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Imaging of DICER1 syndrome.
Guillerman RP, Foulkes WD, Priest JR. Guillerman RP, et al. Pediatr Radiol. 2019 Oct;49(11):1488-1505. doi: 10.1007/s00247-019-04429-x. Epub 2019 Oct 16. Pediatr Radiol. 2019. PMID: 31620849 Review.
DICER1 syndrome is a highly pleiotropic tumor predisposition syndrome that has been increasingly recognized in the last 10 years. ...Radiologists are often the first practitioners to observe these diverse manifestations and play a primary role in recognizing DICER1 …
DICER1 syndrome is a highly pleiotropic tumor predisposition syndrome that has been increasingly recognized in the last 10 years. ... …
DICER1-sarcoma: an emerging entity.
McCluggage WG, Foulkes WD. McCluggage WG, et al. Mod Pathol. 2021 Dec;34(12):2096-2097. doi: 10.1038/s41379-021-00935-2. Epub 2021 Oct 12. Mod Pathol. 2021. PMID: 34642426 Free article. No abstract available.
Genomic characterization of DICER1-associated neoplasms uncovers molecular classes.
Kommoss FKF, Chong AS, Chong AL, Pfaff E, Jones DTW, Hiemcke-Jiwa LS, Kester LA, Flucke U, Gessler M, Schrimpf D, Sahm F, Clarke BA, Stewart CJR, Wang Y, Gilks CB, Kommoss F, Huntsman DG, Schüller U, Koelsche C, McCluggage WG, von Deimling A, Foulkes WD. Kommoss FKF, et al. Nat Commun. 2023 Mar 25;14(1):1677. doi: 10.1038/s41467-023-37092-w. Nat Commun. 2023. PMID: 36966138 Free PMC article.
Here we identify a group of mesenchymal tumors which is highly associated with DICER1 syndrome, and molecularly distinct from other DICER1-associated tumors. This group of DICER1-associated mesenchymal tumors encompasses multiple well-established clinicopatho …
Here we identify a group of mesenchymal tumors which is highly associated with DICER1 syndrome, and molecularly distinct from other …
DICER1 gene mutations in endocrine tumors.
Solarski M, Rotondo F, Foulkes WD, Priest JR, Syro LV, Butz H, Cusimano MD, Kovacs K. Solarski M, et al. Endocr Relat Cancer. 2018 Mar;25(3):R197-R208. doi: 10.1530/ERC-17-0509. Epub 2018 Jan 12. Endocr Relat Cancer. 2018. PMID: 29330195 Review.
In this review, the importance of the DICER1 gene in the function of endocrine cells is discussed. There is conclusive evidence that DICER1 mutations play a crucial role in the development, progression, cell proliferation, therapeutic responsiveness and behavior of …
In this review, the importance of the DICER1 gene in the function of endocrine cells is discussed. There is conclusive evidence that …
DICER1: mutations, microRNAs and mechanisms.
Foulkes WD, Priest JR, Duchaine TF. Foulkes WD, et al. Nat Rev Cancer. 2014 Oct;14(10):662-72. doi: 10.1038/nrc3802. Epub 2014 Sep 1. Nat Rev Cancer. 2014. PMID: 25176334 Review.
Most recently, both germline and somatic mutations in DICER1 have been identified in diverse types of cancer. Although some of the mutations clearly reduce the dosage of this key enzyme, others dictate surprisingly specific changes in select classes of small RNAs. ...
Most recently, both germline and somatic mutations in DICER1 have been identified in diverse types of cancer. Although some of the mu …
Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation.
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. Hatton JN, et al. Hum Mutat. 2023;2023:9537832. doi: 10.1155/2023/9537832. Epub 2023 Mar 29. Hum Mutat. 2023. PMID: 38084291 Free PMC article.
Germline pathogenic variants in DICER1 predispose individuals to develop a variety of benign and malignant tumors. Accurate variant curation and classification is essential for reliable diagnosis of DICER1-related tumor predisposition and identification of individua …
Germline pathogenic variants in DICER1 predispose individuals to develop a variety of benign and malignant tumors. Accurate variant c …
Update on Cancer Predisposition Syndromes and Surveillance Guidelines for Childhood Brain Tumors.
Hansford JR, Das A, McGee RB, Nakano Y, Brzezinski J, Scollon SR, Rednam SP, Schienda J, Michaeli O, Kim SY, Greer MC, Weksberg R, Stewart DR, Foulkes WD, Tabori U, Pajtler KW, Pfister SM, Brodeur GM, Kamihara J. Hansford JR, et al. Clin Cancer Res. 2024 Jun 3;30(11):2342-2350. doi: 10.1158/1078-0432.CCR-23-4033. Clin Cancer Res. 2024. PMID: 38573059 Free PMC article. Review.
Some children with brain tumors may present with nonmalignant phenotypic features of specific syndromes (e.g., nevoid basal cell carcinoma syndrome, neurofibromatosis type 1 and type 2, DICER1 syndrome, and constitutional mismatch-repair deficiency), while others may prese …
Some children with brain tumors may present with nonmalignant phenotypic features of specific syndromes (e.g., nevoid basal cell carcinoma s …
DICER1-associated embryonal rhabdomyosarcoma and adenosarcoma of the gynecologic tract: Pathology, molecular genetics, and indications for molecular testing.
Apellaniz-Ruiz M, McCluggage WG, Foulkes WD. Apellaniz-Ruiz M, et al. Genes Chromosomes Cancer. 2021 Mar;60(3):217-233. doi: 10.1002/gcc.22913. Epub 2020 Nov 19. Genes Chromosomes Cancer. 2021. PMID: 33135284 Review.
Importantly, DICER1-associated sarcomas share morphological features irrespective of the site of origin such that the pathologist can strongly suspect a DICER1 association. ...Given that germline pathogenic DICER1 variants are frequent in uterine (corpus and …
Importantly, DICER1-associated sarcomas share morphological features irrespective of the site of origin such that the pathologist can …
PRAME protein expression in DICER1-related tumours.
Thorner PS, Chong AS, Nadaf J, Benlimame N, Marrano P, Chami R, Fu L, Foulkes WD. Thorner PS, et al. J Pathol Clin Res. 2022 May;8(3):294-304. doi: 10.1002/cjp2.264. Epub 2022 Mar 16. J Pathol Clin Res. 2022. PMID: 35297207 Free PMC article.
DICER1 syndrome is an autosomal dominant tumour predisposition syndrome usually affecting persons under 30 years of age. ...Therapy directed against PRAME may offer novel treatment options in patients with the DICER1 syndrome....
DICER1 syndrome is an autosomal dominant tumour predisposition syndrome usually affecting persons under 30 years of age. ...Therapy d …
Gynecologic Manifestations of the DICER1 Syndrome.
Stewart CJ, Charles A, Foulkes WD. Stewart CJ, et al. Surg Pathol Clin. 2016 Jun;9(2):227-41. doi: 10.1016/j.path.2016.01.002. Epub 2016 Apr 9. Surg Pathol Clin. 2016. PMID: 27241106 Review.
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 some cases, these are the sentinel neoplasms. DICER1-associated tumors may have distinctive morphol …
Patients with germline DICER1 mutations are at increased risk of developing a wide range of tumors, most of which are relatively rare …
107 results