AJSP: Reviews & Reports

Skip Navigation LinksHome > March/April 2014 - Volume 19 - Issue 2 > DICER1-Pleuropulmonary Blastoma Familial Tumor Predispositio...
Pathology Case Reviews:
doi: 10.1097/PCR.0000000000000027
Case Review

DICER1-Pleuropulmonary Blastoma Familial Tumor Predisposition Syndrome: A Unique Constellation of Neoplastic Conditions

Schultz, Kris Ann MD*†‡; Yang, Jiandong PhD§∥; Doros, Leslie MD; Williams, Gretchen M. BS*†‡; Harris, Anne BA*†‡; Stewart, Douglas R. MD#; Messinger, Yoav MD*†‡; Field, Amanda MPH§; Dehner, Louis P. MD*†**; Hill, D. Ashley MD*†§∥

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Abstract: 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.

© 2014 by Lippincott Williams & Wilkins.


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