Gynecologic Manifestations of the DICER1 Syndrome

Colin J R Stewart; Adrian Charles; William D Foulkes

doi:10.1016/j.path.2016.01.002

Gynecologic Manifestations of the DICER1 Syndrome

Surg Pathol Clin. 2016 Jun;9(2):227-41. doi: 10.1016/j.path.2016.01.002. Epub 2016 Apr 9.

Authors

Colin J R Stewart¹, Adrian Charles², William D Foulkes³

Affiliations

¹ Department of Histopathology, King Edward Memorial Hospital, School for Women's and Infants' Health, University of Western Australia, Subiaco, Perth, Western Australia 6008, Australia. Electronic address: colin.stewart@health.wa.gov.au.
² Department of Anatomical Pathology, Sidra Medical and Research Center, PO Box 26999, Doha, Qatar.
³ Department of Human Genetics, McGill University, Montreal, Quebec, Canada; Department of Oncology, McGill University, Montreal, Quebec, Canada; Department of Medical Genetics, Jewish General Hospital, McGill University Health Centre, Montreal, Quebec, Canada; Cancer Genetics Laboratory, Lady Davis Institute, Montreal, Quebec H3T 1E2, Canada.

PMID: 27241106
DOI: 10.1016/j.path.2016.01.002

Abstract

Patients with germline DICER1 mutations are at increased risk of developing a wide range of tumors, most of which are relatively rare in the general population. In the gynecologic tract, these include ovarian sex cord-stromal tumors, particularly Sertoli-Leydig cell tumor, and embryonal rhabdomyosarcoma of the cervix. In some cases, these are the sentinel neoplasms. DICER1-associated tumors may have distinctive morphologic appearances that may prompt the pathologist to consider an underlying tumor predisposition syndrome and therefore consideration of genetic evaluation in the patient and her family.

Keywords: Cervix; DICER1; Mutation; Ovary; Rhabdomyosarcoma; Sertoli-Leydig cell tumor; Syndrome.

Publication types

Review

MeSH terms

DEAD-box RNA Helicases / genetics*
Diagnosis, Differential
Female
Genetic Predisposition to Disease
Genital Neoplasms, Female / diagnosis
Genital Neoplasms, Female / genetics*
Genital Neoplasms, Female / pathology
Germ-Line Mutation
Humans
Neoplastic Syndromes, Hereditary / diagnosis
Neoplastic Syndromes, Hereditary / genetics*
Neoplastic Syndromes, Hereditary / pathology
Ovarian Neoplasms / diagnosis
Ovarian Neoplasms / genetics
Ovarian Neoplasms / pathology
Prognosis
Rhabdomyosarcoma, Embryonal / diagnosis
Rhabdomyosarcoma, Embryonal / genetics
Rhabdomyosarcoma, Embryonal / pathology
Ribonuclease III / genetics*
Sertoli-Leydig Cell Tumor / diagnosis
Sertoli-Leydig Cell Tumor / genetics
Sertoli-Leydig Cell Tumor / pathology
Sex Cord-Gonadal Stromal Tumors / diagnosis
Sex Cord-Gonadal Stromal Tumors / genetics
Sex Cord-Gonadal Stromal Tumors / pathology
Uterine Cervical Neoplasms / diagnosis
Uterine Cervical Neoplasms / genetics
Uterine Cervical Neoplasms / pathology

Substances

DICER1 protein, human
Ribonuclease III
DEAD-box RNA Helicases