Case Report: Two Distinct Focal Congenital Hyperinsulinism Lesions Resulting From Separate Genetic Events.
Case Report: Two Distinct Focal Congenital Hyperinsulinism Lesions Resulting From Separate Genetic Events.
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DOI：
10.3389/fped.2021.699129
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发表时间：
2021
影响因子：
2.6
通讯作者：
De León DD
中科院分区：
文献类型：
--
作者：
Rosenfeld E;Mitteer L;Boodhansingh K;Becker SA;McKnight H;Boyajian L;Ackermann AM;Kalish JM;Bhatti TR;States LJ;Adzick NS;Lord K;De León DD
局灶性高胰岛素血症(HI)占所有手术治疗的HI病例的近50%，如果病灶能被完全切除，就能治愈。因此，术前病变的定位是至关重要的。很少有高胰岛素血症合并多灶性病变的报道，对导致这种罕见事件的分子机制的评估也是有限的。我们报告两个多灶性HI病例，每个病例都是由两个独立的胰腺局灶性病变引起的。18F-二羟基苯丙氨酸正电子发射断层扫描/计算机断层扫描在1例术前发现两个病灶，而另1例在手术探查中偶然发现第二个病灶。病灶完全切除后，两例HI均治愈。在每个患者中，个别局灶性病变的基因测试显示母体11p15等位基因杂合性丢失的不同区域，证实每个病变都是在父系遗传的种系ABCC8突变的背景下发生的独立的躯体事件。这些病例突显了多学科和个人化的方法对HI婴儿进行管理的重要性。
Focal hyperinsulinism (HI) comprises nearly 50% of all surgically treated HI cases and is cured if the focal lesion can be completely resected. Pre-operative localization of the lesion is thus critical. Few cases of hyperinsulinism with multiple focal lesions have been reported, and assessment of the molecular mechanisms driving this rare occurrence has been limited. We present two cases of multifocal HI, each resulting from two independent, pancreatic focal lesions. 18Fluoro-dihydroxyphenylalanine positron emission tomography/computed tomography detected both lesions preoperatively in one patient, whereas identification of the second lesion was an incidental finding during surgical exploration in the other. Complete resection of the focal lesions resulted in cure of the HI in both cases. In each patient, genetic testing of the individual focal lesions revealed different regions of loss of heterozygosity for the maternal 11p15 allele, confirming that each lesion arose from independent somatic events in the setting of a paternally inherited germline ABCC8 mutation. These cases highlight the importance of a multidisciplinary and personalized approach to the management of infants with HI.
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影响因子：
14.9
作者：
Desmet FO;Hamroun D;Lalande M;Collod-Béroud G;Claustres M;Béroud C
通讯作者：
Béroud C
影响因子：
5.8
作者：
Snider, K. E.;Becker, S.;Ganguly, A.
通讯作者：
Ganguly, A.
影响因子：
2.4
作者：
Adzick, N. Scott;De Leon, Diva D.;Stanley, Charles A.
通讯作者：
Stanley, Charles A.
影响因子：
64.8
作者：
Karczewski, Konrad J;Francioli, Laurent C;MacArthur, Daniel G
通讯作者：
MacArthur, Daniel G
影响因子：
5.6
作者：
GOOSSENS, A;GEPTS, W;KLOPPEL, G
通讯作者：
KLOPPEL, G