Rare Tumors最新文献

{"title":"Exploration of the causative gene in a case of multiple nevoid basal cell carcinoma: A case report.","authors":"Yutong Liu, Xuejun Gao, Lianjing Cao, Jizhen Ren, Yuanxin Miao, Xia Cai","doi":"10.1177/20363613241290394","DOIUrl":"https://doi.org/10.1177/20363613241290394","url":null,"abstract":"<p><p>Nevoid basal cell carcinoma syndrome is a rare autosomal dominant disorder characterized by a diverse clinical presentation, which includes developmental abnormalities and tumorigenesis that can impact multiple organ systems. Basal cell carcinoma is the most common and characteristic clinical presentation in patients with NBCCS. There are three identified causative genes for this disease, the PTCH1 gene located at 9q22-31, the PTCH2 gene at 1p32-34, and the SUFU gene at 10q24.32. In this paper, we report a case of multiple nevoid basal cell carcinoma. The mutated gene in this patient was determined to be the ELP1 gene located on chromosome 9. This patient's ELP1 gene mutation may contribute to the development of multiple nevoid basal cell carcinomas on the face.</p>","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":"16 ","pages":"20363613241290394"},"PeriodicalIF":0.9,"publicationDate":"2024-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11468328/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142477373","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}

{"title":"Novel MEN1-associated retroperitoneal pleomorphic liposarcoma.","authors":"Christopher F McNicoll, Jessica Belmonte, Itzhak Nir, Benjamin D Ferguson","doi":"10.1177/20363613241286934","DOIUrl":"10.1177/20363613241286934","url":null,"abstract":"<p><p>Soft tissue sarcomas are rarely associated with mutations of the MEN1 gene. We report a patient with a large retroperitoneal pleomorphic liposarcoma harboring a rare mutation of the MEN1 gene not previously reported to be associated with soft tissue sarcomas. This report expands the known spectrum of MEN1-associated cancers.</p>","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":"16 ","pages":"20363613241286934"},"PeriodicalIF":0.9,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11418346/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142308748","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}

{"title":"Comprehensive study of ancient schwannoma: Exploring histomorphological diversity and diagnostic challenges.","authors":"Chaithra Gowthuvalli Venkataramana, Soumya Gupta, Rakshatha Nayak, Sinchana Km, Sharada Rai, Ranjitha Rao","doi":"10.1177/20363613241274259","DOIUrl":"10.1177/20363613241274259","url":null,"abstract":"<p><p><b>Background:</b> Ancient schwannoma is a rare subtype of schwannoma characterized by an extended duration of development and distinctive degenerative changes. These changes encompass relative loss of Antoni type A areas, perivascular hyalinization, hemorrhage, cystic necrosis, calcification, and the presence of atypical nuclei that can mimic sarcomatous pleomorphism. These histologic features often lead to diagnostic challenges, with ancient schwannomas frequently being misdiagnosed as malignant tumors. <b>Objectives:</b> This study aims to provide a comprehensive evaluation of the histomorphological spectrum observed in ancient schwannoma. <b>Methods:</b> A retrospective analysis was conducted on 248 schwannoma cases received at our tertiary health centre, spanning the years 2017 to 2023. Among these cases, 25 were identified as ancient schwannoma. Extensive examination of degenerative changes was performed using hematoxylin and eosin-stained paraffin-embedded tissue sections under light microscopy. <b>Results:</b> Patient ages ranged from 22 to 82 years, with a nearly equal distribution between genders (12 females and 13 males). Tumors were located in various anatomical sites including the forearm, brain, abdomen, retroperitoneum, intradural space, lumbar region, and pelvis. Tumor dimensions varied from 1.5 to 11 cm. Histologically, most cases exhibited nuclear atypia, cystic changes, hemorrhage, and siderophages, along with perivascular hyalinization, myxoid change, calcification, and xanthomatous change. Immunohistochemistry confirmed the neural origin of these tumors. <b>Conclusion:</b> Recognition of the diverse spectrum of secondary changes, coupled with the presence of focal areas showing paucicellular and cellular spindle cell arrangements, is crucial for the accurate diagnosis of ancient schwannoma. This study underscores the importance of histomorphological evaluation in distinguishing these benign tumors from malignant counterparts, thereby guiding appropriate clinical management strategies.</p>","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":"16 ","pages":"20363613241274259"},"PeriodicalIF":0.9,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11418358/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142308747","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}

{"title":"Large subserous uterine leiomyoma presenting as intraabdominal tumor: A case report.","authors":"John A Ashindoitiang, Victor I Canice Nwagbara, Ekpo E Edet, Theophilus Ipeh Ugbem, Joseph S Ukam, Maurice E Asuquo","doi":"10.1177/20363613241285089","DOIUrl":"https://doi.org/10.1177/20363613241285089","url":null,"abstract":"<p><p>Uterine leiomyomas are common benign gynecological tumors due to the overgrowth of uterine smooth muscle. Pedunculated uterine leiomyoma occurs when the mass is in continuity with the uterus with a stalk and may grow either within the uterine cavity or outside of the uterus and may mimic ovarian neoplasms or intraabdominal tumors. Presented is a 28-year-old woman with a progressive abdominal swelling in the past 9 months seen at the surgical outpatient of our facility. Preoperative CT suggested a diagnosis of an intrabdominal cystic. She had laparotomy and was offered myomectomies on account of a large subserous uterine mass arising from the right side of the uterine fundus, small subserous fundal mass, intramural mass in the left side of the fundus and a cervical mass. Histology confirmed multiple uterine leiomyomas with extensive cystic degenerative changes of the large subserous uterine myoma and adenomyosis of the left fundal mass. Detecting the continuity of an abdominal mass even with extensive degenerative changes mimicking a cyst in continuity with the uterus by a pedicle sign on imaging in the absence of ascites should arouse the diagnosis of pedunculated subserosal leiomyoma. This should be further heightened when it is found in association with cervical myoma. Subserous uterine leiomyoma should be considered in a patient of childbearing age with a grossly distended abdomen without obvious evidence of pregnancy or malignancy. Large subserous uterine leiomyoma in an intraabdominal location may present with diagnostic and surgical challenges that require interdisciplinary cooperation.</p>","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":"16 ","pages":"20363613241285089"},"PeriodicalIF":0.9,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11406654/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142298253","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}

{"title":"Umbilical nodule, a rare presentation of primary cutaneous endometriosis: Case report and literature review.","authors":"John Adi Ashindoitiang, Victor Ikechukwu Canice Nwagbara, Theophilus Ipeh Ugbem, Joseph Stephen Ukam, Maurice Efana Asuquo","doi":"10.1177/20363613241285148","DOIUrl":"https://doi.org/10.1177/20363613241285148","url":null,"abstract":"<p><p>Umbilical endometriosis or Villar's nodule is defined as the presence of endometrial tissue within the umbilicus and represent 0.5%-1% cases of endometriosis ectopia. It is classified as primary or secondary based on the surgical history. The important symptoms that characterize primary umbilical endometriosis were cyclical pain and a palpable mass that may be associated with bleeding. These features have temporal association with catamenia. Presented is a 30 year old woman with clinical features that suggested primary umbilical endometriosis in the past 5 years. It was confirmed by histology and coexisted with uterine fibroid. In the absence of previous surgery, primary umbilical endometriosis should be considered in the differential diagnosis in females of reproductive age with umbilical pain and nodule related to catamenia. Surgery is the treatment of choice and this should be individualized as some lesions can be managed by local excision with satisfactory outcome regarding the cessation of the presenting symptoms with good cosmetic outcome.</p>","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":"16 ","pages":"20363613241285148"},"PeriodicalIF":0.9,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11406645/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142298254","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}

{"title":"Amphicrine carcinoma of the right colon, a report of a case and review of literature.","authors":"Sahar Al-Mustafa, Basim Aljalabneh, Maysa Al-Hussaini","doi":"10.1177/20363613241266036","DOIUrl":"10.1177/20363613241266036","url":null,"abstract":"<p><p>Mixed neuroendocrine and non-neuroendocrine neoplasms, recently recognized in the WHO classification as (MiNEN), are rare tumors of the gastrointestinal tract. These tumors are composed of two distinct cellular components; a well- or poorly differentiated neuroendocrine tumor and a non-neuroendocrine tumor, usually in the form of an adenocarcinoma, either admixed with or adjacent to one another. A rarer phenotype is a tumor in which the endocrine and epithelial cell features occur within the same cell; i.e. amphicrine carcinoma. Herein, we report the case of an 80-year-old female patient who presented with melena, and who, on biopsy was diagnosed as amphicrine carcinoma that was mismatch repair deficient (MMRd) with loss of MLH1/PMS2 nuclear expression by immunohistochemistry. The histological and immunohistochemical findings of this rare entity are presented with review of pertinent literature.</p>","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":"16 ","pages":"20363613241266036"},"PeriodicalIF":0.9,"publicationDate":"2024-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11372762/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142134147","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}

{"title":"Transmediastinal primary pulmonary liposarcoma: Case report and review of management strategies.","authors":"Taylor Wilcox, Aaron Kleinertz, Benjamin D Seadler, Lyle D Joyce, John Charlson, Paul L Linsky","doi":"10.1177/20363613241274230","DOIUrl":"10.1177/20363613241274230","url":null,"abstract":"<p><p>Soft tissue sarcomas account for less than 1% of new cancer diagnoses, approximately one in five of which are liposarcomas. These tumors typically arise in the deep tissues of the proximal extremity or retroperitoneum, with just under 3% presenting as primary intrathoracic neoplasms. We present an exceedingly rare and particularly unique presentation of primary lung liposarcoma which traversed the mediastinum into the contralateral hemithorax. This report highlights the primary characteristics of the disease and underscores the importance of a multidisciplinary approach to its successful treatment.</p>","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":"16 ","pages":"20363613241274230"},"PeriodicalIF":0.9,"publicationDate":"2024-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11320392/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141977633","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}

{"title":"Infiltrating lobular carcinoma of LUMB HER2+ subtype with rhabdoid feature coexisting with synchronous malignant transformation of phyllodes tumor: An exceedingly rare clinicopathological characteristic in Vietnam.","authors":"Tu Anh Do, Nhung Thi Mai, Duong Ngoc Nguyen, Khoa Hong Pham, Duc Thanh Le, Hung Van Pham, Chu Van Nguyen","doi":"10.1177/20363613241271665","DOIUrl":"10.1177/20363613241271665","url":null,"abstract":"<p><p>The transformation of a benign phyllodes tumor (PT) into a malignant PT and/or carcinoma is extremely uncommon. We present a case of a 66-year-old female with a huge mass on the left breast which was successfully removed by surgical resection. The pathological diagnosis was infiltrating lobular carcinoma with pure rhabdoid features and the malignant transformation of a benign phyllodes tumor. The first time this rare case was reported, it is demonstrated a special phenomenon through the synchronous transformation of PT grades and the carcinomatous transformation of PT.</p>","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":"16 ","pages":"20363613241271665"},"PeriodicalIF":0.9,"publicationDate":"2024-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11301723/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141898563","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}

{"title":"Unexpected diagnosis of rare mesenteric Castleman disease: A case report and literature review.","authors":"Jianan Ji, Mingjie Tang, Hua Liu","doi":"10.1177/20363613241257822","DOIUrl":"10.1177/20363613241257822","url":null,"abstract":"<p><p>In this report, we present an Asian male patient who was 30 years old and admitted to the hospital due to pancreatitis. While undergoing a CT scan, an isolated mass was unexpectedly discovered in the patient's abdomen. The patient's abdominal pain, which was caused by pancreatitis, had resolved before he underwent surgical resection to remove the mass. Subsequently, the patient was diagnosed with Castleman disease based on pathology. Castleman disease occurring in the mesentery is exceptionally rare. Therefore, we have reviewed the essential information regarding Castleman disease and have found that the crucial part lies in the diagnosis and the consideration of distinct treatment strategies based on different types.</p>","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":"16 ","pages":"20363613241257822"},"PeriodicalIF":0.9,"publicationDate":"2024-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11299197/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141894580","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}

{"title":"Clinical characteristics and outcomes of adult alveolar rhabdomyosarcoma patients on first-line systemic therapies: A single-institution cohort.","authors":"Michael S Nakazawa, J Andrew Livingston, Maria A Zarzour, Andrew J Bishop, Ravin Ratan, Joseph A Ludwig, Dejka M Araujo, Neeta Somaiah, Vinod Ravi, Elise F Nassif, Christina L Roland, Alexander J Lazar, B Ashleigh Guadagnolo, Douglas J Harrison, Robert S Benjamin, Shreyaskumar R Patel, Anthony P Conley","doi":"10.1177/20363613241271669","DOIUrl":"10.1177/20363613241271669","url":null,"abstract":"<p><p><b>Background:</b> Rhabdomyosarcomas are the most common soft tissue sarcoma in children, and pediatric alveolar rhabdomyosarcoma (ARMS) prognosis has improved based on cooperative studies. However, in adults, ARMS is significantly rarer, has poorer outcomes, and currently lacks optimal treatment strategies. <b>Objective:</b> This study aimed to evaluate the clinical outcome of an adult ARMS population with different front-line systemic chemotherapies and determine if any chemotherapy regimen is associated with improved survival. <b>Materials and methods:</b> This is a retrospective study of histologically confirmed fusion-positive ARMS patients over 18 years of age, who were treated at MD Anderson Cancer Center (MDACC) from 2004 to 2021 and received systemic chemotherapy. Descriptive clinical statistics were performed, including staging, front-line chemotherapy, multimodal therapy usage, response rates, and survival analyses. <b>Results:</b> 49 ARMS patients who received upfront chemotherapy were identified. Locoregional treatments included radiotherapy (RT) alone (29%, <i>n</i> = 14), surgery alone (10%, <i>n</i> = 5), or both (45%, <i>n</i> = 22). Median overall survival (OS) for the entire cohort was 3.6 years, and the overall response rate to systemic therapy was 89%. No chemotherapy regimen showed OS benefit, specifically analyzing the pediatric-based vincristine, actinomycin-D, cyclophosphamide (VAC) or adult-based vincristine, doxorubicin, ifosfamide (VDI) regimens, even when controlled for other clinical risk factors. <b>Conclusion:</b> In this single-center contemporary series, adult ARMS patient outcomes remain poor. There was no statistically significant OS difference in patients who did or did not receive adult or pediatric based ARMS regimens, although a high overall response rate to chemotherapy was seen across the entire cohort. Based on these observations, further randomized prospective studies are necessary to delineate which frontline chemotherapy regimen is most beneficial in this rare adult cancer.</p>","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":"16 ","pages":"20363613241271669"},"PeriodicalIF":0.9,"publicationDate":"2024-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11299201/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141894579","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}