An Indian family of multiple endocrine neoplasia type 1 (MEN1): molecular diagnosis, treatment and follow up.

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. METHODS: 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. RESULTS: 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. CONCLUSION: Detection of the MEN1 gene mutation enables selection of family members for screening and long-term follow up.

Atypical distant metastases from hypopharyngeal cancer.

Hypopharyngeal squamous carcinoma is an aggressive disease with a high frequency of local and distant spread. Distant metastasis is seen more often now because of better loco-regional control due to more aggressive multimodal therapy. This article reports two cases of unusual metastatic disease from squamous carcinoma of pyriform sinus and reviews the metastatic disease in hypopharyngeal squamous cancers. The first was a case of metastatic pericardial effusion and the second was a metastasis to soft tissues of the scapular region and lung.