En familie med nedarvet DICER1-mutation

TY - JOUR

T1 - En familie med nedarvet DICER1-mutation

AU - Altaraihi, Mays

AU - Pedersen, Jens

AU - Rossing, Maria

AU - Gerdes, Anne-Marie

AU - Wadt, Karin

PY - 2018

Y1 - 2018

N2 - Germ line DICER1 mutations predispose to a syndrome associated with increased risk of e.g. multinodular goitre (MNG), pleuropulmonary blastoma and Sertoli-Leydig cell tumour (SLCT). This is a case report about a family with a nonsense DICER1 mutation, c.988C>T, affecting six family members. The proband had once undergone a unilateral oophorectomy and a thyroidectomy due to SLCT and MNG, respectively. The proband has two children with the mutation but with no manifestations. Given this circumstance, we discuss the prospects of an implementation of screening programmes for children with predisposed cancerous syndromes.

AB - Germ line DICER1 mutations predispose to a syndrome associated with increased risk of e.g. multinodular goitre (MNG), pleuropulmonary blastoma and Sertoli-Leydig cell tumour (SLCT). This is a case report about a family with a nonsense DICER1 mutation, c.988C>T, affecting six family members. The proband had once undergone a unilateral oophorectomy and a thyroidectomy due to SLCT and MNG, respectively. The proband has two children with the mutation but with no manifestations. Given this circumstance, we discuss the prospects of an implementation of screening programmes for children with predisposed cancerous syndromes.

M3 - Letter

C2 - 29938629

SN - 0041-5782

VL - 180

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

IS - 25

M1 - V01180063

ER -