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Difference between revisions of "DICER1 syndrome"
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*Ovarian [[Sertoli-Leydig cell tumour]].<ref name=pmid28474256>{{Cite journal | last1 = Bueno | first1 = MT. | last2 = Martínez-Ríos | first2 = C. | last3 = la Puente Gregorio | first3 = A. | last4 = Ahyad | first4 = RA. | last5 = Villani | first5 = A. | last6 = Druker | first6 = H. | last7 = van Engelen | first7 = K. | last8 = Gallinger | first8 = B. | last9 = Aronoff | first9 = L. | title = Pediatric imaging in DICER1 syndrome. | journal = Pediatr Radiol | volume = 47 | issue = 10 | pages = 1292-1301 | month = Sep | year = 2017 | doi = 10.1007/s00247-017-3875-0 | PMID = 28474256 }}</ref><ref name=pmid28654427>{{Cite journal | last1 = de Kock | first1 = L. | last2 = Terzic | first2 = T. | last3 = McCluggage | first3 = WG. | last4 = Stewart | first4 = CJR. | last5 = Shaw | first5 = P. | last6 = Foulkes | first6 = WD. | last7 = Clarke | first7 = BA. | title = DICER1 Mutations Are Consistently Present in Moderately and Poorly Differentiated Sertoli-Leydig Cell Tumors. | journal = Am J Surg Pathol | volume = 41 | issue = 9 | pages = 1178-1187 | month = Sep | year = 2017 | doi = 10.1097/PAS.0000000000000895 | PMID = 28654427 }}</ref> | *Ovarian [[Sertoli-Leydig cell tumour]].<ref name=pmid28474256>{{Cite journal | last1 = Bueno | first1 = MT. | last2 = Martínez-Ríos | first2 = C. | last3 = la Puente Gregorio | first3 = A. | last4 = Ahyad | first4 = RA. | last5 = Villani | first5 = A. | last6 = Druker | first6 = H. | last7 = van Engelen | first7 = K. | last8 = Gallinger | first8 = B. | last9 = Aronoff | first9 = L. | title = Pediatric imaging in DICER1 syndrome. | journal = Pediatr Radiol | volume = 47 | issue = 10 | pages = 1292-1301 | month = Sep | year = 2017 | doi = 10.1007/s00247-017-3875-0 | PMID = 28474256 }}</ref><ref name=pmid28654427>{{Cite journal | last1 = de Kock | first1 = L. | last2 = Terzic | first2 = T. | last3 = McCluggage | first3 = WG. | last4 = Stewart | first4 = CJR. | last5 = Shaw | first5 = P. | last6 = Foulkes | first6 = WD. | last7 = Clarke | first7 = BA. | title = DICER1 Mutations Are Consistently Present in Moderately and Poorly Differentiated Sertoli-Leydig Cell Tumors. | journal = Am J Surg Pathol | volume = 41 | issue = 9 | pages = 1178-1187 | month = Sep | year = 2017 | doi = 10.1097/PAS.0000000000000895 | PMID = 28654427 }}</ref> | ||
*[[Cystic nephroma, pediatric type]].<ref name=pmid26772403>{{cite journal |authors=Cajaiba MM, Khanna G, Smith EA, Gellert L, Chi YY, Mullen EA, Hill DA, Geller JI, Dome JS, Perlman EJ |title=Pediatric cystic nephromas: distinctive features and frequent DICER1 mutations |journal=Hum Pathol |volume=48 |issue= |pages=81–7 |date=February 2016 |pmid=26772403 |pmc=4979561 |doi=10.1016/j.humpath.2015.08.022 |url=}}</ref><ref name=pmid28222777>{{cite journal |authors=Fernández-Martínez L, Villegas JA, Santamaría Í, Pitiot AS, Alvarado MG, Fernández S, Torres H, Paredes Á, Blay P, Balbín M |title=Identification of somatic and germ-line DICER1 mutations in pleuropulmonary blastoma, cystic nephroma and rhabdomyosarcoma tumors within a DICER1 syndrome pedigree |journal=BMC Cancer |volume=17 |issue=1 |pages=146 |date=February 2017 |pmid=28222777 |pmc=5320664 |doi=10.1186/s12885-017-3136-5 |url=}}</ref> | *[[Cystic nephroma, pediatric type]].<ref name=pmid26772403>{{cite journal |authors=Cajaiba MM, Khanna G, Smith EA, Gellert L, Chi YY, Mullen EA, Hill DA, Geller JI, Dome JS, Perlman EJ |title=Pediatric cystic nephromas: distinctive features and frequent DICER1 mutations |journal=Hum Pathol |volume=48 |issue= |pages=81–7 |date=February 2016 |pmid=26772403 |pmc=4979561 |doi=10.1016/j.humpath.2015.08.022 |url=}}</ref><ref name=pmid28222777>{{cite journal |authors=Fernández-Martínez L, Villegas JA, Santamaría Í, Pitiot AS, Alvarado MG, Fernández S, Torres H, Paredes Á, Blay P, Balbín M |title=Identification of somatic and germ-line DICER1 mutations in pleuropulmonary blastoma, cystic nephroma and rhabdomyosarcoma tumors within a DICER1 syndrome pedigree |journal=BMC Cancer |volume=17 |issue=1 |pages=146 |date=February 2017 |pmid=28222777 |pmc=5320664 |doi=10.1186/s12885-017-3136-5 |url=}}</ref> | ||
Others: | |||
*[[Embryonal rhabdomyosarcoma]].<ref>{{cite journal |authors=Apellaniz-Ruiz M, McCluggage WG, Foulkes WD |title=DICER1-associated embryonal rhabdomyosarcoma and adenosarcoma of the gynecologic tract: Pathology, molecular genetics, and indications for molecular testing |journal=Genes Chromosomes Cancer |volume=60 |issue=3 |pages=217–233 |date=March 2021 |pmid=33135284 |doi=10.1002/gcc.22913 |url=}}</ref> | |||
*Nasal chondromesenchymal hamartoma. | |||
*DICER1-sarcoma.<ref name=pmid35668302>{{cite journal |authors=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 |title=A primary DICER1-sarcoma with KRAS and TP53 mutations in a child with suspected ECCL |journal=Brain Tumor Pathol |volume=39 |issue=4 |pages=225–231 |date=October 2022 |pmid=35668302 |doi=10.1007/s10014-022-00437-2 |url=}}</ref><ref name=pmid34642426>{{cite journal |authors=McCluggage WG, Foulkes WD |title=DICER1-sarcoma: an emerging entity |journal=Mod Pathol |volume=34 |issue=12 |pages=2096–2097 |date=December 2021 |pmid=34642426 |doi=10.1038/s41379-021-00935-2 |url=}}</ref> | |||
==References== | ==References== | ||