AME Case Reports最新文献

{"title":"A staged combined parenteral and enteral nutritional support strategy in an elderly patient with non-small cell lung cancer, severe pneumonia, type II respiratory failure, and pre-existing malnutrition: a case report.","authors":"Qin Ding, Jun-Rong Ding, Qing Wang, Yu Chen, Ping Jiang, Yu-Ping Li, Wei Chen","doi":"10.21037/acr-2026-0176","DOIUrl":"https://doi.org/10.21037/acr-2026-0176","url":null,"abstract":"<p><strong>Background: </strong>Severe respiratory critical illness with multiple comorbidities poses substantial challenges to nutritional management. Malnutrition is common but often underrecognized, and the optimal nutritional strategy remains unclear in patients with concurrent malignancy and prior gastrointestinal surgery. This case report describes the clinical application of a staged combined parenteral nutrition (PN) and enteral nutrition (EN) strategy in an elderly patient with complex multimorbidity, aiming to illustrate a practical, dynamically adjustable approach to nutritional support in similar settings.</p><p><strong>Case description: </strong>A 79-year-old man with a history of gastric malignancy surgery was admitted with coma and dyspnea, and was diagnosed with non-small cell lung cancer, severe pneumonia, type II respiratory failure, and moderate malnutrition [body mass index (BMI) 16.9 kg/m²; Nutritional Risk Screening 2002 (NRS-2002) score 7; Subjective Global Assessment (SGA): moderate malnutrition]. A staged nutritional regimen combining PN and EN via a nasojejunal tube was implemented and dynamically adjusted over three phases based on his gastrointestinal tolerance and clinical evolution. During the intervention, white blood cell count (WBC) decreased from 22.90×10⁹/L to 8.60×10⁹/L and neutrophil percentage from 89.80% to 78.40%, indicating systemic inflammation control. Hemoglobin, total protein, and albumin initially improved but gradually declined with tumor progression. Oxygenation was maintained with peripheral oxygen saturation ≥98.4% under high-flow nasal oxygen after extubation.</p><p><strong>Conclusions: </strong>This case illustrates that in elderly patients with critical respiratory illness complicated by malignancy, prior gastric surgery, and malnutrition, a staged PN-EN combined strategy can be implemented with dynamic adjustments based on tolerance and clinical changes. However, sustained nutritional improvement may be limited by persistent tumor catabolism and disease-related stress. Nutritional support should be closely coordinated with antitumor and anti-infective therapies. The findings are observational and derived from a single case, and further research is needed to confirm broader applicability.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"170"},"PeriodicalIF":0.6,"publicationDate":"2026-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659145/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149184770","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":"Pediatric middle ear actinomycosis: report of two cases.","authors":"Malak Ahmed Almalki, Abdulaziz Hamed Almalki, Nouf Yaqoub, Abdulaziz Alaraifi, Jihad Nassar","doi":"10.21037/acr-2026-0046","DOIUrl":"10.21037/acr-2026-0046","url":null,"abstract":"<p><strong>Background: </strong>Middle ear actinomycosis is a rare condition, with approximately 50 reported cases in the literature. It typically occurs due to dissemination through the Eustachian tube from the nasopharynx to the middle ear and mastoid cavity and presents as chronic suppurative otitis media (CSOM), requiring long-term antibiotics and surgical debridement.</p><p><strong>Case description: </strong>We present two pediatric patients with middle ear actinomycosis. The first is a 7-year-old boy with Joubert syndrome who presented with right-sided persistent otorrhea 6 months after ventilation tube (VT) insertion. Histopathological analysis after surgical exploration showed actinomycosis. The patient underwent another debridement for persistent infection, followed by 3 months course of antibiotics to resolve the infection. The second case was that of a 10-year-old girl with no significant medical history who presented with 4 months history of left-sided otorrhea resistant to multiple courses of oral and topical antibiotics. Histopathological examination of the surgically debrided tissue revealed actinomycosis. The infection resolved after surgical debridement and 3 months course of oral antibiotics.</p><p><strong>Conclusions: </strong>Middle ear actinomycosis is a rare cause of persistent otorrhea in the pediatric population and should be suspected in resistant infections to conventional treatment.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"153"},"PeriodicalIF":0.6,"publicationDate":"2026-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13466925/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148725065","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":"A one-year diagnostic delay of <i>Phthirus pubis</i> infestation mimicking vulvar lichen simplex chronicus in a postmenopausal woman: a case report.","authors":"Xiaoli Sun, Min Lu, Chunmei Zhao","doi":"10.21037/acr-2026-0086","DOIUrl":"https://doi.org/10.21037/acr-2026-0086","url":null,"abstract":"<p><strong>Background: </strong><i>Phthirus pubis</i> infestation is a sexually transmitted ectoparasitic disorder. Its falling global incidence over recent decades has lowered clinicians' diagnostic alertness.</p><p><strong>Case description: </strong>We present a 56-year-old woman who had reached menopause 6 years prior, with recurrent vaginal spotting and severe nocturnal vulvar pruritus lasting for 12 months. She was initially misdiagnosed with postmenopausal abnormal uterine bleeding and vulvar lichen simplex chronicus. Multiple interventions, including hysteroscopic curettage with intrauterine device removal, oral antibiotics, hemostatic agents and long-term topical corticosteroids, failed to relieve her symptoms. During routine physical examination, clinicians identified pinpoint rust-brown parasite fecal stains on her underwear, a diagnostic clue that had been overlooked in prior visits. Repeat vulvoscopy visualized adult <i>Phthirus pubis</i> and nits attached to pubic hair-parasites missed in the first vulvoscopic examination 1 year earlier. Her sexual partner was concurrently diagnosed with pubic lice, confirming transmission via intimate sexual contact. The patient received complete pubic hair shaving followed by seven consecutive days of sitz baths with <i>Stemonae Radix</i> decoction, which fully eliminated vaginal bleeding and pruritus. Both the patient and her partner received identical anti-lice therapy and completed 6 months of follow-up without recurrence.</p><p><strong>Conclusions: </strong>This atypical case indicates that pubic lice infection should remain a differential diagnosis for postmenopausal females with intractable vulvar complaints. For patients with vulvar pruritus refractory to standard topical regimens, gynecologists must conduct thorough inspection of pubic hair and implement early vulvoscopy or dermoscopy to rule out ectoparasites and avoid prolonged mismanagement.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"176"},"PeriodicalIF":0.6,"publicationDate":"2026-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659142/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149184730","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":"Prolonged survival in a 57-year-old female with <i>RB1</i>-wildtype transformed small-cell lung cancer treated with immunochemotherapy and antiangiogenic combined therapy: a case report.","authors":"Liping Kang, Liping Zhao, Xiaolong Chen, Ning Kang, Peiyun Long, Cong Kang, Jianhong Li, Guoping Zhang","doi":"10.21037/acr-2026-0089","DOIUrl":"https://doi.org/10.21037/acr-2026-0089","url":null,"abstract":"<p><strong>Background: </strong>The transformed small-cell lung cancer (T-SCLC) has a dismal prognosis, yet there remains a lack of standardized therapeutic guidelines. While this transformation is predominantly driven by concurrent loss of <i>TP53</i> and <i>RB1</i>, retaining wild-type <i>RB1</i> is exceptionally rare. We report a rare case of <i>RB1</i>-wildtype T-SCLC with prolonged survival to highlight its diagnostic challenges, potential biological mechanisms, and therapeutic management.</p><p><strong>Case description: </strong>A 57-year-old non-smoking woman with no significant prior medical history presented with persistent dizziness, headaches, and vomiting. She was diagnosed with <i>EGFR</i>-mutant stage IV lung adenocarcinoma (LADC; <i>EGFR</i> L858R/R776H, <i>PIK3CA</i> E542K, <i>TP53</i> C176F; <i>RB1</i> wild-type) following surgical resection of brain metastases. Primary lung biopsy was not feasible due to deep tumor location and marked vascularity. She received sequential dacomitinib [progression-free survival (PFS): 14 months] and osimertinib (PFS: 9 months), monitored by serial imaging and dynamic serum neuron-specific enolase (NSE). Rising NSE prompted re-biopsy of a liver metastasis, confirming small-cell lung cancer (SCLC) transformation at 35 months. She then received serplulimab, anlotinib, etoposide, and carboplatin; significant tumor regression was observed after two cycles, though grade 3-4 hematologic toxicities after the third cycle resolved with supportive care. Liver progression after six cycles prompted second-line nab-paclitaxel plus serplulimab and anlotinib, achieving renewed disease control for over 3 months. Treatment adherence was generally good throughout the clinical course. Overall survival (OS) was 5 years and 4 months, with post-transformation survival of 14 months.</p><p><strong>Conclusions: </strong>This case highlights a rare <i>RB1</i>-wildtype transformation from <i>EGFR</i>-mutant LADC to SCLC, suggesting a distinct mechanism of lineage plasticity. Dynamic NSE elevation may serve as an early clinical indicator of transformation when tissue re-biopsy is challenging. The durable response achieved with serplulimab-based chemoimmunotherapy combined with anlotinib provides preliminary support for immunotherapy-based strategies in selected patients with T-SCLC.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"179"},"PeriodicalIF":0.6,"publicationDate":"2026-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659117/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149184880","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":"Thyroid disease-related false-negative ultrasonography and 99mTc-MIBI scintigraphy in primary hyperparathyroidism: a case report and literature review.","authors":"Chenxuan Liu, Bo Xu","doi":"10.21037/acr-2026-0139","DOIUrl":"https://doi.org/10.21037/acr-2026-0139","url":null,"abstract":"<p><strong>Background: </strong>Multiple gland disease associated with primary hyperparathyroidism (PHPT) are relatively rare, and those combined with underlying thyroid diseases are even rarer. This study aimed to investigate the approaches to preoperative localization and enumeration of lesions, as well as the determination of surgical endpoints in such patients.</p><p><strong>Case description: </strong>A female patient was admitted due to \"elevated serum calcium detected for more than 20 days\", with a past medical history of hyperthyroidism and Hashimoto's thyroiditis. Neck ultrasound only suggested a single-gland lesion, and 99mTc-MIBI scintigraphy demonstrated unremarkable findings. Subsequent contrast-enhanced computed tomography (CT) revealed enlarged parathyroid glands posterior to both lobes of the thyroid gland. Preoperative diagnosis was PHPT with suspected multiglandular disease. Bilateral cervical exploration and parathyroidectomy were performed. Intraoperatively, two enlarged parathyroid glands were identified, located posterior to the upper pole of the left thyroid lobe and in the right central compartment respectively. Postoperative pathology confirmed nodular hyperplasia of the parathyroid glands in both lesions.</p><p><strong>Conclusions: </strong>In patients with multiple gland disease associated with PHPT complicated with underlying thyroid diseases, identification of the location and number of lesions is more challenging. Additional imaging examinations should be performed on the basis of first-line tests to clarify the lesions. To avoid missed lesions, more stringent criteria should be applied for determining surgical endpoints beyond the traditional Miami criteria. This case report will provide valuable clinical experience for the diagnosis and treatment of similar cases in the future.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"177"},"PeriodicalIF":0.6,"publicationDate":"2026-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659134/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149184682","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":"Where did the iron go?-a case report of a patient with severe iron deficiency anemia despite parenteral and oral iron supplementation due to semaglutide application.","authors":"Stjepan Šimić, Jure Ćurić, Filip Sedlić, Sanda Mustapić","doi":"10.21037/acr-2026-0027","DOIUrl":"https://doi.org/10.21037/acr-2026-0027","url":null,"abstract":"<p><strong>Background: </strong>Recently, the use of weight loss medications has become increasingly popular. These medications are administered without checking the patient's general condition and potential contraindications. The aim of this case report is to point out caution when administering weight loss medications to patients who are prone to anemia.</p><p><strong>Case description: </strong>A 52-year-old patient presents for an emergency check-up due to severe anemia. He has been started on weight-loss therapy with semaglutide for the past 6 weeks. During the examination, severe sideropenic anemia was verified in the lab findings [hemoglobin (Hb) 81 g/L, mean corpuscular volume (MCV) 70 fL, iron 2 µmol/L, ferritin 10 µg/L]. Parenteral and oral iron supplementation were administered at examination. The patient took oral iron daily for the next 6 months while undergoing gastroenterological treatment. He received parenteral iron on three occasions (total 3 g), with the last parenteral administration immediately after stopping weight loss therapy 6^th months after the initial examination. A complete gastroenterological examination did not reveal a clear cause of the bleeding. Only after stopping semaglutide did the blood count and tissue iron stores recover. Although the exact mechanism of iron loss is still unknown, it is assumed that its absorption is prevented, with increased loss through the mucosa.</p><p><strong>Conclusions: </strong>This case report points to an additional mechanism of iron loss from the body.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"178"},"PeriodicalIF":0.6,"publicationDate":"2026-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659127/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149184775","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":"SMARCA4-deficient undifferentiated thoracic tumors with rare nasal cavity and gluteal metastases: a case report and literature review.","authors":"Danhong Mao, Jinyan Li, Hongbo Chen, Yujie Liu, Ronggang Li, Qihua Peng, Dongying Liu, Zhihui Wang, Lin Xiao","doi":"10.21037/acr-2026-0145","DOIUrl":"https://doi.org/10.21037/acr-2026-0145","url":null,"abstract":"<p><strong>Background: </strong>SMARCA4-deficient undifferentiated thoracic tumor (SMARCA4-UT) is an extremely aggressive malignancy that primarily affects the lung and mediastinum. It predominantly occurs in males with a heavy smoking history, and the associated survival typically does not exceed 1 year. Currently, no standard treatment regimen has been established for this disease, and a limited response to conventional chemotherapy has been noted in SMARCA4-UT. Some studies have suggested that multimodal management combining immunotherapy with chemotherapy and local consolidation therapy may offer a certain survival benefit for this disease.</p><p><strong>Case description: </strong>Here, we report the case of a 73-year-old male with a long history of heavy smoking who was diagnosed with SMARCA4-UT with brain metastasis. The patient exhibited a negative driver gene status and a programmed death ligand-1 (PD-L1) tumor proportion score (TPS) of <1%. During disease progression, he developed rare nasal cavity and gluteal metastases. A multimodal treatment strategy was employed for this patient. Initially, systemic therapy comprising sintilimab plus chemotherapy, along with stereotactic radiosurgery (SRS) for brain metastasis, was administered. This combined approach was followed by consolidation radical radiotherapy for pulmonary lesions, and a partial response (PR) was achieved. Upon disease progression, newly emerging brain, nasal cavity, and gluteal metastases were managed with SRS, surgical resection, and palliative radiotherapy, respectively. The patient ultimately achieved an overall survival (OS) of 27 months.</p><p><strong>Conclusions: </strong>In this case, a comprehensive treatment strategy was implemented, consisting primarily of chemotherapy combined with immunotherapy, along with dynamic and real-time local interventions, such as surgical resection and radiotherapy for residual or oligometastatic lesions. The results indicate that this approach may confer significant survival benefit in patients with SMARCA4-UT with rare nasal cavity and gluteal metastases, irrespective of PD-L1 expression levels.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"175"},"PeriodicalIF":0.6,"publicationDate":"2026-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659125/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149184684","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":"Pulmonary malignant lymphoma requiring surgical lung biopsy for diagnosis following coronavirus disease 2019 infection: a case report.","authors":"Yoshimasa Akiba, Junji Hiraga, Yoshio Nakahara, Yuya Iwata, Saki Ishiya, Toshinari Ito, Toshiki Okasaka","doi":"10.21037/acr-2026-0161","DOIUrl":"https://doi.org/10.21037/acr-2026-0161","url":null,"abstract":"<p><strong>Background: </strong>Pulmonary involvement by peripheral T-cell lymphoma, not otherwise specified (PTCL-NOS), is an exceedingly rare extranodal manifestation with nonspecific radiological and clinical features. Its computed tomography (CT) findings-including ground-glass and consolidative opacities and, in some areas, a crazy-paving appearance-overlap with those of resolving infectious pneumonia and drug-induced lung injury, so that pulmonary lymphoma is readily mistaken for these more common conditions and the diagnosis is often delayed.</p><p><strong>Case description: </strong>A 62-year-old man with a smoking history and stage IIIA classical Hodgkin lymphoma (cHL) treated six years earlier with bleomycin-containing chemotherapy-complicated by resolved grade 1 bleomycin-induced interstitial pneumonia-presented with productive cough and low-grade fever after a mild coronavirus disease 2019 (COVID-19) infection. Chest CT showed diffuse bilateral ground-glass opacities, with areas of a crazy-paving appearance, together with mediastinal and right hilar lymphadenopathy; the soluble interleukin-2 receptor (sIL-2R) level was markedly elevated (1,540 U/mL). Bronchoscopy with bronchoalveolar lavage (BAL) and transbronchial lung biopsy (TBLB) was non-diagnostic, and the patient deteriorated despite broad-spectrum antimicrobial therapy. Video-assisted thoracoscopic surgery (VATS) with wedge resection established the diagnosis of PTCL-NOS, and bone marrow biopsy showed no marrow involvement. Multiple lines of salvage chemotherapy failed to control the disease, and the patient died three months after diagnosis.</p><p><strong>Conclusions: </strong>This case underscores the essential diagnostic role of VATS lung biopsy when bronchoscopic investigation fails in patients with treatment-refractory pulmonary infiltrates. The co-occurrence of prior bleomycin exposure and post-COVID-19 pneumonia created overlapping radiological features that delayed diagnosis. PTCL-NOS should be considered in the differential diagnosis of treatment-refractory pulmonary infiltrates-even when nonspecific patterns such as crazy-paving are present-particularly in patients with a prior history of hematologic malignancy and markedly elevated sIL-2R. The temporal onset of disease following COVID-19 infection in this immunologically predisposed patient further raises awareness of a potential association between severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and lymphomagenesis.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"174"},"PeriodicalIF":0.6,"publicationDate":"2026-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659139/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149184004","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 mixed vascular lymphatic malformation in a pediatric patient: a case report.","authors":"Hui Qin, Meixian Wu, Jiang Lu, Xiaoxin Qin, Zhongjun Liao, Wenhua Qin","doi":"10.21037/acr-2026-0105","DOIUrl":"https://doi.org/10.21037/acr-2026-0105","url":null,"abstract":"<p><strong>Background: </strong>Giant Mixed vascular lymphatic malformation-is a relatively rare congenital anomaly, particularly in pediatric populations. Mediastinal vascular malformations are uncommon in children, and their exact incidence remains poorly defined in the literature. It is not a true neoplasm but rather a low-flow vascular malformation arising from aberrant development of the vascular system during embryogenesis. Due to nonspecific clinical manifestations (e.g., cough, dyspnea) and the deep location of the mediastinum-adjacent to the heart, great vessels, and airways-diagnosis and management pose considerable challenges. Misdiagnosis is common, potentially leading to inappropriate treatment and life-threatening complications. Thus, accurate preoperative imaging is essential for developing safe and effective treatment strategies.</p><p><strong>Case description: </strong>We report the case of a 3-year-old girl who presented with a persistent cough lasting more than 20 days. Imaging revealed a cystic-solid mass measuring approximately 53 mm × 37 mm × 67 mm in the left middle-upper mediastinum. Contrast-enhanced computed tomography (CT) showed mild progressive enhancement of the lesion, with distinct \"branch-like\" vascular structures communicating with the left brachiocephalic vein, consistent with a low-flow vascular malformation. No definite arterial feeding vessel was identified. The mass was well-demarcated from the aorta and heart but caused localized compression and narrowing of the left main bronchus. These imaging findings were consistent with a low-flow vascular malformation. A biopsy obtained via video-assisted thoracoscopic surgery (VATS) confirmed the diagnosis of mixed vascular malformation. Given the high-risk location adjacent to vital mediastinal structures, complete surgical resection was considered extremely hazardous. The multidisciplinary team therefore adopted a non-surgical approach consisting of oral sirolimus as targeted therapy. Following treatment, the child's cough improved significantly.</p><p><strong>Conclusions: </strong>This case illustrates that in children with cystic-solid mediastinal masses, the presence of \"progressive enhancement\" and \"clearly enhanced vascular channels\" on contrast-enhanced CT or magnetic resonance imaging (MRI) should raise suspicion for vascular malformations. Comprehensive imaging assessment is fundamental for accurate diagnosis and formulation of individualized management. For complex mediastinal vascular malformations with high surgical risk, oral sirolimus represents a safe and effective targeted therapeutic alternative, capable of alleviating symptoms and controlling disease progression.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"168"},"PeriodicalIF":0.6,"publicationDate":"2026-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659158/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149184657","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":"Molecular genetic analysis of a case report of undifferentiated pleomorphic sarcoma with rhabdomyosarcomatous differentiation: insights from whole-exome sequencing and literature review.","authors":"Yajing Dong, Jianhao Xu, Lanfen Pan, Ying Yang, Fang Li, Xiaojiao Gao, Tingting Gu, Jingfeng Gu, Song Xu, Zhiyong Deng","doi":"10.21037/acr-2026-0106","DOIUrl":"https://doi.org/10.21037/acr-2026-0106","url":null,"abstract":"<p><strong>Background: </strong>Undifferentiated pleomorphic sarcoma (UPS) is one of the most common high-grade soft tissue sarcomas in adults, accounting for approximately 20-25% of all soft tissue sarcomas. However, the subtype with rhabdomyosarcomatous differentiation is exceedingly rare (<1%), and its clinicopathological and molecular features remain poorly defined.</p><p><strong>Case description: </strong>A 47-year-old woman presented with a 10-day history of abdominal pain, nausea, and vomiting. Imaging revealed an ill-defined cystic-solid mass measuring approximately 80 mm × 64 mm posterior and to the right of the uterus, with indistinct margins from the uterus and adjacent bowel loops, right lower abdominal peritoneal thickening, and pelvic effusion. The patient underwent laparoscopic total hysterectomy with bilateral salpingo-oophorectomy. Histopathological examination showed a high-grade pleomorphic spindle cell neoplasm with scattered rhabdomyoblasts. Immunohistochemistry (IHC) demonstrated focal nuclear positivity for MyoD1 and myogenin, confirming rhabdomyosarcomatous differentiation; desmin was positive, and the Ki-67 proliferation index was approximately 40%. Whole-exome sequencing (WES) identified 5,778 somatic mutations, including seven somatic missense mutations in <i>TP53</i>, <i>ALK</i>, <i>NCOR2</i>, <i>GNAS</i>, <i>GOPC</i>, <i>PLEC</i>, and <i>STIP1</i>, with a moderate tumor mutational burden (TMB) of 9.13 mutations/Mb.</p><p><strong>Conclusions: </strong>This case expands the pathological and molecular spectrum of UPS with rhabdomyosarcomatous differentiation. Increased clinical awareness, thorough immunohistochemical evaluation, and molecular profiling are essential to avoid misdiagnosis and to guide the management of this rare, aggressive sarcoma.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"171"},"PeriodicalIF":0.6,"publicationDate":"2026-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659140/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149184780","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}