Indian Journal of Science and Technology

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Multiple endocrine neoplasia (MEN1& MEN2) are autosomal dominant disorders presenting tumors in two or more organs such as parathyroid tumors and anterior pituitary glands so on. Lymphocyte chromosomes from a MEN1patient with an anterior pituitary tumor including her sisters and children and 5 MEN2A patients with medullary thyroid carcinoma were studied for the genetic instability. Chromosome type aberrations such as dicentrics, rings, minutes, translocations and deletions were found in 20% of the observed cells of the MEN1patient. Three of the 5 patients showed a slight increase in this type of aberrations in 6.4, 4.3 and 1.1% of observed cells. Contrarily, frequencies of spontaneous chromatid type aberration in both MEN1and MEN2A patients were not significantly higher than of controls. There were no increase in the MTX-induced chromatid breaks and no unique fragile sites were observed in all MEN2A patients. High incidence of chromosome instability (only chromosome type aberrations) in the lymphocytes of MEN1 and MEN2A patients presents an interesting observation to understand the genetic pathology prone to the hereditary type tumor development of acquisition of more advance stage tumors and the mechanisms for how transmissible genes induce chromosome type aberrations alone.

Keywords

Multiple Endocrine Neoplasia, Chromosome Instability, Medullary Thyroid Cancer
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