Pediatric Immunodeficiency-associated lymphoproliferative disorders
2023-06-25 Sheng Xiao, MD , Chunxiao Yang Affiliation1.Brigham and Women's Hospital, Harvard Medical School, Boston, MA (USA)
Classification
Definition
Pediatric immunodeficiency-associated lymphoproliferative disorders occur in patients with impaired immune systems, either from inherited or acquired immune deficiencies such as HIV infection or post-transplant immunosuppressants. The genomic profiles are similar to those of immunocompetent individuals with the corresponding lymphomas/leukemia.
| Immunodeficiency-associated lymphoproliferative disorders | Genetic marker(s) |
|---|---|
| Primary immunodeficiency-associated lymphoproliferative disorders | The germline mutations of ATM, NBN, BLM, RAG1, RAG2IL2RA, and a long list of other genes are associated with primary immune deficiency.1-3 These patients are susceptible to EBV infection and EBV-associated oncogenesis. |
| Posttransplant lymphoproliferative disorders | Mutations in JAK/STAT and NOTCH1 pathways are common in post-transplant lymphoproliferative disorders, include JAK3, BCL11B, PIK3CD, KMT2A, and NOTCH1.4 |
| HIV-associated lymphoproliferative disorders | HIV-associated lymphomas include Burkitt lymphoma, DLBCL, cHL, and MALT lymphoma. The genomic profiles of HIV-associated lymphomas are similar to their immunocompetent adult counterparts, with BCL2 rearrangement and double/triple-hit lymphoma less common in HIV-associated DLBCL.5 |
Article Bibliography
| Reference Number | Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|---|
| 1 | 30662441 | 2018 | Epstein-Barr Virus (EBV)-Related Lymphoproliferative Disorders in Ataxia Telangiectasia: Does ATM Regulate EBV Life Cycle? | Tatfi M et al |
| 2 | 30443258 | 2018 | Genes at the Crossroad of Primary Immunodeficiencies and Cancer. | Derpoorter C et al |
| 3 | 31313695 | 2020 | Primary Cutaneous Clonal CD8+ T-Cell Lymphoproliferative Disorder Associated With Immunodeficiency due to RAG1 Mutation. | Avitan-Hersh E et al |
| 4 | 35111674 | 2021 | Mutations in JAK/STAT and NOTCH1 Genes Are Enriched in Post-Transplant Lymphoproliferative Disorders. | Butzmann A et al |
| 5 | 30671210 | 2019 | Hiv and Lymphoma: from Epidemiology to Clinical Management. | Re A et al |
Citation
Sheng Xiao, MD ; Chunxiao Yang
Pediatric Immunodeficiency-associated lymphoproliferative disorders
Atlas Genet Cytogenet Oncol Haematol. 2023-06-25
Online version: http://atlasgeneticsoncology.org/solid-tumor/209185/pediatric-immunodeficiency-associated-lymphoproliferative-disorders
