|Title:||Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum||Authors:||Lee C.-T.
|Issue Date:||2019||Publisher:||Wiley-Liss Inc.||Journal Volume:||179||Journal Issue:||9||Start page/Pages:||1878-1883||Source:||American Journal of Medical Genetics, Part A||Abstract:||
Pancreatoblastoma is a rare type of pancreatic cancer in children. Here, we describe a case in which Beckwith-Wiedemann syndrome (BWS) was first suspected because of placental mesenchymal dysplasia. Although the baby did not show the stigmata characteristic of BWS or abnormal peripheral blood methylation, she developed a massive pancreatoblastoma 2 months later. She survived after partial excision of the tumor and chemotherapy. The methylation pattern of the pancreatoblastoma tissue was typical of BWS. Single nucleotide polymorphism (SNP) array analyzes revealed that the pancreatoblastoma tissue had genome-wide loss of maternal alleles. Peripheral blood and nontumor pancreatic tissue showed normal biparental genomic contribution. Interphase fluorescence in situ hybridization analysis with centromeric probes for chromosomes 2 and 11 revealed haploid pancreatoblastoma cells, whereas the placental mesenchymal dysplasia tissue and nontumor pancreas tissue showed diploidy. SNP genotype analysis suggested the presence of mosaicism with the pancreatoblastoma tissue having a different paternal haplotype than that of the peripheral blood and nontumor pancreatic tissue. We report for the first time mosaic paternal haploidy associated with pancreatoblastoma. Babies with placental mesenchymal dysplasia, even those without a definitive diagnosis of BWS, need to be closely followed for the occurrence of embryonic tumors. ? 2019 Wiley Periodicals, Inc.
|ISSN:||1552-4825||DOI:||10.1002/ajmg.a.61276||metadata.dc.subject.other:||alpha fetoprotein; antineoplastic agent; abdominal distension; alpha fetoprotein blood level; Article; Beckwith Wiedemann syndrome; cancer chemotherapy; case report; clinical article; computer assisted tomography; dysplasia; dyspnea; female; fluorescence in situ hybridization; follow up; haploidy; hepatoblastoma; histology; human; human cell; human tissue; hyperbilirubinemia; hyperinsulinemia; hypoglycemia; infant; laparotomy; liver cyst; mosaicism; multiplex ligation dependent probe amplification; nuclear magnetic resonance imaging; pancreas cancer; pancreatoblastoma; placental mesenchymal dysplasia; priority journal; single nucleotide polymorphism; vomiting; Beckwith Wiedemann syndrome; chromosome 11; chromosome 2; DNA methylation; genetics; genotype; haploidy; mesoderm; newborn; pancreas tumor; paternal inheritance; pathology; pathophysiology; placenta; pregnancy; uniparental disomy; Beckwith-Wiedemann Syndrome; Chromosomes, Human, Pair 11; Chromosomes, Human, Pair 2; DNA Methylation; Female; Genotype; Haploidy; Humans; In Situ Hybridization, Fluorescence; Infant; Infant, Newborn; Mesoderm; Mosaicism; Pancreatic Neoplasms; Paternal Inheritance; Placenta; Polymorphism, Single Nucleotide; Pregnancy; Uniparental Disomy
|Appears in Collections:||醫學系|
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