Case Reports in Oncology最新文献

[This retracts the article DOI: 10.1159/000546362.].

Background: Small cell breast carcinoma (SCBC) is a rare, aggressive neuroendocrine breast cancer subtype comprising less than 1% of all breast malignancies. With no standardized treatment guidelines, management is typically extrapolated from small cell lung cancer (SCLC) or triple-negative breast cancer (TNBC) protocols. Immune checkpoint inhibitors (ICIs) have shown promise in both TNBC and SCLC, but their role in SCBC remains undefined.

Case presentation: We report the case of a 65-year-old woman diagnosed with early-stage, triple-negative SCBC, exhibiting high-grade features and a Ki-67 index >90%. She received neoadjuvant cisplatin and etoposide with pembrolizumab, followed by breast-conserving surgery and adjuvant pembrolizumab. Histopathology demonstrated a complete pathological response. The patient tolerated treatment well and remains disease-free on follow-up.

Conclusion: This is the first reported case of SCBC successfully treated with neoadjuvant chemoimmunotherapy, achieving complete pathological remission. It highlights the potential role of ICIs in SCBC and supports future research into biomarker-driven strategies for this rare and aggressive.

Introduction: Gastric-type endocervical adenocarcinoma (GTEC) is an uncommon and aggressive variant of endocervical adenocarcinoma, notable for its lack of association with human papillomavirus (HPV). It often presents late in its clinical course, leading to diagnostic challenges as it may mimic other gynecologic malignancies.

Case presentation: This case report details the clinical course of a 63-year-old female patient who presented with a 2-month history of lower abdominal pain, abdominal distention, constipation, and postcoital bleeding. These symptoms are atypical for GTEC, in which patients typically experience a mucus-like or watery vaginal discharge. A comprehensive diagnostic workup revealed elevated serum levels of cancer antigen (CA) 125 and CA 19-9. Cervical and vaginal biopsies subsequently confirmed a diagnosis of moderately differentiated adenocarcinoma, supported by immunohistochemical analysis that demonstrated strong positivity for CK7, CEA31, HIK1083, and HNF1-β, while showing negativity for p16, estrogen receptor, and p53. Despite her relatively short symptomatic clinical course, the patient exhibited signs of advanced disease, characterized by peritoneal carcinomatosis, vaginal involvement, and obstructive uropathy from pelvic mass effect.

Conclusion: This patient's atypical clinical presentation illustrates that GTEC may mimic ovarian-like tumors, resulting in misclassification and diagnostic delay and further underscoring the challenge that HPV-independent tumors such as GTEC pose to current screening strategies and diagnostic frameworks.

Introduction: Natural killer/T-cell (NK/T) lymphomas are very rare with poor prognosis. These cancers are more prevalent in Asian and South American populations, are often Epstein-Barr virus positive, and usually involve the nasal cavity or paranasal sinuses. NK/T lymphomas originating from the orbit is an extremely rare occurrence.

Case presentation: Here we report the clinical, radiological, and histopathologic features of an 18-year-old male who presented with a painful right orbital mass associated with ipsilateral headache and complete vision loss in the affected eye, that was histologically diagnosed as an NK/T lymphoma. Despite a favorable response to gemcitabine, dexamethasone, and cisplatin treatment, the patient died as a result of treatment-induced complications. We present the clinical and radiologic parameters, the histological and molecular characterization of the tumor, including treatment and outcome.

Conclusion: This case underscores the importance of promptly characterizing atypical orbital masses, maintaining a high index of suspicion for NK/T lymphoma in the differential diagnosis even for young patients, the need for safer targeted treatments especially in resource-limited settings, and the need for close monitoring of side effects during treatment.

Introduction: Primary cardiac intimal sarcoma (CIS) is a rare and highly malignant soft tissue tumor associated with an extremely poor prognosis. To date, there are no established treatment guidelines for CIS in clinical practice.

Case presentation: A 44-year-old man was diagnosed with left atrial intimal sarcoma. Forty-two days after radical surgical resection, he developed local recurrence accompanied by brain and gluteus medius metastases. The patient first received emergency radiotherapy for intracranial metastases, followed by six cycles of systemic chemotherapy with ifosfamide and epirubicin, combined with targeted therapy using anlotinib. Ultimately, he achieved an overall survival (OS) of 17 months.

Conclusion: To our knowledge, this is the first report describing the therapeutic efficacy of anlotinib in CIS. This case highlights the potential role of anlotinib as a promising therapeutic option for this rare and aggressive malignancy.

Introduction: Orbital retinoblastoma (RB) is a form of advanced-stage RB and typically carries poor prognosis, with mortality rates ranging from 25% to 100% [Br J Ophthalmol. 1990;74(2):97-8]. While new multimodal treatment protocols have been proposed, there remains a paucity of reported successful treatment outcomes before standard treatment protocols can be established. In many developing nations, orbital RB is frequently palliated due to presumed poor treatment outcomes.

Case presentation: We highlight a case of a 6-year-old child who presented with a unilateral fungating orbital RB without regional or systemic spread. After 4 cycles of neoadjuvant chemotherapy, there was complete clinical regression of the tumour to within the globe. Following an ocular enucleation with histopathologic control, he underwent placement of a primary orbital implant followed by adjuvant proton beam therapy (PBT) to the orbit and remains well till this day.

Conclusion: This case underscores the importance of multimodal combination therapy in improving survival outcomes, highlighting the promising impact of neoadjuvant systemic chemotherapy in reducing tumour burden even in advanced RB. It also draws attention to the use of PBT as a superior alternative to conventional external beam radiotherapy, due to its ability to reduce dose splash to surrounding organs, reducing the chance of secondary malignancies [Indian J Ophthalmol. 2024;72(6):778-88]. Above all, this case challenges the historical prognosis of orbital RB, demonstrating that with a tailored and comprehensive approach, even children with advanced disease can attain disease-free survival. It serves as a call to action for the clinical community to continue pursuing evidence-based treatment protocols that can transform advanced RB care.

Background: Rhabdomyosarcoma (RMS) is the most common soft-tissue sarcoma in children and adolescents, but primary RMS of the breast is exceptionally rare and diagnostically challenging. Imaging findings are nonspecific and can mimic benign adolescent lesions (e.g., fibroadenoma), making timely histopathologic confirmation crucial. Immunohistochemistry for muscle markers - particularly desmin and myogenin - supports definitive diagnosis of embryonal RMS (ERMS).

Case presentation and case discussion: A 14-year-old Arab female presented with a rapidly enlarging left-breast mass and ipsilateral axillary lymphadenopathy. Core biopsy showed small round blue cells with rhabdomyoblastic differentiation; tumor cells were desmin- and myogenin-positive, consistent with ERMS. She received 6 cycles of mesna-doxorubicin-ifosfamide-dacarbazine (MAID) chemotherapy, followed by local recurrence; one cycle of ifosfamide-carboplatin-etoposide (ICE) achieved an approximately 50% partial response but was complicated by cystitis and rapid radiologic progression. After three cycles of vincristine-dactinomycin-cyclophosphamide (VAC), she underwent total mastectomy with lymph-node dissection. Restaging fluorodeoxyglucose positron emission tomography/computed tomography demonstrated local recurrence and nodal metastases (bilateral axillary, subpectoral, and internal mammary) with pulmonary nodules. Despite multimodal therapy, the disease remained refractory and the patient ultimately died from complications of metastatic disease. This case highlights the aggressive biology of primary breast ERMS in adolescents and the risk of early recurrence and dissemination despite intensive therapy. While standard management of RMS is multimodal - systemic chemotherapy with surgical resection and/or radiotherapy - responses can be transient, and treatment interruptions (e.g., toxicity-related delays) may jeopardize disease control. The diagnostic value of myogenin (highly specific for rhabdomyoblastic differentiation) and Desmin was pivotal here, while the clinical course underscores the limitations of currently available regimens (MAID, ICE, VAC) for refractory disease at this uncommon site.

Conclusion: This case illustrates the need for early biopsy of rapidly enlarging breast masses in adolescents, the central diagnostic role of muscle-specific immunohistochemical markers, and the importance of uninterrupted multimodal therapy in primary breast ERMS. It also underscores the limitations of currently available regimens in refractory disease and highlights the need for collaborative, guideline-based management, and clinical-trial enrollment when feasible.

Introduction: Soft tissue sarcomas (STS) represent a heterogenous group of mesenchymal neoplasms that frequently arise in the extremities. In cases of disease recurrence, the lungs are the most commonly affected site. We report a rare case of a previously treated lower extremity STS with subsequent delayed recurrence in the anterior mediastinum, an uncommon site for distant metastasis.

Case presentation: Our patient was a 64-year-old woman with a history of a left medial thigh pleomorphic/spindle cell sarcoma previously treated with wide local excision and adjuvant radiation therapy in 2013. She presented in 2025 with a 2-month history of nonproductive cough and 1 day of left lower extremity swelling. CT chest revealed an 18.7 cm heterogeneous anterior mediastinal mass, and tissue sampling was consistent with recurrence of an undifferentiated pleomorphic sarcoma with spindle cell features. She subsequently underwent surgical resection of the mediastinal mass. Due to positive margins, adjuvant radiation therapy is currently being considered.

Conclusion: This case highlights an atypical pattern of late recurrence of spindle cell sarcoma to the mediastinum - an uncommon site for metastatic spread - occurring 12 years following initial treatment. It underscores the potential need to reevaluate current surveillance recommendations beyond the standard 5-year period. Furthermore, it emphasizes the importance of investigating possible alternative mechanisms underlying STS recurrence.

Introduction: Atezolizumab plus bevacizumab is widely recognized as the first-line treatment for advanced hepatocellular carcinoma (HCC). Bevacizumab, an anti-vascular endothelial growth factor (anti-VEGF), is effective against various cancers but carries a rare risk of gastrointestinal perforation. The exact mechanism remains unclear, but insufficient cessation before surgery is a significant factor. We report a case of gastric perforation after hepatectomy in a patient with HCC who had previously received atezolizumab-bevacizumab combination therapy. Despite discontinuation of bevacizumab for 5 weeks before surgery, the patient developed gastric perforation on postoperative day six.

Case presentation: A 62-year-old female with hepatitis B virus-related HCC and a history of liver wedge resection and cholecystectomy presented with elevated α-fetoprotein levels and imaging-confirmed recurrent HCC with tumor thrombosis. She underwent systemic therapy with atezolizumab and bevacizumab, achieving downstaging after six courses. Exploratory laparotomy with left liver lobectomy was performed. Postoperatively, the patient developed fever, elevated C-reactive protein, and turbid peri-hepatic drainage fluid. Gastric perforation was diagnosed after series examination. Emergent laparotomy with primary repair was performed and the patient recovered uneventfully.

Discussion: Bevacizumab-associated gastrointestinal perforation, with an incidence of 0.3-2.4%, is a rare but severe complication. Proposed mechanisms include prothrombotic effects causing vessel thrombosis, impaired wall healing due to VEGF inhibition, reduced blood flow to the intestinal wall, and tumor destruction leading to wall instability. Bevacizumab also hinders surgical repair healing.

Conclusions: This case highlights the importance of individualized perioperative management and careful timing of surgery following anti-VEGF therapy in HCC, emphasizing the role of multidisciplinary evaluation in the era of immunotherapy and targeted treatment.

Introduction: Tarlatamab is a bispecific T-cell engager (BiTE) targeting DLL3 and shows promising efficacy in relapsed small cell lung cancer (SCLC). Although flare reactions are recognized with immune checkpoint inhibitors, reports in patients receiving tarlatamab remain limited.

Case presentation: We describe the case of a 74-year-old woman with extensive-stage SCLC who developed acute radiological worsening within 4 days after initiating third-line tarlatamab therapy, followed by rapid improvement by day 8. Chest computed tomography performed 1 week prior to treatment and on day 1 revealed no significant changes in the right hilar mass size (56.5 mm vs. 54.0 mm) or the right lower lobe infiltrating shadow (82.5 mm vs. 82.0 mm). On day 4, the right hilar mass and lower lobe lesion increased to 68.0 mm and 74.1 mm, respectively, along with surrounding ground-glass opacity and pleural effusion. By day 8, these lesions had decreased to 56.3 mm and 73.8 mm, respectively, and were further reduced by day 15 to 54.1 mm and 73.3 mm, respectively, with complete resolution of pleural effusion. Cytokine release syndrome (grade 1-2) was noted with tarlatamab administration on days 1, 8, and 15. Based on the temporal association, imaging findings, and clinical course, the event was considered flare reaction rather than natural tumor progression.

Conclusion: Our findings suggest that flare reaction occurs within days of initiating tarlatamab, possibly attributable to acute immune activation, as reported in BiTE therapies. Awareness of this possibility may help avoid premature discontinuation of effective treatment.