RET mutation screening in familial cutaneous lichen amyloidosis and in skin amyloidosis associated with multiple endocrine neoplasia.
In several families, multiple endocrine neoplasia type 2A (MEN 2A) has been found in association with cutaneous lichen amyloidosis. It has been debated, however, whether the skin amyloidosis found in MEN 2A families, localized exclusively in the interscapular area, represents the same anomaly as that found in autosomal dominant familial cutaneous lichen amyloidosis, which is more generalized. We screened two MEN 2A families with associated skin amyloidosis for germline mutations in the RET gene responsible for the MEN 2A cancer syndrome, and found the same mutation characteristic of MEN 2A in both families. We also screened probands from three pedigrees with familial cutaneous lichen amyloidosis for RET mutations. In none of the RET coding and flanking intronic sequences was a mutation detected. This most probably indicates that skin amyloidosis found in some MEN 2A families and familial cutaneous lichen amyloidosis are different conditions. Consequently, patients with apparent familial cutaneous lichen amyloidosis do not appear to be at risk for MEN 2A.
Hofstra
R M
RM
Department of Medical Genetics, University of Groningen, The Netherlands.
Sijmons
R H
RH
Stelwagen
T
T
Stulp
R P
RP
Kousseff
B G
BG
Lips
C J
CJ
Steijlen
P M
PM
Van Voorst Vader
P C
PC
Buys
C H
CH
D000686:Amyloidosis / Q000235:genetics*; D001483:Base Sequence; D005820:Genetic Testing; D006239:Haplotypes; D006801:Humans; D017512:Lichenoid Eruptions / Q000150:complications* / Q000235:genetics*; D015335:Molecular Probes / Q000235:genetics; D008969:Molecular Sequence Data; D018813:Multiple Endocrine Neoplasia Type 2a / Q000150:complications* / Q000235:genetics; D009154:Mutation; D010375:Pedigree; D011110:Polymorphism, Genetic; D012871:Skin Diseases / Q000235:genetics*
D015335:Molecular Probes