DICER1-pleuropulmonary blastoma familial tumor predisposition syndrome: A unique constellation of neoplastic conditions

Kris Ann Schultz, Jiandong Yang, Leslie Doros, Gretchen M. Williams, Anne Harris, Douglas R. Stewart, Yoav Messinger, Amanda Field, Louis P. Dehner, D. Ashley Hill

Research output: Contribution to journalReview article

51 Scopus citations

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.

Original languageEnglish
Pages (from-to)90-100
Number of pages11
JournalPathology Case Reviews
Volume19
Issue number2
DOIs
StatePublished - Jan 1 2014

Keywords

  • DICER1
  • Sertoli-Leydig
  • nasal chondromesenchymal hamartoma
  • pleuropulmonary blastoma
  • thyroid carcinoma

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    Schultz, K. A., Yang, J., Doros, L., Williams, G. M., Harris, A., Stewart, D. R., Messinger, Y., Field, A., Dehner, L. P., & Hill, D. A. (2014). DICER1-pleuropulmonary blastoma familial tumor predisposition syndrome: A unique constellation of neoplastic conditions. Pathology Case Reviews, 19(2), 90-100. https://doi.org/10.1097/PCR.0000000000000027