000096245 001__ 96245
000096245 005__ 20220426091145.0
000096245 0247_ $$2doi$$a10.1038/s41375-020-0800-6
000096245 0248_ $$2sideral$$a117353
000096245 037__ $$aART-2020-117353
000096245 041__ $$aeng
000096245 100__ $$aCuenca, I.
000096245 245__ $$aImmunogenetic characterization of clonal plasma cells in systemic light-chain amyloidosis
000096245 260__ $$c2020
000096245 5060_ $$aAccess copy available to the general public$$fUnrestricted
000096245 5203_ $$aTo the Editor:
Sequence-based analysis has come to play an integral role in many hematological malignancies [1], but disorders such as systemic light-chain (AL) amyloidosis remain poorly characterized due to its low incidence and small tumor size [2, 3]. Thus, greater knowledge about the immunogenetic landscape of AL amyloidosis is required since, for example, potential differences between the genomic profiles of AL amyloidosis and multiple myeloma (MM) could help identifying patients with monoclonal gammopathies at greater risk of developing AL amyloidosis and monitor presymptomatic organ damage [4, 5].
To gain further insight into the immunogenetic landscape of AL amyloidosis, we performed whole-exome sequencing (WES) on highly purified bone marrow clonal plasma cells (PCs) isolated by fluorescence activation cell sorting (FACS) based on patient-specific aberrant phenotypes. A total of 27 patients with confirmed new diagnosis of AL amyloidosis based on the presence of amyloid-related systemic syndrome, positive amyloid tissue staining with Congo red, restricted light-chain deposition by immunohistochemistry or mass spectometry, and evidence of PC clonality were investigated. Patients’ demographics and clinical characteristics are described in Supplementary Table 1. PCs were collected and processed in triplicates followed by whole genome amplification of samples with genomic DNA amounts <50 ng (Supplementary Table 2). Afterwards, library construction, exome enrichment, and sequencing were performed individually. An overall average depth of 63× and mean on-target coverage of 84% were obtained. Data were deposited in the Sequence Read Archive of the NCBI (http://www.ncbi.nlm.nih.gov/sra) under the PRJNA596656 access number...
000096245 536__ $$9info:eu-repo/grantAgreement/ES/ISCIII/CIBERONC$$9info:eu-repo/grantAgreement/ES/ISCIII-FIS/PI13-02196$$9info:eu-repo/grantAgreement/ES/MINECO-FEDER/ISCIII-CB16-12-00369$$9info:eu-repo/grantAgreement/ES/MINECO-FEDER/ISCIII-CB16-12-00489
000096245 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/
000096245 590__ $$a11.528$$b2020
000096245 591__ $$aONCOLOGY$$b23 / 242 = 0.095$$c2020$$dQ1$$eT1
000096245 591__ $$aHEMATOLOGY$$b5 / 76 = 0.066$$c2020$$dQ1$$eT1
000096245 592__ $$a4.538$$b2020
000096245 593__ $$aAnesthesiology and Pain Medicine$$c2020$$dQ1
000096245 593__ $$aOncology$$c2020$$dQ1
000096245 593__ $$aHematology$$c2020$$dQ1
000096245 593__ $$aCancer Research$$c2020$$dQ1
000096245 655_4 $$ainfo:eu-repo/semantics/other$$vinfo:eu-repo/semantics/publishedVersion
000096245 700__ $$aAlameda, D.
000096245 700__ $$aSanchez-Vega, B.
000096245 700__ $$aGomez-Sanchez, D.
000096245 700__ $$aAlignani, D.
000096245 700__ $$aLasa, M.
000096245 700__ $$aOnecha, E.
000096245 700__ $$aLecumberri, R.
000096245 700__ $$aProsper, F.
000096245 700__ $$aOcio, E.M.
000096245 700__ $$aGonzález, M.E.
000096245 700__ $$aGarcía de Coca, A.
000096245 700__ $$aDe La Rubia, J.
000096245 700__ $$aGironella, M.
000096245 700__ $$0(orcid)0000-0001-8515-3599$$aPalomera, L.$$uUniversidad de Zaragoza
000096245 700__ $$aOriol, A.
000096245 700__ $$aCasanova, M.
000096245 700__ $$aCabañas, V.
000096245 700__ $$aTaboada, F.
000096245 700__ $$aPérez-Montaña, A.
000096245 700__ $$aDe Arriba, F.
000096245 700__ $$aPuig, N.
000096245 700__ $$aCarreño-Tarragona, G.
000096245 700__ $$aBarrio, S.
000096245 700__ $$aEnrique de la Puerta, J.
000096245 700__ $$aRamirez-Payer, A.
000096245 700__ $$aKrsnik, I.
000096245 700__ $$aBargay, J.J.
000096245 700__ $$aLahuerta, J.J.
000096245 700__ $$aMateos, M.V.
000096245 700__ $$aSan-Miguel, J.F.
000096245 700__ $$aPaiva, B.
000096245 700__ $$aLopez, J.M.
000096245 7102_ $$11007$$2610$$aUniversidad de Zaragoza$$bDpto. Medicina, Psiqu. y Derm.$$cArea Medicina
000096245 773__ $$g2020, 35 (2020), 245–249$$pLeukemia$$tLeukemia$$x0887-6924
000096245 8564_ $$s500641$$uhttps://zaguan.unizar.es/record/96245/files/texto_completo.pdf$$yVersión publicada
000096245 8564_ $$s29654$$uhttps://zaguan.unizar.es/record/96245/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000096245 909CO $$ooai:zaguan.unizar.es:96245$$particulos$$pdriver
000096245 951__ $$a2022-04-26-08:59:40
000096245 980__ $$aARTICLE