Gonadoblastoma in Turner syndrome and Y-chromosome-derived material.
The identification of Y-chromosome material is important in females with Ullrich-Turner syndrome (UTS) due to the risk of developing gonadoblastoma or other gonadal tumors. There is controversy regarding the frequency of the Y-chromosome-derived material and the occurrence of gonadoblastoma in these patients. The aim of our study was to evaluate a large number of patients with UTS, followed before and during the pubertal age for the prevalence of Y-chromosome derived material, the occurrence of gonadoblastoma, and the incidence of possible neoplastic degeneration. An unselected series of 171 patients with UTS (1-34 years old), diagnosed cytogenetically, was studied for Y-chromosome markers (SRY and Y-centromeric DYZ3 repeats). The follow-up was of 2-22 years; 101 of these patients were followed during pubertal age. Y-chromosome material was found in 14 patients (8%): 12 of these were gonadectomized (2.8-25.9 years). A gonadoblastoma was detected in four patients under 16 years of age: in two, Y-material was detected only at molecular analysis (at conventional cytogenetic analysis, one was included in the 45,X group and one in the X + mar group) and one had also an immature teratoma and an endodermal sinus carcinoma. The prevalence of gonadoblastoma in our series of gonadectomized UTS patients with Y-positive material was of 33.3% (4/12). Our data suggest that the age of appearance and the possibility of malignant degeneration of gonadoblastoma can occur early in life. These patients, in particular those with 45,X or a marker chromosome may benefit from molecular screening to detect the presence of Y-chromosome material; PCR is a rapid and inexpensive technique. At the moment, laparoscopy and preventive gonadectomy performed as soon as possible remain the procedures of choice for patients with UTS, when Y-chromosome has been identified, as we are still unable to predict a future malignant evolution of gonadoblastoma.
Mazzanti
Laura
L
Department of Pediatrics, Pediatric Clinic, S.Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy. laura.mazzanti@unibo.it
Cicognani
Alessandro
A
Baldazzi
Lilia
L
Bergamaschi
Rosalba
R
Scarano
Emanuela
E
Strocchi
Simona
S
Nicoletti
Annalisa
A
Mencarelli
Francesca
F
Pittalis
Mariacarla
M
Forabosco
Antonino
A
Cacciari
Emanuele
E
D000293:Adolescent; D000328:Adult; D000704:Analysis of Variance; D002503:Centromere / Q000235:genetics; D016009:Chi-Square Distribution; D002648:Child; D002675:Child, Preschool; D041322:Chromosomes, Human, Y / Q000235:genetics*; D005260:Female; D024282:Genes, sry / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D018238:Gonadoblastoma / Q000150:complications / Q000175:diagnosis* / Q000601:surgery; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D016014:Linear Models; D010051:Ovarian Neoplasms / Q000150:complications / Q000175:diagnosis* / Q000601:surgery; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics; D014424:Turner Syndrome / Q000150:complications / Q000235:genetics*
D005819:Genetic Markers