Paternal uniparental isodisomy of tyrosine hydroxylase locus at chromosome 11p15.4: spectrum of phenotypical presentations simulating hydatidiform moles
| Autor: | Lisa Barroilhet, Pei Hui, Xingzheng Zheng, Stephanie M. McGregor, Natalia Buza |
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| Rok vydání: | 2019 |
| Předmět: |
Adult
Male 0301 basic medicine Vincristine Pathology medicine.medical_specialty Tyrosine 3-Monooxygenase Locus (genetics) Biology Pathology and Forensic Medicine 03 medical and health sciences 0302 clinical medicine Pregnancy Antineoplastic Combined Chemotherapy Protocols Biomarkers Tumor medicine Homologous chromosome Humans Genetic Predisposition to Disease Cyclophosphamide Etoposide Cytotrophoblast Tyrosine hydroxylase Chromosomes Human Pair 11 Chromosome Hydatidiform Mole Uniparental Disomy medicine.disease Uniparental disomy Methotrexate Phenotype Treatment Outcome 030104 developmental biology medicine.anatomical_structure Uniparental Isodisomy Genetic Loci 030220 oncology & carcinogenesis Uterine Neoplasms embryonic structures Dactinomycin Female Abortion Missed medicine.drug |
| Zdroj: | Modern Pathology. 32:1180-1188 |
| ISSN: | 0893-3952 |
| Popis: | Uniparental disomy is an abnormal genetic condition in which both homologous chromosomes or part of the chromosome are inherited from one parent and the other parent's homologous chromosome is lost. We report three cases of gestations with paternal uniparental isodisomy at tyrosine hydroxylase or TH01 locus on chromosome 11p15.4 identified by DNA genotyping. The patients' age ranged from 32 to 35 years and all patients presented with missed abortion during the first trimester. Abnormal chorionic villi were seen in all cases with histomorphological and/or p57 immunohistochemical features simulating either partial or complete mole. While two patients had an uneventful clinical course, one patient presented with clinical complications simulating persistent gestational trophoblastic disease/neoplasia that required multiagent chemotherapy with etoposide, methotrexate, actinomycin D, vincristine, and cyclophosphamide (EMA-CO). In summary, paternal uniparental isodisomy of tyrosine hydroxylase locus at chromosome 11p15.4 may result in an abnormal gestation that simulates a hydatidiform mole both clinically and histologically. The presence of abnormal trophoblastic proliferation combined with loss of p57 expression in villous cytotrophoblast and stromal cells may be associated with an aggressive clinical behavior. |
| Databáze: | OpenAIRE |
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