High-Risk Gestational Trophoblastic Neoplasia from a Homozygous NLRP7 Mutation

• NLRP7 germline mutation can result in high risk gestational trophoblastic neoplasia. • No successful reproductive outcomes have been reported with homozygous NLRP7 mutation. • Germline testing should be considered for patients presenting with recurrent gestational trophoblastic disease. • Once an...

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Detalles Bibliográficos
Autores principales: Kopelman, Zachary A., Hope, Erica R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Case Reports and Case Series
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8215180/
https://www.ncbi.nlm.nih.gov/pubmed/34189227
http://dx.doi.org/10.1016/j.gore.2021.100803
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author Kopelman, Zachary A.
Hope, Erica R.
author_facet Kopelman, Zachary A.
Hope, Erica R.
author_sort Kopelman, Zachary A.
collection PubMed
description • NLRP7 germline mutation can result in high risk gestational trophoblastic neoplasia. • No successful reproductive outcomes have been reported with homozygous NLRP7 mutation. • Germline testing should be considered for patients presenting with recurrent gestational trophoblastic disease. • Once an NLRP7 mutation is diagnosed, consultation with reproductive endocrinology is necessary to discuss future fertility. • Further research is needed in rare cases regarding gestational trophoblastic neoplasia recurrence and reproductive outcomes.
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spelling pubmed-82151802021-06-28 High-Risk Gestational Trophoblastic Neoplasia from a Homozygous NLRP7 Mutation Kopelman, Zachary A. Hope, Erica R. Gynecol Oncol Rep Case Reports and Case Series • NLRP7 germline mutation can result in high risk gestational trophoblastic neoplasia. • No successful reproductive outcomes have been reported with homozygous NLRP7 mutation. • Germline testing should be considered for patients presenting with recurrent gestational trophoblastic disease. • Once an NLRP7 mutation is diagnosed, consultation with reproductive endocrinology is necessary to discuss future fertility. • Further research is needed in rare cases regarding gestational trophoblastic neoplasia recurrence and reproductive outcomes. Elsevier 2021-06-06 /pmc/articles/PMC8215180/ /pubmed/34189227 http://dx.doi.org/10.1016/j.gore.2021.100803 Text en https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Reports and Case Series
Kopelman, Zachary A.
Hope, Erica R.
High-Risk Gestational Trophoblastic Neoplasia from a Homozygous NLRP7 Mutation
title High-Risk Gestational Trophoblastic Neoplasia from a Homozygous NLRP7 Mutation
title_full High-Risk Gestational Trophoblastic Neoplasia from a Homozygous NLRP7 Mutation
title_fullStr High-Risk Gestational Trophoblastic Neoplasia from a Homozygous NLRP7 Mutation
title_full_unstemmed High-Risk Gestational Trophoblastic Neoplasia from a Homozygous NLRP7 Mutation
title_short High-Risk Gestational Trophoblastic Neoplasia from a Homozygous NLRP7 Mutation
title_sort high-risk gestational trophoblastic neoplasia from a homozygous nlrp7 mutation
topic Case Reports and Case Series
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8215180/
https://www.ncbi.nlm.nih.gov/pubmed/34189227
http://dx.doi.org/10.1016/j.gore.2021.100803
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