DICER1-Related Pleuropulmonary Blastoma (PPB) Syndrome Study

Publications

2022

Golmard L, Vasta LM, Duflos V, et al. Testicular Sertoli cell tumour and potentially testicular Leydig cell tumour are features of DICER1 syndrome. J Med Genet. 2022;59(4):346-350. DOI:10.1136/jmedgenet-2020-107434.

González IA, Stewart DR, Schultz KAP, Field AP, Hill DA, Dehner LP. DICER1 tumor predisposition syndrome: an evolving story initiated with the pleuropulmonary blastoma. Mod Pathol. 2022;35(1):4-22. DOI:10.1038/s41379-021-00905-8.

2021

Mirshahi UL, Kim J, Best AF, et al. A Genome-First Approach to Characterize DICER1 Pathogenic Variant Prevalence, Penetrance, and Phenotype. JAMA Netw Open. 2021;4(2):e210112. Published 2021 Feb 1. DOI:10.1001/jamanetworkopen.2021.0112.

Vasta LM, Khan NE, Higgs CP, et al. Hematologic indices in individuals with pathogenic germline DICER1 variants. Blood Adv. 2021;5(1):216-223. DOI:10.1182/bloodadvances.2020002651.

Venger K, Elbracht M, Carlens J, et al. Unusual phenotypes in patients with a pathogenic germline variant in DICER1. Fam Cancer. 2021;10.1007/s10689-021-00271-z. DOI:10.1007/s10689-021-00271-z.

2020

Merideth MA, Harney LA, Vyas N, et al. Gynecologic and reproductive health in patients with pathogenic germline variants in DICER1. Gynecol Oncol. 2020;156(3):647-653. DOI:10.1016/j.ygyno.2019.12.037.

Schultz KAP, Nelson A, Harris AK, et al. Pleuropulmonary blastoma-like peritoneal sarcoma: a newly described malignancy associated with biallelic DICER1 pathogenic variation. Mod Pathol. 2020;33(10):1922-1929. DOI:10.1038/s41379-020-0558-4.

Vasta LM, McMaster ML, Harney LA, et al. Lack of pathogenic germline DICER1 variants in males with testicular germ-cell tumors. Cancer Genet. 2020;248-249:49-56. DOI:10.1016/j.cancergen.2020.10.002.

Vasta LM, Nichols A, Harney LA, et al. Nasal chondromesenchymal hamartomas in a cohort with pathogenic germline variation in DICER1. Rhinol Online. 2020;3:15-24. DOI:10.4193/rhinol/20.007.

2019

Choi S, Lee JS, Bassim CW, et al. Dental abnormalities in individuals with pathogenic germline variation in DICER1. Am J Med Genet A. 2019;179(9):1820-1825. DOI:10.1002/ajmg.a.61292.

Huryn LA, Turriff A, Harney LA, et al. DICER1 Syndrome: Characterization of the Ocular Phenotype in a Family-Based Cohort Study. Ophthalmology. 2019;126(2):296-304. DOI:10.1016/j.ophtha.2018.09.038.

Kim J, Schultz KAP, Hill DA, Stewart DR. The prevalence of germline DICER1 pathogenic variation in cancer populations. Mol Genet Genomic Med. 2019;7(3):e555. DOI:10.1002/mgg3.555.

Stewart DR, Best AF, Williams GM, et alA. Neoplasm Risk Among Individuals With a Pathogenic Germline Variant in DICER1. J Clin Oncol. 2019;37(8):668-676. DOI:10.1200/JCO.2018.78.4678.

2018

Khan NE, Ling A, Raske ME, et al. Structural renal abnormalities in the DICER1 syndrome: a family-based cohort study. Pediatr Nephrol. 2018;33(12):2281-2288. DOI:10.1007/s00467-018-4040-1.

Schultz KAP, Williams GM, Kamihara J, et al. DICER1 and Associated Conditions: Identification of At-risk Individuals and Recommended Surveillance Strategies. Clin Cancer Res. 2018;24(10):2251-2261. DOI:10.1158/1078-0432.CCR-17-3089.

2017

Khan NE, Bauer AJ, Doros L, et al. Macrocephaly associated with the DICER1 syndrome. Genet Med. 2017;19(2):244-248. DOI:10.1038/gim.2016.83.

Khan NE, Bauer AJ, Schultz KAP, et al. Quantification of Thyroid Cancer and Multinodular Goiter Risk in the DICER1 Syndrome: A Family-Based Cohort Study. J Clin Endocrinol Metab. 2017;102(5):1614-1622. DOI:10.1210/jc.2016-2954.

Kim J, Field A, Schultz KAP, Hill DA, Stewart DR. The prevalence of DICER1 pathogenic variation in population databases. Int J Cancer. 2017;141(10):2030-2036. DOI:10.1002/ijc.30907.

Schultz KAP, Harris AK, Finch M, et al. DICER1-related Sertoli-Leydig cell tumor and gynandroblastoma: Clinical and genetic findings from the International Ovarian and Testicular Stromal Tumor Registry. Gynecol Oncol. 2017;147(3):521-527. DOI:10.1016/j.ygyno.2017.09.034.

2015

Brenneman M, Field A, Yang J, et al. Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in pleuropulmonary blastoma / DICER1 syndrome: a unique variant of the two-hit tumor suppression model. F1000Res. 2015;4:214. DOI:10.12688/f1000research.6746.2.

Messinger YH, Stewart DR, Priest JR, et al. Pleuropulmonary blastoma: a report on 350 central pathology-confirmed pleuropulmonary blastoma cases by the International Pleuropulmonary Blastoma Registry. Cancer. 2015;121(2):276-285. DOI:10.1002/cncr.29032.

2014

Schultz KAP, Stewart DR, Kamihara J, et al. DICER1 Tumor Predisposition. GeneReviews®. 2014 April 24. In: Adam MP, Ardinger HH, Pagon RA, et al., eds.

Stewart DR, Messinger Y, Williams GM, et al. Nasal chondromesenchymal hamartomas arise secondary to germline and somatic mutations of DICER1 in the pleuropulmonary blastoma tumor predisposition disorder. Hum Genet. 2014;133(11):1443-1450. DOI:10.1007/s00439-014-1474-9.