Human Pathology Reports最新文献

英文中文

A camouflaging mystery: solid-tubulocystic variant of intrahepatic cholangiocarcinoma 一个伪装的谜团：肝内胆管癌的固体管性变异型

Human Pathology Reports

Pub Date : 2025-09-30 DOI: 10.1016/j.hpr.2025.300797

Shannon Zhang , Nazmul Hasan , John Han , Gianna Kroening , Zeljka Jutric , Ali Afsari , Shirin Attarian , Jennifer Valerin

Cholangiocarcinoma is a rare and aggressive malignancy with a rising incidence in recent years. Known risk factors include cirrhosis, alcohol use, smoking history, family history of bile duct cancer, male gender, and hepatitis B and/or C. The solid-tubulocystic variant of intrahepatic cholangiocarcinoma, previously named cholangioblastic variant, is an even rarer form with only several cases reported in literature to date. Interestingly, this variant is not associated with the same risk factors as typical cholangiocarcinoma, often diagnosed in young, previously healthy females. Given its rarity, diagnosis is often delayed and optimal treatment is unknown, leading to poor prognosis. Here, we discuss the case of an 18-year-old female admitted to our hospital with solid-tubulocystic variant of cholangiocarcinoma, in which molecular analysis confirmed the presence of a characteristic NIPBL-NACC1 gene rearrangement, and our management.

胆管癌是一种罕见的侵袭性恶性肿瘤，近年来发病率呈上升趋势。已知的危险因素包括肝硬化、饮酒、吸烟史、胆管癌家族史、男性、乙型和/或丙型肝炎。肝内胆管癌的实管性变型，以前被称为胆管母细胞变型，是一种更为罕见的形式，迄今文献中仅报道了几例。有趣的是，这种变异与典型胆管癌的危险因素不同，后者通常在年轻、健康的女性中被诊断出来。由于它的罕见性，诊断往往被延误，最佳治疗是未知的，导致预后不良。在这里，我们讨论一位18岁的女性患者，她患有固体管囊性胆管癌，分子分析证实了NIPBL-NACC1基因重排的存在，以及我们的处理方法。

引用次数: 0

An incidental B-lymphoblastic leukemia/lymphoma in a prophylactic salpingo-oophorectomy from a patient with germline BRCA1 mutation 一种系BRCA1突变患者行预防性输卵管卵巢切除术后偶发b淋巴母细胞白血病/淋巴瘤

Human Pathology Reports

Pub Date : 2025-09-19 DOI: 10.1016/j.hpr.2025.300795

Ukuemi Edema , Alexander Chan

B-lymphoblastic leukemia/lymphoma (B-ALL) is a malignant neoplasm of immature B lymphocytes. Occasionally, B-ALL may exhibit morphological and immunophenotypic overlaps with other hematologic malignancies such as B-ALL with isolated myeloperoxidase (MPO) expression which may complicate diagnosis. BRCA1 and BRCA2 are tumor suppressor genes involved in homologous recombination and DNA repair. While germline mutations in these genes are well-established risk factors for breast and ovarian cancers, the association between BRCA1/2 mutations and hematologic malignancies remains underexplored. We present a rare case of B-ALL with isolated MPO expression, discovered incidentally in prophylactically resected ovaries of a patient with a germline BRCA1 mutation, and review the literature exploring this potential association.

B淋巴母细胞白血病/淋巴瘤（B- all）是一种未成熟B淋巴细胞的恶性肿瘤。偶尔，B-ALL可能表现出形态和免疫表型与其他血液学恶性肿瘤重叠，如B-ALL伴分离性髓过氧化物酶（MPO）表达，这可能使诊断复杂化。BRCA1和BRCA2是参与同源重组和DNA修复的肿瘤抑制基因。虽然这些基因的种系突变是乳腺癌和卵巢癌的公认危险因素，但BRCA1/2突变与血液恶性肿瘤之间的关系仍未得到充分探讨。我们报告了一例罕见的B-ALL伴分离MPO表达的病例，该病例偶然发现于一位种系BRCA1突变患者的预防性切除卵巢，并回顾了探讨这种潜在关联的文献。

引用次数: 0

Multiple pulmonary spindle cell hemangiomas with IDH1 mutation in Maffucci syndrome Maffucci综合征多发肺梭形细胞血管瘤伴IDH1突变

Human Pathology Reports

Pub Date : 2025-09-15 DOI: 10.1016/j.hpr.2025.300796

Daffolyn Rachael Fels Elliott , Kavya Nataraj , Melissa B. Carroll , Rashna Madan , Benjamin C. Powers

Maffucci syndrome is characterized by multiple enchondromas and vascular lesions including spindle cell hemangiomas that typically arise in cutaneous or soft tissue of the extremities. The pathogenesis involves sporadic mutations in IDH1/2 genes that occur early during embryogenesis leading to mosaicism in affected tissues. The prognosis is variable in Maffucci syndrome, and patients have an increased risk of developing malignancies. We present a rare case of multiple spindle cell hemangiomas of the lung in a 41-year-old woman with Maffucci syndrome. She was found to have numerous lung nodules that were slowly progressive on surveillance CT imaging. The radiologic differential diagnosis included diffuse neuroendocrine cell hyperplasia (DIPNECH) with multiple carcinoid tumors and pulmonary metastases. A diagnosis of spindle cell hemangiomas was made following surgical lung wedge biopsy, and PCR detected an IDH1 mutation in codon 132. Annual surveillance whole body and brain MRI showed no new or enlarging lesions one year after her lung biopsy. In conclusion, spindle cell hemangiomas are a rare cause of pulmonary nodules and may arise in the setting of Maffucci syndrome. The lungs are a common site of metastasis from malignancies associated with Maffucci syndrome, but other entities should be kept in the differential diagnosis and may require biopsy for definitive diagnosis.

Maffucci综合征的特征是多发内生纤维瘤和血管病变，包括通常出现在四肢皮肤或软组织的梭形细胞血管瘤。发病机制涉及发生在胚胎发生早期的IDH1/2基因的散发性突变，导致受影响组织的嵌合。Maffucci综合征的预后是可变的，患者发展为恶性肿瘤的风险增加。我们提出一个罕见的病例多梭形细胞血管瘤的肺在一个41岁的妇女与马菲奇综合征。在监视CT上发现有许多缓慢进展的肺结节。影像学鉴别诊断为弥漫性神经内分泌细胞增生（DIPNECH）伴多发性类癌及肺转移。手术肺楔形活检后诊断为梭形细胞血管瘤，PCR检测到密码子132的IDH1突变。年度监测全身和脑部MRI显示肺活检一年后没有新的或扩大的病变。总之，梭形细胞血管瘤是一种罕见的肺结节的原因，并可能出现在设置马菲奇综合征。肺是与Maffucci综合征相关的恶性肿瘤转移的常见部位，但其他部位应保留在鉴别诊断中，可能需要活检才能确诊。

{"title":"Multiple pulmonary spindle cell hemangiomas with IDH1 mutation in Maffucci syndrome","authors":"Daffolyn Rachael Fels Elliott , Kavya Nataraj , Melissa B. Carroll , Rashna Madan , Benjamin C. Powers","doi":"10.1016/j.hpr.2025.300796","DOIUrl":"10.1016/j.hpr.2025.300796","url":null,"abstract":"<div><div>Maffucci syndrome is characterized by multiple enchondromas and vascular lesions including spindle cell hemangiomas that typically arise in cutaneous or soft tissue of the extremities. The pathogenesis involves sporadic mutations in <em>IDH1/2</em> genes that occur early during embryogenesis leading to mosaicism in affected tissues. The prognosis is variable in Maffucci syndrome, and patients have an increased risk of developing malignancies. We present a rare case of multiple spindle cell hemangiomas of the lung in a 41-year-old woman with Maffucci syndrome. She was found to have numerous lung nodules that were slowly progressive on surveillance CT imaging. The radiologic differential diagnosis included diffuse neuroendocrine cell hyperplasia (DIPNECH) with multiple carcinoid tumors and pulmonary metastases. A diagnosis of spindle cell hemangiomas was made following surgical lung wedge biopsy, and PCR detected an <em>IDH1</em> mutation in codon 132. Annual surveillance whole body and brain MRI showed no new or enlarging lesions one year after her lung biopsy. In conclusion, spindle cell hemangiomas are a rare cause of pulmonary nodules and may arise in the setting of Maffucci syndrome. The lungs are a common site of metastasis from malignancies associated with Maffucci syndrome, but other entities should be kept in the differential diagnosis and may require biopsy for definitive diagnosis.</div></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"42 ","pages":"Article 300796"},"PeriodicalIF":0.0,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145097342","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

Novel association of CHEK2 mutation in gastrointestinal stromal tumor: A case report and literature review CHEK2突变与胃肠道间质瘤的新关联：1例报告和文献复习

Human Pathology Reports

Pub Date : 2025-09-11 DOI: 10.1016/j.hpr.2025.300794

Trevor T Hu , Joyce Pazhyattil , Allison M. Richman , Kathryn Henderson , Darren Groh , Ahmed F. Abdulrahim

Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract, typically driven by mutations in c-KIT or PDGFRA. The CHEK2 gene encodes a checkpoint kinase involved in DNA damage response and has been implicated in hereditary cancer syndromes. However, its role in GIST pathogenesis remains unexplored. We report the case of a 67-year-old male with recurrent GIST who was found to harbor a CHEK2 mutation. The patient initially presented with an abdominal mass, and histopathologic evaluation confirmed a spindle cell neoplasm with strong immunoreactivity for CD117, DOG1, and CD34. Molecular analysis identified a pathogenic CHEK2 mutation, a finding not previously described in GIST. The patient was managed with surgical resection following imatinib therapy, with ongoing surveillance for recurrence. The discovery of a CHEK2 mutation in GIST raises important questions about its potential role in tumorigenesis and therapeutic response. Given the established involvement of CHEK2 in genomic stability and checkpoint regulation, its presence in GIST warrants further investigation. This case highlights the need to explore CHEK2 mutations in larger cohorts to determine their clinical significance and potential impact on treatment strategies. This case represents the first reported association of CHEK2 mutation with GIST, expanding the known genetic landscape of this tumor. Further studies are necessary to elucidate the implications of this mutation in GIST pathophysiology and treatment.

胃肠道间质瘤（gist）是胃肠道最常见的间质肿瘤，通常由c-KIT或PDGFRA突变驱动。CHEK2基因编码参与DNA损伤反应的检查点激酶，并与遗传性癌症综合征有关。然而，其在GIST发病机制中的作用仍未被探索。我们报告的情况下，67岁男性复发GIST谁被发现窝藏CHEK2突变。患者最初表现为腹部肿块，组织病理学检查证实为梭形细胞肿瘤，对CD117、DOG1和CD34具有很强的免疫反应性。分子分析鉴定出一种致病性CHEK2突变，这一发现以前未在GIST中描述过。患者在伊马替尼治疗后进行手术切除，并持续监测复发。GIST中CHEK2突变的发现提出了关于其在肿瘤发生和治疗反应中的潜在作用的重要问题。鉴于CHEK2参与基因组稳定性和检查点调节，其在GIST中的存在值得进一步研究。该病例强调需要在更大的队列中探索CHEK2突变，以确定其临床意义和对治疗策略的潜在影响。该病例代表了首次报道的CHEK2突变与GIST的关联，扩大了该肿瘤的已知遗传格局。需要进一步的研究来阐明这种突变在GIST病理生理和治疗中的意义。

{"title":"Novel association of CHEK2 mutation in gastrointestinal stromal tumor: A case report and literature review","authors":"Trevor T Hu , Joyce Pazhyattil , Allison M. Richman , Kathryn Henderson , Darren Groh , Ahmed F. Abdulrahim","doi":"10.1016/j.hpr.2025.300794","DOIUrl":"10.1016/j.hpr.2025.300794","url":null,"abstract":"<div><div>Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract, typically driven by mutations inor <em>CHEK2</em>   <em>CHEK2</em>  <em>CHEK2</em>   <em>CHEK2</em>  <em>CHEK2</em>  <em>CHEK2</em>  <em>CHEK2</em> <!-->mutation with GIST, expanding the known genetic landscape of this tumor. Further studies are necessary to elucidate the implications of this mutation in GIST pathophysiology and treatment.</div></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"42 ","pages":"Article 300794"},"PeriodicalIF":0.0,"publicationDate":"2025-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145049902","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

Leiomyosarcoma of the right gonadal vein; A case report with review of literature 右性腺静脉平滑肌肉瘤；病例报告一篇，并附文献复习

Human Pathology Reports

Pub Date : 2025-09-09 DOI: 10.1016/j.hpr.2025.300793

Abrar G. Alghamdi , Deema Anaam , Khalid Alwadi

Leiomyosarcoma (LMS) is a malignant tumor of smooth muscle cells. When the tumor originates from a blood vessel, it arises from the smooth muscle cells in the tunica media of the vessel wall. Approximately 15 % of soft tissue sarcomas originate in the retroperitoneum (Kotilingam et al., 2006) [1]. However, LMS of the gonadal vein is extremely rare, with fewer than 15 documented cases. This emphasizes not only its rarity but also the narrow insight into its clinical behaviour and management. Here, we discuss a 42-year-old female patient who presented to our institution with a palpable abdominal mass that had been noticeable for two months. A computed tomography (CT) scan of her abdomen and pelvis revealed a large, irregular right adnexal mass measuring approximately 13 cm, with areas of necrosis and cystic degeneration, resulting in a heterogenous appearance. During surgical resection, the mass appeared to originate from the gonadal vein. Histopathological examination confirmed a diagnosis of leiomyosarcoma. In this article, we review the clinical, radiologic, and histopathologic features of gonadal vein leiomyosarcoma, along with a review of similar case reports.

平滑肌肉瘤（LMS）是一种平滑肌细胞恶性肿瘤。当肿瘤起源于血管时，它起源于血管壁中膜的平滑肌细胞。大约15%的软组织肉瘤起源于腹膜后（Kotilingam et al., 2006）。然而，性腺静脉的LMS极为罕见，文献记载的病例少于15例。这不仅强调了它的罕见性，而且强调了对其临床行为和管理的狭隘见解。在这里，我们讨论一位42岁的女性患者，她以可触及的腹部肿块就诊，该肿块已明显两个月。腹部和骨盆的CT扫描显示右侧附件有一个大的不规则肿块，大小约为13厘米，伴有坏死和囊性变性，导致异质外观。手术切除时，肿块似乎起源于性腺静脉。组织病理学检查证实为平滑肌肉瘤。在这篇文章中，我们回顾了性腺静脉平滑肌肉瘤的临床、放射学和组织病理学特征，并回顾了类似的病例报告。

{"title":"Leiomyosarcoma of the right gonadal vein; A case report with review of literature","authors":"Abrar G. Alghamdi , Deema Anaam , Khalid Alwadi","doi":"10.1016/j.hpr.2025.300793","DOIUrl":"10.1016/j.hpr.2025.300793","url":null,"abstract":"<div><div>Leiomyosarcoma (LMS) is a malignant tumor of smooth muscle cells. When the tumor originates from a blood vessel, it arises from the smooth muscle cells in the tunica media of the vessel wall. Approximately 15 % of soft tissue sarcomas originate in the retroperitoneum (Kotilingam et al., 2006) [<span><span>1</span></span>]. However, LMS of the gonadal vein is extremely rare, with fewer than 15 documented cases. This emphasizes not only its rarity but also the narrow insight into its clinical behaviour and management. Here, we discuss a 42-year-old female patient who presented to our institution with a palpable abdominal mass that had been noticeable for two months. A computed tomography (CT) scan of her abdomen and pelvis revealed a large, irregular right adnexal mass measuring approximately 13 cm, with areas of necrosis and cystic degeneration, resulting in a heterogenous appearance. During surgical resection, the mass appeared to originate from the gonadal vein. Histopathological examination confirmed a diagnosis of leiomyosarcoma. In this article, we review the clinical, radiologic, and histopathologic features of gonadal vein leiomyosarcoma, along with a review of similar case reports.</div></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"42 ","pages":"Article 300793"},"PeriodicalIF":0.0,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145027751","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

The Milestones of Human Pathology Reports 人类病理学报告的里程碑

Human Pathology Reports

Pub Date : 2025-09-01 DOI: 10.1016/j.hpr.2025.300770

Shi Wei MD, PhD (Editor-in-Chief)

引用次数: 0

Pilomatrix carcinoma-like gallbladder carcinoma 样胆囊癌

Human Pathology Reports

Pub Date : 2025-09-01 DOI: 10.1016/j.hpr.2025.300790

Keiichi Kinowaki , Julie S. Deutsch , Marina Baretti , William R. Burns , Kiyoko Oshima

Pilomatrix carcinoma (PC) is a malignant cutaneous tumor characterized by ghost cell keratinization, nuclear positivity for β-catenin, and mutations in catenin beta 1 (CTNNB1) exon 3. We report the first documented case of a primary gallbladder tumor exhibiting a PC-like phenotype with a CTNNB1 exon 3 mutation. The patient was a 74-year-old female who presented with a rapidly enlarging hepatic tumor. The tumor did not respond to preoperative chemotherapy but was removed with surgery. Histopathological examination of resection specimens revealed neoplastic cells forming solid nests of varying sizes, accompanied by ghost cell keratinization and necrosis. Immunohistochemical analysis demonstrated diffusely aberrant nuclear and cytoplasmic β-catenin staining. Molecular testing revealed a CTNNB1 exon 3 mutation. These findings were consistent with a PC-like phenotype. The patient was unresponsive to postoperative chemotherapy and developed pulmonary metastases, leading to death four months after surgery. The tumor is notable for its rapid progression and poor prognosis, highlighting the clinical significance of recognizing this rare histological subtype. To our knowledge, this is the first reported case of a gallbladder neoplasm exhibiting the full spectrum of histopathological and molecular features characteristic of PC, including the CTNNB1 exon 3 mutation.

毛基质癌（PC）是一种恶性皮肤肿瘤，其特征是鬼细胞角化、β-连环蛋白核阳性和连环蛋白β 1 （CTNNB1）外显子3突变。我们报告了第一例原发性胆囊肿瘤，表现为pc样表型，伴有CTNNB1外显子3突变。患者为74岁女性，表现为肝肿瘤迅速扩大。术前化疗无效，手术切除肿瘤。切除标本的组织病理学检查显示肿瘤细胞形成大小不一的实巢，伴有鬼细胞角化和坏死。免疫组化分析显示细胞核和细胞质β-连环蛋白染色弥漫性异常。分子检测显示CTNNB1外显子3突变。这些发现与pc样表型一致。患者对术后化疗无反应，并发生肺转移，导致术后4个月死亡。该肿瘤进展迅速，预后差，突出了认识这种罕见的组织学亚型的临床意义。据我们所知，这是首次报道的胆囊肿瘤表现出PC的全部组织病理学和分子特征，包括CTNNB1外显子3突变。

{"title":"Pilomatrix carcinoma-like gallbladder carcinoma","authors":"Keiichi Kinowaki , Julie S. Deutsch , Marina Baretti , William R. Burns , Kiyoko Oshima","doi":"10.1016/j.hpr.2025.300790","DOIUrl":"10.1016/j.hpr.2025.300790","url":null,"abstract":"<div><div>Pilomatrix carcinoma (PC) is a malignant cutaneous tumor characterized by ghost cell keratinization, nuclear positivity for β-catenin, and mutations in <em>catenin beta 1 (CTNNB1)</em> exon 3. We report the first documented case of a primary gallbladder tumor exhibiting a PC-like phenotype with a <em>CTNNB1</em> exon 3 mutation. The patient was a 74-year-old female who presented with a rapidly enlarging hepatic tumor. The tumor did not respond to preoperative chemotherapy but was removed with surgery. Histopathological examination of resection specimens revealed neoplastic cells forming solid nests of varying sizes, accompanied by ghost cell keratinization and necrosis. Immunohistochemical analysis demonstrated diffusely aberrant nuclear and cytoplasmic β-catenin staining. Molecular testing revealed a <em>CTNNB1</em> exon 3 mutation. These findings were consistent with a PC-like phenotype. The patient was unresponsive to postoperative chemotherapy and developed pulmonary metastases, leading to death four months after surgery. The tumor is notable for its rapid progression and poor prognosis, highlighting the clinical significance of recognizing this rare histological subtype. To our knowledge, this is the first reported case of a gallbladder neoplasm exhibiting the full spectrum of histopathological and molecular features characteristic of PC, including the <em>CTNNB1</em> exon 3 mutation.</div></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"41 ","pages":"Article 300790"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144922549","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

Disseminated iatrogenic Kaposi sarcoma in an individual with autoimmune hemolytic anemia from India– A rare case report 弥散性医源性卡波西肉瘤一例印度自身免疫性溶血性贫血病例报告

Human Pathology Reports

Pub Date : 2025-09-01 DOI: 10.1016/j.hpr.2025.300778

Dhivya Nanjundamoorthi , Suganthi Krishnamurthy , Prabhu Pandurangan

Kaposi sarcoma is a rare vascular neoplasm associated with Kaposi’s sarcoma-associated Herpesvirus infection. There are four clinical forms of KS, of which Classic and Iatrogenic Kaposi Sarcoma are rare in India. Our patient, a middle-aged woman, presented with generalized lymphadenopathy along with papulonodular skin lesions in the right thigh and gingival mucosa, with an antecedent history of Autoimmune hemolytic anaemia (AIHA) treated with corticosteroids. The histopathology of the lymph node excision revealed a Vaso formative lesion with proliferative spindle cells expressing ERG, CD31, CD34 and Human Herpes virus 8 (HHV8) by immunohistochemistry. The patient was tested seronegative for HIV 1 and 2. Hence, a diagnosis of Kaposi Sarcoma with disseminated mucosal and lymph node metastasis was established. The patient was administered systemic chemotherapy with Liposomal Doxorubicin and is on regular follow-up with no disease progression. We present this case due to its rarity of presentation in an individual of Indian ethnicity preceded by corticosteroid therapy for AIHA for a 6-month duration.

卡波西肉瘤是一种罕见的血管肿瘤，与卡波西肉瘤相关的疱疹病毒感染有关。有四种临床形式的KS，其中经典和医源性卡波西肉瘤是罕见的在印度。我们的患者是一名中年妇女，表现为广泛性淋巴结病，并伴有右大腿和牙龈粘膜丘疹样皮肤病变，既往有使用皮质类固醇治疗的自身免疫性溶血性贫血（AIHA）病史。淋巴结切除术的组织病理学显示，血管形成性病变伴增殖梭形细胞，免疫组化表达ERG、CD31、CD34和人疱疹病毒8 （HHV8）。患者HIV 1和2血清检测呈阴性。因此，卡波西肉瘤伴弥散性粘膜及淋巴结转移的诊断得以确立。患者接受了阿霉素脂质体的全身化疗，并定期随访，无疾病进展。我们之所以提出这个病例，是因为它罕见地出现在印度种族的个体中，在接受AIHA的皮质类固醇治疗之前持续了6个月。

{"title":"Disseminated iatrogenic Kaposi sarcoma in an individual with autoimmune hemolytic anemia from India– A rare case report","authors":"Dhivya Nanjundamoorthi , Suganthi Krishnamurthy , Prabhu Pandurangan","doi":"10.1016/j.hpr.2025.300778","DOIUrl":"10.1016/j.hpr.2025.300778","url":null,"abstract":"<div><div>Kaposi sarcoma is a rare vascular neoplasm associated with Kaposi’s sarcoma-associated Herpesvirus infection. There are four clinical forms of KS, of which Classic and Iatrogenic Kaposi Sarcoma are rare in India. Our patient, a middle-aged woman, presented with generalized lymphadenopathy along with papulonodular skin lesions in the right thigh and gingival mucosa, with an antecedent history of Autoimmune hemolytic anaemia (AIHA) treated with corticosteroids. The histopathology of the lymph node excision revealed a Vaso formative lesion with proliferative spindle cells expressing ERG, CD31, CD34 and Human Herpes virus 8 (HHV8) by immunohistochemistry. The patient was tested seronegative for HIV 1 and 2. Hence, a diagnosis of Kaposi Sarcoma with disseminated mucosal and lymph node metastasis was established. The patient was administered systemic chemotherapy with Liposomal Doxorubicin and is on regular follow-up with no disease progression. We present this case due to its rarity of presentation in an individual of Indian ethnicity preceded by corticosteroid therapy for AIHA for a 6-month duration.</div></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"41 ","pages":"Article 300778"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145007659","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

Complex interplay of Epstein-Barr virus-associated lymphoproliferative disorder, angioimmunoblastic T-cell lymphoma, and paraneoplastic syndromes: A case report eb病毒相关淋巴细胞增生性疾病、血管免疫母细胞t细胞淋巴瘤和副肿瘤综合征的复杂相互作用：1例报告

Human Pathology Reports

Pub Date : 2025-08-28 DOI: 10.1016/j.hpr.2025.300791

Jacob Fiedler , D.O. Caterina Aiello , Tabinda Jawaid , Carinne Anderson , Alla Rudinskaya , Vincent Rella , Jeffrey West , Gunjan Gupta , Paul Fiedler

We report a diagnostically challenging case of a 66-year-old woman with EBV-positive polymorphic B-cell lymphoproliferative disorder (LPD), angioimmunoblastic T-cell lymphoma (AITL), and endometrial adenocarcinoma. Her initial presentation with RS3PE syndrome and a cutaneous eruption mimicking inflammatory breast carcinoma delayed recognition of underlying lymphoid malignancy. Skin biopsy revealed EBV + LPD, and months later she was diagnosed with AITL via lymph node biopsy. All three neoplasms have been linked to elevated vascular endothelial growth factor (VEGF), suggesting a shared pathogenic pathway. This case underscores the importance of considering EBV + LPD as a potential early marker of TFH lymphoma, especially in immunosenescent patients, and raises the possibility of RS3PE as a paraneoplastic harbinger of VEGF-driven disease. Multidisciplinary evaluation was essential to untangle the overlapping clinical and pathological findings.

我们报告一个诊断具有挑战性的病例，66岁的女性患有ebv阳性多形性b细胞增生性疾病（LPD），血管免疫母细胞t细胞淋巴瘤（AITL）和子宫内膜腺癌。她最初的表现是RS3PE综合征和类似炎症性乳腺癌的皮肤爆发，延迟了对潜在淋巴恶性肿瘤的认识。皮肤活检显示EBV + LPD，数月后通过淋巴结活检诊断为AITL。这三种肿瘤都与血管内皮生长因子（VEGF）升高有关，提示有共同的致病途径。该病例强调了将EBV + LPD作为TFH淋巴瘤潜在早期标志物的重要性，特别是在免疫衰老患者中，并提出了RS3PE作为vegf驱动疾病的副肿瘤前兆的可能性。多学科评估是必要的，以理清重叠的临床和病理结果。

{"title":"Complex interplay of Epstein-Barr virus-associated lymphoproliferative disorder, angioimmunoblastic T-cell lymphoma, and paraneoplastic syndromes: A case report","authors":"Jacob Fiedler , D.O. Caterina Aiello , Tabinda Jawaid , Carinne Anderson , Alla Rudinskaya , Vincent Rella , Jeffrey West , Gunjan Gupta , Paul Fiedler","doi":"10.1016/j.hpr.2025.300791","DOIUrl":"10.1016/j.hpr.2025.300791","url":null,"abstract":"<div><div>We report a diagnostically challenging case of a 66-year-old woman with EBV-positive polymorphic B-cell lymphoproliferative disorder (LPD), angioimmunoblastic T-cell lymphoma (AITL), and endometrial adenocarcinoma. Her initial presentation with RS3PE syndrome and a cutaneous eruption mimicking inflammatory breast carcinoma delayed recognition of underlying lymphoid malignancy. Skin biopsy revealed EBV + LPD, and months later she was diagnosed with AITL via lymph node biopsy. All three neoplasms have been linked to elevated vascular endothelial growth factor (VEGF), suggesting a shared pathogenic pathway. This case underscores the importance of considering EBV + LPD as a potential early marker of TFH lymphoma, especially in immunosenescent patients, and raises the possibility of RS3PE as a paraneoplastic harbinger of VEGF-driven disease. Multidisciplinary evaluation was essential to untangle the overlapping clinical and pathological findings.</div></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"41 ","pages":"Article 300791"},"PeriodicalIF":0.0,"publicationDate":"2025-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144913035","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

Hepatosplenic T-cell lymphoma, αβ type, presenting in an elderly patient status post indolent B-cell lymphoma treatment: report of a case and review of the literature 肝脾t细胞淋巴瘤，αβ型，在惰性b细胞淋巴瘤治疗后出现在老年患者状态：1例报告并文献复习

Human Pathology Reports

Pub Date : 2025-08-22 DOI: 10.1016/j.hpr.2025.300789

Rodolfo Garza-Morales , Isabela Wen-Chi Chang , Allison Rosenthal , Jiehao Zhou

Hepatosplenic T-cell lymphoma (HSTL) is a rare and aggressive mature T-cell lymphoma characterized by hepatosplenic involvement. It usually occurs de novo in adolescents and young adults (AYA) and has been most commonly reported in the setting of immunosuppression. Most cases present with proliferation of cytotoxic T-cells of TCRγδ type with a unique gene mutation profile. Due to rarity of this disease, there is no standard of care treatment, and outcomes are usually poor in the absence of stem cell transplant. In this case, we report an unusual presentation of HSTL of TCRαβ type in an elderly patient status post treatment of an indolent B-cell lymphoma.

肝脾t细胞淋巴瘤（HSTL）是一种罕见的侵袭性成熟t细胞淋巴瘤，其特征是肝脾受累。它通常发生在青少年和青壮年（AYA）中，并且在免疫抑制的情况下最常报道。大多数病例表现为具有独特基因突变谱的TCRγδ型细胞毒性t细胞增殖。由于这种疾病的罕见性，没有标准的护理治疗，在没有干细胞移植的情况下，结果通常很差。在本病例中，我们报告了一例老年患者在治疗惰性b细胞淋巴瘤后出现TCRαβ型HSTL的不寻常表现。

引用次数: 0

首页上一页

下一页尾页

类型

全部化学•材料生命科学医学物理工程技术环境•农林材料科学地球科学法学管理学化学环境科学与生态学计算机科学教育学经济学农林科学人文科学生物学数学物理与天体物理心理学综合性期刊其他工业工程理学历史学农学文学信息工程

数据库

全部 ACS Publications Elsevier ieeexplore Springer The Royal Society of Chemistry Wiley

期刊

Human Pathology Reports

全部 Acc. Chem. Res. ACS Applied Bio Materials ACS Appl. Electron. Mater. ACS Appl. Energy Mater. ACS Appl. Mater. Interfaces ACS Appl. Nano Mater. ACS Appl. Polym. Mater. ACS BIOMATER-SCI ENG ACS Catal. ACS Cent. Sci. ACS Chem. Biol. ACS Chemical Health & Safety ACS Chem. Neurosci. ACS Comb. Sci. ACS Earth Space Chem. ACS Energy Lett. ACS Infect. Dis. ACS Macro Lett. ACS Mater. Lett. ACS Med. Chem. Lett. ACS Nano ACS Omega ACS Photonics ACS Sens. ACS Sustainable Chem. Eng. ACS Synth. Biol. Anal. Chem. BIOCHEMISTRY-US Bioconjugate Chem. BIOMACROMOLECULES Chem. Res. Toxicol. Chem. Rev. Chem. Mater. CRYST GROWTH DES ENERG FUEL Environ. Sci. Technol. Environ. Sci. Technol. Lett. Eur. J. Inorg. Chem. IND ENG CHEM RES Inorg. Chem. J. Agric. Food. Chem. J. Chem. Eng. Data J. Chem. Educ. J. Chem. Inf. Model. J. Chem. Theory Comput. J. Med. Chem. J. Nat. Prod. J PROTEOME RES J. Am. Chem. Soc. LANGMUIR MACROMOLECULES Mol. Pharmaceutics Nano Lett. Org. Lett. ORG PROCESS RES DEV ORGANOMETALLICS J. Org. Chem. J. Phys. Chem. J. Phys. Chem. A J. Phys. Chem. B J. Phys. Chem. C J. Phys. Chem. Lett. Analyst Anal. Methods Biomater. Sci. Catal. Sci. Technol. Chem. Commun. Chem. Soc. Rev. CHEM EDUC RES PRACT CRYSTENGCOMM Dalton Trans. Energy Environ. Sci. ENVIRON SCI-NANO ENVIRON SCI-PROC IMP ENVIRON SCI-WAT RES Faraday Discuss. Food Funct. Green Chem. Inorg. Chem. Front. Integr. Biol. J. Anal. At. Spectrom. J. Mater. Chem. A J. Mater. Chem. B J. Mater. Chem. C Lab Chip Mater. Chem. Front. Mater. Horiz. MEDCHEMCOMM Metallomics Mol. Biosyst. Mol. Syst. Des. Eng. Nanoscale Nanoscale Horiz. Nat. Prod. Rep. New J. Chem. Org. Biomol. Chem. Org. Chem. Front. PHOTOCH PHOTOBIO SCI PCCP Polym. Chem.

﹀