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Abstract
Malignant tumors are often found in patients with hereditary defects of immunity and are one of the main causes of death of such patients. The increased risk of developing tumors appears to be due to the weakening of antitumor surveillance and vulnerability to oncogenic viruses. The presence of primary immunodeficiency in a patient with an oncological disease can affect the tactics of treatment. Expanding the possibilities of primary immunodeficiency therapy dictates the need for timely differential diagnosis of hereditary immunodeficiencies.
References
Auerbach A.D. Fanconi anemia and its diagnosis // Mutat Res. - 2009. - Vol. 668(1-2). - P 4-10.
Bernstein J.L., Teraoka S., Southey M.C. et al. Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T>G and c.1066-6T>G (IVS10-6T>G) from the Breast Cancer Family Registry // Hum Mutat. - 2006. - Vol. 27(11). - P. 1122-1128.
Bogdanova N., Feshchenko S., Schrmann P. et al. Nijmegen Breakage Syndrome mutations and risk of breast cancer // Int. J. Cancer. - 2008. - Vol. 122 (4). - P. 802-806.
Bretsky P., Haiman C.A., Gilad S. et al. The relationship between twenty missense ATM variants and breast cancer risk: the Multiethnic Cohort // Cancer Epidemiol Biomarkers Prev. - 2003. - Vol. 12(8). - P. 733-738.
Buslov K.G., lyevleva A.G., Chekmariova E.V. et al. NBS1 657del5 mutation may contribute only to a limited fraction of breast cancer cases in Russia // Int. J. Cancer. - 2005. - Vol. 114 (4). - P. 585-589.
Boyle J.M., Buckley R.H. Population prevalence of diag nosed primary immunodeficiency diseases in the United States // J. Clin. Immunol. - 2007. - Vol. 27(5). - P. 497502.
Ciara E., Piekutowska-Abramczuk D., Popowska E. et al. Heterozygous germ-line mutations in the NBN gene predispose to medulloblastoma in pediatric patients // Acta Neuropathol. - 2010. - Vol. 119 (3). - P. 325-334.
Cohen J.M., Sebire N.J., Harvey J. et al. Successful treatment of lymphoproliferative disease complicating primary immunodeficiency/immunodysregulatory disorders with reduced-intensity allogeneic stem-cell transplantation // Blood. - 2007. - Vol. 110 (6). - P. 2209-2214.
Concannon P., Haile R.W., Brresen-Dale A.L. et al. Variants in the ATM gene associated with a reduced risk of contralateral breast cancer // Cancer Res. - 2008. -Vol. 68 (16). - P. 6486-6491.
Corthay A. Does the immune system naturally protect against cancer? // Front. Immunol. - 2014. - Vol. 5. - P. 197.
Costa-Carvalho B.T, Grumach A.S., Franco J.L. et al. Attending to warning signs of primary immunodeficiency diseases across the range of clinical practice // J. Clin. Immunol. - 2014. - Vol. 34(1). - P. 10-22. - 10.1007/ s10875-013-9954-6. DOI: 10.1007/s10875-013-9954-6
Cybulski C., G rski B., Debniak T. et al. NBS1 is a prostate cancer susceptibility gene // Cancer Res. - 2004. - Vol. 64 (4). - P. 1215-1219.
de Miranda N.F., Bjrkman A., Pan-Hammarstr m Q. DNA repair: the link between primary immunodeficiency and cancer // Ann N Y Acad. Sci. - 2011. - Vol. 1246. - P. 50-63.
Dunn G.P., Koebel C.M., Schreiber R.D. Interferons, immunity and cancer immunoediting // Nat. Rev. Immunol. - 2006. - Vol. 6 (11). - P. 836-848.
DuPage M., Mazumdar C., Schmidt L.M., Cheung A.F., Jacks T. Expression of tumour-specific antigens underlies cancer immunoediting // Nature. - 2012. - Vol. 482 (7385). - P. 405-409.
Emens L.A., Ascierto P.A., Darcy P.K. et al. Cancer immunotherapy: Opportunities and challenges in the rapidly evolving clinical landscape // Eur. J. Cancer. -2017. - Vol. 81. - P. 116-129.
Garraway L.A., Lander E.S. Lessons from the cancer genome // Cell. - 2013. - Vol. 153(1). - P. 17-37.
Garg A.D., Agostinis P. Cell death and immunity in cancer: From danger signals to mimicry of pathogen defense responses // Immunol Rev. - 2017. - Vol. 280 (1). - P. 126-148.
Gorski B., Debniak T., Masojc B. et al. Germline 657del5 mutation in the NBS1 gene in breast cancer patients // Int. J. Cancer. - 2003. - Vol. 106 (3). - P. 379-381.
Guerra N., Tan YЮX., Joncker N.T. et al. NKG2D-deficient mice are defective in tumor surveillance in models of spontaneous malignancy // Immunity. - 2008. - Vol. 28 (4). - P. 571-580.
Hanahan D., Weinberg R.A. Hallmarks of cancer: the next generation // Cell. - 2011. - Vol. 144 (5). - P. 646-674.
Hauck F., Voss R., Urban C., Seidel M.G. Intrinsic and extrinsic causes of malignancies in patients with primary immunodeficiency disorders // J. Allergy Clin. Immunol. - 2017. - pii: S0091-6749(17)31027-8.
Heintz N. Ataxia telangiectasia: cell signaling, cell death and the cell cycle // Curr. Opin. Neurol. -1996. - Vol. 9 (2). - P. 137-140.
Jacobs J.F., Nierkens S., Figdor C.G., de Vries I.J., Adema G.J. Regulatory T cells in melanoma: the final hurdle towards effective immunotherapy? // Lancet Oncol. - 2012. - Vol. 13 (1). - P. e32-42.
Jonkman-Berk B.M., van den Berg J.M., Ten Berge I.J. et al. Primary immunodeficiencies in the Netherlands: national patient data demonstrate the increased risk of malignancy // Clin. Immunol. - 2015. - Vol. 156 (2). - P. 154-162.
Kroft S.H., Finn W.G., Singleton T.P. et al. Follicular large cell lymphoma with immunoblastic features in a child with Wiskott-Aldrich syndrome: an unusual immunodeficiency-related neoplasm not associated with Epstein-Barr virus // Am. J. Clin. Pathol. - 1998. - Vol. 110 (1). - P. 95-99.
Lakin N.D., Weber P., Stankovic T. et al. Analysis of the ATM protein in wild-type and ataxia telangiectasia cells // Oncogene. - 1996. - Vol.13 (12). - P. 2707-2716.
Martin D., Gutkind J.S. Human tumor-associated viruses and new insights into the molecular mechanisms of cancer // Oncogene. - 2008. - Vol. 27 (Suppl 2). - P. S31-42. - DOI: 10.1038/onc.2009.351
Matsushita H., Vesely M.D., Koboldt D.C. et al. Cancer exome analysis reveals a T-cell-dependent mechanism of cancer immunoediting // Nature. - 2012. - Vol. 482 (7385). - P. 400-404. - DOI: 10.1038/nature10755
Mayor P.C., Eng K.H., Singel K.L. et al. Cancer in primary immunodeficiency diseases: Cancer incidence in the United States Immune Deficiency Network Registry // J. Allergy Clin. Immunol. - 2017. - pii: S0091-6749(17)30925-9.
Meister M.T, Voss S., Schwabe D. Treatment of EBV-associated nodular sclerosing Hodgkin lymphoma in a patient with ataxia telangiectasia with brentuximab vedotinand reduced COPP plus rituximab // Pediatr. Blood Cancer. - 2015. - Vol. 62 (11). - P. 2018-2020.
Mittal D., Gubin M.M., Schreiber R.D., Smyth M.J. New insights into cancer immunoediting and its three component phases-elimination, equilibrium and escape // Curr. Opin. Immunol. - 2014. - Vol. 27. - P. 16-25.
Mortaz E., Tabarsi P., Mansouri D. et al. Cancers Related to Immunodeficiencies: Update and Perspectives // Front Immunol. - 2016. - Vol. 7. - P. 365.
Mueller B.U., Pizzo P.A. Malignancies in pediatric AIDS // Curr. Opin. Pediatr. - 1996. - Vol. 8 (1). - P. 45-49.
Nicholaou T., Chen W., Davis I.D. et al. Immunoediting and persistence of antigen-specific immunity in patients who have previously been vaccinated with NY-ESO-1 protein formulated in ISCOMATRIX™ // Cancer Immunol. Immunother. - 2011. - Vol. 60 (11). - P. 1625-1637.
Notarangelo L.D. PIDs and cancer: an evolving story // Blood. - 2010. - Vol. 116 (8). - P. 1189-1190.
Palendira U., Rickinson A.B. Primary immunodeficiencies and the control of Epstein-Barr virus infection // Ann N Y Acad. Sci. - 2015. - Vol. 1356. - P 22-44.
Pastorczak A., Szczepanski T., Mlynarski W. International Berlin-Frankfurt-Munster (I-BFM) ALL host genetic variation working group. Clinical course and therapeutic implications for lymphoid malignancies in Nijmegen breakage syndrome // Eur. J. Med. Genet. - 2016. - Vol. 59 (3). - P 126-132.
Prokofyeva D., Bogdanova N., Dubrowinskaja N. et al. Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations // Breast Cancer Res Treat. - 2013. -Vol. 137 (2). - P 533-539.
Rahman N., Scott R.H. Cancer genes associated with phenotypes in monoallelic and biallelic mutation carriers: new lessons from old players// Hum Mol. Genet. - 2007. - Vol. 16. - R60-66.
Renwick A., Thompson D., Seal S. et al. ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles // Nat. Genet. - 2006. - Vol. 38(8). - P. 873-875.
Resnick I.B., Kondratenko I., Togoev O. et al. Nijmegen breakage syndrome: clinical characteristics and mutation analysis in eight unrelated Russian families // J. Pediatr. - 2002. - Vol. 140 (3). - P 355-361.
Rezaei N., Hedayat M., Aghamohammadi A., Nichols K.E. Primary immunodeficiency diseases associated with increased susceptibility to viral infections and malignancies // J. Allergy Clin. Immunol. - 2011. - Vol. 127 (6). - P. 1329-1341.
Salavoura K., Kolialexi A., Tsangaris G., Mavrou A. Development of cancer in patients with primary immunodeficiencies // Anticancer Res. - 2008. - Vol. 28(2B). - P. 1263-1269.
Sandoval C., Swift M. Hodgkin disease in ataxia-telangiectasia patients with poor outcomes // Med. Pediatr. Oncol - 2003. - Vol. 40. - P. 162-166.
Schreiber R.D., Old L.J., Smyth M.J. Cancer immunoediting: integrating immunity's roles in cancer suppression and promotion // Science. - 2011. - Vol. 331 (6024). - P. 1565-1570.
Seemanova E., Varon R., Vejvalka J. et al. The Slavic NBN Founder Mutation: A Role for Reproductive Fitness? // PLoS One. - 2016. - Vol. 11 (12). - e0167984.
Shapiro R.S. Malignancies in the setting of primary immunodeficiency: Implications for hematologists/ oncologists // Am J. Hematol. - 2011. - Vol. 86 (1). - P 48-55.
Slack J., Albert M.H., Balashov D. et al. Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders // J. Allergy Clin. Immunol. - 2017. - pii: S0091-6749(17)30567-5.
Sokolenko A.P, Iyevleva A.G., Preobrazhenskaya E.V. et al. High prevalence and breast cancer predisposing role of the BLM c.1642 C>T (Q548X) mutation in Russia // Int. J. Cancer. - 2012. - Vol. 130 (12). - P 2867-2873.
Steffen J., Varon R., Mosor M. et al. Increased cancer risk of heterozygotes with NBS1 germline mutations in Poland // Int. J. Cancer. - 2004. - Vol. 111 (1). - P 67-71.
Suarez F., Mahlaoui N., Canioni D. et al. Incidence, presentation, and prognosis of malignancies in ataxia-telangiectasia: A report from the French national registry of primary immune deficiencies // J. Clin. Oncol - 2015. - Vol. 33. - P. 202-208.
Suspitsin E.N., Sibgatullina F.I., Lyazina L.V., Imyanitov E.N. First Two Cases of Bloom Syndrome in Russia: Lack of Skin Manifestations in a BLM c.1642C>T (p.Q548X) Homozygote as a Likely Cause of Underdiagnosis // Mol. Syndromol. - 2017. - Vol. 8 (2). - P. 103-106.
Tavtigian S.V., Oefner P.J., Babikyan D. et al. Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer // Am J. Hum. Genet. - 2009. - Vol. 85 (4). - P. 427-446.
Taylor A.M., Metcalfe J.A., Thick J., Mak YF. Leukemia and lymphoma in ataxia telangiectasia // Blood. - 1996. - Vol. 87 (2). - P. 423-438.
Thrasher A.J., Williams D.A. Evolving Gene Therapy in Primary Immunodeficiency // Mol. Ther. - 2017. - Vol. 25 (5). - P. 1132-1141.
Tran H., Nourse J., Hall S. et al. Immunodeficiency-associated lymphomas // Blood Rev. - 2008. - Vol. 22 (5). - P. 261-281.
Vajdic C.M., Mao L., van Leeuwen M.T. et al. Are antibody deficiency disorders associated with a narrower range of cancers than other forms of immunodeficiency? // Blood. - 2010. -Vol. 116 (8). - P. 1228-1234.
van der Werff Ten Bosch J., van den Akker M. Genetic predisposition and hematopoietic malignancies in children: Primary immunodeficiency // Eur. J. Med. Genet. - 2016. - Vol. 59 (12). - P. 647-653.
van Os N.J., Roeleveld N., Weemaes C.M. et al. Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline // Clin. Genet. - 2016. - Vol. 90 (2). - P. 105
Varon R., Seemanova E., Chrzanowska K. et al. Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations // Eur. J. Hum Genet. - 2000. - Vol. 8 (11). - P 900-902.
von Boehmer L., Mattle M., Bode P et al. NY-ESO-1-specific immunological pressure and escape in a patient with metastatic melanoma // Cancer Immun. - 2013. -Vol. 13. - P. 12.
Walsh M.F., Chang V.Y., Kohlmann W.K. et al. Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders // Clin. Cancer Res. - 2017. - Vol. 23 (11). - e23-e31.
Wolska-Kunierz B., Gregorek H., Chrzanowska K. et al. Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options - a Retrospective Analysis // J. Clin. Immunol. - 2015. -Vol. 35 (6). - P. 538-549.
Woodbine L., Gennery A.R., Jeggo P.A. The clinical impact of deficiency in DNA non-homologous end-joining // DNA Repair (Amst). - 2014. - Vol. 16. - P 84-96.
Wu L., Hickson I.D. The Bloom's syndrome helicase suppresses crossing over during homologous recombination // Nature. - 2003. - Vol. 426 (6968). - P. 870-874.
Wykes M.N., Lewin S.R. Immune checkpoint blockade in infectious diseases // Nat. Rev. Immunol. - 2017. - DOI: 10.1038/nri.2017.112
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