Endocrine Abstracts

Introduction: Most of the work on the analysis of molecular genetic defects in pituitary adenomas devoted to the study of 1–2 candidate genes. The high-performance parallel sequencing is more promising.

Materials and Methods: There were a total of 26 families (58 patients, 36 (62.1%) men and 22 (37.9%) women) with pituitary adenomas secretion of various types. The number of families with homogenous type was 17 (somatotropinomas 13, prolactinomas 2, corticotropinomas 1, inactive pituitary adenomas 1), with a heterogeneous type – 9 (7 of theses families had somatotropinomas/inactive pituitary adenomas, 2 families had prolactinomas/inactive pituitary adenomas. The number of family members with hypertension ranged from 2 to 7.The high-performance parallel sequencing was implemented with the gene panel (MEN1, CDKN1B, PRKAR1A, GNAS, AIP, SDHA, SDHB, SDHC, SDHD, PRKCA, CDKN2C, CDKN2A, POU1F1, PTTG2).

Genetic investigation: According to a study in four patients with somatotropinomasidentified mutations were AIP p.R271W and p.A411GfsX47, one patient was identified with polymorphisms with unproven value in pathological gene SDHA p.V589V, and one patient with the phenotype of McCune-Albright syndrome had heterozygous p.S163P replacement in SDHB gene.

Conclusion: The genetic changes using a multi-gene panel were identified in only 20% of tested families. New gene candidates are highly needed for familial pituitary adenomas.