A case of multifocal lymphangioendotheliomatosis with thrombocytopenia associated with the ANKRD26 gene variant

Abstract

Abstract Background: Multifocal lymphangioendotheliomatosis with thrombocytopenia (MLT) is a rare disease characterized by congenital progressive vasculopathy of the skin and gastrointestinal tract. The pathogenesis of MLT is unclear and only little is known about the genetic variants associated with it. Case presentation: We report a case of MLT associated with a ANKRD26 gene variant in a child whose exon gene testing revealed a variant in the ANKRD26 gene at chromosome chr10:27328937 (c.2329-2332del), which is also a gene variant of unknown significance in ANKRD26-associated thrombocytopenia (ANKRD26-RT). The patient presented with cutaneous petechiae, gastrointestinal bleeding, and severe thrombocytopenia. Treatment with propranolol and sirolimus improved his symptoms, including gastrointestinal bleeding. Conclusions: In this study a possible link between ANKRD26 variant chr10:27328937 (c.2329-2332del) and MLT was identified, and ANKRD26-RT does not exclude other variants on the chromosomal loci. Genetic testing should be completed extremely early when MLT is suspected to facilitate the clinical diagnosis and treatment of MLT and provide personalized genetic counseling for affected children.