G. Kontogeorgos et al., Monosomy of chromosome 11 in pituitary adenoma in a patient with familial multiple endocrine neoplasia type 1, CLIN ENDOCR, 54(1), 2001, pp. 117-120
Multiple endocrine neoplasia type 1 (MEN 1) represents an endocrine syndrom
e characterized by complex pituitary, parathyroid and pancreatic neoplasia.
Loss of heterozygosity of the specific region 11q13 has been reported in s
everal tumours from patients with MEN 1 inherited disorder. We present a ca
se of a young patient with familial MEN 1 syndrome with a pituitary adenoma
exhibiting monosomy of chromosome 11. The patient presented with a large a
nd rapidly growing pituitary adenoma associated with markedly elevated seru
m PRL levels, progressive bilateral visual loss and hydrocephalus. The rese
cted adenoma was chromophobic, mainly PRL-producing and to a lesser degree
immunoreactive for GH. Fluorescence in situ hybridization (FISH) using an a
lpha -satellite centromeric probe detected loss of one chromosome 11 copy i
n almost all pituitary adenoma cells. Clinical and biochemical studies reve
aled parathyroid hyperplasia and MRI studies detected a pancreatic tumour i
n addition to the pituitary adenoma. To our knowledge this is the first stu
dy reporting monosomy 11 in pituitary adenoma in a patient associated with
familial MEN 1 syndrome.