Abstract

Objective

To report the clinicopathologic and proteomic characteristics of a novel form of amyloidosis derived from the precursor protein somatostatin.

Materials and methods

Cases were identified by searching the Mayo Clinic amyloid liquid chromatography and tandem mass spectrometry (LC-MS/MS) typing database from 1 January 2008 to 1 September 2020 for specimens with the amyloid signature proteins and abundant somatostatin, in the absence of other amyloid precursor proteins. All available medical records and pathologic materials were examined.

Results

Somatostatin-derived amyloid deposits were found in four patients, two females and two males, with a median age of 61.5 years (range 47–73 years). One patient also had neurofibromatosis-1. The amyloid in each case was associated with a well-differentiated, somatostatin-producing neuroendocrine tumour arising in the small bowel or pancreas. The amyloid deposits were Congo Red-positive and were readily identified by LC- MS/MS analysis. Somatostatin was present exclusively in somatostatin-associated amyloid cases (p < .001), compared to small bowel and pancreas amyloidosis cases of other types. Long-term follow-up is available for one patient who is alive 6 years after initial presentation.

Conclusion

We propose that somatostatin-related amyloidosis is a novel localised human amyloid type that arises in association with well-differentiated somatostatin-producing enteropancreatic neuroendocrine tumours. Treatment of the associated neuroendocrine tumour may be adequate therapy for these patients.

中文翻译：

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生长抑素衍生的淀粉样变性：一种与高分化产生生长抑素的神经内分泌肿瘤相关的新型淀粉样变性

摘要

客观的

报告源自前体蛋白生长抑素的新型淀粉样变性的临床病理学和蛋白质组学特征。

材料和方法

在 2008 年 1 月 1 日至 2020 年 9 月 1 日期间，通过在 Mayo Clinic 淀粉样蛋白液相色谱和串联质谱 (LC-MS/MS) 分型数据库中搜索具有淀粉样蛋白特征蛋白和丰富的生长抑素的样本，在没有其他淀粉样蛋白前体的情况下确定病例蛋白质。检查了所有可用的医疗记录和病理材料。

结果

在四名患者中发现了生长抑素衍生的淀粉样蛋白沉积物，两名女性和两名男性，中位年龄为 61.5 岁（范围 47-73 岁）。一名患者还患有神经纤维瘤病-1。在每种情况下，淀粉样蛋白都与小肠或胰腺中出现的高分化、产生生长抑素的神经内分泌肿瘤有关。淀粉样蛋白沉积物是刚果红阳性的，并且很容易通过 LC-MS/MS 分析鉴定。 与其他类型的小肠和胰腺淀粉样变性病例相比，生长抑素仅存在于与生长抑素相关的淀粉样蛋白病例中 ( p < .001)。一名在初次就诊后存活 6 年的患者可进行长期随访。

结论

我们提出生长抑素相关的淀粉样变性是一种新的局部人类淀粉样蛋白类型，它与高分化的产生生长抑素的肠胰腺神经内分泌肿瘤有关。对这些患者来说，治疗相关的神经内分泌肿瘤可能是足够的治疗方法。