Recurrent Switch 2 Domain RAC2 Mutations in Intravascular Large B-cell Lymphoma

Overview

Journal Blood Adv

Specialty Hematology

Date 2022 Apr 8

PMID 35395066

Authors

Rohan Kodgule

Jie Chen

Pooja Khonde

Joshua Robinson

Amy DAlbora

Lisa Cook

Catrina C Fronick

Robert Fulton

Sridhar Nonavinkere Srivatsan

Patrick J Cimino

Eric J Duncavage

Affiliations

Soon will be listed here.

Citing Articles

Spheroid culture to select theoretical therapeutic drugs in intravascular large B-cell lymphoma.

Takai M, Shimada K, Furukawa K, Yamaga Y, Yoshiyama S, Kagaya Y Cancer Sci. 2024; 116(1):214-225.

PMID: 39428323 PMC: 11711046. DOI: 10.1111/cas.16310.

The Diverse Roles of ETV6 Alterations in B-Lymphoblastic Leukemia and Other Hematopoietic Cancers.

Monovich A, Gurumurthy A, Ryan R Adv Exp Med Biol. 2024; 1459:291-320.

PMID: 39017849 DOI: 10.1007/978-3-031-62731-6_13.

Whole-exome sequencing is feasible on a fresh-frozen skin sample of intravascular large B cell lymphoma.

Bagnoli F, Pini G, Ziccheddu B, Bonometti A, Alberti-Violetti S, Venegoni L Clin Exp Med. 2024; 24(1):51.

PMID: 38441683 PMC: 10914893. DOI: 10.1007/s10238-024-01308-0.

References

Chapuy B, Stewart C, Dunford A, Kim J, Kamburov A, Redd R . Molecular subtypes of diffuse large B cell lymphoma are associated with distinct pathogenic mechanisms and outcomes. Nat Med. 2018; 24(5):679-690. PMC: 6613387. DOI: 10.1038/s41591-018-0016-8. View

Krysiak K, Gomez F, White B, Matlock M, Miller C, Trani L . Recurrent somatic mutations affecting B-cell receptor signaling pathway genes in follicular lymphoma. Blood. 2017; 129(4):473-483. PMC: 5270390. DOI: 10.1182/blood-2016-07-729954. View

Suehara Y, Sakata-Yanagimoto M, Hattori K, Nanmoku T, Itoh T, Kaji D . Liquid biopsy for the identification of intravascular large B-cell lymphoma. Haematologica. 2018; 103(6):e241-e244. PMC: 6058794. DOI: 10.3324/haematol.2017.178830. View

Hsu A, Donko A, Arrington M, Swamydas M, Fink D, Das A . Dominant activating RAC2 mutation with lymphopenia, immunodeficiency, and cytoskeletal defects. Blood. 2019; 133(18):1977-1988. PMC: 6497516. DOI: 10.1182/blood-2018-11-886028. View

Wright G, Huang D, Phelan J, Coulibaly Z, Roulland S, Young R . A Probabilistic Classification Tool for Genetic Subtypes of Diffuse Large B Cell Lymphoma with Therapeutic Implications. Cancer Cell. 2020; 37(4):551-568.e14. PMC: 8459709. DOI: 10.1016/j.ccell.2020.03.015. View

Gerasimcik N, He M, Dahlberg C, Kuznetsov N, Severinson E, Westerberg L . The Small Rho GTPases Rac1 and Rac2 Are Important for T-Cell Independent Antigen Responses and for Suppressing Switching to IgG2b in Mice. Front Immunol. 2017; 8:1264. PMC: 5635268. DOI: 10.3389/fimmu.2017.01264. View

Wu W, Wang W, Franzen C, Guo H, Lee J, Li Y . Inhibition of B-cell receptor signaling disrupts cell adhesion in mantle cell lymphoma via RAC2. Blood Adv. 2021; 5(1):185-197. PMC: 7805322. DOI: 10.1182/bloodadvances.2020001665. View

Alkodsi A, Cervera A, Zhang K, Louhimo R, Meriranta L, Pasanen A . Distinct subtypes of diffuse large B-cell lymphoma defined by hypermutated genes. Leukemia. 2019; 33(11):2662-2672. DOI: 10.1038/s41375-019-0509-6. View

Choi J, Phelan J, Wright G, Haupl B, Huang D, Shaffer 3rd A . Regulation of B cell receptor-dependent NF-κB signaling by the tumor suppressor KLHL14. Proc Natl Acad Sci U S A. 2020; 117(11):6092-6102. PMC: 7084139. DOI: 10.1073/pnas.1921187117. View

10.

Croker B, Tarlinton D, Cluse L, Tuxen A, Light A, Yang F . The Rac2 guanosine triphosphatase regulates B lymphocyte antigen receptor responses and chemotaxis and is required for establishment of B-1a and marginal zone B lymphocytes. J Immunol. 2002; 168(7):3376-86. DOI: 10.4049/jimmunol.168.7.3376. View

11.

Arrington M, Temple B, Schaefer A, Campbell S . The molecular basis for immune dysregulation by the hyperactivated E62K mutant of the GTPase RAC2. J Biol Chem. 2020; 295(34):12130-12142. PMC: 7443499. DOI: 10.1074/jbc.RA120.012915. View

12.

Mayakonda A, Lin D, Assenov Y, Plass C, Koeffler H . Maftools: efficient and comprehensive analysis of somatic variants in cancer. Genome Res. 2018; 28(11):1747-1756. PMC: 6211645. DOI: 10.1101/gr.239244.118. View

13.

Schmitz R, Wright G, Huang D, Johnson C, Phelan J, Wang J . Genetics and Pathogenesis of Diffuse Large B-Cell Lymphoma. N Engl J Med. 2018; 378(15):1396-1407. PMC: 6010183. DOI: 10.1056/NEJMoa1801445. View

14.

Wang K, Li M, Hakonarson H . ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 2010; 38(16):e164. PMC: 2938201. DOI: 10.1093/nar/gkq603. View

15.

Talevich E, Shain A, Botton T, Bastian B . CNVkit: Genome-Wide Copy Number Detection and Visualization from Targeted DNA Sequencing. PLoS Comput Biol. 2016; 12(4):e1004873. PMC: 4839673. DOI: 10.1371/journal.pcbi.1004873. View

16.

Shimada K, Yoshida K, Suzuki Y, Iriyama C, Inoue Y, Sanada M . Frequent genetic alterations in immune checkpoint-related genes in intravascular large B-cell lymphoma. Blood. 2021; 137(11):1491-1502. PMC: 7976508. DOI: 10.1182/blood.2020007245. View

17.

Arana E, Vehlow A, Harwood N, Vigorito E, Henderson R, Turner M . Activation of the small GTPase Rac2 via the B cell receptor regulates B cell adhesion and immunological-synapse formation. Immunity. 2008; 28(1):88-99. DOI: 10.1016/j.immuni.2007.12.003. View

18.

Bunney T, Opaleye O, Roe S, Vatter P, Baxendale R, Walliser C . Structural insights into formation of an active signaling complex between Rac and phospholipase C gamma 2. Mol Cell. 2009; 34(2):223-33. DOI: 10.1016/j.molcel.2009.02.023. View

19.

Meacham C, Ho E, Dubrovsky E, Gertler F, Hemann M . In vivo RNAi screening identifies regulators of actin dynamics as key determinants of lymphoma progression. Nat Genet. 2009; 41(10):1133-7. PMC: 2756700. DOI: 10.1038/ng.451. View

20.

Schrader A, Jansen P, Willemze R, Vermeer M, Cleton-Jansen A, Somers S . High prevalence of and mutations in intravascular large B-cell lymphoma. Blood. 2018; 131(18):2086-2089. DOI: 10.1182/blood-2017-12-822817. View