Guillermo García-Porrero, José Joaquín Paricio Martínez, Laura Álvarez Gigli, Marta Abengózar Muela
{"title":"Osteoclast-rich undifferentiated carcinoma of the bladder and the diagnostic usefulness of immunohistochemistry. A case report","authors":"Guillermo García-Porrero, José Joaquín Paricio Martínez, Laura Álvarez Gigli, Marta Abengózar Muela","doi":"10.1016/j.patol.2022.01.002","DOIUrl":"10.1016/j.patol.2022.01.002","url":null,"abstract":"<div><p>Osteoclast-rich undifferentiated carcinoma (ORUC) of the urinary tract is a rare variant of urothelial carcinoma, first described in 1985 by Kitazawa et al. It has a worse prognosis compared to other histological variants of invasive urothelial carcinoma and its diagnosis may prove challenging due to the variability in its immunohistochemical profile. We present a case of ORUC in which GATA3 immunostaining was a useful diagnostic tool.</p></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"56 2","pages":"Pages 132-135"},"PeriodicalIF":0.0,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9339127","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}
Khaled Abdelwahab , Ahmed Abdallah , Islam H. Metwally , Shadi Awny , Omar Hamdy , Khadiga M. Ali , Mohammad Zuhdy
{"title":"Effect of non-invasive follicular thyroid neoplasm with papillary-like features (NIFTP) terminology on surgical management concepts","authors":"Khaled Abdelwahab , Ahmed Abdallah , Islam H. Metwally , Shadi Awny , Omar Hamdy , Khadiga M. Ali , Mohammad Zuhdy","doi":"10.1016/j.patol.2022.11.001","DOIUrl":"10.1016/j.patol.2022.11.001","url":null,"abstract":"<div><h3>Background</h3><p>Despite the strict diagnostic criteria recently proposed for non-invasive follicular thyroid neoplasm with papillary-like features (NIFTP), its incidence is still unknown. Employing a retrospective analysis of the follicular variant of papillary thyroid carcinoma (FVPTC), we investigated the diagnosis, prevalence and postoperative course of NIFTP.</p></div><div><h3>Methods</h3><p>We examined retrospectively the records of 112 patients who had undergone thyroid surgery and had a postoperative diagnosis of FVPTC at our hospital from 2010 to 2021. All clinical, radiologic, and pathologic features were evaluated.</p></div><div><h3>Results</h3><p>Only 34 (27.9%) patients met the strict pathologic criteria for NIFTP; 11 cases having been diagnosed as NIFTP initially and 23 after re-evaluation of histopathologic slides. None of the 11 NIFTP patients underwent a 2-stage operation, in contrast to 10 (29.4%) patients initially diagnosed as FVPTC who had a completion thyroidectomy after the initial hemithyroidectomy. The median follow-up was 14.5 (ranging from 0 to 78) months. None of the cases developed a recurrence.</p></div><div><h3>Conclusion</h3><p>To avoid unnecessary treatment or the follow-up advised for papillary thyroid carcinoma, clinicians and pathologists should be familiar with the terminology and the corresponding diagnostic criteria for NIFTP and their impact on management.</p></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"56 2","pages":"Pages 82-87"},"PeriodicalIF":0.0,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9333866","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}
Lourdes Salazar-Huayna , Lourdes Naranjo , Cleofé Romagosa , Miguel Ángel Arcediano , Sahyly Siurana , Santiago Ramón y Cajal , Carme Dinarès
{"title":"Hybrid neurofibroma/schwannoma of the orbit","authors":"Lourdes Salazar-Huayna , Lourdes Naranjo , Cleofé Romagosa , Miguel Ángel Arcediano , Sahyly Siurana , Santiago Ramón y Cajal , Carme Dinarès","doi":"10.1016/j.patol.2022.03.002","DOIUrl":"10.1016/j.patol.2022.03.002","url":null,"abstract":"<div><p><span>Hybrid neurofibroma/schwannoma is a rare variant of hybrid peripheral nerve sheath tumours (HPNST). A Medline search up to December 2021 identified only six cases of this tumour in the orbit. We report the case of a 78-year-old man who presented with left exophthalmos. Computed tomography showed a left intraconal orbital mass. The clinico-radiological diagnosis was consistent with an intraconal cavernous angioma. Orbitotomy was performed, obtaining an 18</span> <!-->×<!--> <!-->16<!--> <!-->×<!--> <!-->11<!--> <span>mm mass. Two different morphologies were seen microscopically, diagnostic of hybrid neurofibroma/schwannoma. HPNSTs of the orbit are uncommon and most reported cases showed a hybrid neurofibroma/schwannoma morphology. Hybrid neurofibroma/schwannomas have been associated with neurofibromatosis<span> and schwannomatosis. Local recurrences have been reported. The correct identification of these tumours is important due to their potential use as a syndromic marker.</span></span></p></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"56 2","pages":"Pages 140-143"},"PeriodicalIF":0.0,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9333868","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}
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":"56 2","pages":"Pages 76-81"},"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}
Álvaro López-Janeiro , Ana Margarita Rodriguez , Marta Mendiola , Rula Nasimi Sabbagh , Jaime Feliu , Arantxa Villadóniga , Maria del Carmen Mendez
{"title":"Pancreatic intraductal papillary mucinous neoplasm with sarcomatous transformation. A case report","authors":"Álvaro López-Janeiro , Ana Margarita Rodriguez , Marta Mendiola , Rula Nasimi Sabbagh , Jaime Feliu , Arantxa Villadóniga , Maria del Carmen Mendez","doi":"10.1016/j.patol.2021.05.004","DOIUrl":"10.1016/j.patol.2021.05.004","url":null,"abstract":"<div><p><span><span>Mixed pancreatic epithelial and mesenchymal tumors are rare, usually invasive, entities. Intraductal papillary mucinous neoplasm (IPMN) is a precursor of </span>invasive ductal carcinoma<span> and shares mutations with its invasive counterparts. We report the case of a 72-year-old female with a previously undescribed sarcomatous transformation of a residual IPMN with no evidence of an invasive component. The mesenchymal component showed no heterologous differentiation. Both the epithelial and the mesenchymal populations showed aberrant expression of p53 protein and the same point mutation in </span></span><em>KRAS</em> gene. After a 6 month follow up, there were no signs of local or distant relapse. The present case suggests that sarcomatous transformation is possible in non-invasive, intraductal pancreatic lesions.</p></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"56 2","pages":"Pages 124-128"},"PeriodicalIF":0.0,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9339124","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}
{"title":"La Patología ante un gran desafío: el impacto de las nuevas clasificaciones de las neoplasias","authors":"Miguel A. Idoate Gastearena","doi":"10.1016/j.patol.2023.03.001","DOIUrl":"https://doi.org/10.1016/j.patol.2023.03.001","url":null,"abstract":"","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"56 2","pages":"Pages 73-75"},"PeriodicalIF":0.0,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49789369","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}
Paula Serret Miralles, Ruth Orellana Fernández, Tamara Parra Parente, Rosa Belén García-Chamón Brígido, Rubén Carrera Salas
{"title":"Tumor de células gigantes óseo en arco costal, tratado con denosumab. Reporte de un caso","authors":"Paula Serret Miralles, Ruth Orellana Fernández, Tamara Parra Parente, Rosa Belén García-Chamón Brígido, Rubén Carrera Salas","doi":"10.1016/j.patol.2021.04.002","DOIUrl":"https://doi.org/10.1016/j.patol.2021.04.002","url":null,"abstract":"<div><p>Giant cell tumour of bone (GCTOB) accounts for 4-5% of all primary bone tumours and occurs most frequently in females between 20 and 45 years old. It is found in the epiphyses of the long bones, vertebral bodies and flat bones.</p><p>We report the case of a 31-year-old woman who presented with a one month history of thoracic pain. On examination, a mass was found in the right breast with signs of an ipsilateral pleural effusion. A thoracic CAT scan revealed an infiltrating mass which was subsequently biopsied and a GCTOB was diagnosed. Due to the localization and the morphology, a wide range of differential diagnoses were considered. Genetic studies detected a mutation of the gene H3F3A, supporting the original diagnosis. The patient underwent treatment with denosumab followed by surgical resection of the mass. The histopathology of the tumour revealed various histological changes which were a source of diagnostic pitfalls.</p></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"56 2","pages":"Pages 119-123"},"PeriodicalIF":0.0,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49814460","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}
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":"56 2","pages":"Pages 113-118"},"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}
Marta Segado Martínez, María Isabel Oviedo Ramírez
{"title":"Villitis crónica granulomatosa asociada a citomegalovirus. Un hallazgo inusual que induce a confusión. A propósito de un caso","authors":"Marta Segado Martínez, María Isabel Oviedo Ramírez","doi":"10.1016/j.patol.2021.10.001","DOIUrl":"https://doi.org/10.1016/j.patol.2021.10.001","url":null,"abstract":"<div><p>Chronic cytomegalovirus (CMV) villitis typically causes inflammation with predominance of plasma cells. The granulomatous reaction in the chorionic villi is usually caused by pathogens other than CMV, such as toxoplasma or rubella. We present a case of a pregnant woman presenting with foetal death in the twentieth week of gestation. The study of the placenta revealed chronic CMV villitis with a granulomatous reaction, rather than the more common plasma cell inflammation.</p></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"56 2","pages":"Pages 129-131"},"PeriodicalIF":0.0,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49814461","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}
{"title":"Mesotelioma papilar bien diferenciado: descripción de tres casos y revisión bibliográfica","authors":"Belén Tristán Martín , Grevelyn Sosa Rotundo , Laura López Brasal , Isabel Alemany Benítez","doi":"10.1016/j.patol.2021.05.002","DOIUrl":"https://doi.org/10.1016/j.patol.2021.05.002","url":null,"abstract":"<div><p>Well Differentiated Papillary Mesothelioma (MPBD) is a very rare neoplasm that mainly affects women of reproductive age. The most common location is the peritoneum and it is an incidental finding, with a generally favorable prognosis. We present three cases diagnosed incidentally, in the course of a surgical intervention of various causes, which presented as peritoneal exophytic lesions not detected in the pre-surgical imaging study. It is important to keep this entity in mind, to differentiate it from other neoplasms with an unfavorable prognosis and evolution, such as Malignant Mesothelioma or primary and metastatic carcinomas. Recent studies give the MPBD a specific immunohistochemical and molecular profile that allow a greater diagnostic precision of the entity.</p></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"56 1","pages":"Pages 69-72"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49836314","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}