Difference between revisions of "DICER1 syndrome"
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*[[Pineoblastoma]].<ref name=pmid28960912/> | *[[Pineoblastoma]].<ref name=pmid28960912/> | ||
*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> | *[[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> | ||
==References== | ==References== | ||
Revision as of 15:43, 10 March 2022
DICER1 syndrome is characterized by mutations in the DICER1 gene.
Conditions associated with the syndrome include:
- Pleuropulmonary blastoma (PPB).[1]
- Pineoblastoma.[1]
- Ovarian Sertoli-Leydig cell tumour.[2][3]
- Cystic nephroma, pediatric type.[4][5]
References
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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/.
- ↑ 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/.