Mei-Lan Windels, Fleur Cordier, Jo Van Dorpe, Liesbeth Ferdinande, David Creytens
{"title":"PHOX2B: a diagnostic cornerstone in neurocristopathies and neuroblastomas.","authors":"Mei-Lan Windels, Fleur Cordier, Jo Van Dorpe, Liesbeth Ferdinande, David Creytens","doi":"10.1136/jcp-2023-209047","DOIUrl":null,"url":null,"abstract":"<p><p>Paired-like homeobox 2B (<i>PHOX2B</i>) is a gene essential in the development of the autonomic nervous system. <i>PHOX2B</i> mutations are associated with neurocristopathies-Hirschsprung disease (HSCR) and congenital central hypoventilation syndrome (CCHS)-and peripheral neuroblastic tumours. PHOXB2 plays an important role in the diagnostics of these conditions.Genotyping of a <i>PHOX2B</i> pathogenic variant is required to establish a diagnosis of CCHS. In HSCR patients, PHOX2B immunohistochemical staining has proven to be a valuable tool in identifying this disease. Furthermore, <i>PHOXB2</i> is a predisposition gene for neuroblastoma, in which PHOX2B immunohistochemical staining can be used as a highly sensitive and specific diagnostic marker. The utility of PHOX2B immunohistochemistry in pheochromocytoma and paraganglioma has also been studied but yields conflicting results.In this review, an overview is given of <i>PHOX2B</i>, its associated diseases and the usefulness of PHOX2B immunohistochemistry as a diagnostic tool.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":null,"pages":null},"PeriodicalIF":2.5000,"publicationDate":"2024-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Clinical Pathology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1136/jcp-2023-209047","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"PATHOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Paired-like homeobox 2B (PHOX2B) is a gene essential in the development of the autonomic nervous system. PHOX2B mutations are associated with neurocristopathies-Hirschsprung disease (HSCR) and congenital central hypoventilation syndrome (CCHS)-and peripheral neuroblastic tumours. PHOXB2 plays an important role in the diagnostics of these conditions.Genotyping of a PHOX2B pathogenic variant is required to establish a diagnosis of CCHS. In HSCR patients, PHOX2B immunohistochemical staining has proven to be a valuable tool in identifying this disease. Furthermore, PHOXB2 is a predisposition gene for neuroblastoma, in which PHOX2B immunohistochemical staining can be used as a highly sensitive and specific diagnostic marker. The utility of PHOX2B immunohistochemistry in pheochromocytoma and paraganglioma has also been studied but yields conflicting results.In this review, an overview is given of PHOX2B, its associated diseases and the usefulness of PHOX2B immunohistochemistry as a diagnostic tool.
期刊介绍:
Journal of Clinical Pathology is a leading international journal covering all aspects of pathology. Diagnostic and research areas covered include histopathology, virology, haematology, microbiology, cytopathology, chemical pathology, molecular pathology, forensic pathology, dermatopathology, neuropathology and immunopathology. Each issue contains Reviews, Original articles, Short reports, Correspondence and more.