Hallmarks of Cancers: Primary Antibody Deficiency Versus Other Inborn Errors of Immunity

Abolhassani, Hassan; Wang, Yating; Hammarström, Lennart; Pan‐Hammarström, Qiang

doi:10.3389/fimmu.2021.720025

Cited by 22 publications

(15 citation statements)

References 122 publications

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“…Moreover, cases with syndromic CID due to DNA repair can increase genome instability and mutation and evade growth suppression. HIES is also prone to sustaining proliferative signaling [ 10 ].…”

Section: Discussionmentioning

confidence: 99%

“…Nonetheless, the lifetime risk of cancer developing in children with IEI has been estimated to range from 4 to 25% [ 8 , 9 ]. The most important reported mechanism of malignancy is compromised cell-mediated immunosurveillance and impaired immune function, which plays a significant role in protecting against tumors [ 10 ]. Other mechanisms are mostly associated with hematological malignancies including defects in DNA repair and impaired genetic stability, genetic predisposition, oncogenic viruses, persistent tissue inflammation and iatrogenic factors e.g., radiation [ 11 ].…”

Section: Introductionmentioning

confidence: 99%

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Diversity of malignancies in patients with different types of inborn errors of immunity

Tavakol

Delavari

Salami

et al. 2022

Allergy Asthma Clin Immunol

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Genetic defects in the development, maturation, and/or function of the immune cells can lead to Inborn errors of immunity (IEI) which may predispose patients to malignancies. The overall risk for cancer in children with IEI ranges from 4 to 25% and the type of malignancy is highly dependent on the specific mutant gene underlying IEI. We investigated 3056 IEI patients registered in the Iranian national registry between the years 1999 and 2020 in this retrospective cohort study. The frequency of malignancy and its association with the type of IEI in these patients were evaluated. A total of 82 IEI patients with malignancy were enrolled in this study. Among them, predominantly lymphoma was the most common type of malignancy (67.1%), followed by leukemia (11%), and cancers of the head and neck (7.3%). Among identified lymphoma cancers, non-Hodgkin’s lymphomas were the most frequent type (43.9%) followed by different subtypes of Hodgkin’s lymphoma (23.2%). Solid tumors (18.3%) appeared to be very heterogeneous by type and localization. The correlation between the type of malignancy and survival status and the association between the type of malignancy and IEI entities were unremarkable. The awareness of the association between the presence of IEI and cancer highlights the importance of a synergistic effort by oncologists and immunologists in the early diagnosis of malignancy and personalized therapeutic strategies in IEI patients.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Diversity of malignancies in patients with different types of inborn errors of immunity

Tavakol

Delavari

Salami

et al. 2022

Allergy Asthma Clin Immunol

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“…We reported that more than one-third of IEI monogenic defects have been linked with cancer hallmarks according to the IUIS classification of 2020 [3 ▪▪ ,86]. Among 55 novel IEI genes discovered during the last 2 years [4 ▪▪ ], although the number of patients is still very limited for each disease to guarantee the association or dissociation from malignancy, we have reported here 15 genes in which cancer is a component of the main clinical phenotype observed among these rare case reports and tried to classify them mechanistically based on the known cancer hallmarks (Table 1).…”

Section: Novel Inborn Errors Of Immunity Genes Associated With Hallma...mentioning

confidence: 99%

“…On the other hand, the predominant gene deletion associated with IEI in DiGeorge syndrome (22q11.2 microdeletion) is TBX1 (T-box 1), which is also a methyltransferase (on H3K4 position similar to KMT2D), and can lead to multiorgan defects and immunodeficiency mainly because of absence of thymus and thymic development of T cells [41]. Both patients with Kabuki syndrome and Digeorge syndrome were reported to suffer from malignancies mainly lymphoma [3 ▪▪ ].…”

Section: Nonmutational Epigenetic Reprogrammingmentioning

confidence: 99%

Updates of cancer hallmarks in patients with inborn errors of immunity

Wang

Abolhassani

2022

Current Opinion in Allergy &Amp; Clinical Immunology

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Purpose of reviewThe development of cancer in patients with genetically determined inborn errors of immunity (IEI) is much higher than in the general population. The hallmarks of cancer are a conceptualization tool that can refine the complexities of cancer development and pathophysiology. Each genetic defect may impose a different pathological tumor predisposition, which needs to be identified and linked with known hallmarks of cancer.Recent findingsFour new hallmarks of cancer have been suggested, recently, including unlocking phenotypic plasticity, senescent cells, nonmutational epigenetic reprogramming, and polymorphic microbiomes. Moreover, more than 50 new IEI genes have been discovered during the last 2 years from which 15 monogenic defects perturb tumor immune surveillance in patients.SummaryThis review provides a more comprehensive and updated overview of all 14 cancer hallmarks in IEI patients and covers aspects of cancer predisposition in novel genes in the ever-increasing field of IEI.

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“…Infection susceptibility may contribute to this increase. However, the mechanism of lymphomagenesis in IEI is more complex and may involve genome instability, mucosal defects permitting chronic antigen stimulation, dysregulated cellular functions, and defective tumor immunosurveillance [16][17][18][19][20] .…”

Section: Introductionmentioning

confidence: 99%

Genomic characterization of lymphomas in patients with inborn errors of immunity

Maglione

Wehr

et al. 2022

Blood Advances

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Patients with inborn errors of immunity (IEI) have a higher risk of developing cancer, especially lymphoma. However, the molecular basis for IEI-related lymphoma is complex and remains elusive. Here, we perform an in-depth analysis of lymphoma genomes derived from 23 IEI patients. We identified and validated disease-causing or associated germline mutations in 14 of 23 patients involving ATM, BACH2, BLM, CD70, G6PD, NBN, PIK3CD, PTEN, and TNFRSF13B. Furthermore, we profiled somatic mutations in the lymphoma genome and identified eight genes that were mutated at a significantly higher level in IEI-associated diffuse large B-cell lymphomas (DLBCLs) than in non-IEI DLBCLs, such as BRCA2, NCOR1, KLF2, FAS, CCND3, and BRWD3. The latter, BRWD3, is furthermore preferentially mutated in tumors of a subgroup of activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome patients. We also identified five genomic mutational signatures, including two DNA repair deficiency-related signatures, in IEI-associated lymphomas and a strikingly high number of inter- and intrachromosomal structural variants in the tumor genome of a Bloom syndrome patient. In summary, our comprehensive genomic characterization of lymphomas derived from patients with rare genetic disorders expands our understanding of lymphomagenesis and provides new insights for targeted therapy.

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Hallmarks of Cancers: Primary Antibody Deficiency Versus Other Inborn Errors of Immunity

Cited by 22 publications

References 122 publications

Diversity of malignancies in patients with different types of inborn errors of immunity

Diversity of malignancies in patients with different types of inborn errors of immunity

Updates of cancer hallmarks in patients with inborn errors of immunity

Genomic characterization of lymphomas in patients with inborn errors of immunity

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