TY - JOUR
T1 - A case of uterine leiomyosarcoma in a survivor of hereditary retinoblastoma
AU - Kirita, Mitsuhiro
AU - Himoto, Yuki
AU - Kuriyama Matsumoto, Yuka
AU - Kurata, Yasuhisa
AU - Kido, Aki
AU - Yamaoka, Yusuke
AU - Yamanoi, Koji
AU - Mandai, Masaki
AU - Minamiguchi, Sachiko
AU - Nakamoto, Yuji
N1 - Publisher Copyright:
© The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature 2025.
PY - 2025
Y1 - 2025
N2 - Survivors of hereditary retinoblastoma have increased risk of subsequent primary malignancies due to RB1 mutation. We report uterine leiomyosarcoma (LMS) in a hereditary retinoblastoma survivor. She had follow-up for leiomyomas, with pelvic MRI showing typical leiomyomas two years prior. She presented with abdominal distention, and MRI revealed a massive tumor with LMS characteristics where a leiomyoma was previously observed. Chest CT showed a nodule suspicious for metastasis in the left lung. Total hysterectomy with bilateral salpingo-oophorectomy and partial lung resection was performed. Pathology confirmed LMS with pulmonary metastasis. Immunostaining showed complete RB1 loss in tumor cells. LMS was suspected to have arisen near a pre-existing leiomyoma or resulted from its malignant transformation. Continuous follow-up is necessary in hereditary retinoblastoma survivors.
AB - Survivors of hereditary retinoblastoma have increased risk of subsequent primary malignancies due to RB1 mutation. We report uterine leiomyosarcoma (LMS) in a hereditary retinoblastoma survivor. She had follow-up for leiomyomas, with pelvic MRI showing typical leiomyomas two years prior. She presented with abdominal distention, and MRI revealed a massive tumor with LMS characteristics where a leiomyoma was previously observed. Chest CT showed a nodule suspicious for metastasis in the left lung. Total hysterectomy with bilateral salpingo-oophorectomy and partial lung resection was performed. Pathology confirmed LMS with pulmonary metastasis. Immunostaining showed complete RB1 loss in tumor cells. LMS was suspected to have arisen near a pre-existing leiomyoma or resulted from its malignant transformation. Continuous follow-up is necessary in hereditary retinoblastoma survivors.
KW - Hereditary retinoblastoma
KW - Leiomyoma
KW - Magnetic resonance imaging (MRI)
KW - Malignant transformation
KW - Secondary malignancy
KW - Uterine leiomyosarcoma
UR - http://www.scopus.com/inward/record.url?scp=105004289011&partnerID=8YFLogxK
U2 - 10.1007/s00261-025-04943-7
DO - 10.1007/s00261-025-04943-7
M3 - 学術論文
AN - SCOPUS:105004289011
SN - 2366-004X
JO - Abdominal Radiology
JF - Abdominal Radiology
ER -