High-Risk Gestational Trophoblastic Neoplasia from a Homozygous NLRP7 Mutation
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Abstract:
• 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.Keywords:
Gestational trophoblastic neoplasia
Gestational Trophoblastic Disease
Gestational trophoblastic neoplasia
Gestational Trophoblastic Disease
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Germline mutation analysis was performed in 469 VHL families from North America, Europe, and Japan. Germline mutations were identified in 300/469 (63%) of the families tested; 137 distinct intragenic germline mutations were detected. Most of the germline VHL mutations (124/137) occurred in 1-2 families; a few occured in four or more families. The common germline VHL mutations were: delPhe76, Asn78Ser, Arg161Stop, Arg167Gln, Arg167Trp, and Leu178Pro. In this large series, it was possible to compare the effects of identical germline mutations in different populations. Germline VHL mutations produced similar cancer phenotypes in Caucasian and Japanese VHL families. Germline VHL mutations were identified that produced three distinct cancer phenotypes: (1) renal carcinoma without pheochromocytoma, (2) renal carcinoma with pheochromocytoma, and (3) pheochromocytoma alone. The catalog of VHL germline mutations with phenotype information should be useful for diagnostic and prognostic studies of VHL and for studies of genotype-phenotype correlations in VHL.
Von Hippel–Lindau disease
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Gestational trophoblastic neoplasia (GTN), a subset of gestational trophoblastic disease (GTD), occurs when tumors develop in the cells that would normally form the placenta during pregnancy. The NCCN Guidelines for Gestational Trophoblastic Neoplasia provides treatment recommendations for various types of GTD including hydatidiform mole, persistent post-molar GTN, low-risk GTN, high-risk GTN, and intermediate trophoblastic tumor.
Gestational trophoblastic neoplasia
Gestational Trophoblastic Disease
Trophoblastic Tumor
Molar Pregnancy
Clinical Practice
Gynecologic oncology
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Gestational trophoblastic disease is a spectrum of disorders ranging from premalignant hydatidiform moles through to malignant invasive moles, choriocarcinoma and rare placental site trophoblastic tumor. The latter are often collectively referred to as gestational trophoblastic tumors or neoplasia (GTN). Although most women can expect to be cured of their disease, many interesting questions arise in the management of gestational trophoblastic disease. Current issues pertain to diagnosis of GTN, predicting progression from hydatidiform moles to GTN and the emergence of drug resistance in GTN. Our understanding of the genetics of GTN has helped us answer some of these questions but many remain unresolved. This article seeks to address recent advances in the genetics of GTN in relation to diagnosis, etiology, prognosis and treatment.
Gestational trophoblastic neoplasia
Gestational Trophoblastic Disease
Etiology
Trophoblastic neoplasm
Trophoblastic Tumor
Trophoblast
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Gestational Trophoblastic Disease
Gestational trophoblastic neoplasia
Trophoblastic Tumor
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Germline mutation analysis was performed in 469 VHL families from North America, Europe, and Japan. Germline mutations were identified in 300/469 (63%) of the families tested; 137 distinct intragenic germline mutations were detected. Most of the germline VHL mutations (124/137) occurred in 1–2 families; a few occured in four or more families. The common germline VHL mutations were: delPhe76, Asn78Ser, Arg161Stop, Arg167Gln, Arg167Trp, and Leu178Pro. In this large series, it was possible to compare the effects of identical germline mutations in different populations. Germline VHL mutations produced similar cancer phenotypes in Caucasian and Japanese VHL families. Germline VHL mutations were identified that produced three distinct cancer phenotypes: (1) renal carcinoma without pheochromocytoma, (2) renal carcinoma with pheochromocytoma, and (3) pheochromocytoma alone. The catalog of VHL germline mutations with phenotype information should be useful for diagnostic and prognostic studies of VHL and for studies of genotype-phenotype correlations in VHL. © 1996 Wiley-Liss, Inc.
Von Hippel–Lindau disease
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Abstract The germline mutation rate has been extensively studied and has been found to vary greatly between species, but much less is known about the somatic mutation rate in multicellular organisms, which remains very difficult to determine. Here, we present data on somatic mutation rates in mice and humans, obtained by sequencing single cells and clones derived from primary fibroblasts, which allows us to make the first direct comparison with germline mutation rates in these two species. The results indicate that the somatic mutation rate is almost two orders of magnitude higher than the germline mutation rate and that both mutation rates are significantly higher in mice than in humans. Our findings demonstrate both the privileged status of germline genome integrity and species-specific differences in genome maintenance.
Multicellular organism
Mutation Accumulation
Germline mosaicism
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( Obstet Gynecol . 2021;137:355–370) Gestational trophoblastic disease (GTD) refers to rare disease processes originating from the placenta that require timely and appropriate management. GTD includes partial or complete hydatidiform moles (HM), as well as severe gestational trophoblastic neoplasia (GTN) and related tumors. Obstetrician-gynecologists are more likely to be involved in the care of women with HM or who have unclear diagnosis related to human chorionic gonadotropin (hCG).
Gestational Trophoblastic Disease
Gestational trophoblastic neoplasia
Human chorionic gonadotropin
Expectant management
Partial Hydatidiform Mole
Placenta Diseases
Gonadotropin
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This review summarizes the current evaluation and management of gestational trophoblastic disease, including evacuation of hydatidiform moles, surveillance after evacuation of hydatidiform mole and the diagnosis and management of gestational trophoblastic neoplasia. Most women with gestational trophoblastic disease can be successfully managed with preservation of reproductive function. It is important to manage molar pregnancies properly to minimize acute complications and to identify gestational trophoblastic neoplasia promptly. Current International Federation of Gynecology and Obstetrics guidelines for making the diagnosis and staging of gestational trophoblastic neoplasia allow uniformity for reporting results of treatment. It is important to individualize treatment based on their risk factors, using less toxic therapy for patients with low-risk disease and aggressive multiagent therapy for patients with high-risk disease. Patients with gestational trophoblastic neoplasia should be managed in consultation with an individual experienced in the complex, multimodality treatment of these patients.
Gestational trophoblastic neoplasia
Gestational Trophoblastic Disease
Molar Pregnancy
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Brief Summary: This study investigated the mutational background of somatic cells and rates of mutation in 29 distinct anatomical structures and compared these with the male germline from the same donor. The rate of mutation was lowest in spermatogonia.
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