SS18 (SS18 Subunit Of BAF Chromatin Remodeling Complex)

Furthermore, 18F-FDG PET/CT proved valuable not only for diagnostic assessment but also for therapeutic monitoring. In summary, repeated targeted biopsy and multimodality imaging are essential for accurate diagnosis and management of this rare cardiac malignancy.

These findings led to the diagnosis of primary renal adenosarcoma. This case highlights the diagnostic challenge of distinguishing this rare tumor from more common renal malignancies and underscores the importance of imaging-pathologic correlation.

Our work reveals new therapeutic vulnerabilities in synovial sarcoma and suggests broader relevance for targeting coactivator-dependent transcription in fusion-driven cancers. BAF degradation does not alter SS18::SSX-activated transcriptional programsDirect SS18::SSX transcriptional activation is independent of BAF interactionThe SS18 C-terminus engages the co-activator EP300 to promote gene expressionSmall molecule degraders of EP300/CREBBP abolish SS18::SSX-mediated transcription.

The treatment of SS differs according to age. The use of perioperative chemotherapy followed by surgery and then radiotherapy is more common in pediatrics and may improve the prognosis and reduce the risk of recurrence and metastasis.

Postoperatively, the patient received adjuvant chemotherapy with the AIM (doxorubicin, ifosfamide, and mesna) regimen. Given the extreme rarity of PRSS, we discuss the diagnostic challenges, molecular characteristics, and treatment approach adopted at our institution, contributing to the limited but growing body of knowledge on this rare entity.

Four patients remained alive and well at 18 months postoperatively while 3 patients were lost to follow-up. The current cases represent a previously undescribed variant of spindle cell thymoma that may pose diagnostic challenges and give rise to a wide differential diagnosis.

Some previously reported MSAd cases displayed subtle variations in their histopathological and immunohistochemical characteristics, underscoring the importance of molecular fusion confirmation. Given its typically indolent behavior, MSAd patients can be managed similarly to those with other low-grade salivary gland carcinomas.

Genomics-guided therapy in sarcoma is feasible and impactful. Expanding timely access to molecular profiling is essential for advancing precision oncology in the MENA region.

The chemotherapy regimen of ifosfamide, mesna and doxorubicin proved effective for this condition, leading to a significant reduction in tumour size and metabolic activity. However, due to disease recurrence and the presence of a KDM5A-positive marker, second-line therapy with trabectedin and pazopanib became necessary.

Resection subsequently revealed a biphasic morphology, and molecular testing confirmed the presence of an SS18::SSX fusion, confirming the diagnosis of synovial sarcoma. This case highlights a potential diagnostic pitfall in dermatopathology and stresses the importance of confirmatory molecular testing in cases where both sarcoma and carcinoma are included in the differential diagnosis.

The patient underwent wide surgical excision with negative margins and recovered uneventfully. This case emphasizes the importance of maintaining synovial sarcoma in the differential diagnosis of deep thigh masses in older adults, where imaging and molecular confirmation are essential to avoid misdiagnosis and treatment delay.