Variable Imprinting of H19 and IGF2 in Fetal Cerebellum and Medulloblastoma (original) (raw)

Journal Article

,

Department of Pathology, Sir Mortimer B. Davis—Jewish General Hospital,

McGill University

, Montreal, Canada

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,

Institute for Neuropathology,

University Clinics Bonn

, Bonn, Germany

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,

Institute for Neuropathology,

University Clinics Bonn

, Bonn, Germany

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,

Institute for Neuropathology,

University Clinics Bonn

, Bonn, Germany

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,

Department of Pediatrics, Montreal Children's Hospital and

McGill University

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Institute for Neuropathology,

University Clinics Bonn

, Bonn, Germany

Correspondence to: T. Pietsch, MD, Institute for Neuropathology, University Clinics Bonn, Sigmund-Freud-Strasse 25, D-53105 Bonn, Germany.

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Published:

01 December 1996

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Steffen Albrecht, Andreas Waha, Anke Koch, Jorgen A. Kraus, Cynthia G. Goodyer, Torsten Pietsch, Variable Imprinting of H19 and IGF2 in Fetal Cerebellum and Medulloblastoma, Journal of Neuropathology & Experimental Neurology, Volume 55, Issue 12, December 1996, Pages 1270–1276, https://doi.org/10.1097/00005072-199612000-00011
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Abstract

Only the maternal or paternal allele of an imprinted gene is expressed in somatic cells. The gene for insulin-like growth factor II (IGF2) and the H19 gene (a putative tumor suppressor gene) are imprinted in humans with monoallelic paternal and maternal expression, respectively. Loss of imprinting (LOI) (i.e. biallelic expression) of IGF2 occurs in some tumors and may promote tumor growth. We examined imprinting of IGF2 and H19 in 6 fetal cerebella, 1 adult cerebellum, 15 medulloblastomas, and 7 medulloblastoma cell lines using polymerase chain reaction (PCR) and reverse transcription-PCR of exonic polymorphisms. Loss of imprinting of IGF2 occurred in 2 out of 3 informative fetal cerebella, 3 out of 7 informative medulloblastomas, and 1 out of 4 informative cell lines. Loss of imprinting of H19 occurred in 0 out of 4 informative fetal cerebella, 0 out of 1 informative adult cerebellum, 4 out of 8 informative medulloblastomas, and 1 out of 4 informative cell lines. The biallelic expression of H19 was only partial in two medulloblastomas, however, with one allele being significantly weaker than the other. Loss of imprinting of IGF2 occurs in medulloblastomas or medulloblastoma cell lines but can also occur in normal fetal cerebellum. Its occurence in medulloblastomas may therefore reflect the tumors' embryonal nature rather than representing a primary pathogenetic mechanism. Our data also indicate that both genes can be imprinted and expressed independently of each another, both in normal cerebellum and medulloblastomas.

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© 1996 by the American Association of Neuropathologists, Inc.

Topic:

• alleles
• polymerase chain reaction
• polymorphism
• adult
• cell lines
• fetus
• genes
• tumor suppressor genes
• imprinting (psychology)
• insulin-like growth factor ii
• medulloblastoma
• mothers
• cerebellum
• neoplasms
• tumor growth
• somatic cell

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