ArticleBMJ paediatrics open2025
Tumours in children and adolescents with Turner syndrome and Klinefelter syndrome: a retrospective Chinese cohort study.
Article in BMJ paediatrics open, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
purposeTo analyse the incidence and characteristics of tumours diagnosed during childhood or adolescence in patients with Turner syndrome (TS) and Klinefelter syndrome (KS).
methodsA retrospective analysis was conducted on clinical information of children diagnosed with TS and KS between 2010 and mid-2024. Meanwhile, the number of children with concomitant tumours was determined, and the incidence was analysed.
resultA total of 23 individuals (median age 10 years, range: after birth to 16 years) with tumours were identified among the 657 children with TS and KS (median age=9 years, range: birth to 18 years), resulting in a tumour incidence of 3.50%. Within a cohort of 560 TS cases (median age 9 years, range: birth to18 years), 20 (3.57 %) were diagnosed with tumours. In a cohort of 97 KS cases (median age 4.3 years, range: 1-16 years), three (3.09 %) cases were diagnosed with tumours. The most common tumours in TS were osteochondroma (n=7) and haemangioma (n=6), with an estimated incidence of 1.25% and 1.07%, followed by gonadoblastoma (n=2), with an incidence of 0.36% in all TS and 4.44% in TS presenting with Y-chromosome material. In patients with KS, haemangioma (n=1), acute lymphoblastic leukaemia (n=1) and germ cell tumours (n=1) were observed. The co-occurrence of hepatic haemangiomas, mixed-phenotype acute leukaemia in TS, and the karyotypes (48,XXY,+21) of patient with intracranial germ cell tumours have not been previously reported.
conclusionEarly-diagnosed TS and KS present with a variety of tumours in affected children, with osteochondromas representing the most prevalent in early diagnosed TS.
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