Difference between revisions of "DICER1 syndrome"

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'''DICER1 syndrome''' is characterized by mutations in the DICER1 gene.
'''DICER1 syndrome''' is characterized by mutations in the DICER1 gene.


Tumour associated with the syndrome include:
Conditions associated with the syndrome include:
*[[Pleuropulmonary blastoma]] (PPB).<ref name=pmid28960912>{{Cite journal  | last1 = van Engelen | first1 = K. | last2 = Villani | first2 = A. | last3 = Wasserman | first3 = JD. | last4 = Aronoff | first4 = L. | last5 = Greer | first5 = MC. | last6 = Tijerin Bueno | first6 = M. | last7 = Gallinger | first7 = B. | last8 = Kim | first8 = RH. | last9 = Grant | first9 = R. | title = DICER1 syndrome: Approach to testing and management at a large pediatric tertiary care center. | journal = Pediatr Blood Cancer | volume = 65 | issue = 1 | pages =  | month = Jan | year = 2018 | doi = 10.1002/pbc.26720 | PMID = 28960912 }}</ref>  
*[[Pleuropulmonary blastoma]] (PPB).<ref name=pmid28960912>{{Cite journal  | last1 = van Engelen | first1 = K. | last2 = Villani | first2 = A. | last3 = Wasserman | first3 = JD. | last4 = Aronoff | first4 = L. | last5 = Greer | first5 = MC. | last6 = Tijerin Bueno | first6 = M. | last7 = Gallinger | first7 = B. | last8 = Kim | first8 = RH. | last9 = Grant | first9 = R. | title = DICER1 syndrome: Approach to testing and management at a large pediatric tertiary care center. | journal = Pediatr Blood Cancer | volume = 65 | issue = 1 | pages =  | month = Jan | year = 2018 | doi = 10.1002/pbc.26720 | PMID = 28960912 }}</ref>  
*[[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>
*[[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==

Latest revision as of 12:49, 24 March 2024

DICER1 syndrome is characterized by mutations in the DICER1 gene.

Conditions associated with the syndrome include:

Others:

References

  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.
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