Shah Sudeep R, Raghavan Rani, Desai Devendra C, Chauhan Phulrenu H, Lala Murad, Dherai Alpa J, Ashavaid Tester F
Division of Surgery, P D Hinduja National Hospital and Medical Research Centre, Mumbai, India.
Indian J Gastroenterol. 2008 Nov-Dec;27(6):242-4.
BACKGROUND/OBJECTIVE: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal, dominant syndrome, characterized mainly by the combination of tumors involving the parathyroid, pancreatic and pituitary glands. Genetic sequencing leading to early treatment of family members has not yet been reported in Indian patients.
We performed molecular analysis of the MEN1 gene to identify mutations in an Indian family with MEN1 syndrome. The proband was identified with multiple peptic ulcers because of multifocal recurrent gastrinomas, as well as parathyroid and pituitary adenomas. All the 10 exons of the MEN1 gene were amplified using the polymerase chain reaction (PCR). The MEN1 gene was then screened by direct DNA sequencing.
The proband is asymptomatic 3 years after total pancreatectomy and removal of parathyroid adenomas. DNA sequencing revealed the presence of a heterozygous Y227X mutation in exon 4 of the MEN1 gene in the proband. Four of the seven mutant-carrying family members are at present asymptomatic. Following screening, one asymptomatic child has been identified with and treated for insulinoma and parathyroid adenoma.
Detection of the MEN1 gene mutation enables selection of family members for screening and long-term follow up.
背景/目的：1型多发性内分泌腺瘤病（MEN1）是一种常染色体显性综合征，主要特征为甲状旁腺、胰腺和垂体肿瘤的联合出现。在印度患者中，尚未有通过基因测序实现对家庭成员进行早期治疗的报道。
我们对一个患有MEN1综合征的印度家族进行了MEN1基因的分子分析以确定突变情况。先证者因多灶性复发性胃泌素瘤以及甲状旁腺和垂体腺瘤而被诊断出患有多发性消化性溃疡。使用聚合酶链反应（PCR）扩增MEN1基因的所有10个外显子。然后通过直接DNA测序对MEN1基因进行筛查。
先证者在全胰腺切除和甲状旁腺腺瘤切除术后3年无症状。DNA测序显示先证者的MEN1基因第4外显子存在杂合Y227X突变。7名携带突变的家庭成员中有4名目前无症状。经过筛查，一名无症状儿童被诊断出患有胰岛素瘤和甲状旁腺腺瘤并接受了治疗。
检测MEN1基因突变能够选择家庭成员进行筛查和长期随访。
