Case Reports in Oncological Medicine最新文献

Gastrointestinal stromal tumors (GISTs) are rare mesenchymal neoplasms that predominantly originate in the gastrointestinal tract. Extra-gastrointestinal GISTs can occur in atypical locations such as the pelvis, which may mimic gynecologic malignancies, creating diagnostic challenges. This case report presents a 39-year-old female with a history of Type 1 diabetes mellitus and prior kidney and liver transplantation who presented with progressive abdominal bloating and discomfort. Initial pelvic ultrasound revealed a large right adnexal mass (18.8 × 12.8 × 9.8 cm), suggestive of an ovarian mass. CT imaging confirmed a complex pelvic tumor exerting mass effect on surrounding organs, initially concerning for gynecologic malignancy. Following an unrevealing endoscopic evaluation, the patient underwent exploratory laparotomy with total abdominal hysterectomy, bilateral salpingo-oophorectomy, and tumor debulking. Intraoperative findings included a large right pelvic mass with extensive adhesions, friable tumor implants, and mesenteric lymphadenopathy. Postoperative pathology confirmed a high-grade GIST with epithelioid features, positive for DOG1 and CD117, with a Ki-67 index exceeding 30%. Molecular testing identified a KIT Exon 9 mutation, leading to initiation of imatinib therapy. Overall, this case represents an extra-GI/pelvic GIST that mimicked a primary ovarian neoplasm. We achieved a complete macroscopic cytoreduction (no gross residual disease) but explicitly note pT4 (due to intraoperative rupture), informing adjuvant KIT inhibition. This case emphasizes the diagnostic challenge of extra-GI/pelvic GISTs mimicking ovarian tumors. Studies show that GISTs mimicking primary ovarian tumors (GIST-OTs) typically occur in younger women, have lower recurrence rates (6.8% vs. 54.5% in metastatic ovarian GISTs), and achieve complete resection more frequently (> 90% vs. 57% in metastatic cases). Immunohistochemical profiling (DOG1 and CD117) and molecular testing are crucial for accurate diagnosis and treatment planning. Although imatinib remains the cornerstone of GIST management, dose adjustments based on specific mutations may be necessary, as patients with KIT Exon 9 mutations might benefit from higher dosing. Multidisciplinary approaches combining imaging, histology, and molecular profiling are essential for optimizing outcomes in these complex cases. This extra-GI/pelvic GIST occurred under chronic posttransplant immunosuppression after renal and liver transplantation; as such, we highlight the transplant-oncology interface, notably, an elevated posttransplant cancer risk, rare but documented GIST after kidney transplant, and TKI-calcineurin-inhibitor interactions that require coordinated management.

Diffuse large B-cell lymphoma (DLBCL) is an aggressive malignancy and the most common subtype of non-Hodgkin lymphoma, typically presenting with lymphadenopathy. Pericardial involvement is extremely rare. We report the case of a patient who presented with cough and shortness of breath and was admitted for acute hypoxic respiratory failure. During hospitalization, the patient developed atrial fibrillation with rapid ventricular response (RVR). Transthoracic echocardiography revealed a pericardial effusion, which increased in size on repeat imaging 1 week later. The patient subsequently underwent pericardiocentesis, and cytology of the pericardial fluid confirmed DLBCL, with the pericardium identified as the primary site of involvement. The patient was treated with mini-R-CHOP chemotherapy, resulting in marked clinical improvement.

The endodermal sinus tumor (EST), also known as yolk sac tumor, accounts for 20% of germ cell tumor cases, typically occurring in gonadal locations. However, 1%-5% can present with an extragonadal localization. Primary hepatic EST is an extremely rare entity and poses a diagnostic challenge for the appropriate management of this pathology. We present the case of a 34-year-old woman who presented with a single hepatic mass associated with elevated alpha-fetoprotein (AFP) levels. Initially, hepatocellular carcinoma (HCC) was suspected, leading to a right hepatectomy, which resulted in pathology findings consistent with an EST. Following surgery, the patient underwent four courses of BEP chemotherapy, showing a partial response with residual lesions. The patient received two more courses of EP chemotherapy, with a PET CT showing a complete response. At over 5 years of follow-up, the patient remains clinically stable, with negative tumor markers, no evidence of disease, and leading a normal life. Primary hepatic EST is an infrequent but important differential diagnosis of HCC, particularly in young women without cirrhosis who present with markedly elevated AFP levels. Early biopsy confirmation and multidisciplinary management are essential, as this chemosensitive tumor may achieve long-term survival with timely systemic treatment.

Leiomyosarcoma (LMS) is a rare and aggressive soft tissue sarcoma known for its propensity for hematogenous dissemination, frequently involving the lungs and pleura. We present a case of metastatic pleuropulmonary LMS managed with a novel combined approach: robotic-assisted cytoreductive surgery and hyperthermic intrathoracic chemotherapy (HITHOC). A 61-year-old male with high-grade LMS developed progressive pleural and pulmonary metastases following prior systemic chemotherapy and palliative radiotherapy. Diagnostic imaging showed enlarging pleural nodules and diaphragmatic thickening, with PET-CT confirming intense hypermetabolic activity confined to the right hemithorax. A multistep robotic-assisted thoracic procedure was performed, including total pleurectomy, pulmonary segmentectomy, mediastinal lymphadenectomy, and HITHOC utilizing cisplatin at 42°C. The patient achieved an uncomplicated postoperative course and reported complete symptomatic relief of pre-existing pleuritic pain. At 6-months postprocedure, follow-up imaging confirmed isolated local recurrence (two subpleural nodules). However, no regional lymphadenopathy or distant progression was detected. The patient was transitioned to pazopanib therapy, which resulted in radiological stability and maintained symptomatic control through the 12-month postoperative follow-up period. This case demonstrates the feasibility, safety, and therapeutic value of robotic cytoreduction with HITHOC in selected metastatic LMS, achieving complete macroscopic resection and sustained 12-month disease control when integrated with targeted therapy.

Multiple primary malignancies (MPMs) are defined as the occurrence of two or more distinct malignant neoplasms in a single individual, arising either simultaneously or successively. With advancements in targeted therapies and improvements in overall survival, the observed incidence of MPMs has increased, likely reflecting both improvements in oncologic treatments and enhanced surveillance. We report the case of a 63-year-old man with synchronous pancreatic neuroendocrine tumor, anal melanoma, and papillary thyroid carcinoma. His prior oncologic history is notable for prostate adenocarcinoma treated with prostatectomy and renal cell carcinoma managed with right partial nephrectomy. Over a 1-year period, he underwent surgical resection of the neuroendocrine tumor, anal melanoma, and papillary thyroid carcinoma. He is currently receiving pembrolizumab for management of anal melanoma. Germline testing using Ambry's CustomNext Cancer panel was negative across 33 genes associated with hereditary cancer predisposition syndromes. Synchronous MPMs pose substantial challenges for clinical management, including complexities in treatment prioritization, sequencing, and integration of multimodal therapies. These challenges are compounded by limited evidence to guide concurrent or sequential multicancer regimens, with implications for efficacy, toxicity, and long-term outcomes. This case underscores the need for multidisciplinary coordination, individualized risk-benefit assessment, and prospective data to inform evidence-based strategies in the care of patients with MPMs.

Chronic lymphocytic leukemia (CLL) is a low-grade lymphoproliferative disorder characterized by clonal proliferation of lymphocytes. The disease is indolent but might be complicated with life-threatening cytopenias, high-grade transformation, or second primary malignancies (SPMs). The incidence of SPMs is higher in CLL compared to the normal population; however, the genetic association and predisposing factors linking CLL to SPMs remain unclear. Synchronous or metasynchronous CLL and lung cancer are relatively uncommon, and the relationship is rarely explored in the literature. We report two cases of a 77-year-old male and a 52-year-old female with a history of heavy smoking, both presenting with respiratory symptoms. Imaging revealed lung masses, hilar adenopathy, pleural effusions, and visceral metastasis. The first case's pleural fluid cytology was positive for both CLL and adenocarcinoma, while the second patient was diagnosed with a biopsy from the right supraclavicular mass revealing carcinoma. In both patients, a flow cytometry of the peripheral smear confirmed the diagnosis of CLL. Both patients had a similar outcome of death due to complicated intracerebral metastatic disease with intracranial hemorrhage and vasogenic edema within 1-2 months of diagnosis. Although incompletely understood, CLL and lung cancer share some predisposing social and biological factors, of which smoking is the most evident. It is also thought that the immunocompromised state of CLL patients is a risk factor for SPMs, given qualitative and quantitative defects in almost all immune cell lines. The cytogenetic association has been suggested but has yet to be comprehensively explored. The proposed tumor factors include HER-2/neu overexpression in lung cancer cells and Trisomy 12 in B-cell clones, which neither of our patients had. Despite suggested links, the relationship between CLL and lung cancer needs further exploration which might offer a future benefit for anticipation and earlier detection of lung cancer in CLL patients.

Background: Pyoderma gangrenosum (PG) is a rare, noninfectious, truly nongangrenous, autoinflammatory condition marked by neutrophilic dermatosis. It is characterized by the rapid onset of painful, full-thickness, ulcerative skin lesions with distinctive violaceous and undermined borders. PG is commonly associated with autoimmune and hematologic disorders, namely, inflammatory bowel disease (IBD) and monoclonal gammopathy of undetermined significance (MGUS). However, it has less commonly been reported in association with lymphoplasmacytic lymphoma (LPL) and rarely with its subtype, Waldenström macroglobulinemia (WM).

Case presentation: This case unfolds the story of a 72-year-old female patient with a complex medical and primarily cutaneous oncological history, who initially developed painful lesions on her shins suspected to be PG with a superimposed infection. During extensive infectious, rheumatologic, and oncologic workup revealing an IgM monoclonal gammopathy and antibiotic-resistant infections, her condition quickly deteriorated with altered mental status and eventual cardiopulmonary arrest 2 months after the initial PG diagnosis.

Conclusion: This case highlights the importance of close follow-up after PG identification for unusual underlying malignancies and suggests that even an indolent malignancy like WM can contribute to aggressive clinical decline in this setting.

Background: Brain metastases are the most common malignant intracranial tumors in adults. The management of patients with poor performance status and multiple brain metastases remains controversial, with guidelines generally recommending palliative care in such cases. Stereotactic radiosurgery has been debated for this group of patients, particularly those with multiple lesions.

Case presentation: We present a case of an Iranian patient with metastatic non-small cell lung cancer (NSCLC) who had previously undergone whole-brain irradiation (WBRT). The patient was referred due to the progression of multiple brain lesions. In response, we administered two separate courses of fractionated stereotactic radiation therapy (FSRT) to treat these brain masses. The patient's neurological symptoms showed significant improvement following the treatment.

Conclusions: This case suggests that stereotactic radiation therapy can be considered for patients with poor performance status, regardless of the number of brain metastases. It may stabilize or improve neurological deficits and enhance the patient's quality of life, even if its effect on overall survival is uncertain. Additionally, treating the lesions in two separate courses may reduce treatment time and facilitate better repair of normal brain tissue.

Thymic lymphoepithelial carcinomas (TLECs) are a rare primary thymic cancer best described by lymphoplasmacytic infiltration of the thymic stroma. Though only accounting for 1.3%-6% of thymic carcinomas, the distribution of TLECs is bimodal, peaking around ages 14 and 48 and affecting males to females in a 2:1 ratio. Due to their rarity and aggressive nature, they often present at later stages and can be primarily treated with a combination of chemotherapy and radiation. While several paraneoplastic syndromes have been reported with TLECs, cytokine release syndrome (CRS) has been observed in several cases. This particular case illustrates a metastatic TLEC patient that was treated with chemotherapy and complicated by CRS.

Brentuximab vedotin (BV) with chemotherapy is a novel and an effective treatment for Hodgkin Lymphoma (HL) but is associated with increased rates of peripheral neuropathy and neutropenia. Since its increased use, novel adverse effects of the regimen have come to light, including unexpected toxicities. We report a case of BV-chemotherapy-induced cardiotoxicity, highlighting the need for vigilant monitoring and further research into the risk factors, mechanisms, and long-term safety profile of this therapy.