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Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith-Wiedemann spectrum.

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.

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  • Authors+Show Affiliations

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    Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan. Graduate Institute of Clinical Medicine, National Taiwan University College of Medicine, Taipei, Taiwan.

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    Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.

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    Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan. Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.

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    Department of Obstetrics and Gynecology, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.

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    Department of Surgery, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.

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    Department of Pathology, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.

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    Department of Pathology, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.

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    Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan. Department of Laboratory Medicine, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.

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    Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.

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    Department of Medical Research, Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan. Department of Genomic Medicine, Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan. Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan.

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    Department of Research and Development, Sofiva Genomics Co., Ltd., Taipei, Taiwan. Department of Gynecology and Maternity, Dianthus Maternal Fetal Medicine Clinic, Taipei, Taiwan. Department of Obstetrics and Gynecology, School of Medicine, Taipei Medical University, Taipei, Taiwan.

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    Genetics Generation Advancement Corp. (GGA Corp.), Taipei, Taiwan.

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    Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.

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    Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.

    Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan. Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.

    Source

    Pub Type(s)

    Case Reports

    Language

    eng

    PubMed ID

    31231953

    Citation

    Lee, Cheng-Ting, et al. "Mosaic Paternal Haploidy in a Patient With Pancreatoblastoma and Beckwith-Wiedemann Spectrum." American Journal of Medical Genetics. Part A, 2019.
    Lee CT, Tung YC, Hwu WL, et al. Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith-Wiedemann spectrum. Am J Med Genet A. 2019.
    Lee, C. T., Tung, Y. C., Hwu, W. L., Shih, J. C., Lin, W. H., Wu, M. Z., ... Lee, N. C. (2019). Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith-Wiedemann spectrum. American Journal of Medical Genetics. Part A, doi:10.1002/ajmg.a.61276.
    Lee CT, et al. Mosaic Paternal Haploidy in a Patient With Pancreatoblastoma and Beckwith-Wiedemann Spectrum. Am J Med Genet A. 2019 Jun 24; PubMed PMID: 31231953.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith-Wiedemann spectrum. AU - Lee,Cheng-Ting, AU - Tung,Yi-Ching, AU - Hwu,Wuh-Liang, AU - Shih,Jin-Chung, AU - Lin,Wen-Hsi, AU - Wu,Mu-Zon, AU - Kuo,Kuan-Ting, AU - Yang,Yung-Li, AU - Chen,Huey-Ling, AU - Chen,Ming, AU - Su,Yi-Ning, AU - Jong,Yiin-Jeng, AU - Liu,Shih-Yao, AU - Tsai,Wen-Yu, AU - Lee,Ni-Chung, Y1 - 2019/06/24/ PY - 2018/12/24/received PY - 2019/06/01/revised PY - 2019/06/11/accepted PY - 2019/6/25/entrez KW - Beckwith-Wiedemann syndrome KW - haploidy KW - mosaic paternal unidiploidy KW - pancreatoblastoma KW - spectrum JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A N2 - 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. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/31231953/Mosaic_paternal_haploidy_in_a_patient_with_pancreatoblastoma_and_Beckwith-Wiedemann_spectrum L2 - https://doi.org/10.1002/ajmg.a.61276 DB - PRIME DP - Unbound Medicine ER -