Case Report: Spontaneous regression of diffuse large B-cell lymphoma in a patient with ataxia–telangiectasia


1 Acquired Immunodeficiency Research Center, Isfahan University of Medical Sciences

2 Department of Pathology, School of Medicine, Isfahan University of Medical Sciences

3 Department of Pediatric Hematology and Oncology, Faculty of Medicine, Child Growth and Development Research Center, Isfahan University of Medical Sciences

4 Isfahan Immunodeficiency Research Center, Seyed Al‑Shohada Hospital, Isfahan University of Medical Sciences

5 Department of Immunology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran


Ataxia–telangiectasia (AT) is a type of primary immunodeficiency characterized by an autosomal recessive mode of inheritance and usually presents with progressive cerebellar ataxia in early life. This complex disease is associated with humoral and cellular immune dysfunction and other features including characteristic oculocutaneous telangiectasia and increased predisposition to cancers, particularly lymphoma and leukemia. An 11-year-old Iranian girl presented with primary immunodeficiency and was diagnosed as having AT according to her clinical manifestations and molecular findings. She had a history of two types of non-Hodgkin's lymphoma and showed spontaneous regression of her diffuse large B-cell lymphoma without any specific treatment. Gene mutations and dysfunction in patients with AT result in different manifestations including abnormal development of the thymus, immunodeficiency, increased susceptibility to malignancies, and increased radiosensitivity. No standard treatment is available for these patients. The use of immunotherapeutic strategies in patients with primary immune deficiency disease-associated tumors is potentially important.


Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM. Ataxia telangiectasia: A review. Orphanet J Rare Dis 2016;11:159.  Back to cited text no. 1
Chun HH, Gatti RA. Ataxia-telangiectasia, an evolving phenotype. DNA Repair (Amst) 2004;3:1187-96.  Back to cited text no. 2
Yanofsky RA, Seshia SS, Dawson AJ, Stobart K, Greenberg CR, Booth FA, et al. Ataxia-telangiectasia: Atypical presentation and toxicity of cancer treatment. Can J Neurol Sci 2009;36:462-7.  Back to cited text no. 3
Staples ER, McDermott EM, Reiman A, Byrd PJ, Ritchie S, Taylor AM, et al. Immunodeficiency in ataxia telangiectasia is correlated strongly with the presence of two null mutations in the ataxia telangiectasia mutated gene. Clin Exp Immunol 2008;153:214-20.  Back to cited text no. 4
Haas OA. Primary immunodeficiency and cancer predisposition revisited: Embedding two closely related concepts into an integrative conceptual framework. Front Immunol 2018;9:3136.  Back to cited text no. 5
Thandra KC, Barsouk A, Saginala K, Padala SA, Barsouk A, Rawla P. Epidemiology of Non-Hodgkin's Lymphoma. Med Sci (Basel) 2021;9:5.  Back to cited text no. 6
Chao MP. Treatment challenges in the management of relapsed or refractory non-Hodgkin's lymphoma-novel and emerging therapies. Cancer Manag Res 2013;5:251-69.  Back to cited text no. 7
Kiykim A, Eker N, Surekli O, Nain E, Kasap N, Aktürk H, et al. Malignancy and lymphoid proliferation in primary immune deficiencies; hard to define, hard to treat. Pediatr Blood Cancer 2020;67:e28091.  Back to cited text no. 8
Snijder J, Mihyawi N, Frolov A, Ewton A, Rivero G. Spontaneous remission in diffuse large cell lymphoma: A case report. J Med Case Rep 2019;13:28.  Back to cited text no. 9
Moslemi M, Moradi Y, Dehghanbanadaki H, Afkhami H, Khaledi M, Sedighimehr N, et al. The association between ATM variants and risk of breast cancer: A systematic review and meta-analysis. BMC Cancer 2021;21:27.  Back to cited text no. 10
Tomioka H, Kaneoya A, Mochizuki Y, Harada H. Primary diffuse large B-cell lymphoma arising in the tongue accompanied by ataxia-telangiectasia: A case report. J Clin Diagn Res 2015;9:D25-7.  Back to cited text no. 11
Machida S, Tomizawa D, Tamaichi H, Okawa T, Endo A, Imai K, et al. Successful treatment of diffuse large B-cell lymphoma in a patient with ataxia telangiectasia using rituximab. J Pediatr Hematol Oncol 2013;35:482-5.  Back to cited text no. 12
Makkouk A, Joshi VB, Lemke CD, Wongrakpanich A, Olivier AK, Blackwell SE, et al. Three steps to breaking immune tolerance to lymphoma: A microparticle approach. Cancer Immunol Res 2015;3:389-98.  Back to cited text no. 13
Abe R, Ogawa K, Maruyama Y, Nakamura N, Abe M. Spontaneous regression of diffuse large B-cell lymphoma harbouring Epstein-Barr virus: A case report and review of the literature. J Clin Exp Hematop 2007;47:23-6.  Back to cited text no. 14
Garg AD, More S, Rufo N, Mece O, Sassano ML, Agostinis P, et al. Trial watch: Immunogenic cell death induction by anticancer chemotherapeutics. Oncoimmunology 2017;6:e1386829.  Back to cited text no. 15
Huang FY, Lei J, Sun Y, Yan F, Chen B, Zhang L, et al. Induction of enhanced immunogenic cell death through ultrasound-controlled release of doxorubicin by liposome- microbubble complexes. Oncoimmunology 2018;7:e1446720.  Back to cited text no. 16
Gebremeskel S, Johnston B. Concepts and mechanisms underlying chemotherapy induced immunogenic cell death: Impact on clinical studies and considerations for combined therapies. Oncotarget 2015;6:41600-19.