The Histopathology of PRSS1 Hereditary Pancreatitis
The Histopathology of PRSS1 Hereditary Pancreatitis
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DOI：
10.1097/pas.0000000000000164
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发表时间：
2014-03-01
影响因子：
5.6
通讯作者：
Humar, Abhinav
中科院分区：
文献类型：
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作者：
Singhi, Aatur D.;Pai, Reetesh K.;Humar, Abhinav
遗传性胰腺炎是一种常染色体显性遗传性疾病，发病率为80%，表现程度不一。绝大多数病例与阳离子胰蛋白酶原基因（也称为丝氨酸蛋白酶1（PRSS 1））内的突变有关。除遗传外，PRSS 1胰腺炎在临床和病理上与其他慢性胰腺炎病因无法区分。然而，迄今为止，PRSS 1胰腺炎的组织学表现还没有得到很好的描述。因此，我们收集了10例不同年龄的PRSS 1患者的胰腺标本，并研究了其临床病理特征。切除时患者的年龄范围为9 - 66岁（中位数，29岁），女性略占优势（60%）。所有患者均报告间歇性腹痛病史，发病年龄从婴儿期至21岁。肉眼和显微镜检查结果表明，随着患者年龄的增加，变化呈连续模式。在儿科患者（n=4）中，尽管在大多数情况下胰腺大体正常，但小叶大小和形状存在显微镜下变化。虽然胰腺的中心部分表现为实质性损失，伴有松散的小叶周围和小叶间纤维化，但外周明显被成熟的脂肪组织替代。这些变化在年轻成人（n=2）中更为发达，其中脂肪替代似乎从胰腺的外围延伸到中央部分。对于老年患者（n=4），胰腺显示明显萎缩，并被成熟脂肪组织广泛替代，伴有分散的胰岛和罕见的腺泡上皮集中在主胰管附近。总之，PRSS 1遗传性胰腺炎的特征是胰腺进行性脂肪瘤样萎缩。
Hereditary pancreatitis is an autosomal dominant disorder with 80% penetrance and variable expressivity. The vast majority of cases have been linked to mutations within the cationic trypsinogen gene, also referred to as serine protease 1 (PRSS1). Other than inheritance, PRSS1 pancreatitis has been considered clinically and pathologically indistinguishable from other etiologies of chronic pancreatitis. However, to date, the histologic findings of PRSS1 pancreatitis have not been well described. We, therefore, collected pancreatic specimens from 10 PRSS1 patients of various ages and examined their clinicopathologic features. Patients at the time of resection ranged in age from 9 to 66 years (median, 29 y), with a slight female predominance (60%). All patients reported a history of intermittent abdominal pain, with an age of onset ranging from infancy to 21 years of age. Examination of the gross and microscopic findings suggested a sequential pattern of changes with increasing patient age. In pediatric patients (n=4), although in most cases the pancreas was grossly normal, there was microscopic variation in lobular size and shape. Although the central portions of the pancreas displayed parenchymal loss accompanied by loose perilobular and interlobular fibrosis, the periphery was remarkable for replacement by mature adipose tissue. These changes were more developed in younger adults (n=2), in whom fatty replacement seemed to extend from the periphery to the central portions of the pancreas. With older patients (n=4), the pancreas showed marked atrophy and extensive replacement by mature adipose tissue with scattered islets of Langerhans and rare acinar epithelium concentrated near the main pancreatic duct. In summary, PRSS1 hereditary pancreatitis is characterized by progressive lipomatous atrophy of the pancreas.