Treatment of neuroblastoma in congenital central hypoventilation syndrome with a PHOX2B polyalanine repeat expansion mutation: New twist on a neurocristopathy syndrome

Amy E. Armstrong; Debra E. Weese-Mayer; Amir Mian; John M. Maris; Vandana Batra; Yasmin Gosiengfiao; Jennifer Reichek; Mary Beth Madonna; Jonathan W. Bush; Richard M. Shore; David O. Walterhouse

doi:10.1002/pbc.25572

Treatment of neuroblastoma in congenital central hypoventilation syndrome with a PHOX2B polyalanine repeat expansion mutation: New twist on a neurocristopathy syndrome

Amy E. Armstrong, Debra E. Weese-Mayer, Amir Mian, John M. Maris, Vandana Batra, Yasmin Gosiengfiao, Jennifer Reichek, Mary Beth Madonna, Jonathan W. Bush, Richard M. Shore, David O. Walterhouse

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

10 Scopus citations

Abstract

Neuroblastoma in patients with congenital central hypoventilation syndrome (CCHS) as part of a neurocristopathy syndrome is a rare finding and has only been associated with paired-like homeobox 2b (PHOX2B) non-polyalanine-repeat-expansion mutations. To the best of our knowledge, we report the first case of a child with CCHS and Hirschsprung disease who had a PHOX2B polyalanine-repeat-expansion mutation (PARM) (genotype 20/33) and developed high-risk neuroblastoma. We further describe his treatment including chemotherapy and therapeutic I¹³¹-metaiodobenzylguanidine. This case highlights the need to consider neuroblastoma in patients with CCHS and the longest PHOX2B PARMs and to individualize treatment based on co-morbidities.

Original language	English (US)
Pages (from-to)	2007-2010
Number of pages	4
Journal	Pediatric Blood and Cancer
Volume	62
Issue number	11
DOIs	https://doi.org/10.1002/pbc.25572
State	Published - Nov 1 2015
Externally published	Yes

Keywords

Chemotherapy
Congenital central hypoventilation syndrome
MIBG
Neuroblastoma
Neurocristopathy
PHOX2B

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Hematology
Oncology

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Armstrong, A. E., Weese-Mayer, D. E., Mian, A., Maris, J. M., Batra, V., Gosiengfiao, Y., Reichek, J., Madonna, M. B., Bush, J. W., Shore, R. M., & Walterhouse, D. O. (2015). Treatment of neuroblastoma in congenital central hypoventilation syndrome with a PHOX2B polyalanine repeat expansion mutation: New twist on a neurocristopathy syndrome. Pediatric Blood and Cancer, 62(11), 2007-2010. https://doi.org/10.1002/pbc.25572

Treatment of neuroblastoma in congenital central hypoventilation syndrome with a PHOX2B polyalanine repeat expansion mutation: New twist on a neurocristopathy syndrome. / Armstrong, Amy E.; Weese-Mayer, Debra E.; Mian, Amir et al.
In: Pediatric Blood and Cancer, Vol. 62, No. 11, 01.11.2015, p. 2007-2010.

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

Armstrong, AE, Weese-Mayer, DE, Mian, A, Maris, JM, Batra, V, Gosiengfiao, Y, Reichek, J, Madonna, MB, Bush, JW, Shore, RM & Walterhouse, DO 2015, 'Treatment of neuroblastoma in congenital central hypoventilation syndrome with a PHOX2B polyalanine repeat expansion mutation: New twist on a neurocristopathy syndrome', Pediatric Blood and Cancer, vol. 62, no. 11, pp. 2007-2010. https://doi.org/10.1002/pbc.25572

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abstract = "Neuroblastoma in patients with congenital central hypoventilation syndrome (CCHS) as part of a neurocristopathy syndrome is a rare finding and has only been associated with paired-like homeobox 2b (PHOX2B) non-polyalanine-repeat-expansion mutations. To the best of our knowledge, we report the first case of a child with CCHS and Hirschsprung disease who had a PHOX2B polyalanine-repeat-expansion mutation (PARM) (genotype 20/33) and developed high-risk neuroblastoma. We further describe his treatment including chemotherapy and therapeutic I131-metaiodobenzylguanidine. This case highlights the need to consider neuroblastoma in patients with CCHS and the longest PHOX2B PARMs and to individualize treatment based on co-morbidities.",

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AB - Neuroblastoma in patients with congenital central hypoventilation syndrome (CCHS) as part of a neurocristopathy syndrome is a rare finding and has only been associated with paired-like homeobox 2b (PHOX2B) non-polyalanine-repeat-expansion mutations. To the best of our knowledge, we report the first case of a child with CCHS and Hirschsprung disease who had a PHOX2B polyalanine-repeat-expansion mutation (PARM) (genotype 20/33) and developed high-risk neuroblastoma. We further describe his treatment including chemotherapy and therapeutic I131-metaiodobenzylguanidine. This case highlights the need to consider neuroblastoma in patients with CCHS and the longest PHOX2B PARMs and to individualize treatment based on co-morbidities.

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Treatment of neuroblastoma in congenital central hypoventilation syndrome with a PHOX2B polyalanine repeat expansion mutation: New twist on a neurocristopathy syndrome

Abstract

Keywords

ASJC Scopus subject areas

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