TY - JOUR
T1 - DICER1-pleuropulmonary blastoma familial tumor predisposition syndrome
T2 - A unique constellation of neoplastic conditions
AU - Schultz, Kris Ann
AU - Yang, Jiandong
AU - Doros, Leslie
AU - Williams, Gretchen M.
AU - Harris, Anne
AU - Stewart, Douglas R.
AU - Messinger, Yoav
AU - Field, Amanda
AU - Dehner, Louis P.
AU - Hill, D. Ashley
PY - 2014
Y1 - 2014
N2 - Germline mutations in DICER1 are associated with increased risk for a wide variety of neoplastic conditions, including pleuropulmonary blastoma, cystic nephroma, nasal chondromesenchymal hamartoma, ovarian Sertoli-Leydig cell tumors, botryoid embryonal rhabdomyosarcoma of the uterine cervix, ciliary body medulloepithelioma, pineoblastoma, pituitary blastoma, and nodular thyroid hyperplasia or thyroid carcinoma. These tumors may be seen in isolation or in constellation with other characteristic tumor types in individuals or family members. Here we describe the medical history of a child with a heterozygous, loss-of-function germline DICER1 mutation and multiple tumors associated with the syndrome. Although germline mutations in DICER1 are rare, tumors of these types will be seen by practicing pathologists and should prompt consideration of an underlying DICER1 mutation.
AB - Germline mutations in DICER1 are associated with increased risk for a wide variety of neoplastic conditions, including pleuropulmonary blastoma, cystic nephroma, nasal chondromesenchymal hamartoma, ovarian Sertoli-Leydig cell tumors, botryoid embryonal rhabdomyosarcoma of the uterine cervix, ciliary body medulloepithelioma, pineoblastoma, pituitary blastoma, and nodular thyroid hyperplasia or thyroid carcinoma. These tumors may be seen in isolation or in constellation with other characteristic tumor types in individuals or family members. Here we describe the medical history of a child with a heterozygous, loss-of-function germline DICER1 mutation and multiple tumors associated with the syndrome. Although germline mutations in DICER1 are rare, tumors of these types will be seen by practicing pathologists and should prompt consideration of an underlying DICER1 mutation.
KW - DICER1
KW - Sertoli-Leydig
KW - nasal chondromesenchymal hamartoma
KW - pleuropulmonary blastoma
KW - thyroid carcinoma
UR - http://www.scopus.com/inward/record.url?scp=84896995475&partnerID=8YFLogxK
U2 - 10.1097/PCR.0000000000000027
DO - 10.1097/PCR.0000000000000027
M3 - Review article
C2 - 25356068
AN - SCOPUS:84896995475
SN - 1082-9784
VL - 19
SP - 90
EP - 100
JO - Pathology Case Reviews
JF - Pathology Case Reviews
IS - 2
ER -