Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder caused by mutations in the NF1 gene, including exon deletions, which are associated with various phenotypes and plexiform neurofibromas. Plexiform neurofibromas are clinically observed in up to 30% (and up to 50% on MRI) of NF1 patients and may involve both external and internal tissues, with a risk of malignant transformation to malignant peripheral nerve sheath tumors (MPNST). This report presents a rare case of a large plexiform neurofibroma in an adolescent male with NF1, involving the hepatic hilum and surrounding hepatic vessels. The patient, born in 2002, presented with multiple café-au-lait macules, cutaneous neurofibromas, axillary freckling, and headaches. Imaging studies, including 3-Tesla MRI and multislice CT, revealed a multinodular lesion extending along the hepatic vessels, around the gallbladder, the celiac trunk, and adjacent pancreatic and duodenal structures. Genetic testing confirmed a large deletion of an exon in the NF1 gene. Due to the lesion’s inoperable location and risk of vascular and biliary compression, targeted therapy with the MEK inhibitor selumetinib was indicated. The patient is currently awaiting provision of the medication. This case underscores the importance of careful monitoring and early initiation of targeted therapy in NF1 patients with extensive plexiform neurofibromas, particularly those caused by large NF1 gene deletions, which result in complete loss of neurofibromin and extensive infiltrative benign tumor growth.
Breast cancer remains the most prevalent malignant neoplasm among women and is one of the leading causes of cancer-related mortality. Surgical interventions (particularly mastectomy), chemotherapy, and radiotherapy are frequently associated with substantial psychological distress and deterioration in social functioning and overall quality of life. The present study aimed to examine changes in quality of life among women undergoing treatment for breast diseases across different stages of treatment and rehabilitation, as well as to assess changes associated with psychotherapeutic interventions combining individual and group psychological counseling with art therapy and body-oriented psychotherapy techniques. The study included 60 female patients who completed the WHOQOL-BREF questionnaire at three time points: prior to treatment, after treatment, and during the rehabilitation phase. Statistical analysis revealed significant improvements in microsocial support (p = 0.010) and social well-being (p = 0.010) during the rehabilitation period, while physical and psychological wellbeing remained stable. The impact of disease stage on quality-of-life outcomes was also investigated. The results indicated that disease stage was negatively associated with self-perception (ρ = −0.300, p = 0.024), microsocial support (ρ = −0.372, p = 0.004), and social wellbeing (ρ = −0.268, p = 0.044). These findings suggest that psychological therapy, delivered through individual and group formats and incorporating art therapy and body-oriented psychotherapy, may be associated with improvements in psychological resilience and social adaptation, particularly in women undergoing treatment for breast diseases.
BACKGROUND:Patterns of progression under immuno-oncology regimens in metastatic renal cell carcinoma (mRCC) remain poorly described. This study characterizes site-specific disease progression in patients receiving first-line dual immunotherapy or immunotargeted therapy. METHODS:This retrospective, observational cohort study included patients with clear-cell metastatic renal cell carcinoma treated between 2018 and 2024 with standard-dose regimens of nivolumab-ipilimumab (IO-IO) or pembrolizumab-axitinib and avelumab-axitinib combinations (IO-axitinib). The primary endpoint was the occurrence of new metastatic lesions at progression. Secondary endpoints included progression by >20% increase in target lesion size. RESULTS:Of 334 patients identified, 233 were evaluable for analysis. Radiographic progression occurred in 86.3% of IO-IO and 60% of IO-axitinib. Development of new metastatic lesions was more frequent with Nivo-Ipi (39.3% vs. 22.2%), most commonly involving the lungs and bones. In contrast, IO-axitinib combinations showed a greater propensity for progression through enlargement of pre-existing lesions (77.8% vs. 60.7%), accompanied by the emergence of new adrenal gland metastases. Across both treatment groups, lymph nodes emerged as the most frequent new site of disease progression. CONCLUSIONS:Nivo-Ipi was associated with more frequent development of new metastatic lesions, particularly in the lungs, bones, and lymph nodes, while axitinib-based combinations more often resulted in regrowth of existing disease with higher rates of adrenal involvement.
Endometrial cancer is the most common gynecological malignancy among women, and its incidence has increased considerably over recent decades. Surgical treatment, chemotherapy, radiotherapy, and hormone therapy are frequently associated with psychological distress, impaired social functioning, and reduced quality of life. The present study aimed to examine changes in quality of life among women with endometrial cancer across different stages of treatment and rehabilitation, as well as to assess changes associated with a psychotherapeutic intervention combining individual and group psychological counseling with art therapy and body-oriented psychotherapy techniques. The study included 40 women diagnosed with endometrial cancer who completed the WHOQOL-BREF questionnaire at three time points: before treatment, after completion of the main treatment, and during the rehabilitation period. Treatment-related factors, including the type of surgery (laparoscopic total hysterectomy, radical hysterectomy, or no surgery), chemotherapy, radiotherapy, and hormone therapy, were also evaluated. Statistical analysis demonstrated significant improvements in self-perception (p < 0.001) and social wellbeing (p = 0.002) during the rehabilitation period compared with the intermediate stage of treatment, while physical and psychological wellbeing remained relatively stable. Patients who did not receive adjuvant chemotherapy showed significantly better quality-of-life outcomes during the intermediate stage, whereas these differences largely diminished over time. During rehabilitation, women who underwent laparoscopic total hysterectomy demonstrated higher levels of self-perception and microsocial support, while the absence of hormone therapy was associated with better self-perception and social wellbeing. These findings demonstrate changes in quality-of-life indicators across the treatment and rehabilitation trajectory in women with endometrial cancer. Improvements in self-perception and social functioning were observed during rehabilitation; however, because the study did not include a control group, these changes cannot be attributed specifically to the psychotherapeutic intervention. Natural recovery, adaptation to the disease, completion of active treatment, and treatment-related factors may also have contributed to the observed dynamics. The results support the need for larger controlled studies of integrative psycho-oncological rehabilitation programs. Because subgroup sizes were small and multiple exploratory comparisons were performed, treatment-related findings should be interpreted as preliminary.
