Department of Health Sciences, University of Florence, Florence, Italy.
Paediatric Immunology Division, Meyer Children's Hospital IRCCS, Florence, Italy.
Front Endocrinol (Lausanne). 2023 Aug 10;14:1209577. doi: 10.3389/fendo.2023.1209577. eCollection 2023.
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.
22q11.2 号染色体缺失综合征包括表型相似的疾病，其特征为第三和第四鳃弓发育异常，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因胸腺功能障碍导致免疫系统受损的各种组合。其他遗传综合征，通常称为 DiGeorge 样综合征，与 22q11.2 号染色体缺失综合征具有临床和免疫学特征。该综合征与恶性肿瘤的相关性罕见，主要为血液系统，但也包括肝脏、肾脏和大脑恶性肿瘤。虽然迄今为止尚未对具有这种临床表型的患者甲状腺肿瘤的发展进行汇总数据研究，但头颈部恶性肿瘤也罕见报道。
为了明确这种可能的相关性，进行了多中心调查。因此，我们报告了五例儿科患者的病例系列，这些患者患有 22q11.2 号染色体缺失综合征或 DiGeorge 样综合征，在随访期间偶尔发现甲状腺确认或高度疑似的肿瘤。在三种情况下，通过组织学确认了恶性肿瘤，但由于可疑结节的早期识别和早期手术，其预后良好。
本研究强调了对于患有这些综合征的患者，头颈部区域发生肿瘤的风险较高。它还强调了对具有这种临床和免疫学表型的患者进行长期临床和超声随访的重要性。
