Rhabdoid tumours can occur in almost any anatomic location, commonly in the central nervous system (atypical teratoid/rhabdoid tumour). Other locations include kidneys (renal rhabdoid tumour), head and neck, paravertebral muscles, liver, bladder, mediastinum, retroperitoneum, pelvis (extracranial extrarenal malignant rhabdoid tumour), and ovary (small cell carcinoma of the ovary, hypercalcaemic type (SCCOHT)).
There are limited data on the effectiveness of surveillance in children at increased risk of RTPS. RTPS is extremely rare, and this limits the ability of clinical researchers to perform large prospective studies to address the utility of surveillance. In addition, there are uncertainties with regard to the natural history of SMARCA4-associated carcinomas.
SCCOHT is a rare, highly aggressive cancer that occurs in young women. The average age at diagnosis is around age 24 years and approximately one-third of cases are diagnosed under age 20 years.r SCCOHT has poor prognosis, even for early stage disease.
Risk reducing bilateral oophorectomy should be discussed with all female carriers of a SMARCA4 pathogenic variant, or with their parent(s)/guardian(s) if a germline variant is detected in a minor.r The impact of oophorectomy on fertility and pubertal development, menopausal hormone therapy and other health factors needs to be weighed against the poor prognosis associated with malignancy. Where surgery is considered, girls and women of childbearing age should be referred to an appropriate specialist to discuss fertility preservation. The optimal age for oophorectomy is undetermined because of the lack of penetrance data. The role of salpingectomy at the time of oophorectomy is unknown.
These recommendations represent expert opinion and are informed by a paper published by attendees of the 2017 American Association for Cancer Research (AACR) Childhood Cancer Predisposition Workshop.r