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Chronic Lymphocytic Leukemia with Immunoglobulin Heavy Chain Variable-Region Gene Somatic Hypermutation

MedGen UID:
232077
Concept ID:
C1333039
Neoplastic Process
Synonym: Postgerminal Center Chronic Lymphocytic Leukemia

Definition

Chronic lymphocytic leukemia characterized by the presence of somatic hypermutation within the immunoglobulin heavy chain gene variable region of neoplastic clones. Patients have a better prognosis as compared to those with unmutated immunoglobulin heavy chain gene variable region rearrangements. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChronic Lymphocytic Leukemia with Immunoglobulin Heavy Chain Variable-Region Gene Somatic Hypermutation

Professional guidelines

PubMed

Nardini E, Neri F, Vicenzi E, Poli G, Capello D, Gaidano G, Vitolo U, Ménard S, Balsari A
Int J Cancer 2003 Dec 20;107(6):958-61. doi: 10.1002/ijc.11482. PMID: 14601055

Recent clinical studies

Etiology

Davi F, Langerak AW, de Septenville AL, Kolijn PM, Hengeveld PJ, Chatzidimitriou A, Bonfiglio S, Sutton LA, Rosenquist R, Ghia P, Stamatopoulos K; ERIC, the European Research Initiative on CLL, and the EuroClonality-NGS Working Group
Leukemia 2020 Oct;34(10):2545-2551. Epub 2020 Jun 19 doi: 10.1038/s41375-020-0923-9. PMID: 32561841Free PMC Article
Siddon AJ, Rinder HM; Education Committee of the Academy of Clinical Laboratory Physicians and Scientists
Am J Clin Pathol 2013 Jun;139(6):708-12. doi: 10.1309/AJCPLIR4GZWX3XKA. PMID: 23690112
Stanganelli C, Travella A, Bezares R, Slavutsky I
Clin Lymphoma Myeloma Leuk 2013 Aug;13(4):447-457.e2. Epub 2013 May 9 doi: 10.1016/j.clml.2013.02.019. PMID: 23665144
Hojjat-Farsangi M, Jeddi-Tehrani M, Razavi SM, Sharifian RA, Mellstedt H, Shokri F, Rabbani H
Cancer Sci 2009 Dec;100(12):2346-53. Epub 2009 Sep 2 doi: 10.1111/j.1349-7006.2009.01341.x. PMID: 19824994
Brown JR
Expert Rev Hematol 2008 Oct;1(1):51-61. doi: 10.1586/17474086.1.1.51. PMID: 19802369Free PMC Article

Diagnosis

Paul P, Stüssi G, Bruscaggin A, Rossi D
Leuk Lymphoma 2023 Mar;64(3):551-563. Epub 2022 Dec 12 doi: 10.1080/10428194.2022.2153359. PMID: 36503384
Xochelli A, Baliakas P, Kavakiotis I, Agathangelidis A, Sutton LA, Minga E, Ntoufa S, Tausch E, Yan XJ, Shanafelt T, Plevova K, Boudjogra M, Rossi D, Davis Z, Navarro A, Sandberg Y, Vojdeman FJ, Scarfo L, Stavroyianni N, Sudarikov A, Veronese S, Tzenou T, Karan-Djurasevic T, Catherwood M, Kienle D, Chatzouli M, Facco M, Bahlo J, Pott C, Pedersen LB, Mansouri L, Smedby KE, Chu CC, Giudicelli V, Lefranc MP, Panagiotidis P, Juliusson G, Anagnostopoulos A, Vlahavas I, Antic D, Trentin L, Montillo M, Niemann C, Döhner H, Langerak AW, Pospisilova S, Hallek M, Campo E, Chiorazzi N, Maglaveras N, Oscier D, Gaidano G, Jelinek DF, Stilgenbauer S, Chouvarda I, Darzentas N, Belessi C, Davi F, Hadzidimitriou A, Rosenquist R, Ghia P, Stamatopoulos K
Clin Cancer Res 2017 Sep 1;23(17):5292-5301. Epub 2017 May 23 doi: 10.1158/1078-0432.CCR-16-3100. PMID: 28536306
René C, Prat N, Thuizat A, Broctawik M, Avinens O, Eliaou JF
J Cell Mol Med 2014 Jun;18(6):979-90. Epub 2014 Apr 11 doi: 10.1111/jcmm.12215. PMID: 24725733Free PMC Article
Siddon AJ, Rinder HM; Education Committee of the Academy of Clinical Laboratory Physicians and Scientists
Am J Clin Pathol 2013 Jun;139(6):708-12. doi: 10.1309/AJCPLIR4GZWX3XKA. PMID: 23690112
Gaidano G, Foà R, Dalla-Favera R
J Clin Invest 2012 Oct;122(10):3432-8. Epub 2012 Oct 1 doi: 10.1172/JCI64101. PMID: 23023714Free PMC Article

Therapy

Jain P, Nogueras González GM, Kanagal-Shamanna R, Rozovski U, Sarwari N, Tam C, Wierda WG, Thompson PA, Jain N, Luthra R, Quesada A, Sanchez-Petitto G, Ferrajoli A, Burger J, Kantarjian H, Cortes J, O'Brien S, Keating MJ, Estrov Z
Br J Haematol 2018 Jan;180(1):33-40. Epub 2017 Nov 21 doi: 10.1111/bjh.15018. PMID: 29164608Free PMC Article
Blachly JS, Ruppert AS, Zhao W, Long S, Flynn J, Flinn I, Jones J, Maddocks K, Andritsos L, Ghia EM, Rassenti LZ, Kipps TJ, de la Chapelle A, Byrd JC
Proc Natl Acad Sci U S A 2015 Apr 7;112(14):4322-7. Epub 2015 Mar 18 doi: 10.1073/pnas.1503587112. PMID: 25787252Free PMC Article
Arons E, Roth L, Sapolsky J, Suntum T, Stetler-Stevenson M, Kreitman RJ
Blood 2011 May 5;117(18):4844-51. Epub 2011 Mar 2 doi: 10.1182/blood-2010-11-316737. PMID: 21368287Free PMC Article
Bilous N, Bomben R, Dal Bo M, Capello D, Forconi F, Laurenti L, Bertoni F, Efremov DG, Marasca R, Del Poeta G, Martina Z, Kryachouk I, Dyagil I, Gaidano G, Chumak A, Gattei V, Abramenko I
Leuk Lymphoma 2010 May;51(5):822-38. doi: 10.3109/10428191003646002. PMID: 20233059
Bomben R, Dal Bo M, Capello D, Forconi F, Maffei R, Laurenti L, Rossi D, Del Principe MI, Zucchetto A, Bertoni F, Rossi FM, Bulian P, Cattarossi I, Ilariucci F, Sozzi E, Spina V, Zucca E, Degan M, Lauria F, Del Poeta G, Efremov DG, Marasca R, Gaidano G, Gattei V
Br J Haematol 2009 Feb;144(4):492-506. Epub 2008 Nov 19 doi: 10.1111/j.1365-2141.2008.07469.x. PMID: 19036101

Prognosis

Paul P, Stüssi G, Bruscaggin A, Rossi D
Leuk Lymphoma 2023 Mar;64(3):551-563. Epub 2022 Dec 12 doi: 10.1080/10428194.2022.2153359. PMID: 36503384
Siddon AJ, Rinder HM; Education Committee of the Academy of Clinical Laboratory Physicians and Scientists
Am J Clin Pathol 2013 Jun;139(6):708-12. doi: 10.1309/AJCPLIR4GZWX3XKA. PMID: 23690112
Gaidano G, Foà R, Dalla-Favera R
J Clin Invest 2012 Oct;122(10):3432-8. Epub 2012 Oct 1 doi: 10.1172/JCI64101. PMID: 23023714Free PMC Article
Brown JR
Expert Rev Hematol 2008 Oct;1(1):51-61. doi: 10.1586/17474086.1.1.51. PMID: 19802369Free PMC Article
Oppezzo P, Dighiero G
Curr Top Microbiol Immunol 2005;294:71-89. doi: 10.1007/3-540-29933-5_5. PMID: 16323428

Clinical prediction guides

Ye X, Ren W, Liu D, Li X, Li W, Wang X, Meng FL, Yeap LS, Hou Y, Zhu S, Casellas R, Zhang H, Wu K, Pan-Hammarström Q
J Exp Med 2021 Feb 1;218(2) doi: 10.1084/jem.20200573. PMID: 33136155Free PMC Article
Xochelli A, Baliakas P, Kavakiotis I, Agathangelidis A, Sutton LA, Minga E, Ntoufa S, Tausch E, Yan XJ, Shanafelt T, Plevova K, Boudjogra M, Rossi D, Davis Z, Navarro A, Sandberg Y, Vojdeman FJ, Scarfo L, Stavroyianni N, Sudarikov A, Veronese S, Tzenou T, Karan-Djurasevic T, Catherwood M, Kienle D, Chatzouli M, Facco M, Bahlo J, Pott C, Pedersen LB, Mansouri L, Smedby KE, Chu CC, Giudicelli V, Lefranc MP, Panagiotidis P, Juliusson G, Anagnostopoulos A, Vlahavas I, Antic D, Trentin L, Montillo M, Niemann C, Döhner H, Langerak AW, Pospisilova S, Hallek M, Campo E, Chiorazzi N, Maglaveras N, Oscier D, Gaidano G, Jelinek DF, Stilgenbauer S, Chouvarda I, Darzentas N, Belessi C, Davi F, Hadzidimitriou A, Rosenquist R, Ghia P, Stamatopoulos K
Clin Cancer Res 2017 Sep 1;23(17):5292-5301. Epub 2017 May 23 doi: 10.1158/1078-0432.CCR-16-3100. PMID: 28536306
Siddon AJ, Rinder HM; Education Committee of the Academy of Clinical Laboratory Physicians and Scientists
Am J Clin Pathol 2013 Jun;139(6):708-12. doi: 10.1309/AJCPLIR4GZWX3XKA. PMID: 23690112
Stanganelli C, Travella A, Bezares R, Slavutsky I
Clin Lymphoma Myeloma Leuk 2013 Aug;13(4):447-457.e2. Epub 2013 May 9 doi: 10.1016/j.clml.2013.02.019. PMID: 23665144
Oppezzo P, Dighiero G
Curr Top Microbiol Immunol 2005;294:71-89. doi: 10.1007/3-540-29933-5_5. PMID: 16323428

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