22q11.2染色体缺失综合征包括表型相似的疾病，其特征是第三和第四支鳃弓的异常发育，导致先天性心脏缺陷、畸形、低钙血症、腭功能障碍、发育或神经精神障碍、以及由胸腺功能障碍引起的免疫系统障碍的不同组合。其他遗传综合征，通常称为类DiGeorge综合征，与22q11.2染色体缺失综合征具有临床和免疫学特征的共同点。这种综合征很少与癌症相关，主要是血液系统的恶性肿瘤，但也包括肝脏、肾脏和大脑的恶性肿瘤。尽管目前还没有关于这种临床表型患者甲状腺肿瘤发展的聚集数据，但罕见地有关于头颈部区域恶性肿瘤的描述。为了了解这种可能的关联，我们进行了多中心调查。因此，我们介绍了五例患有22q11.2染色体缺失综合征或类DiGeorge综合征的儿科患者，随访期间偶然发现其甲状腺出现已确诊或高度怀疑的肿瘤。在三例病例中，肿瘤经组织学确认，但由于对可疑结节的早期识别和及早手术，其预后良好。本研究强调了临床医生对这些综合征患者头颈区域肿瘤的更高风险，并强调了对这种临床和免疫表型患者进行长期临床和超声随访的重要性。

The chromosome 22q11.2 deletion syndrome comprises phenotypically similar diseases characterized by abnormal development of the third and fourth branchial arches, resulting in variable combinations of congenital heart defects, dysmorphisms, hypocalcemia, palatal dysfunction, developmental or neuropsychiatric disorders, and impairment of the immune system due to thymic dysfunction. Other genetic syndromes, often called DiGeorge-like, share clinical and immunological features with 22q11.2 deletion syndrome. This syndrome has been rarely associated with malignancies, mainly hematological but also hepatic, renal, and cerebral. Rarely, malignancies in the head and neck region have been described, although no aggregate of data on the development of thyroid neoplasms in patients with this clinical phenotype has been conducted so far.To characterize this possible association, a multicenter survey was made. Thus, we present a case series of five pediatric patients with 22q11.2 deletion syndrome or DiGeorge-like syndrome who were occasionally found with confirmed or highly suspected neoplasms of the thyroid gland during their follow-up. In three cases, malignancies were histologically confirmed, but their outcome was good due to an early recognition of suspicious nodules and precocious surgery.This study underlines for clinicians the higher risk of neoplasms in the head and neck district for patients affected by these syndromes. It also emphasizes the importance of a prolonged clinical and ultrasound follow-up for patients with this clinical and immunological phenotype.Copyright © 2023 Sarli, Ricci, Lodi, Cavone, Pacillo, Giancotta, Ubertini, Baroncelli, Cancrini, Azzari and Stagi.