Publications

Schultz KAP, MacFarland SP, Perrino MR, Mitchell SG, Kamihara J, Nelson AT, Mallinger PHR, Brzezinski J, Maxwell KN, Woodward ER, Gallinger B, Kim SY, Greer M-L C, Wolfe Schneider K, Scollon S, Das A, Wasserman JD, Eng C, Malkin D, Foulkes WD, Michaeli O*, Bauer AJ*, Stewart DR*. Update on Pediatric Surveillance Recommendations for PTEN Hamartoma Tumor Syndrome, DICER1-Related Tumor Predisposition, and Tuberous Sclerosis Complex. Clinical Cancer Research, 2024 Nov 14. DOI: 10.1158/1078-0432.CCR-24-1947. Online ahead of print. (*denotes shared senior authorship)

Schultz KAP*, Nelson AT*, Mallinger PHR, Harris AK, Kamihara J, Baldinger S, Chen KS, Pond D, Hatton JN, Dyvbik AG, Mitchell SG, Perrino MR, Ben-Ami T, Kachanov D, Su Y, Duan C, Olson DR, Watson D, Field AL, Harney LA, Carr AG, Frazier AL, Schneider DT, Wilson DB, MacFarland SP, Schoettler PJ, Bauer AJ, Dehner LP, Hill DA*, Stewart DR*, Messinger YH* DICER1-Related Tumor Predisposition: Identification of At-risk Individuals and Recommended Surveillance Strategies. Clinical Cancer Research, 2024 Dec 16;30(24):5681-5692. DOI: 10.1158/1078-0432.CCR-24-1532. (*shared first/senior authorship)

Nelson AT, Harris AK, Watson D, Kamihara J, Chen KS, Stall JN, Devins K, Young RH, Olson D, Mallinger P, Mitchell S, Hoffman L, Halliday G, Suleymanova A, Bender JG, Messinger YH, Herzog CE, Field A, Frazier AL, Stewart DR, Dehner LP, Hill DA, Billmire DF, Schneider DT, Schultz KAP. Outcomes in Ovarian Sertoli-Leydig Cell Tumor: A Report from the International Pleuropulmonary Blastoma/DICER1 and Ovarian and Testicular Stromal Tumor Registries. Gynecologic Oncology, 2024 Apr 22:186:117-125. DOI: 10.1016/j.ygyno.2024.04.005. Online ahead of print.

Kim J, Haley JS, Hatton JN, Mirshahi UL, Rao HS, Ramos ML, Smelser D, Urban G, Schultz KAP, Carey DJ, Stewart DR. A genome-first approach to characterize DICER1 pathogenic variant prevalence, penetrance and cancer, thyroid, and other phenotypes in 2 population-scale cohorts. Genetics in Medicine Open, 2024. DOI: 10.1016/j.gimo.2024.101846.

Nelson AT, Vasta LM, Watson D, Kim J, Harris AK, Best AF, Harney LA, Carr AG, Frederickson N, Dehner LP, Kratz CP, Hagedorn KN, Mize WA, Ling A, Messinger YH, Hill DA, Schultz KAP*, Stewart DR*. Prevalence of lung cysts in individuals with a DICER1 pathogenic germline variant: A Report from the National Institutes of Health and International Pleuropulmonary Blastoma (PPB)/DICER1 Registry. Thorax, 2024, Mar 20:thorax-2023-221024. DOI: 10.1136/thorax-2023-221024. Online ahead of print (*shared co-last authorship).

Fraire CR, Mallinger PR, Hatton JN, Kim J, Dickens DS, Argenta PA, Milanovich S, Hartshorne T, Carey DJ, Haley JS, Urban G, Lee J, Hill DA, Stewart DR, Schultz KAP, Chen KS. Intronic germline DICER1 variants in patients with Sertoli-Leydig cell tumor. JCO Precision Oncology. 2023 May 30. DOI:10.1007/s10689-023-00336-1.

Ricarte-Filho JC, Casado-Medrano V, Reichenberger E, Spangler Z, Scheerer M, Isaza A, Baran J, Patel T, MacFarland SP, Brodeur GM, Stewart DR, Baloch Z, Bauer AJ, Wasserman JD, Franco AT. DICER1 RNase IIIb domain mutations trigger widespread miRNA dysregulation and MAPK activation in pediatric thyroid cancer. Front Endocrinol (Lausanne). 2023 Feb 21;14:1083382. 10.3389/fendo.2023.1083382. eCollection 2023. PMID: 36896180. PMCID: Pending.

Hatton JN, Frone MN, Cox HC, Crowley SB, Hiraki S, Yokoyama NN, Abul-Husn NS, Amatruda JF, Anderson MJ, Bofill-De Ros X, Carr AG, Chao EC, Chen KS, Gu S, Higgs C, Machado J, Ritter D, Schultz KA, Soper ER, Wu MK, Mester JL, Kim J, Foulkes WD, Witkowski L, Stewart DR. Specifications of the ACMG/AMP variant curation guidelines for analysis of germline DICER1 variants. Human Mutation. Volume 2023. Article ID 9537832. PMID: 38084291. PMCID: PMC10713350.

Nelson AT, Harris AK, Watson D, Miniati D, Finch M, Kamihara J, Mitchell SG, Wilson DB, Gettinger K, Rangaswami AA, Campos JM, Lederman S, Feltis B, Vasta LM, Harney LA, Stewart DR, Dehner LP, Messinger Y, Hill DA, Schultz KAP. Type I and IR pleuropulmonary blastoma (PPB): A Report from the International PPB/DICER1 Registry. Cancer. Feb 15;129 (4): 600-613, 2023. PMID: 36541021. PMCID: Pending.

Nelson AT, Dybvik A, Mallinger P, McQuaid SW, Watson D, Harney LA, Stewart DR, Dehner LP, Messinger YH, Kunin-Batson AS, Schultz KAP. Heath-related quality of life in children and adolescents with pleuropulmonary blastoma (PPB): a report from the International PPB/DICER1 Registry. Pediatric Blood & Cancer. Apr;70(4):e30077, 2023. PMID: 36424733. PMCID: PMC9974753.

Schultz KAP, Harris AK, Nelson AT, Watson D, Lucas JT, Miniati D, Stewart DR, Hagedorn KN, Harney LA, Doros L, Galindo CR, Priest JR, Bisogno G, Dehner LP, Hill DA, Messinger Y. Outcomes for children with types II and III pleuropulmonary blastoma (PPB) following chemotherapy: a report from the International PPB/DICER1 Registry. Journal of Clinical Oncology. 41(4):778-789, 2023. PMID: 36137255. PMCID: PMC9901992.

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.

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.

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.