1.A Case of STUMP With Lung Metastases and the ATRX Gene as a Prognostic Factor
Sayumi KOMATSU ; Seiichi ENDO ; Mayu AKITA ; Yoko TAKETANI ; Tatsuya MATSUOKA ; Maiko ICHIKAWA ; Masae SAKAMOTO ; Koji SHIMABUKURO
Journal of the Japanese Association of Rural Medicine 2025;74(1):30-35
Smooth muscle tumor of uncertain malignant potential (STUMP) is a type of uterine tumor that does not meet criteria for benign or malignant disease and can recur even after hysterectomy. Recently, loss of the ATRX gene, which encodes a chromatin remodeling protein, has been reported as a factor in recurrence. In this case, the patient underwent a simple abdominal hysterectomy and bilateral adnexectomy for a pelvic mass at the age of 59 years with a diagnosis of STUMP. At age 62 years, multiple masses were found in the thoracic cavity and the patient was diagnosed with recurrent uterine STUMP. Comprehensive genomic profiling revealed mutations in the ATRX gene. No treatment was effective, and the patient died 6 months after recurrence. Additional immunostaining of the surgical specimen was performed retrospectively and ATRX(-) status was confirmed. This case suggests that ATRX expression on immunostaining can be a prognostic factor.
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