Brief Report

Optic pathway glioma as part of a constitutional mismatch-repair deficiency syndrome in a patient meeting the criteria for neurofibromatosis type 1^†

Jacky T. Yeung Bsc

Doris Duke Clinical Research Fellowship, Department of Neurosurgery, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania

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Ian F. Pollack MD,

Ian F. Pollack MD

Department of Neurosurgery, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania

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Sapana Shah MD,

Sapana Shah MD

Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania

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Ronald Jaffe MD,

Ronald Jaffe MD

Department of Pathology, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania

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Marina Nikiforova MD,

Marina Nikiforova MD

Department of Pathology, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania

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Regina I. Jakacki MD,

Corresponding Author

Regina I. Jakacki MD

[email protected]

Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania

Children's Hospital of Pittsburgh, 4401 Penn Avenue, Pittsburgh, PA 15224.===Search for more papers by this author

Jacky T. Yeung Bsc,

Jacky T. Yeung Bsc

Doris Duke Clinical Research Fellowship, Department of Neurosurgery, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania

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Ian F. Pollack MD,

Ian F. Pollack MD

Department of Neurosurgery, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania

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Sapana Shah MD,

Sapana Shah MD

Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania

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Ronald Jaffe MD,

Ronald Jaffe MD

Department of Pathology, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania

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Marina Nikiforova MD,

Marina Nikiforova MD

Department of Pathology, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania

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Regina I. Jakacki MD,

Corresponding Author

Regina I. Jakacki MD

[email protected]

Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania

Children's Hospital of Pittsburgh, 4401 Penn Avenue, Pittsburgh, PA 15224.===Search for more papers by this author

First published: 27 July 2012

https://doi.org/10.1002/pbc.24254

Citations: 15

^†

Conflict of Interest: Nothing to declare.

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Abstract

Patients with constitutional mismatch repair-deficiency (CMMR-D) caused by the biallelic deletions of mismatch repair (MMR) genes have a high likelihood of developing malignancies of the bone marrow, bowel, and brain. Affected individuals often have phenotypic features of neurofibromatosis type 1 (NF-1), including café-au-lait spots. Optic pathway gliomas (OPGs), a common manifestation of NF-1, have not been reported. We report the case of a 3-year-old male with an extensive OPG who met the diagnostic criteria for NF-1. He was subsequently found to have multiple colonic polyps and bi-allelic loss of PMS2. Testing for NF-1 was negative. Pediatr Blood Cancer 2013; 60: 137–139. © 2012 Wiley Periodicals, Inc.

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Volume60, Issue1

January 2013

Pages 137-139

Optic pathway glioma as part of a constitutional mismatch-repair deficiency syndrome in a patient meeting the criteria for neurofibromatosis type 1^†

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Optic pathway glioma as part of a constitutional mismatch-repair deficiency syndrome in a patient meeting the criteria for neurofibromatosis type 1†

Abstract

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Optic pathway glioma as part of a constitutional mismatch-repair deficiency syndrome in a patient meeting the criteria for neurofibromatosis type 1^†