Giudici Francesco, Cavalli Tiziana, Giusti Francesca, Gronchi Giorgio, Batignani Giacomo, Tonelli Francesco, Brandi Maria Luisa
Department of Surgery and Translational Medicine, University of Florence, Largo Brambilla 3, 50139, Florence, Italy.
World J Surg. 2017 Sep;41(9):2312-2323. doi: 10.1007/s00268-017-4019-2.
The multiple endocrine neoplasia type 1 syndrome (MEN1) natural history is poorly evaluated, and few single-institution experiences about hereditary gastroenteropancreatic neuroendocrine tumors (GEP-NET) are reported. Our purpose is to analyze the role of GEP-NET in MEN1-related death, as well as the behavior of these lesions during follow-up.
The study population consists of 77 patients diagnosed with MEN1 GEP-NET, regularly followed up since 1990. Extensive clinical data were prospectively recorded. Statistical analysis was performed both on the whole population of 77 patients and on two subgroups including patients who, during the long lasting study period, underwent GEP-NET surgery (50 pts) and who did not (27 pts), respectively.
Twenty-five males (32.5%) and 52 females (67.5%) were enrolled. Sixty-four patients had MEN1 family history (83.1%), and genetic mutation was detected in 67 cases (87%). The mean age at GEP-NET diagnosis was 41.4 years (SD = 13.6); 16 patients (20.8%) had GEP-NET diagnosed before age 30 and 12 cases (15.6%) before 1996. The mean interval time between MEN1 diagnosis and GEP-NET detection was 5.7 years (range -11/37; SD = 8.1 years). Overall, the mean follow-up time from MEN1 diagnosis was 15.8 years (SD = 9.7 years) and from GEP-NET diagnosis was 9.6 years (SD = 6.9 years). Gastrinoma was the most frequent functioning GEP-NET and pancreatoduodenectomy the most adopted surgery. GEP-NET progression affected 12 patients within the non-surgical group, while 18 subjects developed progression after surgery.
Our single-center data provide information on epidemiologic, clinical and pathological features of GEP-NET in MEN1 making possible to clarify their natural history.
1型多发性内分泌腺瘤综合征(MEN1)的自然病程评估不足,且关于遗传性胃肠胰神经内分泌肿瘤(GEP-NET)的单机构经验报道较少。我们的目的是分析GEP-NET在MEN1相关死亡中的作用,以及这些病变在随访期间的行为。
研究人群包括77例诊断为MEN1 GEP-NET的患者,自1990年起定期随访。前瞻性记录了广泛的临床数据。对77例患者的总体人群以及两个亚组进行了统计分析,这两个亚组分别包括在长期研究期间接受GEP-NET手术的患者(50例)和未接受手术的患者(27例)。
纳入25例男性(32.5%)和52例女性(67.5%)。64例患者有MEN1家族史(83.1%),67例检测到基因突变(87%)。GEP-NET诊断时的平均年龄为41.4岁(标准差=13.6);16例患者(20.8%)在30岁之前诊断为GEP-NET,12例患者(15.6%)在1996年之前诊断。MEN1诊断与GEP-NET检测之间的平均间隔时间为5.7年(范围-11/37;标准差=8.1年)。总体而言,从MEN1诊断开始的平均随访时间为15.8年(标准差=9.7年),从GEP-NET诊断开始的平均随访时间为9.6年(标准差=6.9年)。胃泌素瘤是最常见的功能性GEP-NET,胰十二指肠切除术是最常采用的手术。非手术组中有12例患者出现GEP-NET进展,而18例患者在手术后出现进展。
我们的单中心数据提供了关于MEN1中GEP-NET的流行病学、临床和病理特征的信息,从而有可能阐明其自然病程。