Butel-Simoes G I, Spigelman A D, Scott R J, Vilain R E
Monash Health, Monash Medical Centre, Clayton, VIC, Australia.
Hunter Family Cancer Service, Newcastle, NSW, Australia.
Fam Cancer. 2019 Jan;18(1):109-112. doi: 10.1007/s10689-018-0093-3.
We report the case of a female found to have mosaicism for mutation in the STK11 gene, with the mutant allele expressed in her gametes, evident by her affected offspring, and in her gastrointestinal tract demonstrated on an excised polyp analysed for diagnosis. Mosaicism for Peutz-Jeghers syndrome (PJS) has been reported in a small number of cases previously but a clinical presentation such as this has not previously been described. This finding of mosaicism was several years after initial investigations failed to identify the same STK11 mutation in this woman whose son was diagnosed with PJS at a young age. This case highlights the importance of considering mosaicism as an explanation for apparent de novo cases of PJS syndrome. It also has implications for genetic counselling, predictive testing and cancer screening.
我们报告了一例女性病例，该女性被发现存在STK11基因突变的嵌合体现象，其突变等位基因在她的配子中表达，这从她受影响的后代中得以体现，并且在为诊断而分析的切除息肉中显示出在她的胃肠道中也存在该突变。此前已有少数关于黑斑息肉综合征（PJS）嵌合体现象的病例报道，但像这样的临床表现此前尚未被描述过。在对该女性进行初步调查时未能发现相同的STK11突变，几年后才发现这种嵌合体现象，该女性的儿子在幼年时被诊断患有PJS。这个病例突出了将嵌合体现象视为PJS综合征明显新发病例的一种解释的重要性。它对遗传咨询、预测性检测和癌症筛查也具有重要意义。
