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Chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation

MedGen UID:
232076
Concept ID:
C1333037
Neoplastic Process
Synonyms: Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma with Immunoglobulin Heavy Chain Variable-Region Gene Somatic Hypermutation; chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation; CLL/SLL with IGVH SHM; Postgerminal Center Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma; postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma; postgerminal centre chronic lymphocytic leukemia/small lymphocytic lymphoma
 
Monarch Initiative: MONDO:0004152

Definition

A recently recognized variant of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) expressing somatic hypermutations of the Immunoglobulin heavy chain (IGH) genes. The recognition of this variant alters the belief that CLL/SLL is always derived from a naive, pregerminal center B-cell. The presence of somatic hypermutations of IGH genes occurs in approximately 50% of CLL/SLL cases and implies a postgerminal center, memory origin. Patients with this variant of CLL/SLL have a favorable prognosis, with a reported median survival of more than 24 years. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChronic lymphocytic leukemia/small lymphocytic lymphoma 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
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: 19824994Free PMC Article
Brown JR
Expert Rev Hematol 2008 Oct;1(1):51-61. doi: 10.1586/17474086.1.1.51. PMID: 19802369Free PMC Article
Schade U, Bock O, Vornhusen S, Jäger A, Büsche G, Lehmann U, Kreipe H
Hum Pathol 2006 Sep;37(9):1153-61. Epub 2006 Jul 7 doi: 10.1016/j.humpath.2006.04.016. PMID: 16938520

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

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
Gattazzo C, Martini V, Frezzato F, Trimarco V, Tibaldi E, Castelli M, Facco M, Zonta F, Brunati AM, Zambello R, Semenzato G, Trentin L
Haematologica 2014 Jun;99(6):1069-77. Epub 2014 Feb 14 doi: 10.3324/haematol.2013.090183. PMID: 24532043Free 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
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: 19824994Free PMC Article
Brown JR
Expert Rev Hematol 2008 Oct;1(1):51-61. doi: 10.1586/17474086.1.1.51. PMID: 19802369Free PMC Article

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
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
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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