Scott R J, Crooks R, Meldrum C J, Thomas L, Smith C J A, Mowat D, McPhillips M, Spigelman A D
Discipline of Medical Genetics, Faculty of Health, University of Newcastle, NSW, Australia.
Clin Genet. 2002 Oct;62(4):282-7. doi: 10.1034/j.1399-0004.2002.620405.x.
Peutz-Jeghers syndrome (PJS) is a rare cancer predisposition, which is characterized by the presence of hamartomatous polyposis and mucocutaneous pigmentation. A significant proportion of both familial and sporadic forms of this disorder are associated with mutations in the STK11 (serine/threonine kinase 11)/LKB1 gene. In this report we present a series of Australian PJS cases, which suggest that mutations in the STK11 gene do not account for many families or patients without a family history. The most likely explanation is either the presence of another susceptibility gene or genetic mosaicism in the non-familial patients.
黑斑息肉综合征（PJS）是一种罕见的癌症易感疾病，其特征为存在错构瘤性息肉病和皮肤黏膜色素沉着。该疾病的家族性和散发性形式中，很大一部分与STK11（丝氨酸/苏氨酸激酶11）/LKB1基因的突变有关。在本报告中，我们呈现了一系列澳大利亚PJS病例，这些病例表明，STK11基因的突变并不能解释许多家族性病例或无家族病史的患者。最可能的解释是，非家族性患者中存在另一种易感基因或基因镶嵌现象。
