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^*

^*Corresponding author for this work

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

11 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

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

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

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.",

keywords = "Chemotherapy, Congenital central hypoventilation syndrome, MIBG, Neuroblastoma, Neurocristopathy, PHOX2B",

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

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year = "2015",

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day = "1",

doi = "10.1002/pbc.25572",

language = "English (US)",

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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

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

TY - JOUR

T1 - Treatment of neuroblastoma in congenital central hypoventilation syndrome with a PHOX2B polyalanine repeat expansion mutation

T2 - New twist on a neurocristopathy syndrome

AU - Armstrong, Amy E.

AU - Weese-Mayer, Debra E.

AU - Mian, Amir

AU - Maris, John M.

AU - Batra, Vandana

AU - Gosiengfiao, Yasmin

AU - Reichek, Jennifer

AU - Madonna, Mary Beth

AU - Bush, Jonathan W.

AU - Shore, Richard M.

AU - Walterhouse, David O.

PY - 2015/11/1

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N2 - 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.

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.

KW - Chemotherapy

KW - Congenital central hypoventilation syndrome

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KW - PHOX2B

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SN - 1545-5009

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JO - Pediatric Blood and Cancer

JF - Pediatric Blood and Cancer

IS - 11

ER -

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

Abstract

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