首页 > 最新文献

Rare Tumors最新文献

英文 中文
Reading level, acuity, and speed evaluation among retinoblastoma survivors: A prospective case series.
IF 0.9 Q4 ONCOLOGY Pub Date : 2024-12-10 eCollection Date: 2024-01-01 DOI: 10.1177/20363613241306191
Sarah Barnett, Sara Malone, Jacob Strelnikov, Allison J L'Hotta, Luke Zabotka, Gregg Lueder, Allison A King, Robert J Hayashi, Daniel N Willis, Margaret Reynolds

Pediatric retinoblastoma survivors exhibit visual deficits. How these visual deficits impact reading skills is unknown. The purpose of this study is to assess reading level, reading acuity, and reading speed among retinoblastoma survivors. Parents of English-speaking retinoblastoma survivors between ages of 8 and 17 consented/assented to participate. Children completed MNRead for reading speed and reading acuity. The Gray Oral Reading Test-Fifth Edition (GORT) was administered to assess reading rate, accuracy, fluency, and comprehension. Five children participated in the study. Two out of five participants fell within the "Below Average" range on the GORT while 3/5 were "Average". One participant with below average performance ranked below average in all four subtests, while the other participant was below average in accuracy and comprehension only. On the MNRead, all five participants had slower maximum reading speeds and worse reading acuity than the baseline measure for their age. Four out of five participants had a higher (i,e., worse) CPS than their expected baseline measure, suggesting that these individuals may require larger print or higher magnification than their peers to achieve effortless reading. These findings suggest that retinoblastoma survivors may experience reading difficulties. Characterizing the reading challenges in retinoblastoma survivors will be critical in advancing interventions to optimize educational attainment in this population.

{"title":"Reading level, acuity, and speed evaluation among retinoblastoma survivors: A prospective case series.","authors":"Sarah Barnett, Sara Malone, Jacob Strelnikov, Allison J L'Hotta, Luke Zabotka, Gregg Lueder, Allison A King, Robert J Hayashi, Daniel N Willis, Margaret Reynolds","doi":"10.1177/20363613241306191","DOIUrl":"10.1177/20363613241306191","url":null,"abstract":"<p><p>Pediatric retinoblastoma survivors exhibit visual deficits. How these visual deficits impact reading skills is unknown. The purpose of this study is to assess reading level, reading acuity, and reading speed among retinoblastoma survivors. Parents of English-speaking retinoblastoma survivors between ages of 8 and 17 consented/assented to participate. Children completed MNRead for reading speed and reading acuity. The Gray Oral Reading Test-Fifth Edition (GORT) was administered to assess reading rate, accuracy, fluency, and comprehension. Five children participated in the study. Two out of five participants fell within the \"Below Average\" range on the GORT while 3/5 were \"Average\". One participant with below average performance ranked below average in all four subtests, while the other participant was below average in accuracy and comprehension only. On the MNRead, all five participants had slower maximum reading speeds and worse reading acuity than the baseline measure for their age. Four out of five participants had a higher (i,e., worse) CPS than their expected baseline measure, suggesting that these individuals may require larger print or higher magnification than their peers to achieve effortless reading. These findings suggest that retinoblastoma survivors may experience reading difficulties. Characterizing the reading challenges in retinoblastoma survivors will be critical in advancing interventions to optimize educational attainment in this population.</p>","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":"16 ","pages":"20363613241306191"},"PeriodicalIF":0.9,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11632865/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142814534","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 granular cell tumor affecting the upper back in a child.
IF 0.9 Q4 ONCOLOGY Pub Date : 2024-12-05 eCollection Date: 2024-01-01 DOI: 10.1177/20363613241290406
Jayalaxmi Shripati Aihole

Granular cell tumors (GCT) are rare mesenchymal tumors belonging to Schwann cell lineage constituting 0.5% of all soft tissue neoplasms. They occur in skin, subcutaneous tissues, mucosal surfaces including within the deeper organs. They are considered unusual and unique neoplasm due to their distinctive pathologic diagnosis. Such a rare case has been discussed here due to unusual age at presentation and in its location.

{"title":"A rare case of granular cell tumor affecting the upper back in a child.","authors":"Jayalaxmi Shripati Aihole","doi":"10.1177/20363613241290406","DOIUrl":"10.1177/20363613241290406","url":null,"abstract":"<p><p>Granular cell tumors (GCT) are rare mesenchymal tumors belonging to Schwann cell lineage constituting 0.5% of all soft tissue neoplasms. They occur in skin, subcutaneous tissues, mucosal surfaces including within the deeper organs. They are considered unusual and unique neoplasm due to their distinctive pathologic diagnosis. Such a rare case has been discussed here due to unusual age at presentation and in its location.</p>","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":"16 ","pages":"20363613241290406"},"PeriodicalIF":0.9,"publicationDate":"2024-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11618904/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142787232","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
The efficacy of combination immunotherapy with ipilimumab plus nivolumab in metastatic myxofibrosarcoma. 伊匹单抗加尼伐单抗联合免疫疗法对转移性肌纤维肉瘤的疗效。
IF 0.9 Q4 ONCOLOGY Pub Date : 2024-11-06 eCollection Date: 2024-01-01 DOI: 10.1177/20363613241290788
Foteini Kalofonou, Andrea Napolitano, Charlotte Benson, Aisha Miah, Shane Zaidi, Daniel Lindsay, Khin Thway, Robin L Jones

We present the case of a patient with Myxofibrosarcoma (MFS), a mesenchymal type of soft tissue sarcoma (STS) and the response to combination immunotherapy with anti PD-1 and anti-CTLA-4 therapy, following disease progression after Standard chemotherapy (SACT) and Radiotherapy (RT). We have shown a timeline of treatment and responses, as well as the overall safety profile and the management of immunotherapy related adverse events. This study demonstrates the potential of checkpoint inhibitors as therapeutic agents in the treatment of MFS.

我们介绍了一名患有间充质类型软组织肉瘤(STS)--肌纤维肉瘤(MFS)的患者的病例,以及在标准化疗(SACT)和放疗(RT)后病情进展的患者对抗PD-1和抗CTLA-4联合免疫疗法的反应。我们展示了治疗和反应的时间表,以及总体安全性和免疫疗法相关不良事件的处理情况。这项研究证明了检查点抑制剂作为治疗药物治疗 MFS 的潜力。
{"title":"The efficacy of combination immunotherapy with ipilimumab plus nivolumab in metastatic myxofibrosarcoma.","authors":"Foteini Kalofonou, Andrea Napolitano, Charlotte Benson, Aisha Miah, Shane Zaidi, Daniel Lindsay, Khin Thway, Robin L Jones","doi":"10.1177/20363613241290788","DOIUrl":"https://doi.org/10.1177/20363613241290788","url":null,"abstract":"<p><p>We present the case of a patient with Myxofibrosarcoma (MFS), a mesenchymal type of soft tissue sarcoma (STS) and the response to combination immunotherapy with anti PD-1 and anti-CTLA-4 therapy, following disease progression after Standard chemotherapy (SACT) and Radiotherapy (RT). We have shown a timeline of treatment and responses, as well as the overall safety profile and the management of immunotherapy related adverse events. This study demonstrates the potential of checkpoint inhibitors as therapeutic agents in the treatment of MFS.</p>","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":"16 ","pages":"20363613241290788"},"PeriodicalIF":0.9,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11542115/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142606815","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
Surgical management of a chest wall osteosarcoma with pleural and lung invasion through en-bloc chest resection and complex reconstruction. Case report. 通过全胸切除和复杂重建手术治疗胸壁骨肉瘤并伴有胸膜和肺部侵犯。病例报告。
IF 0.9 Q4 ONCOLOGY Pub Date : 2024-10-29 eCollection Date: 2024-01-01 DOI: 10.1177/20363613241298536
Santiago A Endara, Gerardo A Dávalos, Armando J Serrano, Santiago Muñoz-Palomeque, M Patricia Pontón, Cynthia D López, G Ariel Diaz

Osteosarcomas of the ribs are rarely reported but have a high potential for pulmonary metastases. The therapeutic strategies for this disease are not well defined. The primary treatment recommendations include wide resection with clear surgical margins and chest wall reconstruction if needed. We present a case of costal osteosarcoma with pleural and lung extension successfully treated by en-bloc thoracic resection with free surgical margins and chest wall reconstruction with rib titanium bars, polypropylene mesh and a rectus abdominis free flap with microvascular anastomoses. This case demonstrates the importance of this therapeutic strategy and highlights the need of early intervention in managing this disease.

肋骨骨肉瘤鲜有报道,但极有可能发生肺转移。这种疾病的治疗策略尚不明确。主要的治疗建议包括手术边缘清晰的广泛切除,必要时进行胸壁重建。我们介绍了一例肋骨骨肉瘤伴胸膜和肺部扩展的病例,该病例通过游离手术切缘的全胸廓切除术以及肋骨钛条、聚丙烯网片和带微血管吻合的腹直肌游离皮瓣的胸壁重建术成功治愈。该病例证明了这种治疗策略的重要性,并强调了早期干预治疗这种疾病的必要性。
{"title":"Surgical management of a chest wall osteosarcoma with pleural and lung invasion through <i>en-bloc</i> chest resection and complex reconstruction. Case report.","authors":"Santiago A Endara, Gerardo A Dávalos, Armando J Serrano, Santiago Muñoz-Palomeque, M Patricia Pontón, Cynthia D López, G Ariel Diaz","doi":"10.1177/20363613241298536","DOIUrl":"10.1177/20363613241298536","url":null,"abstract":"<p><p>Osteosarcomas of the ribs are rarely reported but have a high potential for pulmonary metastases. The therapeutic strategies for this disease are not well defined. The primary treatment recommendations include wide resection with clear surgical margins and chest wall reconstruction if needed. We present a case of costal osteosarcoma with pleural and lung extension successfully treated by en-bloc thoracic resection with free surgical margins and chest wall reconstruction with rib titanium bars, polypropylene mesh and a rectus abdominis free flap with microvascular anastomoses. This case demonstrates the importance of this therapeutic strategy and highlights the need of early intervention in managing this disease.</p>","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":"16 ","pages":"20363613241298536"},"PeriodicalIF":0.9,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11526319/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142559100","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
Exploration of the causative gene in a case of multiple nevoid basal cell carcinoma: A case report. 一例多痣性基底细胞癌的致病基因探究:病例报告。
IF 0.9 Q4 ONCOLOGY Pub Date : 2024-10-07 eCollection Date: 2024-01-01 DOI: 10.1177/20363613241290394
Yutong Liu, Xuejun Gao, Lianjing Cao, Jizhen Ren, Yuanxin Miao, Xia Cai

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.

痣样基底细胞癌综合征是一种罕见的常染色体显性遗传疾病,临床表现多种多样,包括发育异常和可影响多个器官系统的肿瘤发生。基底细胞癌是 NBCCS 患者最常见的特征性临床表现。该病的致病基因有三个,分别是位于 9q22-31 的 PTCH1 基因、位于 1p32-34 的 PTCH2 基因和位于 10q24.32 的 SUFU 基因。本文报告了一例多形性痣基底细胞癌。该患者的突变基因被确定为位于第 9 号染色体上的 ELP1 基因。该患者的ELP1基因突变可能是导致面部多发性痣状基底细胞癌的原因之一。
{"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}
引用次数: 0
Novel MEN1-associated retroperitoneal pleomorphic liposarcoma. 新型 MEN1 相关腹膜后多形性脂肪肉瘤。
IF 0.9 Q4 ONCOLOGY Pub Date : 2024-09-19 eCollection Date: 2024-01-01 DOI: 10.1177/20363613241286934
Christopher F McNicoll, Jessica Belmonte, Itzhak Nir, Benjamin D Ferguson

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.

软组织肉瘤很少与 MEN1 基因突变有关。我们报告了一名患有巨大腹膜后多形性脂肪肉瘤的患者,该患者携带一种罕见的 MEN1 基因突变,而此前从未有报告称该基因突变与软组织肉瘤有关。该报告扩大了 MEN1 相关癌症的已知范围。
{"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}
引用次数: 0
Comprehensive study of ancient schwannoma: Exploring histomorphological diversity and diagnostic challenges. 古老裂隙瘤的综合研究:探索组织形态多样性和诊断难题。
IF 0.9 Q4 ONCOLOGY Pub Date : 2024-09-19 eCollection Date: 2024-01-01 DOI: 10.1177/20363613241274259
Chaithra Gowthuvalli Venkataramana, Soumya Gupta, Rakshatha Nayak, Sinchana Km, Sharada Rai, Ranjitha Rao

Background: 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. Objectives: This study aims to provide a comprehensive evaluation of the histomorphological spectrum observed in ancient schwannoma. Methods: 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. Results: 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. Conclusion: 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.

背景:古神经分裂瘤是一种罕见的亚型神经分裂瘤,其特点是病程长、退行性变化明显。这些变化包括安东尼 A 型区的相对消失、血管周围透明化、出血、囊性坏死、钙化以及可模拟肉瘤多形性的非典型核的存在。这些组织学特征常常导致诊断上的困难,古老的裂隙瘤经常被误诊为恶性肿瘤。研究目的本研究旨在对古分裂瘤的组织形态学谱系进行全面评估。方法:采用回顾性分析方法,对对我们的三级医疗中心在 2017 年至 2023 年期间接收的 248 例神经分裂瘤病例进行了回顾性分析。在这些病例中,有 25 例被确定为古神经分裂瘤。在光镜下使用苏木精和伊红染色的石蜡包埋组织切片对退行性变化进行了广泛检查。检查结果患者年龄从 22 岁到 82 岁不等,性别分布几乎相等(12 名女性和 13 名男性)。肿瘤位于不同的解剖部位,包括前臂、大脑、腹部、腹膜后、硬膜内间隙、腰部和骨盆。肿瘤大小从 1.5 厘米到 11 厘米不等。组织学上,大多数病例表现为核不典型性、囊性改变、出血和梭形细胞,以及血管周围透明化、肌样改变、钙化和黄瘤样改变。免疫组化证实这些肿瘤来源于神经。结论识别继发性变化的多样性,以及显示白细胞和细胞纺锤形细胞排列的病灶区域的存在,对于准确诊断古神经分裂瘤至关重要。这项研究强调了组织形态学评估在区分这些良性肿瘤和恶性肿瘤方面的重要性,从而为适当的临床治疗策略提供指导。
{"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}
引用次数: 0
Large subserous uterine leiomyoma presenting as intraabdominal tumor: A case report. 表现为腹腔内肿瘤的巨大浆膜下子宫肌瘤:病例报告。
IF 0.9 Q4 ONCOLOGY Pub Date : 2024-09-12 eCollection Date: 2024-01-01 DOI: 10.1177/20363613241285089
John A Ashindoitiang, Victor I Canice Nwagbara, Ekpo E Edet, Theophilus Ipeh Ugbem, Joseph S Ukam, Maurice E Asuquo

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.

子宫平滑肌瘤是一种常见的妇科良性肿瘤,由子宫平滑肌过度增生所致。当肿块与子宫连成一体并带有蒂时,就会出现有蒂子宫良性肌瘤,可生长在子宫腔内或子宫腔外,并可能与卵巢肿瘤或腹腔内肿瘤相似。患者是一名 28 岁女性,过去 9 个月来腹部逐渐肿胀,在本院外科门诊就诊。术前 CT 提示诊断为腹内囊肿。她接受了开腹手术,并因子宫底右侧的巨大浆膜下子宫肿块、小的浆膜下子宫底肿块、子宫底左侧的壁内肿块和宫颈肿块而接受了子宫肌瘤剔除术。组织学检查证实了多发性子宫肌瘤,大的浆膜下子宫肌瘤有广泛的囊性退行性病变,左侧宫底肿块有腺肌症。如果在没有腹水的情况下,通过影像学检查发现腹部肿块的连续性,甚至伴有广泛的退行性改变,并通过梗阻征模仿与子宫连续的囊肿,则应引起梗阻性浆膜下子宫肌瘤的诊断。如果与宫颈肌瘤同时发现,则应进一步提高诊断率。如果育龄期患者腹部明显胀大,但没有明显的妊娠或恶性肿瘤迹象,则应考虑浆膜下子宫肌瘤。腹腔内巨大的浆膜下子宫肌瘤可能会给诊断和手术带来挑战,需要多学科合作。
{"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}
引用次数: 0
Umbilical nodule, a rare presentation of primary cutaneous endometriosis: Case report and literature review. 脐带结节,原发性皮肤子宫内膜异位症的罕见表现:病例报告和文献综述。
IF 0.9 Q4 ONCOLOGY Pub Date : 2024-09-12 eCollection Date: 2024-01-01 DOI: 10.1177/20363613241285148
John Adi Ashindoitiang, Victor Ikechukwu Canice Nwagbara, Theophilus Ipeh Ugbem, Joseph Stephen Ukam, Maurice Efana Asuquo

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.

脐部子宫内膜异位症或 Villar 结节是指脐部出现子宫内膜组织,占子宫内膜异位症异位症病例的 0.5%-1%。根据手术史可将其分为原发性和继发性。原发性脐部子宫内膜异位症的主要症状是周期性疼痛和可触及的肿块,并可能伴有出血。这些特征在时间上与子宫内膜异位症有关。本例患者是一名 30 岁女性,其临床特征显示她在过去 5 年中患过原发性脐部子宫内膜异位症。经组织学检查证实,该病与子宫肌瘤同时存在。在没有手术史的情况下,育龄女性出现脐部疼痛和与妊娠有关的结节时,应在鉴别诊断中考虑原发性脐部子宫内膜异位症。手术是首选的治疗方法,但应因人而异,因为有些病变可以通过局部切除术来控制,并在症状消失和美容方面取得令人满意的效果。
{"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}
引用次数: 0
Amphicrine carcinoma of the right colon, a report of a case and review of literature. 右结肠两性癌,病例报告和文献综述。
IF 0.9 Q4 ONCOLOGY Pub Date : 2024-09-03 eCollection Date: 2024-01-01 DOI: 10.1177/20363613241266036
Sahar Al-Mustafa, Basim Aljalabneh, Maysa Al-Hussaini

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.

神经内分泌和非神经内分泌混合瘤是一种罕见的胃肠道肿瘤,最近在世界卫生组织的分类中被认定为(MiNEN)。这些肿瘤由两种不同的细胞成分组成:一种是分化良好或不良的神经内分泌肿瘤,另一种是非神经内分泌肿瘤,通常以腺癌的形式出现,两者相互混合或相邻。一种较罕见的表型是内分泌细胞和上皮细胞特征出现在同一细胞内的肿瘤,即两性细胞癌。在此,我们报告了一例 80 岁女性患者的病例,该患者出现黑色素沉着,活组织切片检查后被诊断为羊膜癌,该肿瘤存在错配修复缺陷(MMRd),免疫组化显示其核表达缺失 MLH1/PMS2。本文介绍了这一罕见病例的组织学和免疫组化结果,并回顾了相关文献。
{"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}
引用次数: 0
期刊
Rare Tumors
全部 Acc. Chem. Res. ACS Applied Bio Materials ACS Appl. Electron. Mater. ACS Appl. Energy Mater. ACS Appl. Mater. Interfaces ACS Appl. Nano Mater. ACS Appl. Polym. Mater. ACS BIOMATER-SCI ENG ACS Catal. ACS Cent. Sci. ACS Chem. Biol. ACS Chemical Health & Safety ACS Chem. Neurosci. ACS Comb. Sci. ACS Earth Space Chem. ACS Energy Lett. ACS Infect. Dis. ACS Macro Lett. ACS Mater. Lett. ACS Med. Chem. Lett. ACS Nano ACS Omega ACS Photonics ACS Sens. ACS Sustainable Chem. Eng. ACS Synth. Biol. Anal. Chem. BIOCHEMISTRY-US Bioconjugate Chem. BIOMACROMOLECULES Chem. Res. Toxicol. Chem. Rev. Chem. Mater. CRYST GROWTH DES ENERG FUEL Environ. Sci. Technol. Environ. Sci. Technol. Lett. Eur. J. Inorg. Chem. IND ENG CHEM RES Inorg. Chem. J. Agric. Food. Chem. J. Chem. Eng. Data J. Chem. Educ. J. Chem. Inf. Model. J. Chem. Theory Comput. J. Med. Chem. J. Nat. Prod. J PROTEOME RES J. Am. Chem. Soc. LANGMUIR MACROMOLECULES Mol. Pharmaceutics Nano Lett. Org. Lett. ORG PROCESS RES DEV ORGANOMETALLICS J. Org. Chem. J. Phys. Chem. J. Phys. Chem. A J. Phys. Chem. B J. Phys. Chem. C J. Phys. Chem. Lett. Analyst Anal. Methods Biomater. Sci. Catal. Sci. Technol. Chem. Commun. Chem. Soc. Rev. CHEM EDUC RES PRACT CRYSTENGCOMM Dalton Trans. Energy Environ. Sci. ENVIRON SCI-NANO ENVIRON SCI-PROC IMP ENVIRON SCI-WAT RES Faraday Discuss. Food Funct. Green Chem. Inorg. Chem. Front. Integr. Biol. J. Anal. At. Spectrom. J. Mater. Chem. A J. Mater. Chem. B J. Mater. Chem. C Lab Chip Mater. Chem. Front. Mater. Horiz. MEDCHEMCOMM Metallomics Mol. Biosyst. Mol. Syst. Des. Eng. Nanoscale Nanoscale Horiz. Nat. Prod. Rep. New J. Chem. Org. Biomol. Chem. Org. Chem. Front. PHOTOCH PHOTOBIO SCI PCCP Polym. Chem.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1