报告了一个独特的病例,DSRCT起源于一名年轻女性的胸膜,在诊断时转移到胸内和纵隔组织,后来扩散到大脑。最初的肿瘤样本表现出典型的组织病理学特征,包括小的圆形细胞,细胞质很少,边界不清,嵌在成纤维基质中。值得注意的是,脑转移表现出明显的组织学特征,缺乏先前活检中观察到的结缔组织增生基质。结论:该病例强调了与DSRCT相关的诊断挑战,强调了早期识别和适当的组织学评估的重要性,并有助于对这种罕见肿瘤的组织学特征和转移行为进行有限的文献研究。
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引用次数: 0
Primary follicular lymphoma of the colon presenting as an incidental finding on endoscopy 结肠原发性滤泡性淋巴瘤是内镜检查的偶然发现
Pub Date : 2023-07-21 DOI: 10.5348/100073z11ke2023cr
Kylie Rose Everard, O. Ikpatt, Amrah Pirzada
We present a previously healthy 63-year-old female with incidental polyps in the colon that were detected during a surveillance endoscopy. Clinical examination and imaging studies did not detect any lymphadenopathy or organomegaly. Histopathologic evaluation of polyps revealed a low-grade follicular lymphoma. We suggest that follicular lymphoma should be considered as a differential diagnosis of polypoid lesions of the colon.
我们报告一位先前健康的63岁女性,在内镜检查中发现结肠息肉。临床检查和影像学检查未发现任何淋巴结病或器官肿大。息肉的组织病理学检查显示为低级别滤泡性淋巴瘤。我们建议滤泡性淋巴瘤应被视为结肠息肉样病变的鉴别诊断。
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引用次数: 0
Pneumatosis cystoides intestinalis revealed by an occlusive syndrome: A case report 闭塞综合征表现为肠囊性肺肿1例
Pub Date : 2023-05-26 DOI: 10.5348/100072z11fi2023cr
Franck Auguste Hermann Adémayali Ido, A. Ouédraogo, I. Savadogo, Rakiswendé Alexis Ouedraogo, S. Ouattara
Introduction: Pneumatosis cystoides intestinalis is a rare condition characterized by the presence of gas cysts in the intestinal wall. It can affect different segments of the digestive tract. Male patients over 50 years old seem to be more affected. Classically, one opposes the primary or idiopathic forms and the secondary forms. Case Report: We report the case of a 62-year-old female patient with a history of treated peptic ulcers, who presented with episodes of intermittent atypical abdominal pain that worsened abruptly. The physical examination revealed a surgical abdomen with tenderness to palpation. The patient underwent a jejunal resection. The pathological examination showed macroscopically an intestinal fragment with confluent subserosal and intestinal intraparietal bullae. On opening, the portion containing the bullae was thickened, infarcted, congestive, hemorrhagic, and brittle with narrowing of the intestinal lumen. The bullae are tense and leave serosities. On histological examination, the intestinal wall was very congestive with hemorrhagic patches of suffusion. There were optically empty cystic formations that does not communicate with the digestive lumen. The adjacent mucosa is the site of a moderate subacute inflammatory reaction. Conclusion: Pneumatosis cystoides intestinalis is a rare and usually benign pathology. The symptoms, when they exist, are not specific. Its physiopathology is still very much debated. The prognosis is generally good. The knowledge of this pathology is necessary to avoid invasive explorations and heavy treatment without interest for the patient.
简介:肠囊性肺肿是一种罕见的疾病,其特征是存在于肠壁的气体囊肿。它可以影响消化道的不同部分。50岁以上的男性患者似乎更容易受到影响。经典地,人们反对原发性或特发性形式和继发性形式。病例报告:我们报告的情况下,62岁的女性患者治疗消化性溃疡的历史,谁提出了间歇性非典型腹痛发作,突然恶化。体格检查显示手术腹部触痛。病人接受了空肠切除术。病理检查显示宏观上可见肠碎片,浆膜下和肠顶内大泡汇合。打开时,包含大泡的部分增厚,梗死,充血性,出血,易碎,肠腔变窄。大疱紧绷,留下严重的裂痕。组织学检查显示,肠壁充血,充血斑块。可见与消化腔不相通的光学空囊性形成。邻近粘膜是中度亚急性炎症反应的部位。结论:肠囊性肺肿是一种罕见的良性疾病。这些症状即使存在,也是不具体的。其生理病理机制仍有很大争议。预后通常很好。这种病理的知识是必要的,以避免侵入性探查和沉重的治疗没有兴趣的病人。
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引用次数: 0
Intramucosal goblet cell adenocarcinoma: The evil got nipped in the bud 粘膜杯状细胞腺癌:被消灭在萌芽状态
Pub Date : 2023-05-13 DOI: 10.5348/100071z11jy2023cr
J. Yablonski, Christian D Tvetenstarnd, J. Sidhu
Introduction: Appendiceal goblet cell adenocarcinoma is a rare cancer that usually has histological features of both well-differentiated carcinoid tumors and adenocarcinomas (neuroendocrine cells are not required for the diagnosis). Appendiceal goblet cell adenocarcinoma can present as acute appendicitis, abdominal pain, a mass, or be discovered incidentally following appendectomy. Case Report: A 67-year-old female presented with signs of acute appendicitis and underwent laparoscopic appendectomy. Pathological evaluation showed evidence of both acute appendicitis/periappendicitis and an incidental appendiceal intramucosal well-differentiated adenocarcinoma in the lamina propria of a 12 mm long segment in the middle of the proximal half of the appendix. Conclusion: Appendiceal goblet cell adenocarcinoma can sometimes be an incidental finding. It can be difficult to identify it, especially when it is in the form of only a few cells and clusters of cells limited to lamina propria. This case is the first reported incidence of an intramucosal goblet cell adenocarcinoma that was present in a 12 mm long segment in the middle of the proximal half of the appendix. The location of this tumor provides justification for making submission of an appendix in its entirety for histologic examination as a standard-of-care.
阑尾杯状细胞腺癌是一种罕见的肿瘤,通常具有高分化的类癌和腺癌的组织学特征(诊断不需要神经内分泌细胞)。阑尾杯状细胞腺癌可以表现为急性阑尾炎、腹痛、肿块或在阑尾切除术后偶然发现。病例报告:一名67岁女性,表现为急性阑尾炎,行腹腔镜阑尾切除术。病理检查显示急性阑尾炎/阑尾周围炎和偶然发生的阑尾粘膜内高分化腺癌,发生在阑尾近半段中部12毫米长的固有层。结论:阑尾杯状细胞腺癌有时可能是偶然发现的。它可能难以识别,特别是当它仅以少数细胞和限于固有层的细胞簇的形式存在时。本病例是首次报道的粘膜内杯状细胞腺癌,出现在阑尾近半部中部的12毫米长段。该肿瘤的位置提供了将整个阑尾提交病理检查作为标准治疗的理由。
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引用次数: 0
Metaplastic breast cancer: A case report and literature review 乳腺癌化生1例并文献复习
Pub Date : 2023-04-05 DOI: 10.5348/100069z11lo2023cr
Dalia Y Ibrahim, Lojayne Osman
Introduction: Breast cancer is the second most common cancer among women in the United States. Metaplastic breast cancer is characterized by two or more poorly differentiated cellular types, with epithelial or mesenchymal components. Metaplastic breast carcinoma is a rare and aggressive entity, accounting for less than 1% of invasive breast cancers. Hence, there is insignificant literature and research. Few cases are described in the literature. We report a rare case of metaplastic breast carcinoma with squamous and spindle cell differentiation. Case Report: An 82-year-old female was diagnosed with metaplastic breast cancer with squamous and spindled differentiation based on histological appearance. She underwent mastectomy, and we track her radiation follow-up. Conclusion: The report reviews and corroborates existing literature regarding clinical features, histologic characteristics, and treatment methods, and explores genetic components and clinical trials underway.
简介:乳腺癌是美国女性中第二常见的癌症。化生性乳腺癌的特征是两种或多种低分化细胞类型,具有上皮或间充质成分。化生性乳腺癌是一种罕见的侵袭性肿瘤,占浸润性乳腺癌的不到1%。因此,文献和研究较少。文献中鲜有病例描述。我们报告一例罕见的乳腺癌化生伴鳞状和梭形细胞分化。病例报告:一位82岁的女性被诊断为转移性乳腺癌,根据组织学表现呈鳞状和纺锤状分化。她做了乳房切除术,我们跟踪了她的放疗随访。结论:本报告回顾并证实了现有的临床特征、组织学特征和治疗方法方面的文献,并探讨了遗传成分和正在进行的临床试验。
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引用次数: 0
Case report of pleuropulmonary blastoma: The heterogenous features of a rare primitive neoplasm of the thorax 胸膜肺母细胞瘤病例报告:罕见的胸腔原始肿瘤的异质性特征
Pub Date : 2023-03-07 DOI: 10.5348/100068z11lv2023cr
L. Akhila Vemulakonda, Yaritzy M. Astudillo, Elayna Maxx Shanker
Introduction: Pleuropulmonary blastoma (PPB) is a rare primary neoplasm of the thorax frequently diagnosed in early childhood. Pleuropulmonary blastoma arises from primitive intrathoracic mesenchyme—either pulmonary and pleural, or both. Patients with pleuropulmonary blastoma usually present with respiratory symptoms and are often misdiagnosed as pneumonia in the early clinical course. Pleuropulmonary blastoma can be further classified into types I, II, and III based on histological components. Such histological distinctions have significant implications for the treatment of these lesions as well as prognosis. Currently, the treatment of pleuropulmonary blastoma is surgical resection with or without chemotherapy, based on the histological type. Case Report: We highlight the histopathological presentation of pleuropulmonary blastoma in a 3-year-old male who presented with nonspecific symptoms. After identifying an intrathoracic mass on imaging, frozen section demonstrated primarily mature cartilaginous tissue without rhabdomyosarcomatous differentiation or anaplasia. Surgical resection specimens, however, contained small areas of proliferating spindle cells with skeletal muscle features as well as primitive blastema-like cells. Following ancillary testing, the patient was diagnosed with a type II PPB. Conclusion: This case illustrates the challenges of using frozen sections to diagnose heterogenous neoplasms such as PPB. The histologic features of this patient’s tumor identified on frozen section were largely mature and benign-appearing. Only when considering the histology of the surgical specimens in combination with immunohistochemistry and gross morphology, we were able to make an accurate assessment about the type of PPB and corresponding prognosis and treatment plan. Therefore, we urge pathologists to consider PPB for large thoracic masses in pediatric patients.
摘要胸膜肺母细胞瘤(Pleuropulmonary blastoma, PPB)是一种罕见的胸腔原发肿瘤,常见于儿童早期。胸膜肺母细胞瘤起源于原始胸内间充质,要么是肺间充质,要么是胸膜间充质。胸膜肺母细胞瘤患者通常表现为呼吸道症状,在临床早期常被误诊为肺炎。胸膜肺母细胞瘤根据组织学成分可进一步分为I型、II型和III型。这种组织学差异对这些病变的治疗和预后具有重要意义。目前,胸膜肺母细胞瘤的治疗方法是手术切除加化疗或不加化疗,根据组织学类型而定。病例报告:我们强调组织病理学的胸膜肺母细胞瘤在一个3岁的男性谁提出了非特异性症状。在影像学上发现胸内肿块后,冷冻切片显示主要是成熟的软骨组织,没有横纹肌肉瘤分化或发育不全。然而,手术切除标本中含有具有骨骼肌特征的小区域增殖梭形细胞以及原始胚母样细胞。经过辅助检查,患者被诊断为II型PPB。结论:本病例说明了使用冷冻切片诊断异质肿瘤(如PPB)的挑战。该患者的肿瘤在冷冻切片上的组织学特征主要是成熟和良性的。只有结合手术标本的组织学,结合免疫组织化学和大体形态学,我们才能准确评估PPB的类型以及相应的预后和治疗方案。因此,我们敦促病理学家考虑PPB对儿童患者的大胸部肿块。
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引用次数: 0
Idiopathic calcinosis cutis with unusual histomorphology and negative von Kossa stain: A diagnostic pitfall 具有异常组织形态和冯·科萨染色阴性的特发性皮肤钙质病:一个诊断缺陷
Pub Date : 2023-02-23 DOI: 10.5348/100067z11ti2023cr
Trent Irwin, Mugahed Hamza, E. George, Ata S Moshiri
Introduction: Calcinosis cutis is characterized by basophilic crystalline or amorphous calcium within the dermis/subcutis. Calcinosis cutis has many different clinical subtypes and associated etiologies that may lead clinicians to consider this diagnosis. Von Kossa and/or Alizarin red special stains may be used by pathologists to highlight deposition of insoluble calcium salts, especially in histologically ambiguous or subtle cases. Case Report: We report the case of a 27-year-old male who presented with an inferior right buttock mass clinically diagnosed as epidermal inclusion cyst(s). Gross pathology revealed a gray-white pasty substance within a cyst-like structure. Histopathologic examination demonstrated pools of amorphous blue-gray material with rare deposits of admixed coarse calcifications surrounded by foreign-body giant cells. No cyst wall was seen in the specimen. Special stains, including von Kossa, were initially negative. Following additional review, it was discovered that surface decalcifying solution had been applied to the paraffin block in the histology lab prior to microtome sectioning. Hypothesizing that this could be the cause of the unusual morphology, the paraffin block was reprocessed and subsequent H and E stained sections displayed characteristic basophilic calcium deposits, which were correspondingly positive by von Kossa stain. Conclusion: The histopathologic diagnosis of calcinosis cutis is apparent by HandE in most cases, though von Kossa and/or Alizarin red special stains can be used to aid the pathologist. Given the unusual histomorphology following surface decalcification and initial lack of von Kossa stain prior to reprocessing, this report serves to make pathologists aware of this potential diagnostic pitfall.
皮肤钙质沉着症的特征是真皮/皮下出现嗜碱性结晶或无定形钙。皮肤钙质沉着症有许多不同的临床亚型和相关的病因,可能导致临床医生考虑这种诊断。Von Kossa和/或茜素红特殊染色可用于病理学家突出不溶性钙盐的沉积,特别是在组织学模糊或微妙的情况下。病例报告:我们报告一个27岁男性的病例,他表现为右臀部下肿块,临床诊断为表皮包涵性囊肿。大体病理示囊肿样结构内灰白色糊状物质。组织病理学检查显示无定形蓝灰色物质池,夹杂着罕见的混杂粗钙化沉积物,周围环绕着异物巨细胞。标本未见囊壁。一些特殊的染色,包括冯·科萨染色,最初是阴性的。经过进一步的检查,发现在切片之前,在组织学实验室中石蜡块上应用了表面脱钙溶液。假设这可能是导致异常形态的原因,对石蜡块进行再处理,随后的H和E染色切片显示特征性的亲碱性钙沉积,von Kossa染色相应呈阳性。结论:尽管von Kossa和/或茜素红特殊染色可以帮助病理学家进行诊断,但大多数病例的组织病理学诊断是明显的。考虑到表面脱钙后不寻常的组织形态和在再处理前最初缺乏von Kossa染色,本报告有助于使病理学家意识到这种潜在的诊断缺陷。
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引用次数: 0
Solitary nodule of cutaneous reticulohistiocytosis: A case report 皮肤网状组织细胞增多症的孤立结节1例
Pub Date : 2022-12-31 DOI: 10.5348/100066z11jf2022cr
Jeffrey E Fournier, Tiffany Shao, S. Popovic, S. Alowami
Introduction: Solitary cutaneous reticulohistiocytosis represents a rare form of benign monocyte/macrophage proliferation. On routine histology, these lesions are typically described as large cells with cytoplasm showing ground glass appearance and giant cells. They grow up to 1 cm in size with rare cases exceeding this size. Case Report: This case report of a 28-year-old male demonstrated a nodule of reticulohistiocytosis measuring 2.2 cm in size. Microscopic features showed a well-demarcated nodule in the dermis with large histiocytes with ground-glass eosinophilic cytoplasm, giant cells, and foamy macrophages in a background of mixed inflammatory cells. Immunohistochemical staining showed positive staining for vimentin, CD68, CD31, with focal and patchy positivity for S100, CD43, and CD45 and negative staining for CD1a, langerin, CD21, CD23, CD30, CD34, ERG, D2-40, AE1/AE3, epithelial membrane antigen (EMA), smooth muscle actin (SMA), myogenin, desmin, SOX10, HMB-45, tyrosinase, and MelanA. Conclusion: The microscopic and immunohistochemical findings are characteristic of this entity but it is important to recognize for proper management and differentiation from other malignant lesions.
孤立性皮肤网状组织细胞增多症是一种罕见的良性单核细胞/巨噬细胞增生。在常规组织学上,这些病变通常被描述为大细胞,细胞质呈磨砂玻璃样和巨细胞。它们长到1厘米大小,很少有超过这个大小的。病例报告:本病例报告一28岁男性,表现为网状组织细胞增生的结节,大小为2.2厘米。显微镜下可见真皮内一个界限清晰的结节,大的组织细胞伴磨玻璃嗜酸性细胞质、巨细胞和泡沫状巨噬细胞,背景中混杂着炎性细胞。免疫组化染色显示vimentin、CD68、CD31呈阳性,S100、CD43、CD45呈局灶性和斑片状阳性,CD1a、langerin、CD21、CD23、CD30、CD34、ERG、D2-40、AE1/AE3、上皮膜抗原(EMA)、平滑肌肌动蛋白(SMA)、肌原素、desmin、SOX10、HMB-45、酪氨酸酶和MelanA呈阴性。结论:显微镜和免疫组化的表现是本病的特征,但对正确的治疗和与其他恶性病变的鉴别是很重要的。
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引用次数: 0
Next-generation sequencing proves clonal relationship between two distinguished lung and liver carcinomas by standard histopathology approach 新一代测序通过标准组织病理学方法证实了两种不同的肺癌和肝癌之间的克隆关系
Pub Date : 2022-12-22 DOI: 10.5348/100064z11el2022cr
Tian Li, John Diks, Snow Trinh Nguyen, Jianying Zeng, Neil Chen, S. Vignesh
Introduction: Two tumors having different histopathologies at anatomically distinct sites giving the picture of dual primary malignancies. Here we presented a case of two possible primary tumors and one secondary mass. Case Report: A 74-year-old female, active smoker, without personal or family cancer history presented with early satiety and weakness for two months. Systems review was positive for a “raw” feeling in stomach, alleviated with antacids. Vital signs were stable with a negative abdominal exam. Lab showed leukocytosis 24.8 K/uL (3.5–10.8 K/uL) with left shift, microcytic anemia with hemoglobin 6.1 g/dL (12.0–16.0 g/dL), and reactive thrombocytosis 477 K/uL (130–400 K/uL). Contrast-enhanced computed tomography (CT) showed right upper lobe necrotizing cavitating lesion with reactive mediastinal and right hilar lymphadenopathy, two irregular hypodense lesions in pancreatic head and tail without ductal dilation with two irregular hypodense liver lesions. Immunohistochemistry of lung and pancreatic lesions were biopsied through endoscopic ultrasound (EUS), consistent with poorly differentiated squamous cell carcinoma (SCC) with extensive necrosis, which indicates pancreatic masses are likely metastases from the lung. Liver lesion biopsy exhibited high-grade neuroendocrine tumor (NET) with focal necrosis. Next gene sequencing was pursued. Given poor functional status, palliative immunotherapy was offered; however, the patient succumbed to respiratory failure. Conclusion: Given the morphology and immunoprofile, differential diagnosis includes dual primary cancers with one metastasis, or primary SCC with metastasis with neuroendocrine differentiation. Despite having different histopathology and immunophenotype, both lung and liver tumors harbor the same molecular profile even at the variants of unknown significance that show identical mutations. As a result, they are directly related. TP53, RB1, MYCL1, and MEK1 mutations are more prevalent in SCC than NET. Tumor mutation burden values may vary as the tumor clonal structure varies between primary and metastatic sites, with higher rates of monoclonal structure recorded in metastases due to clonal selection, leading to a reduction in overall genetic diversity (“bottlenecking”). This raises the suspicion that the liver tumor is a SCC with neuroendocrine differentiation. The paucity of the specimen and rapid clinical course limited further investigation. Germline testing would have been useful to determine whether these findings are somatic or germline.
两个肿瘤在解剖学上不同的部位具有不同的组织病理学,给出了双重原发性恶性肿瘤的图像。我们在此报告一个可能有两个原发肿瘤和一个继发肿块的病例。病例报告:74岁女性,活跃吸烟者,无个人或家族癌症病史,表现为早饱腹和虚弱两个月。系统检查显示胃有“生涩”的感觉,用抗酸剂缓解。生命体征稳定,腹部检查呈阴性。实验室显示白细胞增多24.8 K/uL (3.5-10.8 K/uL)左移,小细胞贫血血红蛋白6.1 g/dL (12.0-16.0 g/dL),反应性血小板增多477 K/uL (130-400 K/uL)。CT增强扫描显示右上肺叶坏死性空化灶伴纵隔反应性淋巴结及右肺门淋巴结病变,胰头尾2个不规则低密度灶,无导管扩张,肝脏2个不规则低密度灶。内镜超声(EUS)对肺和胰腺病变进行免疫组化检查,结果与低分化鳞状细胞癌(SCC)伴广泛坏死一致,提示胰腺肿块可能从肺转移。肝组织活检显示高级别神经内分泌肿瘤伴局灶性坏死。接下来进行基因测序。由于功能状况不佳,提供姑息性免疫治疗;然而,病人死于呼吸衰竭。结论:考虑到形态学和免疫特征,鉴别诊断应包括双原发癌合并一转移或原发SCC合并神经内分泌分化。尽管具有不同的组织病理学和免疫表型,但肺和肝肿瘤具有相同的分子谱,即使在未知意义的变异中也表现出相同的突变。因此,它们是直接相关的。TP53、RB1、MYCL1和MEK1突变在SCC中比NET更普遍。肿瘤突变负担值可能随着肿瘤克隆结构在原发位点和转移位点之间的差异而变化,由于克隆选择,转移中记录的单克隆结构率更高,导致整体遗传多样性降低(“瓶颈”)。这引起了肝肿瘤为神经内分泌分化的SCC的怀疑。标本的缺乏和快速的临床过程限制了进一步的研究。生殖系测试对于确定这些发现是体细胞还是生殖系是有用的。
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引用次数: 0
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Journal of Case Reports and Images in Pathology
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