[Familial surveys in screening for thyroid cancers with amyloid stroma. Report of a personal survey carried out on 80 members of the same family].
We have recently studied a large family of 80 persons in which 47 were examined. The evaluation included history, blood pressure determination, palpation of the thyroid gland and determination of serum carcino-embryonic antigen (C.E.A.) and calcitonin (C.T.). Two members of the kindred had a proven M.C.T. without pheochromocytoma, hyperparathyroidism or Cushing's disease and two others a probable M.C.T. Four members suffered from intestinal occlusion and death occurred in three of them. Our conclusions are: 1) In this family traced through 4 generations: it appears that M.C.T. is transmitted as an autosomal dominant trait with a high degree of penetrance; 2) Our cases associated with those reported in the literature in the past few years point to the existence of a rare but distinct syndrome characterised by the association of M.C.T. and congenital megacolon with hyperplasia of the myenteric plexus; 3) As far as we know, this is the first indication of C.E.A. coupled with elevated calcitonin among several individuals of the same family. We confirm here the conclusions of previous studies: "C.E.A. is a valuable tumour marker which can be used for the detection of M.C.T., particularly if no calcitonin radio-immuno assay is available.
D000328:Adult; D000368:Aged; D002116:Calcitonin / Q000097:blood; D002272:Carcinoembryonic Antigen / Q000032:analysis; D002277:Carcinoma / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012306:Risk; D013964:Thyroid Neoplasms / Q000175:diagnosis / Q000235:genetics*
D002272:Carcinoembryonic Antigen; D002116:Calcitonin
Les enquêtes familiales pour dépistage du cancer de la thyroïde à stroma amyloïde. Présentation d'une enquête personnelle portant sur 80 membres d'une même famille.