Expression of Wilms tumor 1 gene distinguishes vascular malformations from proliferative endothelial lesions. Arch Dermatol 2005 Oct;141(10):1297-300
Date
10/19/2005Pubmed ID
16230568DOI
10.1001/archderm.141.10.1297Scopus ID
2-s2.0-27144520042 (requires institutional sign-in at Scopus site) 82 CitationsAbstract
BACKGROUND: Vascular malformations and hemangiomas, which are endothelial lesions of childhood, may result in considerable morbidity because they can cause discomfort and functional impairment and have a negative affect on the patient's appearance. Although vascular malformations may initially appear very similar to hemangiomas, they have distinct clinical courses. Infantile hemangiomas progress through 3 stages: proliferative, involuting, and involuted. The proliferative phase is characterized by clinical growth. Once hemangiomas reach their maximum size, they begin to regress or involute. Histologically, this stage is characterized by endothelial apoptosis. Finally, the involuted stage of the hemangioma occurs when the original lesion is replaced by a connective tissue remnant. In contrast to hemangiomas, vascular malformations do not involute but continue to enlarge as the patient grows.
OBSERVATIONS: The biochemical differences between hemangiomas, which involute, and vascular malformations, which do not involute, are not well understood. We found that the transcription factor encoded by the Wilms tumor 1 (WT1) gene is expressed in the endothelium of hemangiomas but not in vascular malformations.
CONCLUSIONS: Defects in WT1 signaling may underlie the inability of malformation endothelial cells to undergo physiologic apoptosis and remodeling. The availability of WT1 staining in hospital laboratories may allow the clinician to distinguish hemangiomas from vascular malformations and thus to give appropriate therapy to the patient.
Author List
Lawley LP, Cerimele F, Weiss SW, North P, Cohen C, Kozakewich HP, Mulliken JB, Arbiser JLAuthor
Paula E. North MD, PhD Professor in the Pathology department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
ApoptosisArteriovenous Malformations
Diagnosis, Differential
Disease Progression
Gene Expression
Genes, Wilms Tumor
Hemangioma
Humans
Immunohistochemistry
