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  5. Gene Expression Differences in Pediatric Lymphatic Malformations: Size Really Matters

Gene Expression Differences in Pediatric Lymphatic Malformations: Size Really Matters

Gomez-Acevedo H1, Dornhoffer JR2, Stone A3,4, Dai Y5, Richter GT6,7.

Abstract

Lymphatic malformations (LMs) are congenital vascular anomalies characterized by dilated and cystic lymphatic channels. They are subdivided into macrocystic and microcystic lesions based upon the predominant size of the cysts involved. However, significant differences in clinical characteristics, treatment outcomes, and prognosis between macrocytic and microcytic disease suggest variation in underlying biologic and genetic influences. Indirect differential expression analysis revealed that 426 genes are significantly different (p < 0.01) in a small sample of LM subtypes. Functional analyses on the differentially expressed gene sets showed that microcystic LM gene expression favors a prooncogenic profile with upregulation of MYC target genes and cell cycle proteins, whereas macrocystic expression demonstrates hypoxic events that lead to angiogenesis and cell proliferation. Therefore, microcystic and macrocystic LMs, although histologically and physiologically similar, may occur under the influence of vastly different biological pathways and mechanisms of action.

KEYWORDS:

gene microarray; lymphatic malformations; macrocystic lymphatic malformation; microcystic lymphatic malformation; pediatric lymphatic malformations

PMID: 30130159 | PMCID: PMC6104254 [Available on 2019-08-01] | DOI: 10.1089/lrb.2017.0064

Posted by Chris Lesher on August 16, 2018

Filed Under: Publications

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