DICER1 syndrome

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DICER1 syndrome is characterized by mutations in the DICER1 gene.

Conditions associated with the syndrome include:



  1. 1.0 1.1 van Engelen, K.; Villani, A.; Wasserman, JD.; Aronoff, L.; Greer, MC.; Tijerin Bueno, M.; Gallinger, B.; Kim, RH. et al. (Jan 2018). "DICER1 syndrome: Approach to testing and management at a large pediatric tertiary care center.". Pediatr Blood Cancer 65 (1). doi:10.1002/pbc.26720. PMID 28960912.
  2. Bueno, MT.; Martínez-Ríos, C.; la Puente Gregorio, A.; Ahyad, RA.; Villani, A.; Druker, H.; van Engelen, K.; Gallinger, B. et al. (Sep 2017). "Pediatric imaging in DICER1 syndrome.". Pediatr Radiol 47 (10): 1292-1301. doi:10.1007/s00247-017-3875-0. PMID 28474256.
  3. de Kock, L.; Terzic, T.; McCluggage, WG.; Stewart, CJR.; Shaw, P.; Foulkes, WD.; Clarke, BA. (Sep 2017). "DICER1 Mutations Are Consistently Present in Moderately and Poorly Differentiated Sertoli-Leydig Cell Tumors.". Am J Surg Pathol 41 (9): 1178-1187. doi:10.1097/PAS.0000000000000895. PMID 28654427.
  4. Cajaiba MM, Khanna G, Smith EA, Gellert L, Chi YY, Mullen EA, Hill DA, Geller JI, Dome JS, Perlman EJ (February 2016). "Pediatric cystic nephromas: distinctive features and frequent DICER1 mutations". Hum Pathol 48: 81–7. doi:10.1016/j.humpath.2015.08.022. PMC 4979561. PMID 26772403. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4979561/.
  5. Fernández-Martínez L, Villegas JA, Santamaría Í, Pitiot AS, Alvarado MG, Fernández S, Torres H, Paredes Á, Blay P, Balbín M (February 2017). "Identification of somatic and germ-line DICER1 mutations in pleuropulmonary blastoma, cystic nephroma and rhabdomyosarcoma tumors within a DICER1 syndrome pedigree". BMC Cancer 17 (1): 146. doi:10.1186/s12885-017-3136-5. PMC 5320664. PMID 28222777. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5320664/.
  6. Apellaniz-Ruiz M, McCluggage WG, Foulkes WD (March 2021). "DICER1-associated embryonal rhabdomyosarcoma and adenosarcoma of the gynecologic tract: Pathology, molecular genetics, and indications for molecular testing". Genes Chromosomes Cancer 60 (3): 217–233. doi:10.1002/gcc.22913. PMID 33135284.
  7. Yang K, Wang J, Kanwar N, Villani A, Ajani O, Fleming A, Patil V, Mamatjan Y, Wei Q, Malkin D, Shlien A, Zadeh G, Provias J (October 2022). "A primary DICER1-sarcoma with KRAS and TP53 mutations in a child with suspected ECCL". Brain Tumor Pathol 39 (4): 225–231. doi:10.1007/s10014-022-00437-2. PMID 35668302.
  8. McCluggage WG, Foulkes WD (December 2021). "DICER1-sarcoma: an emerging entity". Mod Pathol 34 (12): 2096–2097. doi:10.1038/s41379-021-00935-2. PMID 34642426.