Revista Espanola de Patologia最新文献_第9页

Intestinal infantile fibrosarcoma with translocation of NTRK. A case report and review of the literature NTRK易位的肠婴儿纤维肉瘤。病例报告及文献回顾

Revista Espanola de Patologia Pub Date : 2023-04-01 DOI: 10.1016/j.patol.2022.09.004

Paula Martín Soler, María Soledad Rodríguez Duque, Germán Moreno De Juan, Adriana Katherine Calapaqui Terán, Ana Rosa Tabardilla Calvo, María Luisa Cagigal Cobo

{"title":"Intestinal infantile fibrosarcoma with translocation of NTRK. A case report and review of the literature","authors":"Paula Martín Soler, María Soledad Rodríguez Duque, Germán Moreno De Juan, Adriana Katherine Calapaqui Terán, Ana Rosa Tabardilla Calvo, María Luisa Cagigal Cobo","doi":"10.1016/j.patol.2022.09.004","DOIUrl":"10.1016/j.patol.2022.09.004","url":null,"abstract":"<div><h3>Introduction</h3><p>Infantile fibrosarcoma is a rare non-rhabdomyosarcomatous soft tissue tumor (0.0005%) of which only 10% occur in the abdomen where they rarely affect the gastrointestinal tract. The median age at diagnosis is 3 months although 40% of them are present at birth.</p></div><div><h3>Material and methods</h3><p>When infantile fibrosarcoma is diagnosed in our center, a clinical–pathological description is made together with a bibliographic review.</p></div><div><h3>Results</h3><p>We present the case of a 6-day-old girl who presented with irritability and rejection of food. She was diagnosed with acute abdomen due to perforation and underwent surgery where a mass on the ascending colon was removed. Histopathology revealed a proliferation of spindle cells consisting of intertwined fascicles, infiltrating the adjacent tissues. Nuclear pleomorphism, few mitoses, foci of necrosis and hemorrhage are seen. Immunohistochemistry showed positivity for Pan-TRK and the NGS panel (Archer DX) demonstrated the TPR::NTRK1 fusion.</p><p>No case with these characteristics, location or TPR::NTRK1 fusion were found in the literature.</p></div><div><h3>Conclusions</h3><p>Infantile fibrosarcoma is a very infrequent tumor which is exceptionally rare in the intestine. It is important to look for the characteristic genetic rearrangement of these tumors both to confirm the diagnosis and differentiate them from other pediatric spindle cell tumors and determine the correct targeted treatment. Selective TRK inhibitors have shown a 75% response rate in children and adults with tumors that exhibit TRK fusion. It was possible to find fusions with the <em>Archer DX</em> panel that the <em>Oncomine panel</em> did not detect.</p></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9333869","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

Pancreatic intraductal papillary mucinous neoplasm with sarcomatous transformation. A case report 胰腺导管内乳头状粘液瘤伴肉瘤转化。病例报告

Revista Espanola de Patologia Pub Date : 2023-04-01 DOI: 10.1016/j.patol.2021.05.004

Álvaro López-Janeiro , Ana Margarita Rodriguez , Marta Mendiola , Rula Nasimi Sabbagh , Jaime Feliu , Arantxa Villadóniga , Maria del Carmen Mendez

引用次数: 0

La Patología ante un gran desafío: el impacto de las nuevas clasificaciones de las neoplasias 病理学面临巨大挑战：肿瘤新分类的影响

Revista Espanola de Patologia Pub Date : 2023-04-01 DOI: 10.1016/j.patol.2023.03.001

Miguel A. Idoate Gastearena

引用次数: 0

Tumor de células gigantes óseo en arco costal, tratado con denosumab. Reporte de un caso 肋弓骨巨细胞瘤，用Denosumab治疗。病例报告

Revista Espanola de Patologia Pub Date : 2023-04-01 DOI: 10.1016/j.patol.2021.04.002

Paula Serret Miralles, Ruth Orellana Fernández, Tamara Parra Parente, Rosa Belén García-Chamón Brígido, Rubén Carrera Salas

引用次数: 0

Pediatric patients with lysosomal acid lipase deficiency 溶酶体酸性脂肪酶缺乏症患儿

Revista Espanola de Patologia Pub Date : 2023-04-01 DOI: 10.1016/j.patol.2021.03.005

David A. Suarez-Zamora , Maria M. Rojas-Rojas , Felipe Ordoñez-Guerrero , Jacqueline Mugnier-Quijano , Rocio Lopez-Panqueva

{"title":"Pediatric patients with lysosomal acid lipase deficiency","authors":"David A. Suarez-Zamora , Maria M. Rojas-Rojas , Felipe Ordoñez-Guerrero , Jacqueline Mugnier-Quijano , Rocio Lopez-Panqueva","doi":"10.1016/j.patol.2021.03.005","DOIUrl":"10.1016/j.patol.2021.03.005","url":null,"abstract":"<div><p><span>Lysosomal acid lipase (LAL) deficiency is a rare, autosomal recessive disease caused by mutations in the LIPA gene, which produces cholesteryl ester and triglyceride accumulation predominantly in hepatocytes, adrenal glands, and gastrointestinal tract. We describe two new cases occurring in siblings, aged 5 and 7 years, who presented with hepatomegaly, dyslipidemia, and abnormal liver function. Percutaneous liver biopsy revealed portal inflammation, hypertrophic Kupffer cells with a foamy appearance and microvesicular steatosis with fibrosis. Immunostaining for lysosomal markers, cathepsin D and LAMP1 reflected the lysosomal nature of the lipid vacuoles. After enzymatic confirmation, enzyme replacement therapy was initiated for both siblings. Follow-up transaminase levels and lipid profiles showed a notable decrease in AST and ALT and a slight increase in </span>HDL<span> cholesterol. It is crucial to increase awareness of this rare condition among clinicians and pathologists. The expression of lysosomal markers around the lipid vacuoles might help diagnose LAL deficiency in pediatric patients.</span></p></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9333865","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

Villitis crónica granulomatosa asociada a citomegalovirus. Un hallazgo inusual que induce a confusión. A propósito de un caso 与巨细胞病毒相关的慢性肉芽肿性绒毛膜炎。引起混乱的不寻常发现。关于一个案件

Revista Espanola de Patologia Pub Date : 2023-04-01 DOI: 10.1016/j.patol.2021.10.001

Marta Segado Martínez, María Isabel Oviedo Ramírez

引用次数: 0

Mesotelioma papilar bien diferenciado: descripción de tres casos y revisión bibliográfica 分化良好的乳头状间皮瘤3例报告并文献复习

Revista Espanola de Patologia Pub Date : 2023-01-01 DOI: 10.1016/j.patol.2021.05.002

Belén Tristán Martín , Grevelyn Sosa Rotundo , Laura López Brasal , Isabel Alemany Benítez

引用次数: 0

Futuro y presente de la anatomía patológica: desafíos y oportunidades 病理解剖学的未来和现在：挑战和机遇

Revista Espanola de Patologia Pub Date : 2023-01-01 DOI: 10.1016/j.patol.2022.12.001

Manuel Rodríguez-Justo

引用次数: 0

Expert consensus of the Spanish Society of Pathology and the Spanish Society of Medical Oncology on the determination of biomarkers in pancreatic and biliary tract cancer 西班牙病理学会和西班牙肿瘤医学学会关于胰腺癌和胆道癌生物标志物测定的专家共识

Revista Espanola de Patologia Pub Date : 2023-01-01 DOI: 10.1016/j.patol.2022.06.004

Ruth Vera , Carolina Ibarrola-de Andrés , Jorge Adeva , Judith Pérez-Rojas , Pilar García-Alfonso , Yolanda Rodríguez-Gil , Teresa Macarulla , Teresa Serrano-Piñol , Rebeca Mondéjar , Beatriz Madrigal-Rubiales

{"title":"Expert consensus of the Spanish Society of Pathology and the Spanish Society of Medical Oncology on the determination of biomarkers in pancreatic and biliary tract cancer","authors":"Ruth Vera , Carolina Ibarrola-de Andrés , Jorge Adeva , Judith Pérez-Rojas , Pilar García-Alfonso , Yolanda Rodríguez-Gil , Teresa Macarulla , Teresa Serrano-Piñol , Rebeca Mondéjar , Beatriz Madrigal-Rubiales","doi":"10.1016/j.patol.2022.06.004","DOIUrl":"10.1016/j.patol.2022.06.004","url":null,"abstract":"<div><p>Pancreatic cancer and biliary tract cancer have a poor prognosis. In recent years, the development of new diagnostic techniques has enabled the identification of the main genetic alterations involved in the development of these tumours. Multiple studies have assessed the ability to predict response to treatment of certain biomarkers, such as <em>BRCA</em> in pancreatic cancer, <span><em>IDH1</em></span> or <span><em>FGFR2</em></span> in biliary tract cancer and microsatellite instability or <span><em>NTRK</em></span> fusions in an agnostic tumour fashion.</p><p>In this consensus, a group of experts selected by the Spanish Society of Medical Oncology (SEOM) and the Spanish Society of Pathology (SEAP) reviewed the role played by these mutations in the process of carcinogenesis and their clinical implications. Based on their results, a series of recommendations are made to optimize the determination of these biomarkers and thus help standardize the diagnosis and treatment of these tumours.</p></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10687636","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

PD-L1 immunoexpression and molecular characterization of histological subtypes in urothelial carcinoma 尿路上皮癌组织亚型PD-L1的免疫表达和分子特征

Revista Espanola de Patologia Pub Date : 2023-01-01 DOI: 10.1016/j.patol.2022.09.002

Maria Teresa Dawid de Vera , Juan Daniel Prieto Cuadra , Martina Álvarez Pérez , Alicia Garrido-Aranda , Emilio Alba Conejo , Isabel Hierro Martín

{"title":"PD-L1 immunoexpression and molecular characterization of histological subtypes in urothelial carcinoma","authors":"Maria Teresa Dawid de Vera , Juan Daniel Prieto Cuadra , Martina Álvarez Pérez , Alicia Garrido-Aranda , Emilio Alba Conejo , Isabel Hierro Martín","doi":"10.1016/j.patol.2022.09.002","DOIUrl":"10.1016/j.patol.2022.09.002","url":null,"abstract":"<div><h3>Introduction</h3><p><span>Urothelial carcinoma (UC) has histological subtypes whose phenotype reflects their molecular diversity, behavior and response to conventional therapy. Immune checkpoint inhibitors (ICIs) have improved the management of UC by evaluation of PD-L1. In the case of PD-L1 22C3, the initiation of ICI is considered from a combined positive score (CPS) greater than 10. However, UC subtypes with absent PD-L1 22C3 expression in cases with CPS</span>      <!-->10 cases that include histological subtypes of UC with divergent expression for PD-L1 as they may not respond to treatment with ICI. We recommend examining the proportion and PD-L1 status of each subtype, especially if it has aggressive behavior.</p></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10687637","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: 1