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  • TMEM30A loss-of-function mu...
    Ennishi, Daisuke; Healy, Shannon; Bashashati, Ali; Saberi, Saeed; Hother, Christoffer; Mottok, Anja; Chan, Fong Chun; Chong, Lauren; Abraham, Libin; Kridel, Robert; Boyle, Merrill; Meissner, Barbara; Aoki, Tomohiro; Takata, Katsuyoshi; Woolcock, Bruce W; Viganò, Elena; Gold, Michael; Molday, Laurie L; Molday, Robert S; Telenius, Adele; Li, Michael Y; Wretham, Nicole; Dos Santos, Nancy; Wong, Mark; Viller, Natasja N; Uger, Robert A; Duns, Gerben; Baticados, Abigail; Madero, Angel; Bristow, Brianna N; Farinha, Pedro; Slack, Graham W; Ben-Neriah, Susana; Lai, Daniel; Zhang, Allen W; Salehi, Sohrab; Shulha, Hennady P; Chiu, Derek S; Mostafavi, Sara; Gerrie, Alina S; Huang, Da Wei; Rushton, Christopher; Villa, Diego; Sehn, Laurie H; Savage, Kerry J; Mungall, Andrew J; Weng, Andrew P; Bally, Marcel B; Morin, Ryan D; Cohen Freue, Gabriela V; Staudt, Louis M; Connors, Joseph M; Marra, Marco A; Shah, Sohrab P; Gascoyne, Randy D; Scott, David W; Steidl, Christian

    Nature medicine, 04/2020, Letnik: 26, Številka: 4
    Journal Article

    Transmembrane protein 30A (TMEM30A) maintains the asymmetric distribution of phosphatidylserine, an integral component of the cell membrane and 'eat-me' signal recognized by macrophages. Integrative genomic and transcriptomic analysis of diffuse large B-cell lymphoma (DLBCL) from the British Columbia population-based registry uncovered recurrent biallelic TMEM30A loss-of-function mutations, which were associated with a favorable outcome and uniquely observed in DLBCL. Using TMEM30A-knockout systems, increased accumulation of chemotherapy drugs was observed in TMEM30A-knockout cell lines and TMEM30A-mutated primary cells, explaining the improved treatment outcome. Furthermore, we found increased tumor-associated macrophages and an enhanced effect of anti-CD47 blockade limiting tumor growth in TMEM30A-knockout models. By contrast, we show that TMEM30A loss-of-function increases B-cell signaling following antigen stimulation-a mechanism conferring selective advantage during B-cell lymphoma development. Our data highlight a multifaceted role for TMEM30A in B-cell lymphomagenesis, and characterize intrinsic and extrinsic vulnerabilities of cancer cells that can be therapeutically exploited.