Driskill Jordan H, Hwang Helena, Callan Alexandra K, Oliver Dwight
Medical Scientist Training Program, The University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
Department of Pathology, The University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
Case Rep Genet. 2022 Aug 2;2022:9016497. doi: 10.1155/2022/9016497. eCollection 2022.
Fibro-adipose vascular anomaly (FAVA) is a recently described complex and painful benign lesion found in young adults and the pediatric population composed of intramuscular vascular, fibrous, and adipose tissues. A previous report has identified the presence of somatic mosaic mutations in the gene for the catalytic subunit of phosphatidylinositol 3-kinase () in cases of FAVA. Herein, we present a case of FAVA found in a 23-year-old male patient who presented with chronic wrist pain associated with a mass, and we identified an associated somatic activating mutation (H1047R) in . We briefly review the relevant literature surrounding the identification and histology of FAVA, the known mutational spectrum, downstream signaling pathways, and relevant treatment modalities. Our case highlights the association between FAVA and somatic mosaic activating mutations.
纤维脂肪血管异常（FAVA）是一种最近才被描述的复杂且疼痛的良性病变，见于年轻人和儿童群体，由肌内血管、纤维和脂肪组织构成。先前的一份报告已确定在FAVA病例中，磷脂酰肌醇3激酶（PI3K）催化亚基基因存在体细胞镶嵌突变。在此，我们报告一例在一名23岁男性患者中发现的FAVA，该患者表现为与肿块相关的慢性腕部疼痛，并且我们在PI3K中鉴定出一个相关的体细胞激活突变（H1047R）。我们简要回顾了围绕FAVA的识别、组织学、已知突变谱、下游信号通路及相关治疗方式的相关文献。我们的病例突出了FAVA与体细胞镶嵌激活突变之间的关联。
