Back to Search
Start Over
Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith-Wiedemann spectrum
- Source :
- American Journal of Medical Genetics Part A. 179:1878-1883
- Publication Year :
- 2019
- Publisher :
- Wiley, 2019.
-
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.
- Subjects :
- 0301 basic medicine
Pathology
medicine.medical_specialty
Beckwith-Wiedemann Syndrome
Genotype
Placenta
Beckwith–Wiedemann syndrome
Pancreatoblastoma
Haploidy
030105 genetics & heredity
Biology
Polymorphism, Single Nucleotide
Placental Mesenchymal Dysplasia
Mesoderm
03 medical and health sciences
Pregnancy
Pancreatic cancer
Genetics
medicine
Humans
Allele
In Situ Hybridization, Fluorescence
Genetics (clinical)
medicine.diagnostic_test
Mosaicism
Chromosomes, Human, Pair 11
Haplotype
Infant, Newborn
Infant
DNA Methylation
Uniparental Disomy
medicine.disease
Pancreatic Neoplasms
030104 developmental biology
medicine.anatomical_structure
Chromosomes, Human, Pair 2
Paternal Inheritance
Female
Pancreas
Fluorescence in situ hybridization
Subjects
Details
- ISSN :
- 15524825
- Volume :
- 179
- Database :
- OpenAIRE
- Journal :
- American Journal of Medical Genetics Part A
- Accession number :
- edsair.doi.dedup.....3e02c8326b2ebdbe256fca8c7512ddb7