Rare Tumors最新文献

{"title":"Bilateral breast metastatic rectal cancer with MET gene amplification: A rare case report.","authors":"Dung Thi Nguyen, Thanh Huy Nguyen, Ha Thu Le, Hien Thu Truong","doi":"10.1177/20363613261483424","DOIUrl":"https://doi.org/10.1177/20363613261483424","url":null,"abstract":"<p><p>Breast metastases originating from colorectal cancer are extremely rare, accounting for <0.5% of all malignant lesions of the breast and are often associated with histopathological forms with a poor prognosis, such as mucinous or signet-ring cells, in which bilateral breast metastases are even rarer. In this case report, we present a female patient in her early 50s. In April 2023, the patient was diagnosed with cT3N2M0 rectal cancer. After that, the patient underwent Miles surgery, followed by 12 cycles of mFOLFOX6 adjuvant chemotherapy, and received adjuvant chemoradiation therapy (50.4 Gy plus Capecitabine). The patient was discharged in January 2024. However, 7 months later, due to a palpable mass in her breast, the patient was found to have bilateral breast lesions and peritoneal metastases. Biopsies were taken from the lesions in both breasts and immunohistochemistry revealed that the tumors originated from the rectum with genetic testing detecting MET gene amplification. Thereafter, the patient was treated with many regimens, but the disease did not respond and progressed rapidly. The patient died six months after the recurrence of the disease was detected. In conclusion, breast metastases are a poor prognostic feature for colorectal cancer. Patients presenting with malignant breast lesions and a history of non-breast malignancy require careful differential diagnosis.</p>","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":"18 ","pages":"20363613261483424"},"PeriodicalIF":1.2,"publicationDate":"2026-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13542538/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148898036","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":"Urine 5-HIAA and quality of life in neuroendocrine neoplasia. Is there an association?","authors":"Rayhan Chaudhry, Benjamin E White, Kandiah Chandrakumaran, Royce P Vincent, Dominique Clement, Wiaam Al-Hasani, Debra Gray, Jordan Randell, Rajaventhan Srirajaskanthan, John Ramage","doi":"10.1177/20363613261484137","DOIUrl":"10.1177/20363613261484137","url":null,"abstract":"<p><strong>Background: </strong>To determine whether urine 5-HIAA (u5HIAA) concentrations correlate with health-related quality of life (HRQL) in patients with neuroendocrine neoplasms (NEN).</p><p><strong>Methods: </strong>A retrospective single-centre cross-sectional study was conducted including 386 patients with histological or radiological diagnosis of NEN. Patients completed standardized questionnaires at clinic appointments. Spot u5HIAA concentrations were correlated with Patient Health Questionnaire-9 (PHQ-9) depression scores, Generalized Anxiety Disorder-7 (GAD-7) anxiety scores, European Organisation for Research and Treatment of Cancer Quality of Life Questionnaire Core 30 (EORTC QLQ-C30) scores, and the Quality of Life Questionnaire Gastrointestinal Neuroendocrine Tumour Module 21 (QLQ-GINET21) scores. Correlation was evaluated with the Spearman rho test.</p><p><strong>Results: </strong>258 patients had completed HRQL data and corresponding u5HIAA available. Unknown primary sites and sites which do not typically secrete 5-HIAA (26 cases) were excluded in the analysis making a total of 232. One hundred and nineteen (51.3%) were male, 145 (62.5%) had a small intestine primary. Median age was 66 years and median u5HIAA was 7.8 µmol/mmol. Males had significantly higher u5HIAA (median:10.0, IQR: 5.6 - 15.4) compared to females (5.6, IQR: 3.3 - 11.3) (p=0.001). Males reported significantly higher Global Health Status (p=0.018) and lower GINET21 (p=0.001), GAD-7 (p=0.001) and PHQ-9 (p=0.009) scores. Within the overall cohort, there was a significant association between high u5HIAA and low GAD-7 (p=0.032); and between high u5HIAA and low GINET21 GI symptoms (p=0.024). No significant association was found between u5HIAA and PHQ-9 (p=0.383), QLQ GINET21 endocrine symptoms (p=0.197), EORTC QLQ-C30 Global Health Status (p=0.746) or diarrhoea score (p=0.305).</p><p><strong>Conclusion: </strong>High circulating concentrations of serotonin may be associated with less anxiety in patients with NEN, further prospective studies are required to corroborate these results. Males had higher u5HIAA and fewer symptoms than females. The sex differences in 5-HIAA values and HRQL in this cohort warrant further investigation.</p>","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":"18 ","pages":"20363613261484137"},"PeriodicalIF":1.2,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13530514/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148876166","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":"Spindle cell (sarcomatoid) squamous cell carcinoma of the esophagus: A case report and a review of the literature.","authors":"Rokia Sakr, Jingjing Hu, Charmi Patel","doi":"10.1177/20363613261478718","DOIUrl":"10.1177/20363613261478718","url":null,"abstract":"<p><p>Esophageal squamous cell carcinoma (SCC) is a significant global health issue, and spindle cell squamous cell carcinoma (SpCC) is a rare variant accounting for up to 2% of cases. SpCC is characterized by a biphasic histological pattern comprising both carcinomatous and sarcomatous components. Patients typically present with dysphagia, painful swallowing, and weight loss. Diagnosis is challenging due to sampling limitations in biopsy specimens, often leading to misclassification as conventional SCC or sarcoma. In this case, a white American 65-year-old male presented with worsening dysphagia and weight loss. Endoscopic evaluation revealed a large fungating mass in the middle third of the esophagus. Initial biopsy showed a high-grade malignant neoplasm, but immunohistochemistry (IHC) was inconclusive. Further imaging confirmed a primary esophageal tumor with regional lymph node involvement. The patient underwent neoadjuvant therapy followed by surgical resection. Post-treatment pathology confirmed SpCC with nodal metastasis. SpCC pathogenesis remains unclear, but high Programmed death-ligand 1 (PD-L1) expression at the tumor invasive front, along with epithelial-mesenchymal transition (EMT) markers ZEB1 and TWIST, suggests a role in tumor progression. Molecular studies indicate frequent TP53 mutations, receptor tyrosine kinase alterations, and PI3K pathway mutations. While surgical resection remains the primary treatment, emerging evidence supports the role of PD-L1 inhibitors and targeted therapies. Despite its aggressive histology, SpCC has a relatively favorable prognosis when diagnosed early, with a five-year survival rate of approximately 60%. Further research is needed to optimize treatment strategies for this rare malignancy.</p>","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":"18 ","pages":"20363613261478718"},"PeriodicalIF":1.2,"publicationDate":"2026-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13494282/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148799244","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 carcinoid harboring a <i>KRAS</i> G12C mutation identified through comprehensive genomic profiling and responding to sotorasib: A case report.","authors":"Kosuke Hamai, Masaaki Abe, Shinya Miyake, Ryo Katsura, Nana Kozuki, Akinori Shimizu, Masahiro Nakahara, Keiji Hanada, Shuji Yonehara, Takao Hinoi","doi":"10.1177/20363613261481747","DOIUrl":"10.1177/20363613261481747","url":null,"abstract":"<p><p>Pulmonary carcinoids are the pulmonary counterparts of gastrointestinal neuroendocrine tumors (NETs) G1-2. They may cause distant metastasis, leading to a poor prognosis, and requiring chemotherapy. Reports on cases harboring driver gene mutations remain limited. A man in his late 60s visited to JA Onomichi General Hospital because he was suspected of lung cancer. Positron emission tomography/computed tomography (PET/CT) showed a 24-mm nodule in the right upper lobe with abnormal ^18F-fluorodeoxyglucose uptake, and bronchoscopic examination revealed adenocarcinoma. Surgery was planned for stage IA3 lung adenocarcinoma; however, intraoperative findings demonstrated pleural dissemination, and the procedure was terminated as an exploratory thoracotomy. Pathological examination of tissue obtained from the pleural dissemination showed features consistent with NET G2, confirming a diagnosis of atypical carcinoid. Ten months after treatment with carboplatin plus etoposide, salvage surgery consisting of right upper lobectomy and resection of pleural dissemination was performed. Histopathological examination revealed a papillary adenocarcinoma adjacent to a NET G2. Three months after surgery, CT revealed a metastatic lesion in the retrohepatic segment. Histological examination of the liver tumor obtained via laparoscopic hepatectomy confirmed a NET G2 without adenocarcinomatous components. Four months after hepatectomy, PET/CT demonstrated multiple lymph node metastases. The patient was treated sequentially with carboplatin plus etoposide, everolimus, and amrubicin, however, the liver metastases progressed. A liver tumor biopsy was performed for comprehensive genomic profiling (CGP). The biopsy specimen revealed metastatic NET G2. FoundationOne CDx testing identified <i>KRAS</i> G12C mutation, and treatment with sotorasib was initiated. One year has passed since the initiation of sotorasib with no serious adverse events. The liver metastases have regressed, and tumor marker levels have decreased. Sotorasib is effective for treating <i>KRAS</i> G12C-positive pulmonary carcinoids. Because pulmonary NETs rarely harbor driver mutations, CGP testing may be considered.</p>","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":"18 ","pages":"20363613261481747"},"PeriodicalIF":1.2,"publicationDate":"2026-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13494277/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148799330","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":"Prognostic significance of systemic inflammatory indices in squamous cell carcinoma of the anal canal: A retrospective cohort study.","authors":"Yazid Abualkebash, Fuad Farajalla, Bilal Awad, Iraida Caballero","doi":"10.1177/20363613261480509","DOIUrl":"10.1177/20363613261480509","url":null,"abstract":"<p><strong>Background: </strong>Squamous cell carcinoma of the anal canal is a rare gastrointestinal malignancy with heterogeneous outcomes despite standardized chemoradiotherapy. Systemic inflammation has been implicated in tumor progression, and hematological indices such as the neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), and systemic immune-inflammation score (SII) have emerged as potential prognostic markers. This study aimed to assess the prognostic significance of pre-treatment inflammatory indices (NLR, PLR, SII) for disease-free survival (DFS) and overall survival (OS).</p><p><strong>Methods: </strong>This retrospective cohort study included 243 adult patients treated between 2006 and 2023 with combined chemoradiotherapy (5-fluorouracil and mitomycin C). Inflammatory indices were calculated from baseline laboratory values. Optimal cut-offs were determined using ROC analysis. Survival was evaluated using Kaplan-Meier curves and log-rank tests. Independent prognostic factors were identified through multivariate Cox regression.</p><p><strong>Results: </strong>Elevated indices were frequent (NLR ≥4: 56.8%; PLR ≥250: 47.7%; SII ≥980: 52.3%). Higher NLR, PLR, and SII were significantly associated with reduced DFS and OS (p < 0.05). In multivariate analysis, lymph node involvement (HR 1.94; p = 0.003), SII ≥980 (HR 2.01; p = 0.013), and absence of complete response (HR 5.67; p < 0.001) independently predicted poorer DFS. For OS, ECOG ≥1 (HR 2.70; p = 0.005), lymph node involvement (HR 3.45; p = 0.001), absence of complete response (HR 4.21; p < 0.001), NLR ≥4 (HR 2.47; p = 0.049), and PLR ≥250 (HR 3.28; p = 0.006) were independent predictors.</p><p><strong>Conclusion: </strong>Pre-treatment inflammatory indices provide significant prognostic information in squamous cell carcinoma of the anal canal and may enhance baseline risk stratification alongside established clinical factors.</p>","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":"18 ","pages":"20363613261480509"},"PeriodicalIF":1.2,"publicationDate":"2026-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13477529/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148765203","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":"Primary hepatic leiomyosarcoma diagnosed after right hepatectomy: A rare case report.","authors":"Toshikatsu Nitta, Masatsugu Ishii, Ryutaro Kubo, Akitada Sada, Atsuhiro Komiya, Atsushi Takeshita, Takashi Ishibashi","doi":"10.1177/20363613261478733","DOIUrl":"10.1177/20363613261478733","url":null,"abstract":"<p><p>This is a case report of primary hepatic leiomyosarcoma. An 82-year-old Japanese man presented with fever and mild abdominal pain. Laboratory testing demonstrated marked inflammation and substantial elevations of CA19-9 and PIVKA-II. Computed tomography revealed a large necrotic mass in the right hepatic lobe with gallbladder wall thickening. Gallbladder cancer invading the liver with abscess formation was suspected, but a definitive preoperative diagnosis could not be established. Right hepatectomy and cholecystectomy achieved an R0 resection. Histopathological examination showed fascicles of spindle cells, extensive necrosis, and high mitotic activity. Immunohistochemical staining was positive for α-smooth muscle actin and h-caldesmon and negative for desmin and epithelial markers, confirming primary hepatic leiomyosarcoma. Although abscess-like presentations have been reported, the combination of severe inflammatory findings, markedly elevated CA19-9 and PIVKA-II, and gallbladder wall thickening was unusual and contributed to diagnostic confusion. This case emphasizes the need to consider primary hepatic leiomyosarcoma in the differential diagnosis of a large necrotic hepatic mass and supports complete surgical resection when technically feasible.</p>","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":"18 ","pages":"20363613261478733"},"PeriodicalIF":1.2,"publicationDate":"2026-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13477532/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148765351","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":"Chondromyxoid fibroma in a 24-year-old female: A case report highlighting its rarity, diagnostic challenges, and importance of surgical management.","authors":"Jackson Kakooza, Cornerious Ssekiwala, Jama Saleban Mohamed, Musafiri Simba Lionel, Joseph Ssebamala, Arthur Serumaga, Samuel Oledo, John Dalton Masumba, Sam Kalungi, Shaban Abdullah, Catherine R Lewis","doi":"10.1177/20363613261475673","DOIUrl":"https://doi.org/10.1177/20363613261475673","url":null,"abstract":"<p><p>Chondromyxoid fibroma (CMF) is an uncommon benign bone tumor, involving less than 1% of all bone neoplasms and is slightly more predominant in males. This case report describes a 24-year-old female patient who presented with a painless, progressively enlarging swelling on the left upper leg for six years. Radiographic imaging revealed a lytic lesion with a soap bubble appearance, well-defined margins, and endosteal scalloping in the proximal tibia. Histological analysis confirmed CMF, characterized by chondromyxoid lobules with fibroblastic proliferation and no evidence of malignancy. Surgical excision of the 6 x 8 cm tumor, involving the fibula and tibia, was performed without complications. This case highlights the rarity of CMF in females, its diagnostic challenges, and the efficacy of surgical management, emphasizing clinical, radiographic, and histopathological features.</p>","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":"18 ","pages":"20363613261475673"},"PeriodicalIF":1.2,"publicationDate":"2026-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13473768/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148766394","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":"Vulvar Leiomyoma in a young woman: A case report of a rare benign soft tissue tumor from Woldia, Ethiopia.","authors":"Getachew Tesfaw Walle, Moges Beriye Rede, Simachew Asress Mekonen, Mengesha Alemu Seid","doi":"10.1177/20363613261468703","DOIUrl":"10.1177/20363613261468703","url":null,"abstract":"<p><p>Vulvar Leiomyoma is an extremely rare benign tumor of smooth muscle origin, accounting for a small fraction of Vulvar neoplasms. It often mimics Bartholin's cyst or other soft tissue masses, posing diagnostic challenges. We present a case of a 19-year-old unmarried woman with a Vulvar mass. Histopathological examination confirmed the diagnosis of Vulvar Leiomyoma with no evidence of malignancy. Vulvar leiomyoma's should be considered in the differential diagnosis of Vulvar masses. Accurate diagnosis requires histopathological analysis. Complete surgical excision is the treatment of choice. This case report is presented in accordance with the CARE guidelines.</p>","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":"18 ","pages":"20363613261468703"},"PeriodicalIF":1.2,"publicationDate":"2026-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13354922/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148425393","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 case of respiratory epithelial adenomatoid hamartoma in a patient suffering from non-steroidal anti-inflammatory drug - exacerbated respiratory disease.","authors":"Aleksandar Perić, Ljiljana Jovančević, Jelena Sotirović, Biserka Vukomanović Đurđević","doi":"10.1177/20363613261466812","DOIUrl":"10.1177/20363613261466812","url":null,"abstract":"<p><p>Respiratory epithelial adenomatoid hamartoma (REAH) is a rare lesion located mostly in the anterior and upper parts of the nasal cavity, caused by pseudo-glandular proliferation of the respiratory epithelium, enriched with goblet cells. The stroma is characterized by a dense infiltrate composed mainly of mast cells. Previous studies have indicated a strong association between REAH located in the olfactory area and allergic rhinitis. We present the case of a 48-year-old man with a history of NSAID-exacerbated respiratory disease (N-ERD) who underwent surgical removal of a lobed, cerebriform, yellowish-pink mass from the right olfactory region. Also, bilateral inflammatory nasal polyps were removed. We discuss the still-unclear etiopathogenesis of REAH, the challenges of diagnosing this rare lesion, and the role of N-ERD in the development and growth of this condition. We propose that REAH can be understood as a rare tumor lesion, formed based on local developmental anomalies, the growth of which requires stimulation by inflammatory mediators. Although there is a high degree of association between REAH and allergic rhinitis, this case indicates that this lesion can also occur in patients with N-ERD.</p>","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":"18 ","pages":"20363613261466812"},"PeriodicalIF":1.2,"publicationDate":"2026-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13342372/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148413292","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":"T-cell lymphoma of the breast and ovary presenting as a second malignant neoplasm in a pediatric leukemia survivor: A case report and literature review.","authors":"Oscar Alvarez-Palacios, Luis Ojeda-Campos, Alfredo Rodríguez, Gabriel Ernesto Díaz-Juarez, José Manuel Figueroa-Torres, Rocío Juárez-Velázquez, Ulises Juárez-Figueroa, Jorge Johans Gallardo-Navarro, Luis Fabian Segundo-Galvez, Azucena Ocampo-Bárcenas","doi":"10.1177/20363613261443114","DOIUrl":"10.1177/20363613261443114","url":null,"abstract":"<p><p>Second malignant neoplasms (SMNs) are rare but serious late effects in childhood acute lymphoblastic leukemia (ALL) survivors. Mature peripheral T-cell lymphomas involving both the breast and ovary are exceedingly rare, and their relationship with germline predisposition variants remains poorly understood. We report a 17-year-old female, previously treated for high-risk B-cell ALL and in sustained remission, who developed bilateral breast and ovarian masses in 2024. Histopathology and immunohistochemistry confirmed a mature T-cell lymphoma (CD7⁺, CD99⁺, weak CD5/CD3, Ki-67 >90%, TdT^-). Whole-exome sequencing revealed a germline pathogenic <i>BRCA2</i> variant (c.1910-2A>T) along with additional likely pathogenic variants (<i>CUX1</i>, <i>MED12L</i>, <i>POLR3B</i>, <i>PIK3CA</i>). The disease progressed rapidly despite CHOP chemotherapy, and the patient died shortly after diagnosis. This report describes an exceptionally rare SMN of peripheral T-cell lymphoma with breast and ovarian involvement in a pediatric leukemia survivor. The coexistence of a germline <i>BRCA2</i> mutation and additional genomic alterations suggests a multigenic predisposition hypothesis. Early incorporation of next-generation sequencing may uncover molecular vulnerabilities and inform alternative therapeutic strategies in refractory hematologic malignancies.</p>","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":"18 ","pages":"20363613261443114"},"PeriodicalIF":1.2,"publicationDate":"2026-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13342380/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148413305","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}