AME Case Reports最新文献

{"title":"Right atrial metastasis after renal cell carcinoma operation: a case report.","authors":"Mei-Juan Zhu, Yu Tang, Ya-Wei Shen, Shawn Dason, Ashorne Krithiesh Mahenthiran, Xian-Wen Zhang","doi":"10.21037/acr-24-258","DOIUrl":"10.21037/acr-24-258","url":null,"abstract":"<p><strong>Background: </strong>Treatment options for patients with high-risk metastatic clear cell renal cell carcinoma (mccRCC) include immune checkpoint inhibitors and tyrosine kinase inhibitors (TKIs), but clinical manifestations and treatment of these patients are rarely reported because patients with cardiac metastases and abrupt circulatory disorders are very rare and there are no precise guidelines to follow. In this study, we analyzed and discussed the clinical characteristics, related characteristics, pathogenesis and treatment strategies of patients with cardiac metastases of kidney cancer, so as to provide reference for the diagnosis and treatment of cardiac metastatic tumors.</p><p><strong>Case description: </strong>The patient was diagnosed with renal cell carcinoma and underwent surgical radical resection, no special treatment was performed after surgery. Metastases of the right thigh muscles and both lungs were found after 4 years, and the patient was treated with 1 cycle of sunitinib + sintilimab. The patient had sudden symptoms of circulatory obstruction, computed tomography angiography (CTA) showed that the right atrial mass was occupied, and cardiac surgery was performed, and the postoperative pathology confirmed that it was kidney cancer heart metastasis, the operation was successful. The patient had aggravated lung infection after 2 weeks of follow-up, and the symptoms improved after treatment with antibiotics, anticoagulation, and nutritional support. This operation relieved the patient's circulatory embolism, saved the patient's life, and prolonged the patient's survival.</p><p><strong>Conclusions: </strong>This case study highlights the rare clinical manifestations of cardiac metastasis from ccRCC. For patients who have the opportunity for surgery, surgical treatment is recommended as the preferred option. Early detection and treatment are the key to prolonging the survival of patients with cardiac metastasis from tumors.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"9 ","pages":"35"},"PeriodicalIF":0.7,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11759929/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143047330","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":"Ultrasound, Doppler and other signs during drug-free transition from subclinical hypothyroidism to euthyroidism: a case report.","authors":"Andrey Valerievich Ushakov","doi":"10.21037/acr-24-59","DOIUrl":"10.21037/acr-24-59","url":null,"abstract":"<p><strong>Background: </strong>It is known that subclinical hypothyroidism (SCH) often converts to euthyroidism. However, the mechanism of such changes is unclear and can only be speculated. This difficulty is likely due to limitations in diagnostic guidelines and their interpretation. Therefore, in the presented case, important diagnostic criteria that can improve understanding of the essence and pathogenesis of primary hypothyroidism are shown and explained.</p><p><strong>Case description: </strong>A 15-year-old female patient experienced a transition from SCH to euthyroidism against the background of highly normal values of thyroid hormones, the full state of the thyroid parenchyma and significantly increased blood flow in the Doppler mode. She did not take medications. Conditions likely to trigger SCH included acute respiratory illness, living in a cold climate, and mental stress due to prolonged preparation for exams. The transition to euthyroidism occurred after sufficient stay in the conditions of a southern resort in the summer and mental comfort.</p><p><strong>Conclusions: </strong>As a result, it was revealed that the amount of thyroid-stimulating hormone (TSH) depends on the intensity of energy expenditure of the body in accordance with living conditions. The increased intensity of blood flow in the thyroid during SCH and euthyroidism shows the leading role of the autonomic nervous system and the auxiliary importance of TSH. The concentration of thyroid hormones at the maximum limit of normal in SCH, together with the significantly increased Doppler blood flow, suggests common elements of pathogenesis with Graves' disease through the autonomic nervous system. With many months of thyroid overstrain, ultrasound shows signs of corresponding depletion in the form of hypoechogenicity of the lobules, but the preservation of a sufficient amount of hormone-producing tissue.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"9 ","pages":"32"},"PeriodicalIF":0.7,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11759927/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143047933","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":"Giant thymolipoma in a 16-year-old girl with multimodal diagnostic approach and surgical management: a case report.","authors":"Ziwei Wang, Jicheng Xiong, Lin Peng, Xiaobo Wu, Yongtao Han, Yi Zhu, Xuefeng Leng","doi":"10.21037/acr-24-157","DOIUrl":"10.21037/acr-24-157","url":null,"abstract":"<p><strong>Background: </strong>Thymolipomas are rare benign mediastinal tumors primarily occurring in young adults, although they can also present in pediatric populations. These tumors are often asymptomatic, but their substantial size can create significant diagnostic and therapeutic challenges, necessitating careful evaluation and management.</p><p><strong>Case description: </strong>A teenage girl was diagnosed with a giant thymolipoma, which was discovered incidentally during a routine chest radiograph. Notably, the patient remained asymptomatic despite the tumor's considerable size and its apparent impact on surrounding thoracic structures. To facilitate a thorough preoperative assessment, a multimodal imaging approach was employed, including contrast-enhanced ultrasound (CEUS), computed tomography (CT), and magnetic resonance imaging (MRI). These advanced imaging techniques played a crucial role in delineating the tumor's extent, characteristics, and relationship to adjacent anatomical structures, thereby informing surgical planning. Ultimately, the tumor was successfully excised through a median sternotomy. Postoperative pathological examination confirmed the diagnosis of thymolipoma. Remarkably, after a follow-up period of five years, the patient showed no signs of recurrence and maintained a healthy status.</p><p><strong>Conclusions: </strong>This case underscores the effectiveness of a multimodal imaging strategy for the diagnosis and preoperative assessment of pediatric thymolipomas. It emphasizes the feasibility of complete surgical resection, even for large tumors, leading to a favorable prognosis. Moreover, it highlights the importance of tailored management strategies for pediatric patients with rare thoracic tumors, as evidenced by this successful clinical outcome.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"9 ","pages":"25"},"PeriodicalIF":0.7,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11759932/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143048101","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":"The diagnosis of eosinophilic granulomatosis with polyangiitis has been 'masked' by asthma: a case report.","authors":"Hua Xie, Xiaojun Zhang, Junli Zhang, Meicen Liu, Xiangqian Che","doi":"10.21037/acr-24-79","DOIUrl":"10.21037/acr-24-79","url":null,"abstract":"<p><strong>Background: </strong>Patients with asthma exhibit a significantly heightened susceptibility to eosinophilic granulomatosis with polyangiitis (EGPA) when compared to the general population. Vigilance for EGPA manifestations is crucial, especially in cases where asthma remains poorly controlled despite high-dose corticosteroid therapy or when eosinophil counts exceed 5%. The diagnosis of EGPA can be complex due to the absence of definitive biomarkers, as indicated by the American College of Rheumatology (ACR)'s 1990 classification criteria. EGPA is categorized as an antineutrophil cytoplasmic antibody (ANCA) associated vasculitis, with updated classification criteria released in 2022, which require a cumulative score of 6 or more for the diagnosis of small and medium vessel vasculitis. Enhancing knowledge of EGPA facilitates its early detection and effective management.</p><p><strong>Case description: </strong>The patient was initially diagnosed with allergic rhinitis in 2006 and developed cough and wheezing in 2016. In 2017, EGPA was diagnosed based on ACR criteria, with a cumulative score of 14 according to the 2022 ACR and the European League Against Rheumatism (ACR/EULAR) criteria, indicating small and medium vessel vasculitis. The patient showed myocardial, gastric, and neurological involvement, reflecting generalized EGPA. Prognostic assessments should use the five-factor score (FFS), which indicates a 46% 5-year mortality rate for those with an FFS of 2 or higher. This patient had an FFS of 3, tested negative for ANCA, and cardiac emission computed tomography (ECT) confirmed myocardial involvement. However, as EGPA was diagnosed only 13 months after the onset of wheezing, the patient had been undergoing glucocorticoid therapy, as of today (7 years later), has effectively managed the symptoms and facilitated normal daily activities.</p><p><strong>Conclusions: </strong>If asthma symptoms persist despite intensive corticosteroid treatment or the eosinophil count exceeds 5%, consider the possibility of EGPA. The presence of ANCA exerts a substantial impact on the prognostic outcomes in EGPA. ANCA-negative patients typically exhibit reduced survival rates, primarily attributed to a higher incidence of cardiac involvement. Nevertheless, advancements in early diagnosis and therapeutic interventions have led to improved survival rates, even in cases complicated by cardiac and pulmonary manifestations.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"9 ","pages":"31"},"PeriodicalIF":0.7,"publicationDate":"2024-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11760517/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143047815","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":"Fibromatosis of the breast: a case report and literature review.","authors":"Olutayo Sogunro, Sahlia Joseph-Pauline, Eniola Oluyemi, Seoho Lee, Jeffrey Pinco","doi":"10.21037/acr-24-84","DOIUrl":"10.21037/acr-24-84","url":null,"abstract":"<p><strong>Background: </strong>Fibromatosis of the breast, also known as desmoid-type fibromatosis (DTF), is a rare tumor marked by the development of non-metastatic, locally aggressive tumors in breast tissue. It represents only 0.2% of all breast tumors. It is a nonmalignant tumor that often resembles cancer in both its clinical presentation and radiologic imaging characteristics, posing unique diagnostic and management challenges.</p><p><strong>Case description: </strong>This is a case report of a 34-year-old female with a history of bilateral silicone implant placement who presented with bilateral breast masses. She reported a 6-month history of a 1-cm firm, palpable mass in the right breast without associated pain or growth. She had a family history of breast, pancreatic, and prostate cancer but no significant past medical history. Ultrasound-guided biopsy of the right breast and magnetic resonance imaging (MRI)-guided biopsy of the left breast both revealed fibromatoses. She underwent bilateral excisional biopsies and surgical pathology confirmed breast fibromatosis in the background of benign breast tissue with fibrocystic changes. The patient had an uncomplicated post-operative course.</p><p><strong>Conclusions: </strong>This case report of a patient with prior breast augmentation surgery highlights the clinical presentation, diagnosis, and management of breast fibromatosis. The intricate relationship between desmoid tumors and factors such as tissue injury, surgical trauma, exogenous hormone exposure, and genetics is discussed. Ultimately, comprehensive diagnostic and therapeutic approaches with individualized treatment strategies are essential for managing fibromatosis effectively.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"9 ","pages":"24"},"PeriodicalIF":0.7,"publicationDate":"2024-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11759925/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143048042","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":"AQP4 antibody-seropositive neuromyelitis optica spectrum disorder in a patient with mixed connective tissue disease: a case report.","authors":"Ennio Polilli, Paola Volpe, Jessica Elisabetta Esposito, Annalisa Di Risio, Caterina Di Carmine, Giancarlo Di Iorio, Marco Gabini, Pierluigi Tocco","doi":"10.21037/acr-23-48","DOIUrl":"10.21037/acr-23-48","url":null,"abstract":"<p><strong>Background: </strong>Neuromyelitis optica spectrum disorders (NMOSDs) are degenerative diseases frequently associated with severe recurrences and high risk of progressive disability. In this report, we describe an unusual case of a patient with the coexistence between NMOSD and mixed connective tissue disease (MCTD).</p><p><strong>Case description: </strong>A 58-year-old Caucasian man was admitted to the Emergency Department (ED) with low back pain and walking inability. He had an unsteady gait, paraesthesia of the lower limbs and pain in the left lumbar area of the spine. He previously manifested repeated episodes of Raynaud's phenomenon. The neurological examination revealed pyramidal signs with asymmetric and progressive paraparesis associated with hypoesthesia and bladder dysfunction. A spine magnetic resonance imaging (MRI) revealed the presence of a long extensive cervico-dorsal myelitis. Among laboratory analyses, serum immunometric examinations came back positive for anti-RNP (272 U/mL) and anti-SSA (20 U/mL) antibodies, whereas a recombinant immunofluorescence assay revealed the presence of immunoglobulin G (IgG) antibodies against AQP4. Consequently, he was treated with high-doses of corticosteroids, with progressive resolution of symptoms. To date, his last cervico-dorsal spine MRI showed negative results.</p><p><strong>Conclusions: </strong>Only a few anecdotal cases of the coexistence between NMOSD and MCTD have so far been described, and many clinical aspects of this association are not yet fully known. Missed diagnosis of rheumatologic or neurologic diseases may lead to treatment delay and, potentially, irreversible disability. Closer collaboration between neurologists and rheumatologists is needed for the early diagnosis of both diseases.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"9 ","pages":"30"},"PeriodicalIF":0.7,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11761318/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143047916","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":"Uterine cystic adenomyosis: a case report.","authors":"Xudong Ma, Jinlu Shen, Rongrong Tang, Fangying Sun, Wenjie Chen, Jianhua Yang","doi":"10.21037/acr-24-143","DOIUrl":"10.21037/acr-24-143","url":null,"abstract":"<p><strong>Background: </strong>Uterine cystic adenomyosis (CA) is a unique form of adenomyosis with a single or fused lumen of the cystic space exceeding a diameter of 1 cm that typically results in progressively worsening dysmenorrhea. In most cases, the prognosis and pregnancy outcomes of CA remained unclear, and therefore further studies are warranted.</p><p><strong>Case description: </strong>A 19‑year‑old woman was admitted for irregular vaginal bleeding that lasted for more than one month. Transabdominal B-ultrasound examination revealed a hypoechoic nodule measuring approximately 4.8 cm × 3.9 cm × 4.9 cm that is situated on the posterior wall of the uterus, in close proximity to the uterine fundus. The preoperative diagnosis was concluded as a pelvic mass with a cancer antigen 125 (CA125) level of 51.48 U/mL. She accepted a laparoscopic myomectomy and the CA lesion crossing the myometrium was removed. During operation, dense adhesions were found among a portion of the colorectum, omentum, uterus and bilateral adnexal areas. A cystic mass of approximately 7.0 cm × 5.0 cm × 4.0 cm was visible in the posterior wall of the uterus, and a sinus of approximately 1.0 cm in diameter was found to be connected to the uterine cavity at the lower posterior wall of the uterus, and the cystic wall was attached to the endometrium. Based on the classification criteria of MUSCLE (myometrial location, uterine site, structure, contents, level, endometrial or inner lining), the current case is classified as an A1-B1 mixed type. Following surgery, GnRH-a consolidation therapy was applied for 3 months. Such treatment relieved her symptoms and improved her quality of life while preserving her reproductive function.</p><p><strong>Conclusions: </strong>This is the first reported case of an A1-B1 mixed type CA that was successfully treated by laparoscopic surgery supplemented with GnRH-a consolidation therapy.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"9 ","pages":"23"},"PeriodicalIF":0.7,"publicationDate":"2024-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11760926/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143047852","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":"Gastric cancer patient with <i>MET</i> amplification treated with crizotinib achieves long-term survival: a case report.","authors":"Weifeng Xu, Caiyun Nie, Hui Wang, Huifang Lv, Beibei Chen, Jianzheng Wang, Saiqi Wang, Jing Zhao, Yunduan He, Zhongkang Li, Haiyan Kang, Xiaobing Chen","doi":"10.21037/acr-24-118","DOIUrl":"10.21037/acr-24-118","url":null,"abstract":"<p><strong>Background: </strong>Gastric cancer (GC) is one of the leading contributors to global malignancies incidence and mortality worldwide. Advanced GC had a relatively poor prognosis. The emerging of targeted therapy improved the survival and prognosis of GC patients. In the treatment of GC, crizotinib, although an unapproved drug, has shown satisfactory treatment benefits in some cases.</p><p><strong>Case description: </strong>A GC hepatocyte growth factor receptor (<i>MET</i>) amplification patient with extensive abdominal cavity metastasis who was diagnosed as intermediate-low differentiated adenocarcinoma. After 34 months of treatment with crizotinib, the patient's <i>MET</i> gene amplification mutation disappeared and gained high-quality life during this period. However, based on new testing evidence, the patient's tumor lesion did not disappear and there were Class II mutations such as <i>tumor protein p53</i> (<i>TP53</i>) mutations and <i>kirsten rat sarcoma viral oncogene homologue</i> (<i>KRAS</i>) amplification, Class III mutations such as <i>caspase recruitment domain family member 11</i> (<i>CARD11</i>)<i>, lysine methyltransferase 2D</i> (<i>MLL2</i>)<i>, and kinetochore localized astrin binding protein</i> (<i>C15orf23</i>) mutations. Based on genetic testing results, a mini patient-derived xenograft (miniPDX) mouse model was used for drug sensitivity testing to screen effective targeted drugs for this patient. The time window since the miniPDXs model establishment and drug sensitivity results came out took about 2 weeks. The final analysis showed that trametinib exhibited a strong inhibition of tumor cell growth in this sample.</p><p><strong>Conclusions: </strong>This report describes a GC <i>MET</i> amplification patient who treated with crizotinib for 34 months. During the period, the patient's <i>MET</i> amplification mutation disappeared and gained high-quality life. After drug resistance developed, trametinib was used according to the new mutation sites. Until now. The patient got a good quality of life for three years, which is relatively rare among the reported cases.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"9 ","pages":"27"},"PeriodicalIF":0.7,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11761320/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143048073","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":"Phakomatosis pigmentovascularis type 2a: a rare case report.","authors":"Ahmed Dilli, Rawan AlDosari, Ruba Altowayan, Yasmeen Alfouzan, Asem Shadid, Lamia Alakrash","doi":"10.21037/acr-24-12","DOIUrl":"10.21037/acr-24-12","url":null,"abstract":"<p><strong>Background: </strong>Phakomatosis pigmentovascularis (PPV) is a rare congenital cutaneous syndrome characterized by capillary malformation and extensive dermal melanosis. The complexity of PPV is reflected in its evolving classification systems. Systemic manifestations encompass ocular, neurological, vascular, musculoskeletal, and renal involvement. The pathogenesis, linked to abnormalities in neural cell development and migration, contributes to the varied clinical features of PPV. We describe a rare case of a 21-month-old Saudi girl who presented to our clinic with features of PPV type 2a.</p><p><strong>Case description: </strong>A 21-month-old Saudi girl presented to the clinic with erythematous to violaceous patches and diffuse greyish patches over her back and buttocks since birth. Examination revealed port-wine stains, extensive Mongolian spots, and a slight lower limb length discrepancy. The mother reported a single febrile seizure episode previously. The patient underwent an ophthalmological examination where the overall impression was unremarkable. She was referred to Pediatric Neurology for further investigation.</p><p><strong>Conclusions: </strong>PPV manifests through the simultaneous presence of vascular and melanocytic components. The classification of PPV has evolved over time, incorporating additional types and simplified groupings. Our case aligns with PPV type 2a and underscores the necessity for investigations considering potential systemic complications. Despite the generally benign course of PPV, tailored interventions, such as laser therapy, prove valuable for cosmetic improvement. The importance of regular follow-ups and collaboration among medical specialties, especially in Neurology, Ophthalmology, and Vascular surgery, is necessary for comprehensive care of individuals with PPV.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"9 ","pages":"19"},"PeriodicalIF":0.7,"publicationDate":"2024-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11759924/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143048158","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":"Radical tumor resection of a relapsed high-grade endometrial stromal sarcoma with an extremely rare mutation: a case report.","authors":"Anastasios Potiris, Athanasios Zikopoulos, Dimitrios Baltogiannis, Alexandros Fotiou, Theodoros Karampitsakos, Spyridon Topis, Charikleia Skentou, Panagiotis Christopoulos, Ekaterini Domali, Peter Drakakis, Sofoklis Stavros","doi":"10.21037/acr-24-177","DOIUrl":"10.21037/acr-24-177","url":null,"abstract":"<p><strong>Background: </strong>Endometrial stromal sarcomas (ESS) are rare uterine mesenchymal tumors that histologically resemble endometrial stroma of functioning endometrium. The key characteristic of those tumors is the difficulty to diagnose preoperatively that leads to high rate of misdiagnosis. The aim of this case report is to present an extremely rare mutation of these already rare tumors and urge for more personalized therapies in the future.</p><p><strong>Case description: </strong>We present a case of a 62-year-old postmenopausal patient initially diagnosed with high-grade ESS (HG-ESS). In her routine follow-up, her computerized tomography (CT) and positron emission tomography-CT (PET-CT) scan showed a relapse in the vaginal vault and enlarged left iliac lymph nodes. The patient did not respond to chemotherapy and suffered from severe abdominal pain and her quality of life severely deteriorated. A cytoreduction laparotomic surgery was decided with complete resection (R0) of the tumor in the pelvis with no visible residual disease. Chemosensitivity and gene expression analysis report showed a high tumor mutation burden with 11 mutations/Mb and the detection of <i>COL1A1</i>-<i>PDGFβ</i> fusion. <i>COL1A1</i>-<i>PDGFβ</i> fusion is an extremely rare mutation observed in ESS with only a handful of cases in the literature and is suggestive of potential therapeutic benefit from imatinib administration. HG-ESS have frequent recurrences and intermediate prognosis.</p><p><strong>Conclusions: </strong>Recurrent or advanced tumors should be treated aggressively with chemotherapy and radiation. Effort for complete resection and targeted therapy should be offered to the patients. Discovery of rare mutations might offer better personalized therapies in the future. Despite its radicality, cytoreductive surgery is a valid option in cases where life quality has severely deteriorated, offering a few qualitative months of life to the patient.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"9 ","pages":"26"},"PeriodicalIF":0.7,"publicationDate":"2024-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11760518/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143048160","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}