‘Cut from the same cloth’: Shared microsatellite variants among cancers link to ectodermal tissues-neural tube and crest cells

// Enusha Karunasena 1, * , Lauren J. Mciver 1, * , Jasmin H. Bavarva 1 , Xiaowei Wu 2 , Hongxiao Zhu 2 , Harold R. Garner 1 1 Virginia Bioinformatics Institute, Medical Informatics and Systems Division, Virginia Tech, Blacksburg, VA 24061, USA 2 Department of Statistics, Virginia Tech, Blacksburg, VA 24061, USA * These authors have contributed equally to this work Correspondence to: Enusha Karunasena, e-mail: enusha.karunasena@gmail.com Harold R. Garner, e-mail: garner@vbi.vt.edu Keywords: microsatellite, glioma, medulloblastoma, melanoma, neuroblastoma Received: April 07, 2015      Accepted: June 05, 2015      Published: June 17, 2015 ABSTRACT The pluripotent cells of the embryonic ectodermal tissues are known to be a precursor for multiple tumor types. The adaptability of these cells is a trait exploited by cancer. We previously described cancer-associated microsatellite loci (CAML) shared between glioblastoma (GBM) and lower-grade gliomas. Therefore, we hypothesized that these variants, identified from germline DNA, are shared by cancers from tissues originating from ectodermal tissues: neural tube cells (NTC) and crest cells (NCC). Using exome sequencing data from four cancers with origins to NTC and NCC, a ‘signature’ of loci significant to each cancer ( p -value ≤ 0.01) was created and compared with previously identified CAML from breast cancer. The results of this analysis show that variant loci among the cancers with tissue origins from NTC/NCC were closely linked. Signaling pathways linked to genes with non-coding CAML genotypes revealed enriched connections to hereditary, neurological, and developmental disease or disorders. Thus, variants in genes from tissues initiating from NTC/NCC, if recurrently detected, may indicate a common etiology. Additionally, CAML genotypes from non-tumor DNA may predict cancer phenotypes and are common to shared embryonic tissues of origin.