Neoplasia in Turner syndrome. The importance of clinical and screening practices during follow-up

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• 作者：Daniela Larizza^a ; ^{d.larizza@smatteo.pv.it" class="auth_mail" title="E-mail the corresponding author} ; Michela Albanesi^a ; Annalisa De Silvestri^b ; Giulia Accordino^a ; Valeria Brazzelli^c ; Gabriella Carnevale Maffè ; ^d ; Valeria Calcaterra^a
• 关键词：Turner syndrome ; Neoplasia ; Cancer ; Children ; X-chromosome
• 刊名：European Journal of Medical Genetics
• 出版年：2016
• 出版时间：May 2016
• 年：2016
• 卷：59
• 期：5
• 页码：269-273
• 全文大小：231 K

文摘

Turmer syndrome (TS) patients show increased morbidity due to metabolic, autoimmune and cardiovascular disorders. A risk of neoplasia is also reported. Here, we review the prevalence of neoplasia in a cohort of Turner patients.

Methods

We retrospectively evaluated 87 TS women. Follow-up included periodic ultrasound of the neck, abdominal and pelvic organs, dermatologic evaluation and fecal occult blood test. Karyotype was 45,X in 46 patients. During follow-up, 63 girls were treated with growth hormone, 65 with estro-progestin replacement therapy and 20 with L-thyroxine. Autoimmune diseases were present in 29 TS.

Results

A total of 17 neoplasms in 14 out of 87 patients were found. Six skin neoplasia, 3 central nervous system tumors, 3 gonadal neoplasia, 2 breast tumors, 1 hepatocarcinoma, 1 carcinoma of the pancreas and 1 follicular thyroid cancer were detected. Age at tumor diagnosis was higher in 45,X pts than in those with other karyotypes (p = 0.003). Adenomioma gallbladdder (AG) was detected in 15.3% of the patients, with a lower age in girls at diagnosis with an associated neoplasia in comparison with TS without tumors (p = 0.017). No correlation between genetic make up, treatment, associated autoimmune diseases and neoplastia was found.

Conclusion

In our TS population an increased neoplasia prevalence was reported. A high prevalence of AG was also noted and it might be indicative of a predisposition to neoplasia. Further studies are needed to define the overall risk for neoplasia, and to determine the role of the loss of the X-chromosome and hormonal therapies.