abstract: DICER1 Mutations in Familial Multinodular Goiter (thyroid) With and Without Ovarian Sertoli-Leydig Cell Tumors

define: 

multinodular goiter - A multinodular goiter is  a thyroid gland that is usually enlarged and contains multiple thyroid nodules.

Pleuropulmonary blastoma (PPB) is a rare cancer originating in the lung or pleural cavity....
en.wikipedia.org/wiki/Pleuropulmonary_blastoma

 

---------------------------------------------------------------------------------------

Objective To determine whether familial MNG  (multinodular goiter) with or without SLCT (Sertoli-Leydig cell tumor of the ovary) in the absence of PPB (pleuropulmonary blastoma)  was associated with mutations in DICER1. 

 

Conclusions DICER1 mutations are associated with both familial MNG and MNG with SLCT, independent of PPB. These germline DICER1 mutations are associated with dysregulation of miRNA expression patterns.