Risk of malignancy in 22q11.2 deletion syndrome

Stevens, Toer; Bosch, Jutte van der Werff ten; Rademaeker, Marjan De; Bogaert, Ann Van Den; Akker, Machiel van den

doi:10.1002/ccr3.880

Cited by 24 publications

(30 citation statements)

References 30 publications

(17 reference statements)

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“…This includes encouraging active preventive measures such as the HPV vaccine, routine cancer screening including Pap smears, and counseling on smoking cessation for individuals with 22q11.2DS. 36 This is similar to preventive care recommendations for individuals from disadvantaged populations for whom access to health care may be a barrier. 14,15,29 Similarly, the high risk (about 1 in 4) of psychotic illness in 22q11.2DS necessitates vigilance to ensure prompt diagnosis and effective treatment, 4,38 with active monitoring for suicidality and metabolic parameters that may increase mortality risk.…”

Section: Discussionsupporting

confidence: 64%

“…35 These results are consistent with previous reports of possible predisposition for malignancy in children with 22q11.2DS. 1,36,37 Larger samples will be needed to determine whether there is an increased vulnerability and whether this may relate to T-cell deficits, and/or aberrant immune surveillance, that could predispose to carcinogenic viruses such as Epstein–Barr virus or human papillomavirus (HPV). 35,36 Nonetheless, the findings collectively signify the need for vigilance.…”

Section: Discussionmentioning

confidence: 99%

“…1,36,37 Larger samples will be needed to determine whether there is an increased vulnerability and whether this may relate to T-cell deficits, and/or aberrant immune surveillance, that could predispose to carcinogenic viruses such as Epstein–Barr virus or human papillomavirus (HPV). 35,36 Nonetheless, the findings collectively signify the need for vigilance. This includes encouraging active preventive measures such as the HPV vaccine, routine cancer screening including Pap smears, and counseling on smoking cessation for individuals with 22q11.2DS.…”

Section: Discussionmentioning

confidence: 99%

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All-cause mortality and survival in adults with 22q11.2 deletion syndrome

Van

Heung

Graffi

et al. 2019

Genetics in Medicine

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PurposeGiven limited data available on long-term outcomes in 22q11.2 deletion syndrome (22q11.2DS), we investigated mortality risk in adults with this microdeletion syndrome.MethodsWe studied 309 well-characterized adults (age ≥17 years) with 22q11.2DS and their 1014 unaffected parents and siblings, using a prospective case–control design. We used Cox proportional hazards regression modeling and Kaplan–Meier curves to investigate effects of the 22q11.2 deletion and its associated features on all-cause mortality and survival.ResultsThe 22q11.2 deletion (hazard ratio [HR] 8.86, 95% CI 2.87–27.37) and major congenital heart disease (CHD; HR 5.03, 95% CI 2.27–11.17), but not intellectual disability or psychotic illness, were significant independent predictors of mortality for adults with 22q11.2DS compared with their siblings. Amongst those with 22q11.2DS, there were 31 deaths that occurred at a median age of 46.4 (range 18.1–68.6) years; a substantial minority had outlived both parents. Probability of survival to age 45 years was approximately 72% for those with major CHD, and 95% for those with no major CHD (p < 0.0001).ConclusionFor adults with 22q11.2DS, the 22q11.2 deletion and more severe forms of CHD both contribute to a lower life expectancy than family-based expectations. The results have implications for genetic counseling and anticipatory care.

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Section: Discussionsupporting

confidence: 64%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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All-cause mortality and survival in adults with 22q11.2 deletion syndrome

Van

Heung

Graffi

et al. 2019

Genetics in Medicine

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“…3 Treatment consists of surgery, radiotherapy and chemotherapy. This is the second case of pineoblastoma associated with 22q11.2 deletion syndrome2 and the first case with a normal prior MRI.…”

Section: Descriptionmentioning

confidence: 73%

Pineoblastoma in a child with 22q11.2 deletion syndrome

Nguyen

Crawford²

2018

BMJ Case Reports

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“…The 22q11.2 microdeletion identified in our proband could explain the clinical features of delayed psychomotor development, hypotonia, poor socialization, frequent episodes of infectious diseases, abnormal findings at electroencephalogram and encephalic MRI, hypocalcemia and hypothyroidism and characteristic facial dysmorphisms. Although 22q11.2DS has not been clearly associated with an increased risk of malignancy, few cases of pediatric cancers have been reported among these patients [10][11][12]: in particular Scattone et al [10] and McDonald-McGinn et al [12] described respectively one and two patients with 22q11.2DS and hepatoblastoma. The distinctive immunodeficiency, predisposing to higher rate of infectious diseases also from carcinogenic viruses and to impaired tumor surveillance, together with the heterozygous deletions of some specific genes involved in detoxification of carcinogenic substances (such as catechol-O-methyltransferase gene) are possible concurrent causes in the complex process of carcinogenesis [11].…”

Section: Discussionmentioning

confidence: 99%

Incidental finding of APC deletion in a child: double trouble or double chance? – a case report

et al. 2021

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Background 22q11.2 deletion syndrome is one of the most common genomic disorders, characterized by the variable presence of facial dysmorphisms, congenital cardiac defects, velopharyngeal insufficiency/cleft palate, thymic hypoplasia/aplasia, immunodeficiency, parathyroid hypoplasia, developmental delay, learning disabilities, psychiatric disorders, renal, ocular, and skeletal malformations, hearing loss and laryngeal abnormalities. Chromosomal microarray (CMA) hybridization is one of the most performed diagnostic tests but as a genome wide analysis, it can point out relevant incidental copy number variations. Case presentation We report the case of a 2-year-old boy that came to our attention for mild psychomotor delay, poor growth, and minor facial anomalies. Considering a diagnosis of 22q11.2 deletion syndrome, we performed CMA that not only confirmed our diagnosis, but also pointed out an additional de novo 5q21.3q22.2 microdeletion, encompassing APC gene. As a result of the genetic testing we enrolled the patient in a tailored surveillance protocol that enabled the early detection of a hepatoblastoma. The child underwent surgical and chemotherapic treatments with complete cancer eradication. Conclusions The concurrent finding of an expected result and an additional deletion of APC gene represents an example of a relevant issue about the health and ethical management of secondary findings revealed by genome-wide tests. Furthermore, this report highlights the need to develop dedicated surveillance guidelines for children with APC-related polyposis and raise the question whether to suspect and screen for APC-related conditions in cases of sporadic hepatoblastomas.

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Risk of malignancy in 22q11.2 deletion syndrome

Cited by 24 publications

References 30 publications

All-cause mortality and survival in adults with 22q11.2 deletion syndrome

All-cause mortality and survival in adults with 22q11.2 deletion syndrome

Pineoblastoma in a child with 22q11.2 deletion syndrome

Incidental finding of APC deletion in a child: double trouble or double chance? – a case report

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