Treatment of neuroblastoma in congenital central hypoventilation syndrome with a PHOX2B polyalanine repeat expansion mutation: New twist on a neurocristopathy syndrome
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...
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| Veröffentlicht in: | Pediatric blood & cancer 2015-11, Vol.62 (11), p.2007-2010 |
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| container_issue | 11 |
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| container_title | Pediatric blood & cancer |
| container_volume | 62 |
| creator | Armstrong, Amy E. Weese-Mayer, Debra E. Mian, Amir Maris, John M. Batra, Vandana Gosiengfiao, Yasmin Reichek, Jennifer Madonna, Mary Beth Bush, Jonathan W. Shore, Richard M. Walterhouse, David O. |
| description | 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. Pediatr Blood Cancer © 2015 Wiley Periodicals, Inc. |
| doi_str_mv | 10.1002/pbc.25572 |
| format | Article |
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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. Pediatr Blood Cancer © 2015 Wiley Periodicals, Inc.</description><identifier>ISSN: 1545-5009</identifier><identifier>EISSN: 1545-5017</identifier><identifier>DOI: 10.1002/pbc.25572</identifier><identifier>PMID: 26011159</identifier><language>eng</language><publisher>United States: Blackwell Publishing Ltd</publisher><subject>Adult ; Blood cancer ; Cancer ; Chemotherapy ; congenital central hypoventilation syndrome ; Expansion ; Genotypes ; Hematology ; Hirschsprung's disease ; Homeobox ; Homeodomain Proteins - genetics ; Humans ; Hypoventilation ; Male ; MIBG ; Mutation ; Neuroblastoma ; Neuroblastoma - genetics ; Neuroblastoma - pathology ; Neuroblastoma - therapy ; neurocristopathy ; Obesity Hypoventilation Syndrome - genetics ; Obesity Hypoventilation Syndrome - pathology ; Obesity Hypoventilation Syndrome - therapy ; Oncology ; Patients ; Pediatrics ; Peptides - genetics ; PHOX2B ; Phox2b protein ; Polyalanine ; Transcription Factors - genetics ; Trinucleotide Repeat Expansion</subject><ispartof>Pediatric blood & cancer, 2015-11, Vol.62 (11), p.2007-2010</ispartof><rights>2015 Wiley Periodicals, Inc.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4942-f22f0b41e54993825447558c6cab2ec5f9782e9b544d4e99dad5ec12e01ea0203</citedby><cites>FETCH-LOGICAL-c4942-f22f0b41e54993825447558c6cab2ec5f9782e9b544d4e99dad5ec12e01ea0203</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fpbc.25572$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fpbc.25572$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/26011159$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Armstrong, Amy E.</creatorcontrib><creatorcontrib>Weese-Mayer, Debra E.</creatorcontrib><creatorcontrib>Mian, Amir</creatorcontrib><creatorcontrib>Maris, John M.</creatorcontrib><creatorcontrib>Batra, Vandana</creatorcontrib><creatorcontrib>Gosiengfiao, Yasmin</creatorcontrib><creatorcontrib>Reichek, Jennifer</creatorcontrib><creatorcontrib>Madonna, Mary Beth</creatorcontrib><creatorcontrib>Bush, Jonathan W.</creatorcontrib><creatorcontrib>Shore, Richard M.</creatorcontrib><creatorcontrib>Walterhouse, David O.</creatorcontrib><title>Treatment of neuroblastoma in congenital central hypoventilation syndrome with a PHOX2B polyalanine repeat expansion mutation: New twist on a neurocristopathy syndrome</title><title>Pediatric blood & cancer</title><addtitle>Pediatr Blood Cancer</addtitle><description>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. Pediatr Blood Cancer © 2015 Wiley Periodicals, Inc.</description><subject>Adult</subject><subject>Blood cancer</subject><subject>Cancer</subject><subject>Chemotherapy</subject><subject>congenital central hypoventilation syndrome</subject><subject>Expansion</subject><subject>Genotypes</subject><subject>Hematology</subject><subject>Hirschsprung's disease</subject><subject>Homeobox</subject><subject>Homeodomain Proteins - genetics</subject><subject>Humans</subject><subject>Hypoventilation</subject><subject>Male</subject><subject>MIBG</subject><subject>Mutation</subject><subject>Neuroblastoma</subject><subject>Neuroblastoma - genetics</subject><subject>Neuroblastoma - pathology</subject><subject>Neuroblastoma - therapy</subject><subject>neurocristopathy</subject><subject>Obesity Hypoventilation Syndrome - genetics</subject><subject>Obesity Hypoventilation Syndrome - pathology</subject><subject>Obesity Hypoventilation Syndrome - therapy</subject><subject>Oncology</subject><subject>Patients</subject><subject>Pediatrics</subject><subject>Peptides - genetics</subject><subject>PHOX2B</subject><subject>Phox2b protein</subject><subject>Polyalanine</subject><subject>Transcription Factors - genetics</subject><subject>Trinucleotide Repeat Expansion</subject><issn>1545-5009</issn><issn>1545-5017</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2015</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkctu1DAUhiNERS-w4AWQJTawSGs7di7s6IheUJlWqFzExnKcE8YlsYPtMM0T8Zp4ZtpZIFXq6tjW9__nHP9J8pLgQ4IxPRpqdUg5L-iTZI9wxlOOSfF0e8bVbrLv_U1Ec8zLZ8lurIQQXu0lf68dyNCDCci2yMDobN1JH2wvkTZIWfMTjA6yQyoyLtbFNNg_8aw7GbQ1yE-mcbYHtNRhgSS6Orv8To_RYLtJdtJoA8jBEJsguB2k8StNP4a1-B2awxKFpfaxvYni9QDKxbsdZFhMW_fnyU4rOw8v7upB8uXkw_XsLL24PD2fvb9IFasYTVtKW1wzApxVVVZSzljBealyJWsKirdVUVKo6vjeMKiqRjYcFKGACUhMcXaQvNn4Ds7-HsEH0WuvoIubgB29IEVGS4oZzh6BkjzOkDMW0df_oTd2dCYuImJPnrOypCvq7YZSznrvoBWD0710kyBYrIIWMWixDjqyr-4cx7qHZkveJxuBow2w1B1MDzuJq-PZvWW6UcTfh9utQrpfIi-ygotv81OR_5jPPhVfP4rP2T9Wt8Qo</recordid><startdate>201511</startdate><enddate>201511</enddate><creator>Armstrong, Amy E.</creator><creator>Weese-Mayer, Debra E.</creator><creator>Mian, Amir</creator><creator>Maris, John M.</creator><creator>Batra, Vandana</creator><creator>Gosiengfiao, Yasmin</creator><creator>Reichek, Jennifer</creator><creator>Madonna, Mary Beth</creator><creator>Bush, Jonathan W.</creator><creator>Shore, Richard M.</creator><creator>Walterhouse, David O.</creator><general>Blackwell Publishing Ltd</general><general>Wiley Subscription Services, Inc</general><scope>BSCLL</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7T5</scope><scope>7TK</scope><scope>7TO</scope><scope>8FD</scope><scope>FR3</scope><scope>H94</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>201511</creationdate><title>Treatment of neuroblastoma in congenital central hypoventilation syndrome with a PHOX2B polyalanine repeat expansion mutation: New twist on a neurocristopathy syndrome</title><author>Armstrong, Amy E. ; 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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. Pediatr Blood Cancer © 2015 Wiley Periodicals, Inc.</abstract><cop>United States</cop><pub>Blackwell Publishing Ltd</pub><pmid>26011159</pmid><doi>10.1002/pbc.25572</doi><tpages>4</tpages></addata></record> |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Adult Blood cancer Cancer Chemotherapy congenital central hypoventilation syndrome Expansion Genotypes Hematology Hirschsprung's disease Homeobox Homeodomain Proteins - genetics Humans Hypoventilation Male MIBG Mutation Neuroblastoma Neuroblastoma - genetics Neuroblastoma - pathology Neuroblastoma - therapy neurocristopathy Obesity Hypoventilation Syndrome - genetics Obesity Hypoventilation Syndrome - pathology Obesity Hypoventilation Syndrome - therapy Oncology Patients Pediatrics Peptides - genetics PHOX2B Phox2b protein Polyalanine Transcription Factors - genetics Trinucleotide Repeat Expansion |
| title | Treatment of neuroblastoma in congenital central hypoventilation syndrome with a PHOX2B polyalanine repeat expansion mutation: New twist on a neurocristopathy syndrome |
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