Primary Uterine Alveolar Rhabdomyosarcoma: A Rare Entity.

Area of Science:

• Gynecologic Oncology
• Pathology
• Medical Imaging

Background:

• Primary uterine alveolar rhabdomyosarcoma is an extremely rare malignancy.
• Often a diagnosis of exclusion, it can present with non-specific symptoms, leading to diagnostic delays.

Purpose of the Study:

• To report a case of primary uterine alveolar rhabdomyosarcoma in an elderly woman with atypical presentation.
• To highlight the diagnostic challenges and the importance of specific molecular and immunohistochemical analyses.

Main Methods:

• Case presentation of an elderly woman with abdominal distention and weight loss.
• Imaging studies (ultrasound, CT) revealing a large uterine mass.
• Image-guided biopsy, surgical staging (total abdominal hysterectomy, bilateral salpingo-oophorectomy, pelvic lymphadenectomy), histopathology, immunohistochemistry, and fluorescence in situ hybridization (FISH) for FOXO1 gene translocation.

Main Results:

• Histopathological and immunohistochemical examination confirmed primary uterine rhabdomyosarcoma.
• FISH analysis identified the characteristic FOXO1 gene translocation, confirming the alveolar subtype.
• The patient presented with atypical symptoms (abdominal distention, weight loss) rather than typical gynecological symptoms.

Conclusions:

• Primary uterine alveolar rhabdomyosarcoma is exceptionally rare in adults, particularly with non-specific presenting symptoms.
• Immunohistochemistry and FOXO1 gene translocation studies are crucial for accurate diagnosis.
• Early and accurate diagnosis is essential for appropriate management, despite the rarity and challenging presentation.