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Rothmund-Thomson syndrome is a rare inherited condition with a distinctive skin rash called poikiloderma, and its type 2 form, caused by faults in RECQL4, carries a high risk of bone cancer in childhood. Families are taught the signs of bone cancer, and a baseline skeletal survey is done by age five.
Autosomal recessive; type 2 is biallelic RECQL4 (a RecQ helicase), type 1 ANAPC1; CRIPT and DNA2 have been reported in others. Osteosarcoma prevalence in type 2 is about 30%, median onset 9 to 10, estimated probability about 50% by 20; skin cancer about 5%. Osteosarcoma outcomes are not worse than without RTS, so full-dose treatment is given unless toxicity develops.
AACR 2024: whole-body MRI could be used for osteosarcoma surveillance after weighing risks and benefits (benefit of early detection is uncertain and skeletal anomalies cause false positives); awareness of bone pain and swelling; baseline skeletal survey by five; sun protection; annual physical, eye and skin examination.
In plain words · RECQL4 (ATP-dependent DNA helicase Q4) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Sarcomas, Gastric & gastro-oesophageal junction cancer, Breast cancer and 5 more.
Showing the target this term concerns: RECQL4.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Whole-body MRI, Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Whole-body MRI, Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
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