Low prevalence of Gs α mutations in śomatotroph adenomas of children and adolescents
Markus Metzlera, Dieter K. Luedeckeb, Wolfgang Saegerc, Annette Gruetersd, Hannes Haberle, Wieland Kießf, Reinald Reppa, Wolfgang Raschera, Joerg Doetscha
- aDepartment of Pediatrics, University of Erlangen-Nuremberg, Loschgestr. 15, 91054 Erlangen, Germany
- bUniversity Neurosurgery Clinic, Martinistr. 52, 20246 Hamburg, Germany
- cInstitute of Pathology, Marienkrankenhaus, Alfredstr. 9, 22087 Hamburg, Germany
- dPediatric Endocrinology, Otto-Heubner-Centrum for Pediatrics- and Adolescent Medicine
- eNeurosurgical Department, Charite-University Hospital, Humboldt-University, Augustenburger Platz 1, 13353 Berlin, Germany
- fHospital for Children and Adolescents Leipzig, University of Leipzig, Oststr. 21-25, 04317 Leipzig, Germany
Papers open inside SciRah from the original publisher or repository; SciRah never hosts them.
Abstract
Mutations in the gene coding for the alpha-subunit of the heterotrimeric stimulatory G protein Gs are the most frequently identified molecular events in the development of somatotroph adenomas in adults. In children and adolescents, somatotroph adenomas are rare, and only two cases with the Gs alpha mutation have been reported so far. In this study, we therefore investigated the prevalence of activating Gs alpha mutations in 17 patients younger than 20 years with pituitary growth hormone-secreting adenomas and examined the characteristics of mutation-positive cases. The most common C-->T substitution in codon 201 was detected in two children. Interestingly, in contrast to the remaining cases, the adenomas positive for the Gs alpha mutation proved to be nonsporadic, but part of a syndrome associated with endocrine tumors in both individuals. Additional tests confirmed McCune-Albright syndrome in the first patient and multiple endocrine neoplasia type 1 syndrome in the second patient. In contrast to the findings in adult cases, somatotroph adenomas in young patients seem to carry somatic Gs alpha mutations at a lower frequency, and germ-line or early postzygotic mutational events may be responsible for the shortened latency of tumorigenesis.