Multiple tumors due to mosaic genome-wide paternal uniparental disomy

Floor A M Postema; Jet Bliek; Carel J M van Noesel; Laura J C M van Zutven; Jan C Oosterwijk; Saskia M J Hopman; Johannes H M Merks; Raoul C Hennekam

doi:10.1002/pbc.27715

Multiple tumors due to mosaic genome-wide paternal uniparental disomy

Floor A M Postema, Jet Bliek, Carel J M van Noesel, Laura J C M van Zutven, Jan C Oosterwijk, Saskia M J Hopman, Johannes H M Merks, Raoul C Hennekam

Group Merks

Research output: Contribution to journal › Article › peer-review

12 Citations (Scopus)

Abstract

Mosaic genome-wide paternal uniparental disomy is an infrequently described disorder in which affected individuals have signs and symptoms that may resemble Beckwith-Wiedemann syndrome. In addition, they can develop multiple benign and malignant tumors throughout life. Routine molecular diagnostics may not detect the (characteristic) low level of mosaicism, and the diagnosis is likely to be missed. Genetic counseling and a life-long alertness for the development of tumors is indicated. We describe the long diagnostic process of a patient who already had a tumor at birth and developed multiple tumors in childhood and adulthood. Furthermore, we offer clues to recognize the entity.

Original language	English
Article number	e27715
Pages (from-to)	e27715
Journal	Pediatric blood & cancer
Volume	66
Issue number	6
DOIs	https://doi.org/10.1002/pbc.27715
Publication status	Published - Mar 2019

Keywords

Adult
Beckwith-Wiedemann Syndrome/diagnosis
Chromosomes, Human/genetics
Female
Genome-Wide Association Study
Genomic Imprinting
Genotype
Humans
Infant, Newborn
Male
Mosaicism
Neoplasms/classification
Polymorphism, Single Nucleotide
Prognosis
Uniparental Disomy/diagnosis

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10.1002/pbc.27715

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title = "Multiple tumors due to mosaic genome-wide paternal uniparental disomy",

abstract = "Mosaic genome-wide paternal uniparental disomy is an infrequently described disorder in which affected individuals have signs and symptoms that may resemble Beckwith-Wiedemann syndrome. In addition, they can develop multiple benign and malignant tumors throughout life. Routine molecular diagnostics may not detect the (characteristic) low level of mosaicism, and the diagnosis is likely to be missed. Genetic counseling and a life-long alertness for the development of tumors is indicated. We describe the long diagnostic process of a patient who already had a tumor at birth and developed multiple tumors in childhood and adulthood. Furthermore, we offer clues to recognize the entity.",

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author = "Postema, {Floor A M} and Jet Bliek and {van Noesel}, {Carel J M} and {van Zutven}, {Laura J C M} and Oosterwijk, {Jan C} and Hopman, {Saskia M J} and Merks, {Johannes H M} and Hennekam, {Raoul C}",

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year = "2019",

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doi = "10.1002/pbc.27715",

language = "English",

volume = "66",

pages = "e27715",

journal = "Pediatric blood & cancer",

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T1 - Multiple tumors due to mosaic genome-wide paternal uniparental disomy

AU - Postema, Floor A M

AU - Bliek, Jet

AU - van Noesel, Carel J M

AU - van Zutven, Laura J C M

AU - Oosterwijk, Jan C

AU - Hopman, Saskia M J

AU - Merks, Johannes H M

AU - Hennekam, Raoul C

PY - 2019/3

Y1 - 2019/3

N2 - Mosaic genome-wide paternal uniparental disomy is an infrequently described disorder in which affected individuals have signs and symptoms that may resemble Beckwith-Wiedemann syndrome. In addition, they can develop multiple benign and malignant tumors throughout life. Routine molecular diagnostics may not detect the (characteristic) low level of mosaicism, and the diagnosis is likely to be missed. Genetic counseling and a life-long alertness for the development of tumors is indicated. We describe the long diagnostic process of a patient who already had a tumor at birth and developed multiple tumors in childhood and adulthood. Furthermore, we offer clues to recognize the entity.

AB - Mosaic genome-wide paternal uniparental disomy is an infrequently described disorder in which affected individuals have signs and symptoms that may resemble Beckwith-Wiedemann syndrome. In addition, they can develop multiple benign and malignant tumors throughout life. Routine molecular diagnostics may not detect the (characteristic) low level of mosaicism, and the diagnosis is likely to be missed. Genetic counseling and a life-long alertness for the development of tumors is indicated. We describe the long diagnostic process of a patient who already had a tumor at birth and developed multiple tumors in childhood and adulthood. Furthermore, we offer clues to recognize the entity.

KW - Adult

KW - Beckwith-Wiedemann Syndrome/diagnosis

KW - Chromosomes, Human/genetics

KW - Female

KW - Genome-Wide Association Study

KW - Genomic Imprinting

KW - Genotype

KW - Humans

KW - Infant, Newborn

KW - Male

KW - Mosaicism

KW - Neoplasms/classification

KW - Polymorphism, Single Nucleotide

KW - Prognosis

KW - Uniparental Disomy/diagnosis

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DO - 10.1002/pbc.27715

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C2 - 30882989

SN - 1545-5009

VL - 66

SP - e27715

JO - Pediatric blood & cancer

JF - Pediatric blood & cancer

IS - 6

M1 - e27715

ER -

Multiple tumors due to mosaic genome-wide paternal uniparental disomy

Abstract

Keywords

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