Santos Anna Claudia Evangelista Dos, Heck Benjamin, Camargo Beatriz De, Vargas Fernando Regla
Departamento de Genética e Biologia Molecular, Universidade Federal do Estado do Rio de Janeiro (UNIRIO), Rio de Janeiro, RJ, Brazil.
Departamento de Genética, Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, SP, Brazil.
Genet Mol Biol. 2016 May 24;39(2):232-8. doi: 10.1590/1678-4685-GMB-2015-0024.
Cafe-au-lait maculae (CALM) are frequently observed in humans, and usually are present as a solitary spot. Multiple CALMs are present in a smaller fraction of the population and are usually associated with other congenital anomalies as part of many syndromes. Most of these syndromes carry an increased risk of cancer development. Previous studies have indicated that minor congenital anomalies may be more prevalent in children with cancer. We investigated the prevalence of CALMs in two samples of Brazilian patients with childhood solid tumors, totaling 307 individuals. Additionally, 176 school children without diagnosis of cancer, or of a cancer predisposing syndrome, were investigated for the presence of CALMs. The prevalence of solitary CALM was similar in both study groups (18% and 19%) and also in the group of children without cancer. Multiple CALMs were more frequently observed in one of the study groups (Z = 2.1). However, when both groups were analyzed together, the significance disappeared (Z = 1.5). The additional morphological abnormalities in children with multiple CALMs were analyzed and compared to the findings observed in the literature. The nosologic entities associated with CALMs are reviewed.
咖啡斑(CALM)在人类中经常可见,通常表现为单个斑点。多个咖啡斑在较小比例的人群中出现,并且通常作为许多综合征的一部分与其他先天性异常相关。这些综合征中的大多数都有患癌风险增加的情况。先前的研究表明,轻微先天性异常在癌症患儿中可能更为普遍。我们调查了两组巴西儿童实体瘤患者中咖啡斑的患病率,共计307人。此外,对176名未诊断出癌症或癌症易感综合征的学童进行了咖啡斑检查。两个研究组中单个咖啡斑的患病率相似(分别为18%和19%),在无癌症儿童组中也是如此。在其中一个研究组中更频繁地观察到多个咖啡斑(Z = 2.1)。然而,当将两组一起分析时,这种显著性消失了(Z = 1.5)。对有多个咖啡斑儿童的其他形态学异常进行了分析,并与文献中的观察结果进行了比较。对与咖啡斑相关的疾病实体进行了综述。