Heredea Rodica Elena, Melnic Eugen, Cirligeriu Laura Elena, Berzava Patricia Lorena, Stănciulescu Maria Corina, Popoiu Călin Marius, Cimpean Anca Maria
Center of Expertise for Rare Vascular Disease in Children, Louis Turcanu Children Hospital, 300041 Timisoara, Romania.
Department V/Division of Clinical Practical Skills, Victor Babes University of Medicine and Pharmacy, 300041 Timisoara, Romania.
Children (Basel). 2022 Jun 17;9(6):908. doi: 10.3390/children9060908.
. Infantile hemangiomas may have unexpected behavior. Initial regression (spontaneously or drug-induced) may be followed by unexplained recurrences. At this moment, there are no well-established criteria to predict infantile hemangioma reccurrences. . We compared the VEGF pathway gene expression profile for one case of involuting infantile hemangioma versus one case of recurrent proliferative infantile hemangioma using TaqMan Array. . We found ten genes upregulated for both involuting and recurrent proliferative hemangiomas: ACTB, KRAS, MAP2K1, HRAS, NOS3, BAD, HSPB1, HPRT1, GUSB, and CASP9. Thirteen genes were downregulated for both involuting and proliferative hemangiomas: FIGF, ACTG1, GRB2, MAPKAPK2, ACTG2, MAP2K2, MAPK3, HSP90AA1, MAP2K6, NRAS, ACTA1, KDR, and MAPK1. Three genes showed divergent expression between proliferating and involuting hemangiomas. Proliferating hemangioma had MAPK14 and AKT1 gene upregulation and ACTA2 downregulation. Involuting infantile hemangioma was characterized by ACTA2 upregulation and AKT1 and MAPK14 downregulation. . Three genes, AKT1, p38/MAPK14, and ACTA2, were found to have divergent expression in proliferating and involuting infantile hemangiomas. Excepting AKT1, which was mentioned in the last ISSVA classification (strictly related to Proteus Syndrome), none of the other genes were reported. An accurate gene expression profile mapping of infantile hemangiomas together with a gene expression-based hemangioma classification is stringently needed.
婴儿血管瘤可能有意外的表现。最初的消退（自发或药物诱导）之后可能会出现无法解释的复发。目前，尚无成熟的标准来预测婴儿血管瘤的复发。我们使用TaqMan基因芯片比较了1例消退期婴儿血管瘤与1例复发性增殖期婴儿血管瘤的VEGF通路基因表达谱。我们发现，在消退期和复发性增殖期血管瘤中均上调的基因有10个：ACTB、KRAS、MAP2K1、HRAS、NOS3、BAD、HSPB1、HPRT1、GUSB和CASP9。在消退期和增殖期血管瘤中均下调的基因有13个：FIGF、ACTG1、GRB2、MAPKAPK2、ACTG2、MAP2K2、MAPK3、HSP90AA1、MAP2K6、NRAS、ACTA1、KDR和MAPK1。有3个基因在增殖期和消退期血管瘤中表现出不同的表达。增殖期血管瘤的MAPK14和AKT1基因上调，ACTA2下调。消退期婴儿血管瘤的特征是ACTA2上调，AKT1和MAPK14下调。我们发现，AKT1、p38/MAPK14和ACTA2这3个基因在增殖期和消退期婴儿血管瘤中表达不同。除了在上一版国际脉管性疾病研究学会（ISSVA）分类中提到的与Proteus综合征密切相关的AKT1外，其他基因均未被报道。迫切需要对婴儿血管瘤进行准确的基因表达谱绘制以及基于基因表达的血管瘤分类。
