¹ Department of Genetics, Biology and Biochemistry UniversityofTurin,ltaly, ViaSantena 19-10126TurinTOltaly(barbara.pasini@unito.it), ²Division of Pediatric Endocrinology, Regina Margherita Children's Hospital, Turin, Italy, ³Division of Pediatric Oncology, Regina Margherita Children's Hospital, Turin,ltaly, ⁴Department o fPaediatric Science University of Turin, Italy, ⁵Pediatric Oncology Unit, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy

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Here we report two Italian families with the association of sarcoma botryoides of the uterine cervix and early onset thyroid goitre requiring thyroidectomy during the second decades of life.

In the first family, of Sicily origin, the index case, a young girl14 years old, developed a cervical sarcoma botryoides. Her mother underwent resection of a cervical polyps at 15 years of age with diagnosis of sarcoma botryoides and died of malignant fibrous histiocytoma of the leg. The maternal aunt developed a virilizing Sertoli-Leydig cell tumour of the ovary. Thyroid nodular goitre was diagnosed in the proband, the same aunt, the maternal grand mother and the sister of the latter.

In the second family, two twin sisters underwent total thyroidectomy for multinodular goitre at 11 and 13 years of age, respectively. The first one later developed a cervical sarcoma botryoides at 13 years and present with two lung cysts. The second one had the resection of a fibrovascular polyp of the oesophagus during the second year of life. The co-occurrence in the same patient or in the same family of rare tumours and of a common disease, such as thyroid goitre, but with unusual early-onset and severity, can suggest the presence of a genetic predisposition. Indeed, three young girls have been reported in literature as sporadic cases of cervical sarcoma botryoides followed, a few years later, by the diagnosis of ovarian Sertoli-Leydig cell tumour (SLCT). Moreover, six cases have been recorded of familial aggregation ofSLCT: in three ofthese families thyroid adenomas or nodular goitre were also present in affected patients or family members. Finally, the association of thyroid abnormalities and "arrhenoblastoma" has been described in four patients of the AFIP series of childhood ovarian tumors. However this is the first report on the association of early-onset thyroid goitre and sarcoma botryoides of the cervix.