Rare TumorsPub Date : 2025-10-08eCollection Date: 2025-01-01DOI: 10.1177/20363613251385760
Lu Lu, Baoyun Wang, Ping Huang, Jiao Du, Yang Yang, Changhuang Yang, Deyi Zheng
{"title":"Trichilemmal carcinoma in China: A case report and systematic literature review.","authors":"Lu Lu, Baoyun Wang, Ping Huang, Jiao Du, Yang Yang, Changhuang Yang, Deyi Zheng","doi":"10.1177/20363613251385760","DOIUrl":"10.1177/20363613251385760","url":null,"abstract":"<p><p><b>Purpose:</b> This study aimed to delineate the clinicopathological characteristics of trichilemmal carcinoma (TLC) in China, analyze its evolving epidemiological trends, and provide insights to improve clinical diagnosis and management through a comprehensive literature review and case-based analysis. <b>Methods:</b> A retrospective analysis of 40 years (1984-2023) was conducted by reviewing Chinese and English databases for TLC cases in Chinese populations. Data on epidemiology, clinical presentation, histopathology, treatment modalities, and prognosis were systematically collated, supplemented by a detailed case report to illustrate diagnostic and therapeutic challenges. <b>Results:</b> Among 230 documented cases, TLC exhibited a near-equal gender distribution (113 males, 117 females) and a rising incidence, with 50.43% (116/230) reported in the last decade (2014-2023). The patients showed a broad age distribution (20-97 years), with lesions predominantly concentrated in the head/neck region (87.83%, 202/230). Non-specific clinical features (papules, nodules, ulceration) contributed to frequent misdiagnosis. Metastasis (13 cases) and recurrence (14 cases), primarily in head/neck tumors, correlated with high mortality. Immunohistochemistry identified CK-H and EMA as key positive markers and S-100/CK-L as negative discriminators, with 23.91% (55/230) showing periodic acid-Schiff (PAS) positivity. Surgical excision was the primary treatment (87.39%), while adjuvant therapies (radiotherapy/chemotherapy) demonstrated limited efficacy. <b>Conclusion:</b> The increasing incidence of TLC in China, its anatomical predisposition to aggressive behavior, and poor prognosis in metastatic/recurrent cases necessitate improving early detection and optimizing treatment strategies for this rare malignancy.</p>","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":"17 ","pages":"20363613251385760"},"PeriodicalIF":0.9,"publicationDate":"2025-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12511706/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145281230","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}
Rare TumorsPub Date : 2025-08-27eCollection Date: 2025-01-01DOI: 10.1177/20363613251372279
Daniel Sergio Garcia, David Campbell, Kathryn McLeod, Richard Grills, Patrick Daniel Preece
{"title":"Fungating testicular germ cell tumours: Case report and narrative review of clinical presentation and management strategies.","authors":"Daniel Sergio Garcia, David Campbell, Kathryn McLeod, Richard Grills, Patrick Daniel Preece","doi":"10.1177/20363613251372279","DOIUrl":"10.1177/20363613251372279","url":null,"abstract":"<p><p>Fungating testicular germ cell tumours represent a rare and extreme manifestation of neglected testicular cancer. These cases typically arise after significant delays in presentation, reflecting advanced local disease and, in many instances, concurrent metastatic spread. We present the case of a 41 year-old man with a year-long history of a progressively enlarging, ulcerated scrotal mass. Biopsy confirmed seminoma without evidence of metastasis. Given the extent of local disease, the patient received neoadjuvant etoposide-cisplatin chemotherapy, resulting in dramatic tumour regression. This facilitated a radical orchidectomy and wide local excision with primary closure and clear margins. He remains disease-free 12 months post-treatment. To better understand the management and outcomes of this rare presentation, a narrative review was performed, indentifying 19 comparable cases of fungating GCTs over the past 28 years. The median age at presentation was 36, with a median diagnostic delay of 6 months. Non-seminomatous subtypes, particularly embryonal carcinoma, predominated and carried a higher risk of metastasis. While upfront surgery was attempted in ten cases, it frequently required extensive resections and yielded positive margins. In contrast, six patients received neoadjuvant chemotherapy, leading to marked tumour regression in five, improved surgical outcomes, and no reported positive margins. These findings highlight the potential advantages of neoadjuvant chemotherapy in managing extensive, locally advanced GCTs, even in Stage I disease. While concerns exist regarding infection risk in the setting of fungating tumours, these were not borne out in the reviewed cases. Multidisciplinary input is invaluable in optimising sequencing of therapy in such complex presentations.</p>","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":"17 ","pages":"20363613251372279"},"PeriodicalIF":0.9,"publicationDate":"2025-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12391718/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144973696","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}
Rare TumorsPub Date : 2025-08-09eCollection Date: 2025-01-01DOI: 10.1177/20363613251366937
Khanh Ha Nguyen, Thi Thanh Trinh
{"title":"Inguinal sebaceous gland carcinoma : A rare case report and literature review.","authors":"Khanh Ha Nguyen, Thi Thanh Trinh","doi":"10.1177/20363613251366937","DOIUrl":"10.1177/20363613251366937","url":null,"abstract":"<p><p>Inguinal sebaceous gland carcinoma is extremely rare, often mistaken for inflammatory skin lesions, leading to delays in diagnosis and treatment. We reported a rare clinical case of a 59-year-old male patient who presented to the hospital with a lesion in the left groin area, characterized by raised nodules, gradually increasing in size, accompanied by itching. The disease had been progressing for over 3 years, with no prior history of sexually transmitted infections or urinary tract infections. The patient underwent wide local excision surgery with lymph node dissection. Histopathological findings and postoperative immunohistochemistry confirmed sebaceous gland carcinoma presenting in the left groin area with metastasis to 2 groin lymph nodes. After surgery, the patient underwent adjuvant radiation therapy. At the end of the radiation therapy, no tumor recurrence was detected, and no radiation-related toxicity was noted. The patient was discharged and followed up regularly. The patient remains stable after 6 months of follow-up, with no signs of disease recurrence or treatment complications. In conclusion, inguinal sebaceous gland carcinoma is sporadic, so clinical features and optimal treatment methods are poorly understood. Further research is warranted to clarify this rare condition.</p>","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":"17 ","pages":"20363613251366937"},"PeriodicalIF":0.9,"publicationDate":"2025-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12335647/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144817863","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}
Rare TumorsPub Date : 2025-08-07eCollection Date: 2025-01-01DOI: 10.1177/20363613251353649
Karolina Vosylius, Gareth Price, Andrea Napolitano, Charlotte Benson, Nicos Fotiadis, Khin Thway, Ka Hou Christien Li, Robin L Jones
{"title":"Efficacy and cardiac safety of aldoxorubicin in metastatic solitary fibrous tumour.","authors":"Karolina Vosylius, Gareth Price, Andrea Napolitano, Charlotte Benson, Nicos Fotiadis, Khin Thway, Ka Hou Christien Li, Robin L Jones","doi":"10.1177/20363613251353649","DOIUrl":"10.1177/20363613251353649","url":null,"abstract":"<p><p>Solitary fibrous tumours (SFT) are very rare mesenchymal neoplasms. While surgery remains a standard treatment for localised disease, effective and long term treatment options for metastatic disease are lacking, making the use of aldoxorubicin a novel and promising systemic treatment in SFTs. We present a 30-year-old male who underwent surgical resection for a solitary fibrous tumour of the right leg. Postoperative imaging revealed metastatic disease in the liver and left upper quadrant. He was initially treated with pazopanib but experienced disease progression after 24 weeks. The patient was then enrolled on a phase III trial evaluating aldoxorubicin for advanced soft tissue sarcomas and received 350 mg/m<sup>2</sup> (260 mg/m<sup>2</sup> doxorubicin equivalent) intravenously every 21 days, cumulative dose being 9100 mg/m<sup>2</sup>. Treatment was well tolerated, with manageable toxicities including alopecia, leukopenia, mucositis, and grade 3 neutropenia requiring G-CSF support. Notably, serial echocardiograms showed no evidence of cardiotoxicity, with a preserved ejection fraction (56-65%). He completed 26 cycles with stable disease, followed by a 7-month treatment break before receiving compassionate-use aldoxorubicin. Disease stability persisted for 6 months until progression, which was treated with radiotherapy. Three months later, systemic progression led to treatment discontinuation. This case illustrates the favourable cardiac safety profile of aldoxorubicin and efficacy in solitary fibrous tumours.</p>","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":"17 ","pages":"20363613251353649"},"PeriodicalIF":0.9,"publicationDate":"2025-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12332252/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144817862","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}
Rare TumorsPub Date : 2025-07-26eCollection Date: 2025-01-01DOI: 10.1177/20363613251346621
Jessie O Oyinlola, Mounia Beloueche-Babari, Monika Frysz, Eleanor Yelland, Amy Walker, Rachael Williams, Robin L Jones
{"title":"Epidemiology and survival outcomes for liposarcoma patients in England: An observational cohort study using real world data.","authors":"Jessie O Oyinlola, Mounia Beloueche-Babari, Monika Frysz, Eleanor Yelland, Amy Walker, Rachael Williams, Robin L Jones","doi":"10.1177/20363613251346621","DOIUrl":"10.1177/20363613251346621","url":null,"abstract":"<p><p><b>Purpose:</b> This real-world data study evaluates demographic and clinical characteristics and survival in patients with liposarcoma to inform our understanding of treatment patterns and associated outcomes in this rare cancer. <b>Materials and methods:</b> A retrospective cohort study was conducted using existing data available through the Clinical Practice Research Datalink. Male and female patients aged 18 years or older who had their first ever record of liposarcoma between 1998 and 2018 were included in the study. The demographic and tumour characteristics were presented (overall, by first line treatment and for dedifferentiated liposarcoma only) as proportions (percentages) while continuous variables were presented as means with standard deviation and interquartile ranges. Survival rates from diagnosis date and first line treatment (with 95% confidence intervals) were also calculated. <b>Results:</b> 1,315 patients were included, of which 46% (611) had a treatment recorded. Most patients were male and over the age of 60 years. Surgery was the most frequent treatment received following diagnosis (34% of all patients), followed by radiotherapy (8%) and chemotherapy (2.4%) with the remaining patients having no record of treatment available. Overall, there was a 77% probability of survival after diagnosis at 5 years. <b>Conclusions:</b> Findings from this study help advance our understanding of real world patient characteristics, treatment patterns and survival outcomes in a rare and heterogeneous cancer, which may be useful for guiding clinical management. This study also identified challenges with using real world data, which can be minimised through improving data collection and standardisation.</p>","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":"17 ","pages":"20363613251346621"},"PeriodicalIF":0.9,"publicationDate":"2025-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12304576/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144745454","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}
Rare TumorsPub Date : 2025-04-11eCollection Date: 2025-01-01DOI: 10.1177/20363613251327080
William W Loughborough, Andrea G Rockall, Tanja T Gagliardi, Laura Satchwell, Emily Greenlay, Piers Osborne, Nishat Bharwani, Thomas Ind, Ayoma Attygalle, Dione Lother, Georgina Hopkinson, Robin Jones, Charlotte Benson, Aisha Miah, Aslam Sohaib, Christina Messiou
{"title":"Comparison of MRI imaging features to differentiate degenerating fibroids from uterine leiomyosarcomas.","authors":"William W Loughborough, Andrea G Rockall, Tanja T Gagliardi, Laura Satchwell, Emily Greenlay, Piers Osborne, Nishat Bharwani, Thomas Ind, Ayoma Attygalle, Dione Lother, Georgina Hopkinson, Robin Jones, Charlotte Benson, Aisha Miah, Aslam Sohaib, Christina Messiou","doi":"10.1177/20363613251327080","DOIUrl":"https://doi.org/10.1177/20363613251327080","url":null,"abstract":"<p><p><b>Objectives:</b> The aim of this study was to construct a diagnostic model from MRI features to distinguish complex leiomyomas/degenerating fibroids (DF) from leiomyosarcoma (LMS). <b>Methods:</b> A retrospective case-controlled study was performed comparing MRI features of patients with pathologically proven DF or LMS. MRI in 42 patients with DF (control group) and 46 with LMS (study group) was used to generate a diagnostic model. Imaging features reported in the literature to distinguish these two entities were scored for each uterine mass by two radiologists unaware of the histological diagnosis. Inter observer variation and univariate analysis was undertaken. Imaging characteristics identified on univariate analysis were used to build a multi-variable diagnostic model and sensitivity and specificity of this model calculated. <b>Results:</b> Taking the features identified on the univariate analysis, the final diagnostic model was based on AP length (<i>p</i> = .053), intermediate T2 signal (IT2), volume (<i>p</i> = .002), and nodular border (<i>p</i> = .001). When the model was implemented back into the training dataset it demonstrated a sensitivity of 70.7%, and a specificity of 76.2%. The sensitivity and specificity of radiologist suspicion score was 74.7% and 70.4%. In addition, morphological features showed only poor or moderate inter observer agreement at best. <b>Conclusions:</b> Morphological MRI imaging features alone are not sufficient to obviate the need for pathological confirmation prior to non-surgical management of complex uterine mass lesions. <b>Trial registration:</b> IRAS project ID 251778 Protocol number: CCR 4992 REC reference 19/YH/0134 Date of HRA approval: 29.4.19.</p>","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":"17 ","pages":"20363613251327080"},"PeriodicalIF":0.9,"publicationDate":"2025-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12033571/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144033975","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":"Expression rate and comparison of immunohistochemistry biomarkers in appendiceal neuroendocrine and other epithelial cell neoplasms: Systematic review and meta-analysis.","authors":"Hedieh Soltani, Mojtaba Ahmadinejad, Arman Shafiee, Fatemeh Afshar Rezaee, Mahya Beik Mohamadi, Atefeh Bahrambeigi, Amir Hossein Hajialigol, Saeedeh Fattan, Javad Zebarjadi Bagherpour","doi":"10.1177/20363613251330179","DOIUrl":"10.1177/20363613251330179","url":null,"abstract":"<p><p><b>Background:</b> Immunohistochemistry (IHC) provides comprehensive information for morphology and pathologic characteristics and is a valuable tool for establishing the correct cancer diagnosis in clinical diagnostic pathology and determining prognosis. <b>Objectives:</b> The current study analyzes and compares the expression of Immunohistochemistry biomarkers on neuroendocrine and epithelial cell types of appendiceal neoplasms. <b>Design:</b> This systematic review adhered to the recommendations in the Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) statement. We performed a meta-analysis employing a random effects model with proportions to gauge the proportion of positive cases. <b>Method:</b> A comprehensive systematic search in PubMed, Web of Science, and Scopus databases was conducted based on the PRISMA statement up to August 2023. Studies reporting the immunohistochemistry biomarkers expression performed in patients with primary appendiceal neuroendocrine and epithelial cell neoplasms according to the most recent World Health Organization classification of malignant tumors were included. <b>Results:</b> Our systematic search included 56 observational articles that meet the eligibility criteria. Meta-analysis revealed an expression rate of 93%, 91%, 87%, 71%, 94%, 99%, 32%, 76%, 25%, and 91% for non-specific enolase (NSE), chromaffin A, synaptophysin, Serotonin, SATB2, Caudal-type homeobox 2 (CDX2), β-catenin, Carcinoembryonic antigen (CEA), Cytokeratin 7, and Cytokeratin 20, respectively. CDX2 and SATB2 were the most expressed markers. The expression rate had a significant association with tumor type. NSE and synaptophysin were the highest in neuroendocrine tumors, whereas CEA was more elevated in gablet cell carcinoids. Cytokeratin 20 is suitable for identifying epithelial cell neoplasms. <b>Conclusion:</b> The study indicates the proportion of positive cases in patients with primary neuroendocrine and epithelial cell appendiceal neoplasms.</p>","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":"17 ","pages":"20363613251330179"},"PeriodicalIF":0.9,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11967222/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143781432","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}
Rare TumorsPub Date : 2025-02-27eCollection Date: 2025-01-01DOI: 10.1177/20363613251324973
Truls Gråberg, Andri Papakonstantinou, Felix Haglund de Flon, Ivan Shabo, Ann Morgell, Christina Linder-Straglitto, Inga-Lena Nilsson, Fredrik Karlsson, Robert Bränström
{"title":"Complete remission in a rare pelvic angiosarcoma with liposomal doxorubicin: A comprehensive case report and review of literature.","authors":"Truls Gråberg, Andri Papakonstantinou, Felix Haglund de Flon, Ivan Shabo, Ann Morgell, Christina Linder-Straglitto, Inga-Lena Nilsson, Fredrik Karlsson, Robert Bränström","doi":"10.1177/20363613251324973","DOIUrl":"https://doi.org/10.1177/20363613251324973","url":null,"abstract":"<p><p>Angiosarcoma, an aggressive sarcoma subtype originating from lymphatic or vascular endothelial cells, is rare, constituting less than 2% of all soft tissue sarcomas. Predominantly affecting adult and elderly patients, it manifests diversely across various anatomical locations, with cutaneous lesions being the most common, particularly in the head and neck region. Noteworthy for its infiltrative nature, angiosarcoma demonstrates high rates of local recurrence and metastasis, leading to poor overall survival. The diagnosis may be difficult due to nonspecific clinical symptoms, and histological examination is essential in this disease. Treatment typically requires radical surgery, with addition of either chemo- or radiotherapy, or occasionally both, but there is a lack of formal evidence for the order of the modalities employed. Emerging therapies, such as targeted medicines and immunotherapy, show promising results in improving outcomes. This report presents a comprehensive analysis of a rare case of a young male with pelvic angiosarcoma. The patient underwent multiple operations, chemotherapy, and radiation, which highlights the complexities in management and the need for a multidisciplinary approach. Despite challenges, the patient achieved complete remission and is disease-free over 16 years after pelvic exenteration, demonstrating the potential for successful long-term outcomes. The case underscores the importance of personalized, multimodal treatment plans and close collaboration between surgeons and oncologists. Continued research into tailored therapies offers hope for improved prognosis and quality of life for individuals facing this uncommon sarcoma.</p>","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":"17 ","pages":"20363613251324973"},"PeriodicalIF":0.9,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11869257/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143543893","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}
Rare TumorsPub Date : 2025-02-20eCollection Date: 2025-01-01DOI: 10.1177/20363613251322866
Victor I Canice Nwagbara, John A Ashindoitiang, Theophilus Ipeh Ugbem, Dino N Magam, Chibuike M Meremikwu, Victor D Nnalue, Maurice E Asuquo
{"title":"Breast cancer in a patient with neurofibromatosis type 1: A case report and review of literature.","authors":"Victor I Canice Nwagbara, John A Ashindoitiang, Theophilus Ipeh Ugbem, Dino N Magam, Chibuike M Meremikwu, Victor D Nnalue, Maurice E Asuquo","doi":"10.1177/20363613251322866","DOIUrl":"10.1177/20363613251322866","url":null,"abstract":"<p><p>Neurofibromatosis 1 (NF1) represents a cluster of clinical features based on the National Institute of Health(NIH) diagnostic criteria. It is a multi-systemic disease with progressive features characterized by variable expression. NF1 is associated with an increased risk of malignancies including breast cancer. Presented was a 56 year old woman with a painless lump in the right breast in the past 15 months. Clinical evaluation revealed features of NF1 and an advanced right breast cancer. Histologic evaluation revealed an invasive ductal carcinoma and she was offered a right modified radical mastectomy. Due to clinical presentation with discrete lesions, NF1 may be diagnosed at presentation with malignancy. Clinicians are urged to be familiar with the subtle features of NF1 for early diagnosis that is largely clinical. Institution of early breast cancer surveillance in patients with NF1 is recommended for early diagnosis and improved outcomes.</p>","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":"17 ","pages":"20363613251322866"},"PeriodicalIF":0.9,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11843692/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143484217","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}
Rare TumorsPub Date : 2025-01-08eCollection Date: 2025-01-01DOI: 10.1177/20363613241313409
Khawla Bahou, Youssef Achour, Mehdi Ilahiane, Hamza Sekkat, Younes Bakali, Mouna Mhamdi Alaoui, Mohammed Raiss, Farid Sabbah, Abdelmalek Hrora
{"title":"Diagnosis and management of benign secreting pancreatic insulinoma: What's new? 4 case report.","authors":"Khawla Bahou, Youssef Achour, Mehdi Ilahiane, Hamza Sekkat, Younes Bakali, Mouna Mhamdi Alaoui, Mohammed Raiss, Farid Sabbah, Abdelmalek Hrora","doi":"10.1177/20363613241313409","DOIUrl":"10.1177/20363613241313409","url":null,"abstract":"<p><p><i>Introduction and importance:</i> Even though insulinoma is the most frequent neuroendocrine tumor, it represents only 2% of pancreatic 2% of all pancreatic neoplasms. Diagnosis is relatively simple, and surgery after accurate determination of the tumors location within the pancreas is the cornerstone of its treatment. <i>Case presentation:</i> We herein report 4 patients undergoing various surgeries for benign secreting insulinomas, after extensive radiological and endoscopic exploration. <i>Clinical discussion:</i> Diagnosis is relatively simple relying on clinical and biological criteria, it must be followed by an extensive and accurate preoperative determination of the tumors localization. The laparoscopic tumoral enucleation is the treatment of choice for small isolated tumors, but open surgery still has its indications. <i>Conclusion:</i> Pancreatic insulinoma is a rare neuroendocrine tumor that can be life-threatening due to hypoglycemic manifestations. The diagnosis is based on clinical and biological criteria. echo endoscopy and to a lesser extent radiological exploration can precisely determine the tumors location. Laparoscopic surgical enucleation of the tumor remains the preferred curative treatment.</p>","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":"17 ","pages":"20363613241313409"},"PeriodicalIF":0.9,"publicationDate":"2025-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11713962/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142956558","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}