临床因素预测神经内分泌肿瘤患者的多发性内分泌腺瘤病 1 型和 4 型。
Clinical Factors Predicting Multiple Endocrine Neoplasia Type 1 and Type 4 in Patients with Neuroendocrine Tumors.
机构信息
Endocrinology Unit, Sant'Andrea Hospital, ENETS Center of Excellence, 00189 Rome, Italy.
Department of Clinical and Molecular Medicine, Sapienza University of Rome, 00189 Rome, Italy.
出版信息
Genes (Basel). 2023 Sep 10;14(9):1782. doi: 10.3390/genes14091782.
UNLABELLED
The aim of this study is to evaluate the predictive role of specific clinical factors for the diagnosis of Multiple Endocrine Neoplasia type-1 (MEN1) and type-4 (MEN4) in patients with an initial diagnosis of gastrointestinal, bronchial, or thymic neuroendocrine tumor (NET).
METHODS
Patients referred to the NET Unit between June 2021 and December 2022 with a diagnosis of NET and at least one clinical criterion of suspicion for MEN1 and MEN4 underwent molecular analysis of the and genes. Phenotypic criteria were: (1) age ≤ 40 years; (2) NET multifocality; (3) MEN1/4-associated manifestations other than NETs; and (4) endocrine syndrome related to NETs or pituitary/adrenal tumors.
RESULTS
A total of 22 patients were studied. In 18 patients (81.8%), the first-level genetic test was negative (Group A), while four patients (25%) were positive for (Group B). No patient was positive for . In Group A, 10 cases had only one clinical criterion, and three patients met three criteria. In Group B, three patients had three criteria, and one met all criteria.
CONCLUSION
These preliminary data show that a diagnosis of NET in patients with a negative family history is suggestive of MEN1 in the presence of ≥three positive phenotypic criteria, including early age, multifocality, multiple MEN-associated manifestations, and endocrine syndromes. This indication may allow optimization of the diagnosis of MEN in patients with NET.
目的
本研究旨在评估特定临床因素对初始诊断为胃肠道、支气管或胸腺神经内分泌肿瘤（NET）的患者中多发性内分泌肿瘤 1 型（MEN1）和 4 型（MEN4）的诊断的预测作用。
方法
2021 年 6 月至 2022 年 12 月期间，因 NET 而被转介至 NET 专科的患者，且至少有一项 MEN1 和 MEN4 的可疑临床标准，进行 和 基因的分子分析。表型标准为：（1）年龄≤40 岁；（2）NET 多发病灶；（3）MEN1/4 相关的 NET 以外的表现；（4）与 NETs 或垂体/肾上腺肿瘤相关的内分泌综合征。
结果
共研究了 22 例患者。在 18 例患者（81.8%）中，一级基因检测为阴性（A 组），而 4 例患者（25%）为 阳性（B 组）。没有患者 阳性。在 A 组中，10 例仅有一个临床标准，3 例患者符合三个标准。在 B 组中，3 例患者有三个标准，1 例符合所有标准。
结论
这些初步数据表明，在存在≥三个阳性表型标准（包括早发年龄、多发病灶、多个 MEN 相关表现和内分泌综合征）的情况下，对于阴性家族史的 NET 患者的诊断提示为 MEN1。该指标可能有助于优化 NET 患者的 MEN 诊断。
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