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Presacral malignant teratoid neoplasm in association with pathogenic DICER1 variation
We report two malignant sacrococcygeal tumors in infants that were associated with pathogenic DICER1 variation. These tumors were composed of primitive neuroepithelium, embryonal rhabdomyosarcoma and cartilage and initially diagnosed as immature teratomas. One child developed intracranial metastasis...
Autores principales: | , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6881536/ https://www.ncbi.nlm.nih.gov/pubmed/31296931 http://dx.doi.org/10.1038/s41379-019-0319-4 |
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author | Nakano, Yoshiko Hasegawa, Daiichiro Stewart, Douglas R. Schultz, Kris Ann P. Harris, Anne K. Hirato, Junko Uemura, Suguru Tamura, Akihiro Saito, Atsuro Kawamura, Atsufumi Yoshida, Makiko Yamasaki, Kai Yamashita, Satoshi Ushijima, Toshikazu Kosaka, Yoshiyuki Ichimura, Koichi Dehner, Louis P. Hill, D. Ashley |
author_facet | Nakano, Yoshiko Hasegawa, Daiichiro Stewart, Douglas R. Schultz, Kris Ann P. Harris, Anne K. Hirato, Junko Uemura, Suguru Tamura, Akihiro Saito, Atsuro Kawamura, Atsufumi Yoshida, Makiko Yamasaki, Kai Yamashita, Satoshi Ushijima, Toshikazu Kosaka, Yoshiyuki Ichimura, Koichi Dehner, Louis P. Hill, D. Ashley |
author_sort | Nakano, Yoshiko |
collection | PubMed |
description | We report two malignant sacrococcygeal tumors in infants that were associated with pathogenic DICER1 variation. These tumors were composed of primitive neuroepithelium, embryonal rhabdomyosarcoma and cartilage and initially diagnosed as immature teratomas. One child developed intracranial metastasis and died. The second child underwent surgery and chemotherapy and achieved complete remission. This child subsequently developed five additional DICER1-associated neoplasms by age nine. Genetic analysis revealed that both tumors harbored biallelic pathogenic DICER1 variation. We believe these cases represent another novel subtype of DICER1-associated tumor. This new entity, which we propose to call DICER1-associated presacral malignant teratoid neoplasm, may be difficult initially to distinguish from immature teratoma, but recognizing it as an entity can facilitate appropriate classification as an aggressive malignancy and facilitate appropriate genetic counseling, DICER1 germline variant testing, screening and education. |
format | Online Article Text |
id | pubmed-6881536 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
record_format | MEDLINE/PubMed |
spelling | pubmed-68815362020-01-11 Presacral malignant teratoid neoplasm in association with pathogenic DICER1 variation Nakano, Yoshiko Hasegawa, Daiichiro Stewart, Douglas R. Schultz, Kris Ann P. Harris, Anne K. Hirato, Junko Uemura, Suguru Tamura, Akihiro Saito, Atsuro Kawamura, Atsufumi Yoshida, Makiko Yamasaki, Kai Yamashita, Satoshi Ushijima, Toshikazu Kosaka, Yoshiyuki Ichimura, Koichi Dehner, Louis P. Hill, D. Ashley Mod Pathol Article We report two malignant sacrococcygeal tumors in infants that were associated with pathogenic DICER1 variation. These tumors were composed of primitive neuroepithelium, embryonal rhabdomyosarcoma and cartilage and initially diagnosed as immature teratomas. One child developed intracranial metastasis and died. The second child underwent surgery and chemotherapy and achieved complete remission. This child subsequently developed five additional DICER1-associated neoplasms by age nine. Genetic analysis revealed that both tumors harbored biallelic pathogenic DICER1 variation. We believe these cases represent another novel subtype of DICER1-associated tumor. This new entity, which we propose to call DICER1-associated presacral malignant teratoid neoplasm, may be difficult initially to distinguish from immature teratoma, but recognizing it as an entity can facilitate appropriate classification as an aggressive malignancy and facilitate appropriate genetic counseling, DICER1 germline variant testing, screening and education. 2019-07-11 2019-12 /pmc/articles/PMC6881536/ /pubmed/31296931 http://dx.doi.org/10.1038/s41379-019-0319-4 Text en Users may view, print, copy, and download text and data-mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use:http://www.nature.com/authors/editorial_policies/license.html#terms |
spellingShingle | Article Nakano, Yoshiko Hasegawa, Daiichiro Stewart, Douglas R. Schultz, Kris Ann P. Harris, Anne K. Hirato, Junko Uemura, Suguru Tamura, Akihiro Saito, Atsuro Kawamura, Atsufumi Yoshida, Makiko Yamasaki, Kai Yamashita, Satoshi Ushijima, Toshikazu Kosaka, Yoshiyuki Ichimura, Koichi Dehner, Louis P. Hill, D. Ashley Presacral malignant teratoid neoplasm in association with pathogenic DICER1 variation |
title | Presacral malignant teratoid neoplasm in association with pathogenic DICER1 variation |
title_full | Presacral malignant teratoid neoplasm in association with pathogenic DICER1 variation |
title_fullStr | Presacral malignant teratoid neoplasm in association with pathogenic DICER1 variation |
title_full_unstemmed | Presacral malignant teratoid neoplasm in association with pathogenic DICER1 variation |
title_short | Presacral malignant teratoid neoplasm in association with pathogenic DICER1 variation |
title_sort | presacral malignant teratoid neoplasm in association with pathogenic dicer1 variation |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6881536/ https://www.ncbi.nlm.nih.gov/pubmed/31296931 http://dx.doi.org/10.1038/s41379-019-0319-4 |
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