SwePub
Sök i LIBRIS databas

  Utökad sökning

WFRF:(Gellerbring Anna)
 

Sökning: WFRF:(Gellerbring Anna) > BTK and PLCG2 remai...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00009707naa a2200913 4500
001oai:DiVA.org:uu-511624
003SwePub
008230915s2023 | |||||||||||000 ||eng|
009oai:DiVA.org:kth-336055
009oai:prod.swepub.kib.ki.se:153591476
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-5116242 URI
0247 a https://doi.org/10.1182/bloodadvances.20220088212 DOI
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-3360552 URI
0247 a http://kipublications.ki.se/Default.aspx?queryparsed=id:1535914762 URI
040 a (SwePub)uud (SwePub)kthd (SwePub)ki
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Bonfiglio, Silviau IRCCS Osped San Raffaele, Ctr Omics Sci, Milan, Italy.;IRCCS Osped San Raffaele, Div Expt Oncol, B Cell Neoplasia Unit, Milan, Italy.4 aut
2451 0a BTK and PLCG2 remain unmutated in one-third of patients with CLL relapsing on ibrutinib
264 c 2023-01-25
264 1b American Society of Hematology,c 2023
338 a electronic2 rdacarrier
500 a QC 20230911
520 a Patients with chronic lymphocytic leukemia (CLL) progressing on ibrutinib constitute an unmet need. Though Bruton tyrosine kinase (BTK) and PLCG2 mutations are associated with ibrutinib resistance, their frequency and relevance to progression are not fully understood. In this multicenter retrospective observational study, we analyzed 98 patients with CLL on ibrutinib (49 relapsing after an initial response and 49 still responding after ≥1 year of continuous treatment) using a next-generation sequencing (NGS) panel (1% sensitivity) comprising 13 CLL-relevant genes including BTK and PLCG2. BTK hotspot mutations were validated by droplet digital polymerase chain reaction (ddPCR) (0.1% sensitivity). By integrating NGS and ddPCR results, 32 of 49 relapsing cases (65%) carried at least 1 hotspot BTK and/or PLCG2 mutation(s); in 6 of 32, BTK mutations were only detected by ddPCR (variant allele frequency [VAF] 0.1% to 1.2%). BTK/PLCG2 mutations were also identified in 6 of 49 responding patients (12%; 5/6 VAF <10%), of whom 2 progressed later. Among the relapsing patients, the BTK-mutated (BTKmut) group was enriched for EGR2 mutations, whereas BTK-wildtype (BTKwt) cases more frequently displayed BIRC3 and NFKBIE mutations. Using an extended capture-based panel, only BRAF and IKZF3 mutations showed a predominance in relapsing cases, who were enriched for del(8p) (n = 11; 3 BTKwt). Finally, no difference in TP53 mutation burden was observed between BTKmut and BTKwt relapsing cases, and ibrutinib treatment did not favor selection of TP53-aberrant clones. In conclusion, we show that BTK/PLCG2 mutations were absent in a substantial fraction (35%) of a real-world cohort failing ibrutinib, and propose additional mechanisms contributing to resistance.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Hematologi0 (SwePub)302022 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Hematology0 (SwePub)302022 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Cell- och molekylärbiologi0 (SwePub)301082 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Cell and Molecular Biology0 (SwePub)301082 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng
7001 a Sutton, Lesley-Annu Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.4 aut
7001 a Ljungström, Viktor,d 1986-u Uppsala universitet,Science for Life Laboratory, SciLifeLab,Cancerprecisionsmedicin,Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden4 aut0 (Swepub:uu)viklj600
7001 a Capasso, Antonellau IRCCS Osped San Raffaele, Strateg Res Program CLL, Milan, Italy.4 aut
7001 a Pandzic, Tatjanau Uppsala universitet,Science for Life Laboratory, SciLifeLab,Cancerprecisionsmedicin4 aut0 (Swepub:uu)tatdj291
7001 a Weström, Simoneu Uppsala universitet,Science for Life Laboratory, SciLifeLab,Cancerprecisionsmedicin4 aut0 (Swepub:uu)simku408
7001 a Foroughi-Asl, Hassanu Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.4 aut
7001 a Skaftason, Aronu Karolinska Institutet,Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.4 aut
7001 a Gellerbring, Annau Sci Life Lab, Clin Genom Stockholm, Solna, Sweden.;Karolinska Inst, Dept Microbiol Tumor & Cell Biol, Stockholm, Sweden.4 aut
7001 a Lyander, Annau KTH,Genteknologi,Science for Life Laboratory, SciLifeLab,Sci Life Lab, Clin Genom Stockholm, Solna, Sweden.;Karolinska Inst, Dept Microbiol Tumor & Cell Biol, Stockholm, Sweden.;KTH Royal Inst Technol, Sch Engn Sci Chem Biotechnol & Hlth, Stockholm, Sweden.4 aut0 (Swepub:kth)u1l0oby5
7001 a Gandini, Francescau IRCCS Osped San Raffaele, Div Expt Oncol, B Cell Neoplasia Unit, Milan, Italy.;Univ Vita Salute San Raffaele, Milan, Italy.4 aut
7001 a Gaidano, Gianlucau Univ Piemonte Orientale, Dept Translat Med, Div Hematol, Novara, Italy.4 aut
7001 a Trentin, Liviou Univ Padua, Dept Med Hematol & Clin Immunol, Padua, Italy.4 aut
7001 a Bonello, Lisau AOU Citta Salute & Sci, Mol Pathol Unit, Turin, Italy.;Univ Torino, Dept Mol Biotechnol & Hlth Sci, Turin, TO, Italy.4 aut
7001 a Reda, Gianluigiu Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dept Hematol, Milan, Italy.4 aut
7001 a Bodor, Csabau HCEMM SU Mol Oncohematol Res Grp, Budapest, Hungary.;Semmelweis Univ, Dept Pathol & Expt Canc Res 1, Budapest, Hungary.4 aut
7001 a Stavroyianni, Nikiu G Papanicolaou Hosp, Hematol Dept, Thessaloniki, Greece.;G Papanicolaou Hosp, HCT Unit, Thessaloniki, Greece.4 aut
7001 a Tam, Constantine S.u Alfred Hlth, Dept Hematol, Melbourne, Vic, Australia.;Monash Univ, Cent Clin Sch, Melbourne, Vic, Australia.4 aut
7001 a Marasca, Robertu Univ Modena & Reggio Emilia, Dept Med & Surg Sci, Hematol Unit, Modena, Italy.4 aut
7001 a Forconi, Francescou Univ Southampton, Fac Med, Sch Canc Sci, Southampton, England.;Univ Hosp Natl Hlth Serv Trust, Dept Hematol, Southampton, England.4 aut
7001 a Baliakas, Panagiotis,d 1977-u Uppsala universitet,Science for Life Laboratory, SciLifeLab,Cancerprecisionsmedicin4 aut0 (Swepub:uu)panba345
7001 a Ringshausen, Ingou Univ Cambridge, Dept Hematol, Cambridge, England.4 aut
7001 a Kaksic, Ozrenu Dubrava Univ Hosp, Zagreb, Croatia.4 aut
7001 a Frustaci, Anna Mariau ASST Grande Osped Metropolitano Niguarda, Niguarda Canc Ctr, Dept Hematol, Milan, Italy.4 aut
7001 a Iyengar, Sunilu Royal Marsden Hosp, Dept Haematooncol, London, England.4 aut
7001 a Coscia, Martau Univ Torino, Dept Mol Biotechnol & Hlth Sci, Turin, TO, Italy.;AOU Citta Salute & Sci Torino, Div Hematol, Turin, Italy.4 aut
7001 a Mulligan, Stephen P.u Univ Sydney, Royal North Shore Hosp, Dept Haematol, Sydney, Australia.4 aut
7001 a Ysebaert, Loicu Inst Univ Canc Oncopole Toulouse, Dept Hematol, Toulouse, France.4 aut
7001 a Strugov, Vladimiru Almazov Natl Med Res Ctr, St Petersburg, Russia.4 aut
7001 a Pavlovsky, Carolinau FUNDALEU, Clin Res Ctr, Buenos Aires, Argentina.4 aut
7001 a Walewska, Renetau Univ Hosp Dorset, Dept Mol Pathol, Bournemouth, England.4 aut
7001 a Österborg, Andersu Karolinska Institutet,Karolinska Univ Hosp, Dept Hematol, Stockholm, Sweden.4 aut
7001 a Cortese, Diegou Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.4 aut
7001 a Ranghetti, Pamelau IRCCS Osped San Raffaele, Div Expt Oncol, B Cell Neoplasia Unit, Milan, Italy.4 aut
7001 a Baliakas, Panagiotis,d 1977-u Uppsala universitet,Science for Life Laboratory, SciLifeLab,Cancerprecisionsmedicin4 aut0 (Swepub:uu)panba345
7001 a Stamatopoulos, Kostasu Karolinska Institutet,Ctr Res & Technol Hellas, Inst Appl Biosci, Thessaloniki, Greece.4 aut
7001 a Scarfò, Lydiau IRCCS Osped San Raffaele, Div Expt Oncol, B Cell Neoplasia Unit, Milan, Italy.;IRCCS Osped San Raffaele, Strateg Res Program CLL, Milan, Italy.;Univ Vita Salute San Raffaele, Milan, Italy.4 aut
7001 a Rosenquist, Richardu Karolinska Institutet,Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.;Karolinska Univ Hosp, Clin Genet, Stockholm, Sweden.4 aut
7001 a Ghia, Paolou IRCCS Osped San Raffaele, Div Expt Oncol, B Cell Neoplasia Unit, Milan, Italy.;IRCCS Osped San Raffaele, Strateg Res Program CLL, Milan, Italy.;Univ Vita Salute San Raffaele, Milan, Italy.4 aut
7102 a IRCCS Osped San Raffaele, Ctr Omics Sci, Milan, Italy.;IRCCS Osped San Raffaele, Div Expt Oncol, B Cell Neoplasia Unit, Milan, Italy.b Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.4 org
7730 t Blood Advancesd : American Society of Hematologyg 7:12, s. 2794-2806q 7:12<2794-2806x 2473-9529x 2473-9537
8564 u https://doi.org/10.1182/bloodadvances.2022008821y Fulltext
8564 u https://uu.diva-portal.org/smash/get/diva2:1797532/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
8564 u https://doi.org/10.17044/scilifelab.19721998y Data set
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-511624
8564 8u https://doi.org/10.1182/bloodadvances.2022008821
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-336055
8564 8u http://kipublications.ki.se/Default.aspx?queryparsed=id:153591476

Hitta via bibliotek

Till lärosätets databas

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy