Brief communicationMultiple Colorectal Neoplasms in X-Linked Agammaglobulinemia
Section snippets
Case 1
A 45-year-old man with XLA underwent colonoscopy for an assumed increased CRC risk associated with XLA. He was treated with intravenous immunoglobulins and had experienced recurrent lower respiratory tract infections. At 37 years of age he experienced persistent malabsorption and weight loss caused by villous atrophy of the small intestine, for which he received overnight tube feeding.
His family history revealed a brother dying at age 32 from urosepsis. His mother died at 60 years of age as a
Literature Review of Gastrointestinal Cancer in X-Linked Agammaglobulinemia
Literature reports suggest that XLA patients are at increased risk of gastrointestinal cancer. A review of literature revealed 8 colorectal carcinomas,5, 7, 8, 10, 14 four gastric cancers,7, 11, 12, 13 and 1 carcinoid tumor16 in XLA patients (Table 1). The reported age of cancer ranged between 10–36 years.
Two studies reported a high relative risk for gastrointestinal malignancies in XLA.7, 8 Van der Meer et al8 found 3 patients with CRC in a cohort of 52 individuals with XLA and estimated a
Discussion
An increased risk for colorectal,5, 7, 8 gastric,7, 11, 12, 13 and lymphoreticular cancer5 in XLA has been suggested. However, literature reports about cancer incidence in XLA are conflicting, raising uncertainty about the cancer risk and localization. For example, malignancies were not found in 2 XLA patient cohorts,6, 17 although in one study the mean age was 14 years.6 Importantly, BTK mutation analysis is the only definitive test to establish the diagnosis of XLA, and most reports of
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Progress in the development of small molecular inhibitors of the Bruton's tyrosine kinase (BTK) as a promising cancer therapy
2021, Bioorganic and Medicinal ChemistryCitation Excerpt :Inhibition of its activity could produce obvious anti-tumor effects. Targeted inhibition of BTK has achieved significant curative effects in the clinical application of B-cell tumors such as chronic lymphocytic leukemia (CLL), mantle cell lymphoma (MCL), and Fahrenheit's macroglobulinemia (WM)27-31. Given the crucial role of BTK in the development and function of B cells, BTK has become a promising drug target for the treatment of B cell malignant tumors.
Crohn's-like Enteritis in X-Linked Agammaglobulinemia: A Case Series and Systematic Review
2021, Journal of Allergy and Clinical Immunology: In PracticeCitation Excerpt :The most reported gastrointestinal (GI) manifestations of XLA include intermittent or chronic diarrhea, gastroenteritis, or malabsorption.3,7-9 Malignant change, predominantly found in the GI tract, has been described in several studies and is a potential complication.8,10,11 Whereas recurrent infections, including Giardia or Campylobacter species, may play a role in some of these GI symptoms, a subset of patients develop a chronic Crohn disease (CD)–like condition in the absence of acute infection.12-14
Effective, safe, and sustained correction of murine XLA using a UCOE-BTK promoter-based lentiviral vector
2021, Molecular Therapy Methods and Clinical DevelopmentConsensus of the Italian Primary Immunodeficiency Network on transition management from pediatric to adult care in patients affected with childhood-onset inborn errors of immunity
2020, Journal of Allergy and Clinical ImmunologyCitation Excerpt :Up to 20% of adult patients with CVID develop cancer,21,31-34 including malignancies of lymphatic tissue, such as non-Hodgkin lymphoma and gastrointestinal cancer, which is almost 50 times more frequent than in the healthy population.21,35-37 Gastrointestinal tract malignancies (eg, gastric adenocarcinoma, liver carcinoma, colon adenocarcinoma) have been reported in patients with XLA.11,38,39 As reported in Table IV, an agreement for 6 group-specific statements was reached and assumed as IPINet consensus.
Long-term follow-up of 168 patients with X-linked agammaglobulinemia reveals increased morbidity and mortality
2020, Journal of Allergy and Clinical ImmunologyCitation Excerpt :Gastrointestinal and skin infections were recorded in a significant number of patients, consistent with previous XLA case series.7,11-13 Previous studies have suggested that the gastrointestinal tract is frequently involved in tumor transformation in patients with XLA.24-38 In our cohort, 4 patients with XLA developed a tumor of the gastrointestinal tract during follow-up (1 gastric adenocarcinoma, 1 liver carcinoma, and 2 colon adenocarcinomas).
Ibrutinib and indolent B-cell lymphomas
2014, Clinical Lymphoma, Myeloma and LeukemiaCitation Excerpt :Oncogenic activation of BTK signaling represents an absolute prerequisite for CLL leukemogenesis and progression in IgH.ETmu CLL mouse models.43 There is also emerging evidence for a role of aberrant BTK signaling in solid tumor development.44 The pathway is also found to be abnormally activated in autoimmune disorders, including rheumatoid arthritis and systemic lupus erythematosus.45