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A novel NLRP7 protein-truncating mutation associated with discordant and divergent p57 immunostaining in diploid biparental and triploid digynic moles.
- Source :
-
Virchows Archiv : an international journal of pathology [Virchows Arch] 2020 Aug; Vol. 477 (2), pp. 309-315. Date of Electronic Publication: 2020 Feb 13. - Publication Year :
- 2020
-
Abstract
- NLRP7 is a maternal-effect gene that has a primary role in the oocyte. Its biallelic mutations are a major cause for recurrent diploid biparental hydatidiform moles (HMs). Here, we describe the full characterization of four HMs from a patient with a novel homozygous protein-truncating mutation in NLRP7. We found that some HMs have features of both complete and partial moles. Two HMs expressed p57 in the cytotrophoblast and stromal cells and exhibited divergent and discordant immunostaining. Microsatellite DNA-genotyping demonstrated that two HMs are diploid biparental and one is triploid digynic due to the failure of meiosis II. FISH analysis demonstrated triploidy in the cytotrophoblast and stromal cells in all villi. Our data highlight the atypical features of HM from patients with recessive NLRP7 mutations and the important relationship between NLRP7 defects in the oocyte and p57 expression that appear to be the main contributor to the molar phenotype regardless of the zygote genotype.
- Subjects :
- Adaptor Proteins, Signal Transducing genetics
Female
Genotype
Gestational Trophoblastic Disease
Humans
Hydatidiform Mole genetics
Mutation genetics
Neoplasm Recurrence, Local genetics
Nevus, Pigmented genetics
Phenotype
Pregnancy
Adaptor Proteins, Signal Transducing metabolism
Cyclin-Dependent Kinase Inhibitor p57 metabolism
Hydatidiform Mole metabolism
Neoplasm Recurrence, Local metabolism
Uterine Neoplasms metabolism
Subjects
Details
- Language :
- English
- ISSN :
- 1432-2307
- Volume :
- 477
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Virchows Archiv : an international journal of pathology
- Publication Type :
- Academic Journal
- Accession number :
- 32055942
- Full Text :
- https://doi.org/10.1007/s00428-020-02769-w