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    Rare tumors

    Rare tumors

    JournalISSN 2036-3603eISSN 2036-3613中科院 医学 4区

    年发文量

    研究主题

    论文(715)

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    1Bilateral Breast Metastatic Rectal Cancer with MET Gene Amplification: A Rare Case Report
    Dung Thi Nguyen, Thanh Huy Nguyen, Ha Thu Le, Hien Thu Truong

    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.

    2026
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    2Urine 5-HIAA and Quality of Life in Neuroendocrine Neoplasia. is There an Association?
    Rayhan Chaudhry, Benjamin E White,Kandiah Chandrakumaran, Royce P Vincent,Dominique Clement, Wiaam Al-Hasani,Debra Gray, Jordan Randell,Rajaventhan Srirajaskanthan,John Ramage

    Background To determine whether urine 5-HIAA (u5HIAA) concentrations correlate with health-related quality of life (HRQL) in patients with neuroendocrine neoplasms (NEN). Methods 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. Results 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). Conclusion 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.

    2026
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    3Prognostic Significance of Systemic Inflammatory Indices in Squamous Cell Carcinoma of the Anal Canal: A Retrospective Cohort Study
    Yazid Abualkebash, Fuad Farajalla, Bilal Awad, Iraida Caballero

    Background 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). Methods 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. Results 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. Conclusion 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.

    2026
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    4Primary Hepatic Leiomyosarcoma Diagnosed after Right Hepatectomy: A Rare Case Report
    Toshikatsu Nitta,Masatsugu Ishii, Ryutaro Kubo, Akitada Sada, Atsuhiro Komiya,Atsushi Takeshita,Takashi Ishibashi

    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.

    2026
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    5Chondromyxoid Fibroma in a 24-Year-old Female: A Case Report Highlighting Its Rarity, Diagnostic Challenges, and Importance of Surgical Management
    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

    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.

    2026
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    Robert C. Miller19614
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    Maliha Khan1501
    Manlio Mencoboni1251
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    Robin L. Jones11715
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    高产作者

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    Robin L. Jones11715
    Robert C. Miller19614
    Bita Geramizadeh7110
    Khin Thway418
    Juliette Thariat1078
    Alowami Salem908
    Maurice Efana Asuquo16
    Ugbem Theophilus I E16
    Mahmut Ozsahin1006
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