The 22q11.2 deletion syndrome: Cancer predisposition, platelet abnormalities and cytopenias

• Published in: American journal of medical genetics. Part A Vol. 176; no. 10; pp. 2121 - 2127
• Main Authors: Lambert, Michele P., Arulselvan, Abinaya, Schott, Amanda, Markham, Stephen J., Crowley, Terrance B., Zackai, Elaine H., McDonald‐McGinn, Donna M.
• Format: Journal Article
• Language: English
• Published: United States Wiley Subscription Services, Inc 01.10.2018
• Subjects: Cancer; Coronary artery disease; Cytopenia; Heart diseases; Hypocalcemia; Immunodeficiency; Malignancy; Platelets
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.38474

The 22q11.2 deletion syndrome (DS) is associated with variable phenotypic expression as findings range from severely affected individuals with the classical triad of DiGeorge and velocardiofacial syndromes, including congenital heart disease, immunodeficiency, hypocalcemia, and palatal abnormalities, to subtly affected adults who only come to attention following the diagnosis of a more severely affected child. The multiple manifestations can affect all organ systems, including the hematologic system resulting in baseline lower platelet counts for individuals with 22q11.2DS and increased platelet size. In addition, there may be an associated increased risk of bleeding. Individuals with 22q11.2DS are also at increased risk of autoimmune cytopenias that can complicate the evaluation or management of other manifestations. Finally, there may be an increased risk of malignancy, although the mechanism for this risk is not fully understood. This review summarizes the currently available data on hematologic/oncologic manifestations of 22q11.2DS and reports on our findings within a large cohort of individuals with the deletion.