{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"dataset_type":["N/A"],"full_dataset_link":["https://ega-archive.org/datasets/EGAD00010000642"],"sample_count":["1"],"description":["EGA dataset EGAD00010000642"],"repository":["EGA"],"title":["Title not provided"],"pubmed_abstract":["Mutations in Toll-like receptor (TLR) and myeloid differentiation primary response 88 (MYD88) genes have been found in chronic lymphocytic leukemia (CLL) at low frequency. We analyzed the incidence, clinicobiological characteristics, and outcome of patients with TLR/MYD88 mutations in 587 CLL patients. Twenty-three patients (3.9%) had mutations, 19 in MYD88 (one with concurrent IRAK1 mutation), 2 TLR2 (one with concomitant TLR6 mutation), 1 IRAK1, and 1 TLR5. No mutations were found in IRAK2 and IRAK4. TLR/MYD88-mutated CLL overexpressed genes of the nuclear factor κB pathway. Patients with TLR/MYD88 mutations were significantly younger (83% age ≤50 years) than those with no mutations. TLR/MYD88 mutations were the most frequent in young patients. Patients with mutated TLR/MYD88 CLL had a higher frequency of mutated IGHV and low expression of CD38 and ZAP-70. Overall survival (OS) was better in TLR/MYD88-mutated than unmutated patients in the whole series (10-year OS, 100% vs 62%; P = .002), and in the subset of patients age ≤50 years (100% vs 70%; P = .02). In addition, relative OS of TLR/MYD88-mutated patients was similar to that in the age- and gender-matched population. In summary, TLR/MYD88 mutations identify a population of young CLL patients with favorable outcome."],"pubmed_title":["Mutations in TLR/MYD88 pathway identify a subset of young chronic lymphocytic leukemia patients with favorable outcome."],"pubmed_authors":["Martínez-Trillos Alejandra A, Pinyol Magda M, Navarro Alba A, Aymerich Marta M, Jares Pedro P, Juan Manel M, Rozman María M, Colomer Dolors D, Delgado Julio J, Giné Eva E, González-Díaz Marcos M, Hernández-Rivas Jesús M JM, Colado Enrique E, Rayón Consolación C, Payer Angel R AR, Terol Maria José MJ, Navarro Blanca B, Quesada Victor V, Puente Xosé S XS, Rozman Ciril C, López-Otín Carlos C, Campo Elías E, López-Guillermo Armando A, Villamor Neus N"],"name_synonyms":["leukemia, CLL, Cll, small lymphocytic lymphoma, c15, B-cell chronic lymphocytic leukemia, DmelCG7937, CG7937., Chronic Lymphocytic Leukemia, chronic LYMPHOCYTIC, lymphoplasmacytic leukaemia, 311, lymphoplasmacytic leukemia, adult chronic leukaemia, chronic, B-cell chronic lymphocytic leukaemia, Ect5, cll, CML, Hox11-311, 93Bal, B-cell chronic lymphoid leukemia, adult chronic leukemia, microarray, chronic lymphocytic leukaemia, chronic lymphatic leukemia, lymphocytic, chronic lymphatic leukaemia, chronic lymphatic"],"description_synonyms":["leukemia, CLL, Cll, small lymphocytic lymphoma, c15, B-cell chronic lymphocytic leukemia, DmelCG7937, Chronic Lymphocytic Leukemia, chronic LYMPHOCYTIC, lymphoplasmacytic leukaemia, 311, lymphoplasmacytic leukemia, adult chronic leukaemia, chronic, B-cell chronic lymphocytic leukaemia, Ect5, cll, CML, Hox11-311, 93Bal, microarray., B-cell chronic lymphoid leukemia, adult chronic leukemia, chronic lymphocytic leukaemia, chronic lymphatic leukemia, lymphocytic, chronic lymphatic leukaemia, chronic lymphatic, CG7937"],"pubmed_title_synonyms":["myd88, Lymphoplasmacytoid Lymphomas, CLL Lymphoplasmacytoid Lymphomas, CLL, Chronic B-Cell Leukemia, Chronic B-Cell, Lymphocytic Leukemia, dMyD88, B-Lymphocytic Leukemias, Myd88F, chronic LYMPHOCYTIC, Chronic B-Lymphocytic, B-Cell, Lymphatic Leukemia, B-cell chronic lymphocytic leukaemia, Mutations, B Cell, Small, Client., B-cell chronic lymphoid leukemia, dMyd88, Chronic B-Cell Leukemias, Well-Differentiated Lymphocytic, Lymphoplasmacytoid Lymphoma, Well Differentiated, Chronic Lymphocytic Leukemias, Lymphomas, chronic lymphatic, Low-Grade, XMyD88, Lymphocytic, Leukemia, MYD88D, B-cell chronic lymphocytic leukemia, Malignancy, Small-Cell Lymphomas, CLL Lymphoplasmacytoid Lymphoma, Plasmacytoid, Small Lymphocytic Lymphoma, Well-Differentiated Lymphocytic Lymphoma, CG2078, Small-Cell Lymphoma, B-Lymphocytic Leukemia, Diffuse, Lymphoblastic Leukemias, Chronic Lymphatic Leukemias, Disrupted In B Cell Malignancy, Clients, DmMyD88, Chronic, Diffuse Well Differentiated Lymphocytic Lymphoma, Malignancies, Chronic B-Lymphocytic Leukemias, chronic lymphatic leukaemia, Chronic Lymphocytic, Diffuse Well-Differentiated Lymphocytic Lymphoma, Low Grade, MYD88, leukemia, B-Cell Chronic Lymphocytic Leukemia, MyD88, B Cell Malignancy, Small Cell, Chronic Lymphocytic Leukemia, DmMyd88, Chronic B-Lymphocytic Leukemia, lymphoplasmacytic leukaemia, B-Cell Malignancy, Low-Grade B-Cell Malignancies, Chronic Lymphoblastic Leukemia, lymphoplasmacytic leukemia, Leukemias, chronic, B-Cell Leukemia, Well-Differentiated, Chronic Lymphatic, Small Cell Lymphoma, Lymphocytic Leukemias, B-Cell Malignancies, B Lymphocytic Leukemia, B Cell Chronic Lymphocytic Leukemia, chronic lymphatic leukemia, B Cell Leukemia, lymphocytic, Low-Grade B-Cell, Kra, Lymphoblastic Leukemia, Chronic Lymphatic Leukemia, small lymphocytic lymphoma, Lymphatic Leukemias, Lymphocytic Lymphomas, Well-Differentiated Lymphocytic Lymphomas, EP(2)2535, B-Cell Leukemias, Disrupted In B-Cell Malignancy, Lymphoblastic, Chronic Lymphoblastic, Small Lymphocytic, Chronic Lymphoblastic Leukemias, kra, DMMYD88, Low-Grade B-Cell Malignancy, LD20892, DmelCG2078, Small-Cell, Lymphocytic Lymphoma, Patient, Lymphoplasmacytoid, CLL Lymphoplasmacytoid, Lymphoma, chronic lymphocytic leukaemia, myd88d, Small Lymphocytic Lymphomas"],"pubmed_abstract_synonyms":["myd88, CLL, Cll, STD, ADPRC 1, Materials, Incidences, dMyD88, I-19, low frequency, Receptors, Myd88F, chronic LYMPHOCYTIC, Person-time Rates, Gene, Proportion, AI327364, 2'-phospho-ADP-ribosyl cyclase/2'-phospho-cyclic-ADP-ribose transferase, B-cell chronic lymphocytic leukaemia, mrtle, Mutations, Secondary Attack Rate, cll, CML, School-Age, Rate, Client., B-cell chronic lymphoid leukemia, responsivity, 2'-phospho-cyclic-ADP-ribose transferase, dMyd88, fam:TLR, IRAK, Plpk, Incidence Rate, 9330209D03Rik, Low, Toll Like, Attack Rates, cADPr hydrolase 1, chronic lymphatic, XMyD88, RGD1563841, reactivity, School-Age Populations, Toll Like Receptor, me75, MYD88D, Genetic, B-cell chronic lymphocytic leukemia, occurrence, CD38H, Ly105, ZAP-70, prevalence, CG2078, Population, adult chronic leukaemia, D17Mit170, T1, Toll Like Receptors, Ect5, RCB0750, Cumulative, CD282, high frequency, Clients, Person-time, Person time Rate, adult chronic leukemia, mPLK, 3.2.2.6, DmMyD88, T10, Incidence Proportions, chronic lymphatic leukaemia, School Age Population, Cd38-rs1, incidence, CG7937, MYD88, infrequent, leukemia, 2'-phospho-ADP-ribosyl cyclase, NIM-R5 antigen, 2.4.99.20, AA408924, SLE1, TZK, cou, pelle, RnBP, MyD88, Attack Rate, Cumulative Incidence, SLEB1, frequency, Incidence, IRAK1-S, Chronic Lymphocytic Leukemia, DmMyd88, lymphoplasmacytic leukaemia, 311, GlcNAc 2-epimerase, Toll-Like Receptor, Il1rak, Secondary Attack, CD38, Tl3, Cistrons, Tl2, Client, lymphoplasmacytic leukemia, chronic, 8430405M07Rik, Cumulative Incidences, Incidence Rates, STCD, N-acetyl-D-glucosamine 2-epimerase, Lr, cyclic ADP-ribose hydrolase 1, 93Bal, 6330415L08Rik, School Age, AI649099, RENBP, Genetic Materials, chronic lymphatic leukemia, lymphocytic, Person-time Rate, TIL4, Kra, outbreaks, TIL3, Genetic Material, TLR2, Cyclic ADP-ribose hydrolase 1, small lymphocytic lymphoma, Populations, IRAK-1, c15, Toll-Like, frequent, IRAK-4, IRAK-2, mur, EP(2)2535, SRK, Srk, DmelCG7937, 70kDa, kra, surveillance, DMMYD88, morbidity, School Age Populations, endemics, REN64, AGE, LD20892, DmelCG2078, Secondary, Incidence Proportion, Hox11-311, 2'-phospho-ADP-ribosyl cyclase|2'-phospho-cyclic-ADP-ribose transferase, Patient, Material, NY-REN-64, Attack, MELIOS, Bra, renin-binding protein, Cistron, epidemics, chronic lymphocytic leukaemia, Receptor, School-Age Population, response, IPD1, Secondary Attack Rates, myd88d, ADP-ribosyl cyclase 1"],"additional_accession":[]},"is_claimable":false,"name":"U219-array-CLL-00001000772 - samples","description":"CLL Expression Array","dates":{"updated":"2020-08-12 09:57:47"},"accession":"EGAD00010000642","cross_references":{"TAXONOMY":["9606"],"pubmed":["24782504"],"EGA":["EGAC00001000010","EGAS00001000772"]}}