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Chronic lymphatic leukemia(CLL)

MedGen UID:
44120
Concept ID:
C0023434
Neoplastic Process
Synonyms: B-cell chronic lymphocytic leukemia; Chronic lymphocytic leukemia; Familial Chronic Lymphocytic Leukemia; Leukemia, B-cell, chronic
SNOMED CT: CLL - Chronic lymphocytic leukemia (92814006); Chronic lymphoid leukemia (92814006); Chronic lymphocytic leukemia, B-cell type (51092000); B-cell chronic lymphocytic leukemia/small lymphocytic lymphoma (51092000); Malignant lymphoma lymphocytic well differentiated diffuse (51092000); B-cell chronic lymphocytic leukemia/small lymphocytic lymphoma (92814006); B-cell chronic lymphocytic leukemia (92814006); B-cell CLL/SLL (chronic lymphocytic leukemia/small lymphocytic lymphoma) (92814006); Chronic lymphoid leukemia, disease (92814006); Chronic lymphocytic leukemia (51092000); Chronic lymphoid leukemia (51092000); Chronic lymphatic leukemia (51092000)
Modes of inheritance:
Non-Mendelian inheritance
MedGen UID:
109109
Concept ID:
C0600599
Genetic Function
Source: Orphanet
A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
HPO: HP:0005550
Monarch Initiative: MONDO:0004948
OMIM®: 151400
Orphanet: ORPHA67038

Definition

Chronic lymphocytic leukemia (CLL) is a common neoplasia of B lymphocytes in which these cells progressively accumulate in the bone marrow, blood, and lymphoid tissues. The clinical evolution of the disorder is heterogeneous, with some patients having indolent disease and others having aggressive disease and short survival (summary by Quesada et al., 2012). Genetic Heterogeneity of Susceptibility to Chronic Lymphocytic Leukemia Susceptibility loci have been mapped to chromosomes 11p11 (CLLS1; 609630) and 13q14 (CLLS2; 109543) by genomewide linkage analysis and translocation studies, respectively. Susceptibility mapping to chromosome 9q34 (CLLS3; 612557) is associated with downregulation of the DAPK1 gene (600831). Genomewide association studies have identified susceptibility loci on chromosomes 6p25.3 (CLLS4; 612558) and 11q24.1 (CLLS5; 612559). [from OMIM]

Clinical features

From HPO
Chronic lymphatic leukemia
MedGen UID:
44120
Concept ID:
C0023434
Neoplastic Process
Chronic lymphocytic leukemia (CLL) is a common neoplasia of B lymphocytes in which these cells progressively accumulate in the bone marrow, blood, and lymphoid tissues. The clinical evolution of the disorder is heterogeneous, with some patients having indolent disease and others having aggressive disease and short survival (summary by Quesada et al., 2012). Genetic Heterogeneity of Susceptibility to Chronic Lymphocytic Leukemia Susceptibility loci have been mapped to chromosomes 11p11 (CLLS1; 609630) and 13q14 (CLLS2; 109543) by genomewide linkage analysis and translocation studies, respectively. Susceptibility mapping to chromosome 9q34 (CLLS3; 612557) is associated with downregulation of the DAPK1 gene (600831). Genomewide association studies have identified susceptibility loci on chromosomes 6p25.3 (CLLS4; 612558) and 11q24.1 (CLLS5; 612559).
Cellular immunodeficiency
MedGen UID:
344444
Concept ID:
C1855204
Finding
An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity.

Conditions with this feature

Chronic lymphatic leukemia
MedGen UID:
44120
Concept ID:
C0023434
Neoplastic Process
Chronic lymphocytic leukemia (CLL) is a common neoplasia of B lymphocytes in which these cells progressively accumulate in the bone marrow, blood, and lymphoid tissues. The clinical evolution of the disorder is heterogeneous, with some patients having indolent disease and others having aggressive disease and short survival (summary by Quesada et al., 2012). Genetic Heterogeneity of Susceptibility to Chronic Lymphocytic Leukemia Susceptibility loci have been mapped to chromosomes 11p11 (CLLS1; 609630) and 13q14 (CLLS2; 109543) by genomewide linkage analysis and translocation studies, respectively. Susceptibility mapping to chromosome 9q34 (CLLS3; 612557) is associated with downregulation of the DAPK1 gene (600831). Genomewide association studies have identified susceptibility loci on chromosomes 6p25.3 (CLLS4; 612558) and 11q24.1 (CLLS5; 612559).
Leukemia, chronic lymphocytic, susceptibility to, 2
MedGen UID:
358385
Concept ID:
C1868683
Finding
Immunodeficiency 36
MedGen UID:
863371
Concept ID:
C4014934
Disease or Syndrome
Immunodeficiency-36 with lymphoproliferation (IMD36) is an autosomal dominant primary immunodeficiency with a highly heterogeneous clinical phenotype, characterized primarily by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency. Other features include growth retardation, mild neurodevelopmental delay, and autoimmunity. The major complication is development of B-cell lymphoma (Elkaim et al., 2016).

Professional guidelines

PubMed

Tresckow JV, Eichhorst B, Bahlo J, Hallek M
Dtsch Arztebl Int 2019 Jan 25;116(4):41-46. doi: 10.3238/arztebl.2019.0041. PMID: 30855005Free PMC Article
Haschke-Becher E, Vockenhuber M, Niedetzky P, Totzke U, Gabriel C
Clin Chem Lab Med 2008;46(1):85-8. doi: 10.1515/CCLM.2008.012. PMID: 18020973
Naresh KN, Advani S, Adde M, Aziz Z, Banavali S, Bhatia K, Belgaumi A, Ezzat A, Khaled H, Mokhtar N, Norton A, Rohatiner A, Sagar TG, Taciyliz N, Temmim L, Venkatesh C, Yan Tang J, Magrath I
Blood Cells Mol Dis 2004 Nov-Dec;33(3):330-7. doi: 10.1016/j.bcmd.2004.08.001. PMID: 15528153

Recent clinical studies

Etiology

Greenberger PA
Allergy Asthma Proc 2019 Nov 1;40(6):474-479. doi: 10.2500/aap.2019.40.4275. PMID: 31690398
Elbæk MV, Sørensen AL, Hasselbalch HC
Leuk Lymphoma 2016 Aug;57(8):1793-9. Epub 2016 Feb 16 doi: 10.3109/10428194.2016.1143938. PMID: 26879691
Greenberger PA
Allergy Asthma Proc 2012 May-Jun;33 Suppl 1:103-107. doi: 10.2500/aap.2012.33.3563. PMID: 22794703
Sant M, Allemani C, Tereanu C, De Angelis R, Capocaccia R, Visser O, Marcos-Gragera R, Maynadié M, Simonetti A, Lutz JM, Berrino F; HAEMACARE Working Group
Blood 2010 Nov 11;116(19):3724-34. Epub 2010 Jul 27 doi: 10.1182/blood-2010-05-282632. PMID: 20664057
Kennedy BJ, Torkelson JL, Torlakovic E
Cancer 1999 May 15;85(10):2265-72. PMID: 10326707

Diagnosis

Greenberger PA
Allergy Asthma Proc 2019 Nov 1;40(6):474-479. doi: 10.2500/aap.2019.40.4275. PMID: 31690398
Tresckow JV, Eichhorst B, Bahlo J, Hallek M
Dtsch Arztebl Int 2019 Jan 25;116(4):41-46. doi: 10.3238/arztebl.2019.0041. PMID: 30855005Free PMC Article
Elbæk MV, Sørensen AL, Hasselbalch HC
Leuk Lymphoma 2016 Aug;57(8):1793-9. Epub 2016 Feb 16 doi: 10.3109/10428194.2016.1143938. PMID: 26879691
Greenberger PA
Allergy Asthma Proc 2012 May-Jun;33 Suppl 1:103-107. doi: 10.2500/aap.2012.33.3563. PMID: 22794703
Sant M, Allemani C, Tereanu C, De Angelis R, Capocaccia R, Visser O, Marcos-Gragera R, Maynadié M, Simonetti A, Lutz JM, Berrino F; HAEMACARE Working Group
Blood 2010 Nov 11;116(19):3724-34. Epub 2010 Jul 27 doi: 10.1182/blood-2010-05-282632. PMID: 20664057

Therapy

Dolgikh TY, Sholenberg EV, Kachesov IV, Senchukova SR
Bull Exp Biol Med 2018 Jan;164(3):382-385. Epub 2018 Jan 8 doi: 10.1007/s10517-018-3994-0. PMID: 29308562
Elbæk MV, Sørensen AL, Hasselbalch HC
Leuk Lymphoma 2016 Aug;57(8):1793-9. Epub 2016 Feb 16 doi: 10.3109/10428194.2016.1143938. PMID: 26879691
Węsierska-Gądek J, Maurer M
Curr Pharm Des 2011;17(3):256-71. doi: 10.2174/138161211795049714. PMID: 21348827
Costantini AS, Benvenuti A, Vineis P, Kriebel D, Tumino R, Ramazzotti V, Rodella S, Stagnaro E, Crosignani P, Amadori D, Mirabelli D, Sommani L, Belletti I, Troschel L, Romeo L, Miceli G, Tozzi GA, Mendico I, Maltoni SA, Miligi L
Am J Ind Med 2008 Nov;51(11):803-11. doi: 10.1002/ajim.20592. PMID: 18651579
Kennedy BJ, Torkelson JL, Torlakovic E
Cancer 1999 May 15;85(10):2265-72. PMID: 10326707

Prognosis

Tresckow JV, Eichhorst B, Bahlo J, Hallek M
Dtsch Arztebl Int 2019 Jan 25;116(4):41-46. doi: 10.3238/arztebl.2019.0041. PMID: 30855005Free PMC Article
Bonzini M, Grillo P, Consonni D, Cacace R, Ancona C, Forastiere F, Cocco PL, Satta G, Boldori L, Carugno M, Pesatori CA
Med Lav 2019 Feb 22;110(1):3-10. doi: 10.23749/mdl.v110i1.7842. PMID: 30794243Free PMC Article
Sant M, Allemani C, Tereanu C, De Angelis R, Capocaccia R, Visser O, Marcos-Gragera R, Maynadié M, Simonetti A, Lutz JM, Berrino F; HAEMACARE Working Group
Blood 2010 Nov 11;116(19):3724-34. Epub 2010 Jul 27 doi: 10.1182/blood-2010-05-282632. PMID: 20664057
Haschke-Becher E, Vockenhuber M, Niedetzky P, Totzke U, Gabriel C
Clin Chem Lab Med 2008;46(1):85-8. doi: 10.1515/CCLM.2008.012. PMID: 18020973
Kennedy BJ, Torkelson JL, Torlakovic E
Cancer 1999 May 15;85(10):2265-72. PMID: 10326707

Clinical prediction guides

Pascale SP, Nuccorini R, Pierri T, Di Mare R, Fabio L, Lerose E, Merlino MA, Schiavo P, Amendola A, Brucoli G, Caputo MD, Chitarrelli I, Cimminiello M, Coluzzi S, Filardi NB, Matturro A, Vertone D, Poggiaspalla M, Malaspina F, Musuraca G, Coralluzzo G, Mannarella C, Musto C, Bellettieri AP, Martinelli G, Cerchione C, Pizzuti M
Front Immunol 2022;13:892331. Epub 2022 Aug 8 doi: 10.3389/fimmu.2022.892331. PMID: 36003404Free PMC Article
Bonzini M, Grillo P, Consonni D, Cacace R, Ancona C, Forastiere F, Cocco PL, Satta G, Boldori L, Carugno M, Pesatori CA
Med Lav 2019 Feb 22;110(1):3-10. doi: 10.23749/mdl.v110i1.7842. PMID: 30794243Free PMC Article
Dolgikh TY, Sholenberg EV, Kachesov IV, Senchukova SR
Bull Exp Biol Med 2018 Jan;164(3):382-385. Epub 2018 Jan 8 doi: 10.1007/s10517-018-3994-0. PMID: 29308562
Costantini AS, Benvenuti A, Vineis P, Kriebel D, Tumino R, Ramazzotti V, Rodella S, Stagnaro E, Crosignani P, Amadori D, Mirabelli D, Sommani L, Belletti I, Troschel L, Romeo L, Miceli G, Tozzi GA, Mendico I, Maltoni SA, Miligi L
Am J Ind Med 2008 Nov;51(11):803-11. doi: 10.1002/ajim.20592. PMID: 18651579
Haschke-Becher E, Vockenhuber M, Niedetzky P, Totzke U, Gabriel C
Clin Chem Lab Med 2008;46(1):85-8. doi: 10.1515/CCLM.2008.012. PMID: 18020973

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