Human Pathology: Case Reports最新文献_第4页

EBV-associated high-grade transformation of mantle cell lymphoma: A case report ebv相关的套细胞淋巴瘤高级别转化1例

Human Pathology: Case Reports Pub Date : 2021-06-01 DOI: 10.1016/j.ehpc.2021.200510

Nana Matsumoto, Zenggang Pan

引用次数: 1

A case of trichoblastic carcinosarcoma with review of literature 毛细胞癌肉瘤1例并文献复习

Human Pathology: Case Reports Pub Date : 2021-06-01 DOI: 10.1016/j.ehpc.2021.200484

Indu M. Nair , Deepa Gharpuray-Pandit , Claribel Cardozo

引用次数: 2

A unique case of mesonephric adenocarcinoma of urinary bladder 一例独特的膀胱中肾腺癌

Human Pathology: Case Reports Pub Date : 2021-06-01 DOI: 10.1016/j.ehpc.2021.200519

Aswathy Miriam Cheriyan , Shweta Patel , Thomas Krivak , Jay Lutins , Zachary Horne , Sharon Liang

引用次数: 1

Osteosarcoma with Telangiectatic Features Metastatic to the Small Bowel 具有毛细血管扩张特征的骨肉瘤转移到小肠

Human Pathology: Case Reports Pub Date : 2021-06-01 DOI: 10.1016/j.ehpc.2021.200499

Geoffrey G. Herndon , Chirag R. Patel , Bart Rose , Shi Wei , Gene P. Siegal , Sameer Al Diffalha

引用次数: 0

A case of retroperitoneal lymphangioma in an adult 成人腹膜后淋巴管瘤1例

Human Pathology: Case Reports Pub Date : 2021-06-01 DOI: 10.1016/j.ehpc.2021.200511

Cong Thao Trinh , Nhu Tung Tran , Bich Thuy Thi Vo , Hoang Anh Thi Van , Van Trung Hoang , Minh Duc Nguyen

引用次数: 2

Pierre Robin sequence with a novel mutation in SOX9 gene: Case study SOX9基因突变的Pierre Robin序列:个案研究

Human Pathology: Case Reports Pub Date : 2021-06-01 DOI: 10.1016/j.ehpc.2021.200523

Mohd Murtaza , Md Niamat Ali , Mahrukh Hameed Zargar

{"title":"Pierre Robin sequence with a novel mutation in SOX9 gene: Case study","authors":"Mohd Murtaza , Md Niamat Ali , Mahrukh Hameed Zargar","doi":"10.1016/j.ehpc.2021.200523","DOIUrl":"10.1016/j.ehpc.2021.200523","url":null,"abstract":"<div><h3>Background</h3><p>Pierre Robin Syndrome (PRS) is a rare congenital anomaly characterized by micrognathia, glossoptosis, and cleft palate. The PRS has been found to be associated with the cleft palate with the incidence of 1/8500 to 1/14000 births.</p></div><div><h3>Case characteristic</h3><p>We reported a case of a four-day-old male neonate without any familial history of congenital anomalies. The proband was having a symptom of micrognathia and glossoptosis with a concern of feeding and respiration.</p></div><div><h3>Outcomes</h3><p>Molecular analysis was performed by extraction of the DNA followed by the polymerase chain reactions and sequencing of the SOX9 gene. During the analysis of the sequence, c.448C > A mutation was found in exon 1 of the SOX9 gene. The parents were found to be heterozygous, while the proband was found to be homozygous. This mutation (c.448C > A) in exon 1 of the SOX9 gene leads to a change in triplet codon from CCG to ACG at position 150 (p. Pro150Thr).</p></div><div><h3>Conclusion</h3><p>The results of this study showed a positive association, suggesting that the gene SOX9 has a role to play. Although the genetic etiology of PRS is not clearly understood. The SOX9 gene codes for the SOX9 protein that controls the proper development of the facial structure. Thus, we hypothesized that PRS in this proband was caused by the haploinsufficiency of the SOX9 gene.</p></div>","PeriodicalId":38075,"journal":{"name":"Human Pathology: Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ehpc.2021.200523","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42499474","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

Extranodal Rosai-Dorfman disease involving soft tissue associated with increased IgG4 plasma cells 结外Rosai-Dorfman病涉及与IgG4浆细胞增加相关的软组织

Human Pathology: Case Reports Pub Date : 2021-06-01 DOI: 10.1016/j.ehpc.2021.200488

Karen D. Thomas , Peggy Delahoussaye , Mary R. Schwartz , Alberto G. Ayala , Jae Y. Ro

{"title":"Extranodal Rosai-Dorfman disease involving soft tissue associated with increased IgG4 plasma cells","authors":"Karen D. Thomas , Peggy Delahoussaye , Mary R. Schwartz , Alberto G. Ayala , Jae Y. Ro","doi":"10.1016/j.ehpc.2021.200488","DOIUrl":"10.1016/j.ehpc.2021.200488","url":null,"abstract":"<div><h3>Background</h3><p>Rosai-Dorfman disease (RDD) is a rare entity characterized by lymphadenopathy with dilated lymph node sinuses containing lymphocytes, plasma cells, and histiocytes exhibiting emperipolesis. IgG4-related disease (IgG4-RD) is relatively more common and is characterized by mass-forming lesions with dense lymphoplasmacytic infiltration, numerous IgG4 positive cells, fibrosis which is at least focally storiform, and obliterative phlebitis. Concomitant RDD and IgG4-RD is rare, and the significance of this association remains unclear.</p></div><div><h3>Case presentation</h3><p>A 64-year-old female presented with the gradual onset of a painful right gluteal mass. The mass was clinically suspected to represent an infected sebaceous cyst and was surgically resected. Histological examination revealed a mixed inflammatory reaction in adipose tissue. There were areas of histiocytic proliferation with phagocytosis of inflammatory cells (emperipolesis), predominantly lymphocytes and plasma cells. There was also prominent storiform sclerosis with dense collections of plasma cells. No obliterative thrombophlebitis was seen. Immunohistochemical staining highlighted S100-positive cells with emperipolesis, greater than 50 IgG4 positive cells per high power field, and an IgG4/IgG ratio of greater than 40%. The histologic and immunohistochemical findings were those of RDD with concomitant IgG4-RD.</p></div><div><h3>Conclusions</h3><p>There is limited literature on RDD with increased IgG4-positive plasma cells; and the exact relationship and clinical significance of this finding remains undetermined. We present here a case with combined RDD and IgG4-RD and review the relevant literature.</p></div>","PeriodicalId":38075,"journal":{"name":"Human Pathology: Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ehpc.2021.200488","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45538750","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

Hepatocellular carcinoma arising within a β-catenin mutated inflammatory hepatic adenoma 由β-连环蛋白突变的炎性肝腺瘤引起的肝细胞癌

Human Pathology: Case Reports Pub Date : 2021-06-01 DOI: 10.1016/j.ehpc.2021.200501

Christopher M. Chandler , Kevin P. Labadie , James O. Park , Camtu D. Truong

引用次数: 0

Biphenotypic sinonasal sarcoma: Report of 3 cases with a review of literature 双表型鼻窦肉瘤3例报告并文献复习

Human Pathology: Case Reports Pub Date : 2021-06-01 DOI: 10.1016/j.ehpc.2021.200491

Shenon Sethi , Brittany Cody , Nada A. Farhat , Mark D. Pool , Nora Katabi

引用次数: 5

Case of thyroid transcription factor-1-positive neuroendocrine carcinoma of the sphenoid sinus with bone metastases 蝶窦甲状腺转录因子-1阳性神经内分泌癌伴骨转移1例

Human Pathology: Case Reports Pub Date : 2021-06-01 DOI: 10.1016/j.ehpc.2021.200492

Kohei Inomata , Hidenori Yokoi , Masachika Fujiwara , Yasuaki Kimura , Yuma Matsumoto , Shoji Naito , Arisa Ohara , Naohiro Okano , Hiroshi Kamma , Koichiro Saito

{"title":"Case of thyroid transcription factor-1-positive neuroendocrine carcinoma of the sphenoid sinus with bone metastases","authors":"Kohei Inomata , Hidenori Yokoi , Masachika Fujiwara , Yasuaki Kimura , Yuma Matsumoto , Shoji Naito , Arisa Ohara , Naohiro Okano , Hiroshi Kamma , Koichiro Saito","doi":"10.1016/j.ehpc.2021.200492","DOIUrl":"10.1016/j.ehpc.2021.200492","url":null,"abstract":"<div><p>Malignant tumors in the sinonasal region are rare and account for only 0.2–0.8% of all cancers and 1–3% of all head and neck carcinomas. Among the confirmed cases, the involvement of the sphenoid sinus is even rarer, accounting for only 2–3% of paranasal sinus tumors (Osguthorpe et al., 1994; Esposito et al., 2006; DeMonte et al., 2000).</p><p>Neuroendocrine carcinoma of the sphenoid sinus as a primary lesion is very rare; due to its rarity, no standard treatment has been established. Staining for thyroid transcription factor-1 (TTF-1) has been shown to be useful in the definite diagnosis of primary lung tumors. However, cases of TTF-1-positive small-cell neuroendocrine carcinomas that did not originate in the lung have been reported in the literature. Herein, we report the case of a patient with TTF-1-positive small-cell neuroendocrine carcinoma of the sphenoid sinus as the primary lesion and multiple bone metastases; to the best of our knowledge, this is the first report of such a case. A 52-year-old woman presented with complains of numbness and pain that extended from the left cheek to the lower lip and continued for 2 months. Head magnetic resonance imaging showed a neoplastic lesion in the left sphenoid sinus. We performed a transnasal endoscopic tumor biopsy; based on the results of pathological and immunohistochemical examination, a diagnosis of TTF-1-positive neuroendocrine carcinoma of the left sphenoid sinus with multiple bone metastases was made. Despite treatment with Cyberknife therapy and chemotherapy, the patient died approximately 12 months after treatment initiation. The findings of this case may help elucidate the significance of TTF-1-positive cells in small-cell neuroendocrine carcinomas.</p></div>","PeriodicalId":38075,"journal":{"name":"Human Pathology: Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ehpc.2021.200492","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45021657","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