Human Pathology: Case Reports最新文献

Recurrent fibrin associated diffuse large B-cell lymphoma: A case report 复发性纤维蛋白相关性弥漫性大B细胞淋巴瘤1例报告

Human Pathology: Case Reports Pub Date : 2021-09-01 DOI: 10.1016/j.ehpc.2021.200538

Mohebnasab Maedeh , Tria Francisco , Kim Sunny , Okada Craig , Davis Jessica , Fan Guang

{"title":"Recurrent fibrin associated diffuse large B-cell lymphoma: A case report","authors":"Mohebnasab Maedeh , Tria Francisco , Kim Sunny , Okada Craig , Davis Jessica , Fan Guang","doi":"10.1016/j.ehpc.2021.200538","DOIUrl":"10.1016/j.ehpc.2021.200538","url":null,"abstract":"<div><p>Fibrin- associated diffuse large B cell lymphoma (FA-DLBCL) is a rare entity, often incidental finding, categorized under “diffuse large B cell lymphoma associated with chronic inflammation (DLBCL-CI)“ in 2017 World Health Organization (WHO) classification of tumors of hematopoietic and lymphoid tissues. Here we report a 48-year-old male with FA-DLBCL who experienced recurrence within one year from initial presentation. The patient had a history of an abdominal aortic aneurism and underwent an endovascular aneurysm repair (EVAR) in 2013. Later in 2019, he was found by CT aortogram to have endoleak of the aneurysm repair. He underwent an open abdominal aortic aneurysm repair with explant of the endovascular stent. The explanted graft was sent to pathology and was found on gross examination to have ample adherent tissue. On microscopic examination this tissue was composed of abundant fibrinous material with several foci of large pleomorphic lymphocytes with enlarged round to polyhedral nuclei, prominent nucleoli, open chromatin, and scanty cytoplasm. Necrosis was also seen in a largest focus of tumor infiltrate. By immunohistochemistry, the atypical, large lymphocytes expressed CD20 and MUM-1; and positive for EBV, by Epstein-Barr virus (EBV) in situ hybridization (EBER-ISH). Together, the diagnosis for FA-DLBCL was made. Further work up by PET scan showed no active disease. The patient re-presented 10 months later with right lower extremity ischemia due to the vascular graft thrombosis. The thrombectomy specimen showed identical findings of his initial FA- DLBCL. Here we discuss the clinicopathologic findings of this entity and the importance of clinical follow up.</p></div>","PeriodicalId":38075,"journal":{"name":"Human Pathology: Case Reports","volume":"25 ","pages":"Article 200538"},"PeriodicalIF":0.0,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ehpc.2021.200538","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49386077","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 3

Ischemic stroke related to systemic sarcoidosis: Report of complete autopsy examination 与系统性结节病相关的缺血性中风：完整尸检报告

Human Pathology: Case Reports Pub Date : 2021-09-01 DOI: 10.1016/j.ehpc.2021.200543

Wei Wang , Rongying Li , Xavier Rivera Rivera , Noah Reilly , Meenakshi Bhattacharjee , Bihong Zhao MD, PhD

{"title":"Ischemic stroke related to systemic sarcoidosis: Report of complete autopsy examination","authors":"Wei Wang , Rongying Li , Xavier Rivera Rivera , Noah Reilly , Meenakshi Bhattacharjee , Bihong Zhao MD, PhD","doi":"10.1016/j.ehpc.2021.200543","DOIUrl":"10.1016/j.ehpc.2021.200543","url":null,"abstract":"<div><p>Sarcoidosis is a systemic idiopathic granulomatous disease that most commonly presents with lungs and hilar lymph node involvement. Clinical manifestation with acute ischemic stroke, with central neurological and cardiac involvement is extremely rare. Herein we report the case of a 60-year-old African American woman with history of chronic heart failure and pacemaker implantation, who presented with acute ischemic stroke, and died within 34 h of hospitalization. On autopsy, well-formed non-caseating granulomas were present in the myocardium, adventitia of the left main coronary artery, all lobes of bilateral lungs, pleura, liver, and spleen. The brain also showed granulomas, with predominantly leptomeningeal and focal parenchymal involvement of the central basal brain tissue (hypothalamic region), but without vascular wall involvement. Granulomas were also present within the thyroid as well as an incidental finding of a Hürthle-cell adenoma (HCA). We believe that left internal carotid artery and left middle cerebral artery obstruction, possibly thromoboembolic from the heart, was the cause of acute regional brain ischemia. This rare case illustrates the importance of the autopsy in the diagnosis of unexpected medical conditions; and also that sarcoidosis may play an etiologic role in acute ischemic stroke.</p></div>","PeriodicalId":38075,"journal":{"name":"Human Pathology: Case Reports","volume":"25 ","pages":"Article 200543"},"PeriodicalIF":0.0,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ehpc.2021.200543","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49496010","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Intravascular large B-cell lymphoma involving pleural solitary fibrous tumor: A case report and literature review 血管内大b细胞淋巴瘤伴胸膜孤立性纤维瘤1例并文献复习

Human Pathology: Case Reports Pub Date : 2021-09-01 DOI: 10.1016/j.ehpc.2021.200530

Amintas Samuel , Laurent Elodie , Gros Audrey , Sesboue Come , Merlio Jean-Philippe , Parrens Marie

{"title":"Intravascular large B-cell lymphoma involving pleural solitary fibrous tumor: A case report and literature review","authors":"Amintas Samuel , Laurent Elodie , Gros Audrey , Sesboue Come , Merlio Jean-Philippe , Parrens Marie","doi":"10.1016/j.ehpc.2021.200530","DOIUrl":"10.1016/j.ehpc.2021.200530","url":null,"abstract":"<div><p>Intravascular large B-cell lymphoma (IVLBCL) is a very rare type of extranodal large B-cell lymphoma that selectively grows within vessels and can spread to any organs or tissues. A very few cases of synchronicity with malignant tumor have yet been described. We report a rare case of IVLBCL accompanying a pleural malignant solitary fibrous tumor (MSFT). A 76-year-old man presented with a chronic dry cough, fever, minor general state deterioration and pancytopenia. Imaging revealed a large pleural mass. Histologically, the mass consisted of a MSFT. However, CD20<sup>+</sup> malignant round cells were scattered within lumina of intratumoral blood vessels, evidencing a synchronous IVLBCL occurrence. Molecular analysis of the lymphoid clone identified <em>MYD88</em> and <em>CD79B</em> gene mutations. After pleural mass excision, global health’s patient improved with cytopenia correction. However, a general state deterioration appeared 4 months after surgery, associated with a large retroperitoneal mass presenting the same pathological and molecular patterns identical to the initial IVLBCL clone.</p></div>","PeriodicalId":38075,"journal":{"name":"Human Pathology: Case Reports","volume":"25 ","pages":"Article 200530"},"PeriodicalIF":0.0,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ehpc.2021.200530","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46232417","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Primary large cell neuroendocrine carcinoma of the distal ureter: A rare entity 输尿管远端原发性大细胞神经内分泌癌：一种罕见的实体瘤

Human Pathology: Case Reports Pub Date : 2021-09-01 DOI: 10.1016/j.ehpc.2021.200545

Harpreet Kaur Rai , George Goucher , Jehonathan H. Pinthus , Phillip Williams

引用次数: 0

Tissue-specific telomere shortening and degenerative changes in a patient with TINF2 mutation and dyskeratosis congenita TINF2突变和先天性角化不良患者的组织特异性端粒缩短和退行性改变

Human Pathology: Case Reports Pub Date : 2021-09-01 DOI: 10.1016/j.ehpc.2021.200517

Caitlin M. Roake , Marisa Juntilla , Rajni Agarwal-Hashmi , Steven Artandi , Christin S. Kuo

{"title":"Tissue-specific telomere shortening and degenerative changes in a patient with TINF2 mutation and dyskeratosis congenita","authors":"Caitlin M. Roake , Marisa Juntilla , Rajni Agarwal-Hashmi , Steven Artandi , Christin S. Kuo","doi":"10.1016/j.ehpc.2021.200517","DOIUrl":"10.1016/j.ehpc.2021.200517","url":null,"abstract":"<div><p>Dyskeratosis congenita is a disease of impaired tissue maintenance downstream of telomere dysfunction. Characteristically, patients present with the clinical triad of nail dystrophy, oral leukoplakia, and skin pigmentation defects, but the disease involves degenerative changes in multiple organs. Mutations in telomere-binding proteins such as TINF2 (TRF1-interacting nuclear factor 2) or in telomerase, the enzyme that counteracts age related telomere shortening, are causative in dyskeratosis congenita. We present a patient who presented with severe hypoxemia at age 13. The patient had a history of myelodysplastic syndrome treated with bone marrow transplant at the age of 5. At age 18 she was hospitalized for an acute pneumonia progressing to respiratory failure, developed renal failure and ultimately, she and her family opted to withdraw support as she was not a candidate for a lung transplant. Sequencing of the patient’s TINF2 locus revealed a heterozygous mutation (c.844C > T, Arg282Cys) which has previously been reported in a subset of dyskeratosis congenita patients. Tissue sections from multiple organs showed degenerative changes including disorganized bone remodeling, diffuse alveolar damage and small vessel proliferation in the lung, and hyperkeratosis with hyperpigmentation of the skin. Autopsy samples revealed a bimodal distribution of telomere length, with telomeres from donor hematopoietic tissues being an age-appropriate length and those from patient tissues showing pathogenic shortening, with the shortest telomeres in lung, liver, and kidney. We report for the first time a survey of degenerative changes and telomere lengths in multiple organs in a patient with dyskeratosis congenita.</p></div>","PeriodicalId":38075,"journal":{"name":"Human Pathology: Case Reports","volume":"25 ","pages":"Article 200517"},"PeriodicalIF":0.0,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ehpc.2021.200517","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9632901","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Case report: Novel PIK3CA and AXIN1 mutations in acinar cell carcinoma of the stomach arising from pancreatic heterotopia 病例报告:胰腺异位引起的胃腺泡细胞癌中出现新的PIK3CA和AXIN1突变

Human Pathology: Case Reports Pub Date : 2021-09-01 DOI: 10.1016/j.ehpc.2021.200529

Brian T Brinkerhoff , Mandy VanSandt , Skye C Mayo , Carol Beadling , Christopher L Corless

引用次数: 0

Perianal alveolar rhabdomyosarcoma with pulmonary lymphangitic sarcomatosis: Report of an autopsy case 肛门周围肺泡横纹肌肉瘤伴肺淋巴管肉瘤1例尸检报告

Human Pathology: Case Reports Pub Date : 2021-09-01 DOI: 10.1016/j.ehpc.2021.200544

Koichi Matsumoto , Ryou Ishikawa , Noriko Fuke , Takayuki Yokota , Takayuki Wakabayashi , Yoichi Chiba , Machi Kawauchi , Hitoshi Okada , Takako Yoshioka , Masaki Ueno

{"title":"Perianal alveolar rhabdomyosarcoma with pulmonary lymphangitic sarcomatosis: Report of an autopsy case","authors":"Koichi Matsumoto , Ryou Ishikawa , Noriko Fuke , Takayuki Yokota , Takayuki Wakabayashi , Yoichi Chiba , Machi Kawauchi , Hitoshi Okada , Takako Yoshioka , Masaki Ueno","doi":"10.1016/j.ehpc.2021.200544","DOIUrl":"10.1016/j.ehpc.2021.200544","url":null,"abstract":"<div><h3>Background</h3><p>Childhood rhabdomyosarcoma (RMS) of perineal or perianal origin (PRMS) is rare, accounting for only 2% of all RMSs. PRMS has been reported to show different characteristics depending on the patient’s age, and patients aged 10 years or older have a poor prognosis. Disseminated intravascular coagulation (DIC) is considered to be an uncommon complication of RMS. However, it could occur occasionally in patients with widespread RMS with bone marrow infiltration. Pulmonary lymphangitic sarcomatosis (PLS) has been reported to be rare, and to our knowledge, only 18 cases (including 4 patients with RMS) have been reported to date.</p></div><div><h3>Case report</h3><p>A 15-year-old female patient with suspected RMS was admitted to our hospital. The patient was diagnosed with PRMS following radiological evaluations and effusion cytology, and chemotherapy was initiated on the 6th day of admission. During the course, the patient suffered from severe dyspnea and DIC. Despite treatment, the bleeding tendency did not improve, and hepatic and renal failure progressed. The patient died of progressive respiratory failure on the 13th day of admission. An autopsy, performed 2 h after death, revealed a perianal tumor with pseudoalveolar growth pattern. In the lungs, a relatively large number of small metastatic foci, presumed to be lymphatic spread, were identified. It was diagnosed as PLS due to alveolar RMS.</p></div><div><h3>Conclusion</h3><p>Although PLS is reported to be an unexpected form of metastasis, it might cause severe dyspnea in patients with RMS, as 4 of 18 reported cases of PLS are associated with RMS.</p></div>","PeriodicalId":38075,"journal":{"name":"Human Pathology: Case Reports","volume":"25 ","pages":"Article 200544"},"PeriodicalIF":0.0,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ehpc.2021.200544","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44358519","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A rare case of malignant peritoneal mesothelioma with EWSR-ATF1 fusion transcription and unusual immunophenotype 一例罕见的恶性腹膜间皮瘤EWSR-ATF1融合转录和异常免疫表型

Human Pathology: Case Reports Pub Date : 2021-09-01 DOI: 10.1016/j.ehpc.2021.200542

Olawunmi Ajelero, Paul J. Zhang, Robin Collingwood, Danielle Fortuna

{"title":"A rare case of malignant peritoneal mesothelioma with EWSR-ATF1 fusion transcription and unusual immunophenotype","authors":"Olawunmi Ajelero, Paul J. Zhang, Robin Collingwood, Danielle Fortuna","doi":"10.1016/j.ehpc.2021.200542","DOIUrl":"10.1016/j.ehpc.2021.200542","url":null,"abstract":"<div><p>Malignant peritoneal mesothelioma (MPM) is a rare, aggressive, and fatal neoplasm of the abdominal mesothelium with a very abysmal survival if left untreated. MPM with <em>EWSR1-ATF1</em> fusion is an uncommon entity recently recognized by molecular studies. We report the first case of MPM with <em>EWSR1-ATF1</em> fusion and aberrant CK20 expression. The patient was a 38-year-old man who presented to our institution with three months history of abdominal pain and distention, a significant weight loss (>30 lb), and failure to thrive. He was working in a construction company with 20 year-history of questionable asbestos exposure. Imaging studies demonstrated radiographic patterns suggestive of extensive peritoneal carcinomatosis. However, serum tumor markers were within the normal limit (CA 19–9, CEA, AFP, and βHCG). Subsequently, he underwent a biopsy of the peritoneal nodules. Biopsy showed a proliferation of epithelioid/round cells with ample cytoplasm and occasional vacuoles, displaying papillary architecture. Immunohistochemistry showed tumor cells were strongly and diffusely positive for WT1, AE1/3, CK7, CK20, desmin, and CD99, focally positive for calretinin, D2-40, and CK5/6, while negative for BerEp4, MOC-31, trypsin, TTF-1, P40, GATA3, CDX2, and PAX8. P16 and BAP1 were retained. Fluorescence in situ hybridization studies showed <em>EWSR1</em> rearrangement, and the NGS fusion panel revealed <em>EWSR1-ATF1</em> fusion. A diagnosis of MPM with <em>EWSR1-ATF1</em> fusion was rendered. Unfortunately, the patient passed away within a month of diagnosis. Pathologists should be aware of this entity, especially when faced with tumors displaying mesothelioma morphology but showing atypical immunoprofile (co-expression of mesothelial markers with strong CK20).</p></div>","PeriodicalId":38075,"journal":{"name":"Human Pathology: Case Reports","volume":"25 ","pages":"Article 200542"},"PeriodicalIF":0.0,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ehpc.2021.200542","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44773307","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

Sarcina organism of the stomach: Report of a case 胃肌瘤生物:1例报告

Human Pathology: Case Reports Pub Date : 2021-09-01 DOI: 10.1016/j.ehpc.2021.200541

Andre Ene, Morgan H. McCoy, Shadi Qasem

引用次数: 1

An unusual case of renal Ewing sarcoma: A case report and review of literature 罕见肾尤因肉瘤1例报告及文献复习

Human Pathology: Case Reports Pub Date : 2021-09-01 DOI: 10.1016/j.ehpc.2021.200537

Ruhani Sardana , Anil V. Parwani , Ahmad Shabsigh , Jesse Sheldon

引用次数: 0