Online citations, reference lists, and bibliographies.

Genetic Predisposition To Non-Hodgkin Lymphoma

O. Haas, A. Borkhardt
Published 2019 · Medicine

Cite This
Download PDF
Analyze on Scholarcy
Share
Lymphoma develops in children commonly as an unfortunate consequence of a genetically and developmentally disturbed immune system that is incapable to appropriately adapt to and cope with certain environmental factors and to ward off specific infectious agents. According to current estimates, already well-defined single-gene defects affect up to two-thirds of children with non-Hodgkin lymphomas (NHL). Such mutations disrupt primarily components that are part of various immune and functionally closely related DNA repair pathways. Although many of them concur with clinically recognizable physical abnormalities and hematopoietic disturbances, their enormous heterogeneity and ensuing individual rarity, and their often-incomplete penetrance and striking variable expressivity together with incomplete family histories, small families and the possibility of de novo mutations pose nevertheless a considerable diagnostic challenge, which nowadays can be approached with appropriate screening methods and sequencing tools. Considering the increasing interest in germline defects that predispose to childhood malignancies, we believe that the implementation and embedment of systematic analyses in the respective lymphoma treatment studies would be an especially rewarding endeavor, since the knowledge of their presence can guide the clinical management of affected patients; enable carrier screening, family counseling, and planning; as well as facilitate clinical surveillance and the application of preventive measures.
This paper references
10.3389/fimmu.2018.00198
Impaired Control of Epstein–Barr Virus Infection in B-Cell Expansion with NF-κB and T-Cell Anergy Disease
Swadhinya Arjunaraja (2018)
10.5847/wjem.j.issn.1920-8642.2013.02.008
Perforin gene mutations in 77 Chinese patients with lymphomas
Qi Ding (2013)
10.1111/nyas.12049
Wiskott-Aldrich syndrome: a comprehensive review.
M. Massaad (2013)
10.1038/ng.626
Genome-wide association study of follicular lymphoma identifies a risk locus at 6p21.32
L. Conde (2010)
10.3389/fimmu.2018.01103
Inherited Immunodeficiencies With High Predisposition to Epstein–Barr Virus-Driven Lymphoproliferative Diseases
S. Latour (2018)
10.1182/BLOOD-2004-04-1477
A proportion of patients with lymphoma may harbor mutations of the perforin gene.
R. Clementi (2005)
10.3233/DMA-2010-0735
The Wiskott-Aldrich Syndrome: The Actin Cytoskeleton and Immune Cell Function
M. Blundell (2010)
10.1136/gut.2004.049460
Increased risk of lymphoma among inflammatory bowel disease patients treated with azathioprine and 6-mercaptopurine
A. Kandiel (2005)
10.1002/pbc.25989
Metachronous T-Lymphoblastic Lymphoma and Burkitt Lymphoma in a Child With Constitutional Mismatch Repair Deficiency Syndrome.
T. B. Alexander (2016)
10.1007/s00431-015-2565-x
Cancer susceptibility syndromes in children in the area of broad clinical use of massive parallel sequencing
M. Kuhlen (2015)
10.1038/bjc.1992.208
Ataxia telangiectasia genes and predisposition to leukaemia, lymphoma and breast cancer.
A. Taylor (1992)
10.1016/j.ejmg.2016.01.008
Recognition of genetic predisposition in pediatric cancer patients: An easy-to-use selection tool.
M. Jongmans (2016)
10.1016/j.ejca.2013.12.005
Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.
D. Bakry (2014)
10.1007/s10875-017-0453-z
Clinical Manifestations and Pathophysiological Mechanisms of the Wiskott-Aldrich Syndrome
F. Candotti (2017)
10.3324/HAEMATOL.11011
Genetic susceptibility to lymphoma.
C. Skibola (2007)
10.1016/j.jaci.2013.01.042
Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation.
D. Moshous (2013)
10.1002/pbc.25565
Non-Hodgkin lymphoma in children with an associated inherited condition: A retrospective analysis of the Associazione Italiana Ematologia Oncologia Pediatrica (AIEOP).
M. Aricò (2015)
10.3389/fimmu.2014.00531
Targeted NGS: A Cost-Effective Approach to Molecular Diagnosis of PIDs
J. Stoddard (2014)
10.1002/(SICI)1096-911X(199812)31:6<491::AID-MPO5>3.0.CO;2-B
Treatment of lymphoid malignancies in patients with ataxia-telangiectasia.
C. Sandoval (1998)
10.1111/cge.12710
Health risks for ataxia‐telangiectasia mutated heterozygotes: a systematic review, meta‐analysis and evidence‐based guideline
N. J. H. van Os (2016)
10.1097/MPH.0000000000000073
Monoallelic Mutations of the Perforin Gene may Represent a Predisposing Factor to Childhood Anaplastic Large Cell Lymphoma
Benedetta Ciambotti (2014)
10.1586/14737140.2015.1023712
New insights into the epidemiology of non-Hodgkin lymphoma and implications for therapy
D. Chihara (2015)
10.1002/(SICI)1096-911X(199912)33:6<536::AID-MPO3>3.0.CO;2-Z
Therapy for non-Hodgkin lymphoma in children with primary immunodeficiency: analysis of 19 patients from the BFM trials.
K. Seidemann (1999)
10.1186/s13023-016-0543-7
Ataxia telangiectasia: a review
Cynthia Rothblum-Oviatt (2016)
10.1186/gb-2012-13-1-237
What is complex about complex disorders?
K. Mitchell (2011)
10.1111/bjh.12422
Primary immunodeficiencies predisposed to Epstein‐Barr virus‐driven haematological diseases
N. Parvaneh (2013)
10.1093/aje/kwp383
Tumor necrosis factor (TNF) and lymphotoxin-alpha (LTA) polymorphisms and risk of non-Hodgkin lymphoma in the InterLymph Consortium.
C. Skibola (2010)
10.1097/MPH.0000000000000815
Novel Mutations in SH2D1A Gene in X-linked Lymphoproliferative Syndrome, Diagnosed After B-Cell Non-Hodgkin Lymphoma
Svetlana O Sharapova (2017)
10.1016/j.clim.2018.02.007
Increased risk of hematologic malignancies in primary immunodeficiency disorders: opportunities for immunotherapy.
Dorit Verhoeven (2018)
10.1002/cncr.22718
Germline mutations of the perforin gene are a frequent occurrence in childhood anaplastic large cell lymphoma
S. Cannella (2007)
10.1016/j.jaci.2017.05.024
Cancer in primary immunodeficiency diseases: Cancer incidence in the United States Immune Deficiency Network Registry
Paul C. Mayor (2018)
10.1038/sj.leu.2404299
Perforin polymorphism A91V and susceptibility to B-precursor childhood acute lymphoblastic leukemia: a report from the Children's Oncology Group
P. Mehta (2006)
10.1172/JCI62949
Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections.
Amandine Créquer (2012)
10.15252/emmm.201708292
Loss of RASGRP1 in humans impairs T‐cell expansion leading to Epstein‐Barr virus susceptibility
S. Winter (2018)
10.1038/leu.2011.371
Loss-of-function mutations within the IL-2 inducible kinase ITK in patients with EBV-associated lymphoproliferative diseases
R. Linka (2012)
10.1007/s10875-017-0465-8
The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies
Aziz Bousfiha (2017)
10.1371/journal.pgen.1001378
GWAS of Follicular Lymphoma Reveals Allelic Heterogeneity at 6p21.32 and Suggests Shared Genetic Susceptibility with Diffuse Large B-cell Lymphoma
K. Smedby (2011)
10.1016/j.ejmg.2015.12.014
Acute lymphoblastic leukemia and lymphoma in the context of constitutional mismatch repair deficiency syndrome.
T. Ripperger (2016)
10.1136/jmedgenet-2015-103299
Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort
N. Lavoine (2015)
10.14712/18059694.2016.57
Ataxia-telangiectasia mutated kinase (ATM) as a central regulator of radiation-induced DNA damage response.
Aleš Tichý (2010)
10.1182/blood-2013-11-538686
XMEN disease: a new primary immunodeficiency affecting Mg2+ regulation of immunity against Epstein-Barr virus.
Feng-Yen Li (2014)
10.1056/NEJM199502163320701
Concordance for Hodgkin's disease in identical twins suggesting genetic susceptibility to the young-adult form of the disease.
T. Mack (1995)
10.1111/dmcn.13424
Ataxia‐telangiectasia: recommendations for multidisciplinary treatment
Nienke J H Os (2017)
10.1038/nature13386
CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation
E. Martin (2014)
10.1084/jem.20160849
Combined immunodeficiency and Epstein-Barr virus–induced B cell malignancy in humans with inherited CD70 deficiency
H. Abolhassani (2017)
10.1182/blood-2016-01-643569
The 2016 revision of the World Health Organization classification of lymphoid neoplasms.
S. Swerdlow (2016)
10.1182/blood.V87.2.423.bloodjournal872423
Leukemia and lymphoma in ataxia telangiectasia.
A. Taylor (1996)
10.1007/s10897-016-9979-0
Predispositions to Lymphoma: A Practical Review for Genetic Counselors
Morgan N Similuk (2016)
10.1038/gim.2014.147
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment
H. Hampel (2015)
10.1093/jnci/86.21.1600
Systematic population-based assessment of cancer risk in first-degree relatives of cancer probands.
D. Goldgar (1994)
10.5114/ceji.2014.42135
Perforin: an important player in immune response
I. Osińska (2014)
10.1158/1078-0432.CCR-17-0574
Clinical Management and Tumor Surveillance Recommendations of Inherited Mismatch Repair Deficiency in Childhood
U. Tabori (2017)
10.1093/ANNONC/11.SUPPL_1.S141
Non-Hodgkin's lymphoma in pediatric patients with chromosomal breakage syndromes (AT and NBS): experience from the BFM trials.
K. Seidemann (2000)
10.3324/haematol.2016.147116
Non-Hodgkin lymphoma and pre-existing conditions: spectrum, clinical characteristics and outcome in 213 children and adolescents
A. Attarbaschi (2016)
10.1136/jmedgenet-2013-102238
Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium “Care for CMMR-D” (C4CMMR-D)
H. Vasen (2014)
10.1007/s10875-014-0083-7
XLP: Clinical Features and Molecular Etiology due to Mutations in SH2D1A Encoding SAP
S. Tangye (2014)
10.1097/MPH.0000000000001004
The Challenge of Next Generation Sequencing in a Boy With Severe Mononucleosis and EBV-related Lymphoma.
F. Verzegnassi (2018)
10.1111/j.1365-2141.2011.08863.x
Promising therapy results for lymphoid malignancies in children with chromosomal breakage syndromes (Ataxia teleangiectasia or Nijmegen‐breakage syndrome): a retrospective survey
Klaus Bienemann (2011)
10.1002/ajh.21903
Malignancies in the setting of primary immunodeficiency: Implications for hematologists/oncologists
R. Shapiro (2011)
10.1053/j.gastro.2012.04.045
Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy.
Daniel Kotlarz (2012)
10.1080/2162402X.2016.1179415
Missense mutations in the perforin (PRF1) gene as a cause of hereditary cancer predisposition
Mohammed S. Chaudhry (2016)
10.15252/emmm.201708641
Trio sequencing in pediatric cancer and clinical implications
M. Kuhlen (2018)
10.1136/jmg.2004.027433
A genome screen of families at high risk for Hodgkin lymphoma: evidence for a susceptibility gene on chromosome 4
L. Goldin (2005)
10.1084/jem.20160784
Inherited CD70 deficiency in humans reveals a critical role for the CD70–CD27 pathway in immunity to Epstein-Barr virus infection
Kazushi Izawa (2017)
10.1007/s40142-015-0064-z
Unique Genetic Counseling Considerations in the Pediatric Oncology Setting
K. Wolfe Schneider (2015)
10.1186/1471-2350-10-117
Genetic variation in the NBS1, MRE11, RAD50 and BLM genes and susceptibility to non-Hodgkin lymphoma
Johanna M. Schuetz (2009)
10.3324/haematol.2009.015503
Constitutional mismatch repair deficiency and childhood leukemia/lymphoma – report on a novel biallelic MSH6 mutation
T. Ripperger (2010)
10.1186/1750-1172-7-13
Nijmegen breakage syndrome (NBS)
K. Chrzanowska (2012)
10.1097/MD.0000000000008852
EBV lymphoproliferative-associated disease and primary cardiac T-cell lymphoma in a STK4 deficient patient
Roya Sherkat (2017)
10.1016/j.jaci.2013.08.032
Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies.
I. Nijman (2014)
10.1182/asheducation-2012.1.301
The many faces of common variable immunodeficiency.
C. Cunningham-Rundles (2012)
10.1056/NEJMoa1508054
Germline Mutations in Predisposition Genes in Pediatric Cancer.
J. Zhang (2015)
10.1186/s13023-016-0520-1
DNA ligase IV syndrome; a review
Thomas Altmann (2016)
10.1093/jncimonographs/lgu013
Etiologic heterogeneity among non-Hodgkin lymphoma subtypes: the InterLymph Non-Hodgkin Lymphoma Subtypes Project.
L. Morton (2014)
10.1093/aje/kws212
Perinatal and family risk factors for Hodgkin lymphoma in childhood through young adulthood.
C. Crump (2012)
10.1002/pbc.23283
Hereditary cancer risk assessment in a pediatric oncology follow-up clinic.
Sara C. Knapke (2012)
10.1097/MPG.0000000000000532
Large B-Cell Lymphoma in an Adolescent Patient With Interleukin-10 Receptor Deficiency and History of Infantile Inflammatory Bowel Disease.
D. Shouval (2016)
10.1371/journal.pone.0091521
An A91V SNP in the Perforin Gene Is Frequently Found in NK/T-Cell Lymphomas
R. Manso (2014)
10.1002/ijc.22719
The non‐Hodgkin lymphomas: A review of the epidemiologic literature
D. Alexander (2007)
10.1002/path.2418
Unique morphological spectrum of lymphomas in Nijmegen breakage syndrome (NBS) patients with high frequency of consecutive lymphoma formation.
M. Gładkowska-Dura (2008)
10.1038/ncomms6751
A genome-wide association study of marginal zone lymphoma shows association to the HLA region
J. Vijai (2015)
10.1016/j.blre.2008.03.009
Immunodeficiency-associated lymphomas.
H. Tran (2008)
10.1056/NEJMOA041432
Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma.
R. Clementi (2004)
10.1016/j.beha.2011.02.004
Host genetics in follicular lymphoma.
J. Cerhan (2011)
10.1038/ng.2666
Genome-wide association study of B cell non-Hodgkin lymphoma identifies 3q27 as a susceptibility locus in the Chinese population
Dennis E. K. Tan (2013)
10.1016/j.jaci.2015.12.1310
Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases.
H. Al-Mousa (2016)
10.3389/fimmu.2013.00441
Perforinopathy: A Spectrum of Human Immune Disease Caused by Defective Perforin Delivery or Function
I. Voskoboinik (2013)
10.1038/ng.3105
Genome-wide association study identifies multiple susceptibility loci for diffuse large B-cell lymphoma
J. Cerhan (2014)
10.1016/j.ejca.2015.02.008
Phenotypic and genotypic characterisation of biallelic mismatch repair deficiency (BMMR-D) syndrome.
C. Durno (2015)
10.2147/TACG.S58444
Wiskott–Aldrich syndrome: diagnosis, current management, and emerging treatments
D. Buchbinder (2014)
10.3324/haematol.2012.068791
Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27
E. Salzer (2013)
10.3389/fimmu.2018.00666
X-Linked Lymphoproliferative Disease Type 1: A Clinical and Molecular Perspective
N. Panchal (2018)
10.1182/blood-2010-06-284935
X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease.
C. Booth (2011)
10.1002/ajmg.a.32478
Extended follow‐up of the Finnish cartilage‐hair hypoplasia cohort confirms high incidence of non‐Hodgkin lymphoma and basal cell carcinoma
M. Taskinen (2008)
10.1016/j.jaci.2015.06.048
Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry
V. Cetica (2016)
10.1038/sj.bjc.6604881
Family history of haematopoietic malignancies and non-Hodgkin's lymphoma risk in the California Teachers Study
You Lu (2009)
10.1016/j.jaci.2017.02.016
Analysis of clinical and immunologic phenotype in a large cohort of children and adults with cartilage-hair hypoplasia.
S. Kostjukovits (2017)
10.1172/JCI61014
Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency.
Laure Gineau (2012)
10.1056/NEJMoa0907206
Inflammatory bowel disease and mutations affecting the interleukin-10 receptor.
E. Glocker (2009)
10.1158/1055-9965.EPI-05-0066
Increased Risk of Cancer among Siblings of Long-term Childhood Cancer Survivors: A Report from the Childhood Cancer Survivor Study
D. Friedman (2005)
10.1182/blood-2015-04-537498
Familial predisposition and genetic risk factors for lymphoma.
J. Cerhan (2015)
10.1159/000452082
Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition
C. Cunniff (2016)
10.1007/s10875-017-0464-9
International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity
C. Picard (2017)
10.1016/j.clim.2016.01.002
Next generation sequencing revealed DNA ligase IV deficiency in a "developmentally normal" patient with massive brain Epstein-Barr virus-positive diffuse large B-cell lymphoma.
Svetlana O. Sharapova (2016)
10.3389/fped.2017.00252
Clinical Assessment and Diagnosis of Germline Predisposition to Hematopoietic Malignancies: The University of Chicago Experience
Ami V Desai (2017)
10.1016/j.aller.2015.01.007
Study of SH2D1A gene mutation in paediatric patients with B-cell lymphoma.
Leili Koochakzadeh (2015)
10.1182/blood-2012-05-427989
PRRC2A and BCL2L11 gene variants influence risk of non-Hodgkin lymphoma: results from the InterLymph consortium.
A. Nieters (2012)
10.1182/blood-2013-06-508267
A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency.
B. Neven (2013)
10.1007/s10875-014-0074-8
Compound Heterozygous CORO1A Mutations in Siblings with a Mucocutaneous-Immunodeficiency Syndrome of Epidermodysplasia Verruciformis-HPV, Molluscum Contagiosum and Granulomatous Tuberculoid Leprosy
A. Stray-Pedersen (2014)
10.1002/ajmg.a.38142
Childhood cancer predisposition syndromes—A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology
T. Ripperger (2017)
10.3324/haematol.2009.021626
Constitutional mismatch repair-deficiency syndrome
K. Wimmer (2010)
10.1182/BLOOD.V98.1.194
The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis.
S. Straus (2001)
10.1002/ajmg.a.30869
A patient with mutations in DNA Ligase IV: Clinical features and overlap with Nijmegen breakage syndrome
T. Ben-Omran (2005)
10.1016/j.ajhg.2014.09.004
Genome-wide association study identifies five susceptibility loci for follicular lymphoma outside the HLA region.
C. Skibola (2014)
10.1111/bjh.14339
Severe Epstein–Barr virus infection in primary immunodeficiency and the normal host
A. Worth (2016)
10.1182/BLOOD.V97.4.1131
Hemophagocytic lymphohistiocytosis due to germline mutations in SH2D1A, the X-linked lymphoproliferative disease gene.
M. Aricò (2001)
10.1136/jmedgenet-2014-102284
Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘Care for CMMRD’ (C4CMMRD)
K. Wimmer (2014)
10.4161/onci.24185
Human perforin mutations and susceptibility to multiple primary cancers
J. Trapani (2013)
10.1158/1078-0432.CCR-17-0465
Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders
M. Walsh (2017)
10.1002/pbc.21789
Non-Hodgkin lymphoma (NHL) in children with Nijmegen Breakage syndrome (NBS).
B. Dembowska-Bagińska (2009)
10.1093/ajcp/aqw216
B-Cell and Classical Hodgkin Lymphomas Associated With Immunodeficiency: 2015 SH/EAHP Workshop Report—Part 2
D. de Jong (2017)
10.1016/j.bbmt.2008.10.007
Wiskott-Aldrich syndrome: diagnosis, clinical and laboratory manifestations, and treatment.
H. Ochs (2009)
10.1200/JCO.2014.56.5101
Incidence, presentation, and prognosis of malignancies in ataxia-telangiectasia: a report from the French national registry of primary immune deficiencies.
F. Suarez (2015)



Semantic Scholar Logo Some data provided by SemanticScholar