Review for 10.1186/s12876-019-0987-z (2019)

Reviewer ’s report  
 
Title: Early screening the small bowel is key to protect Peutz -Jeghers Syndrome patients from 
surgery: a novel mutation c.243delG in STK11 gene  
 
Version: 0 Date: 23 Jan 2018  
 
Reviewer: Andrzej Plawski  
 
Reviewer's report:  
 
The authors made good work.  
They diagnosed correctly the PJS patients and confirmed their clinical diagnosis by detecti on of 
frameshift mutation c.243delG in  STK11. Due to the c.243delG in novel mutation they wide 
analyze an impact of the mutation  on the protein product and its activity. The main point of the 
report is the age of the baseline colonoscopy and upper GI end oscopy should be performed. 
There are recommendation, to perform it at the age of 8. But in the presented case the symptoms 
occurred earlier. Screening strategy must avoid most of patients  from severe conditions and in 
the case of PJS it may be worthy to discuss the base age. The PJS is not frequent condition and 
anther cases, deepen knowledge and may led to improve the patients care.  
The  PJS is a syndrome increasing cancer risk in various organs. As we know in young boy there  
is the increased risk of te sticular tumors and it may occur at age of 5, but the authors did not 
mention about any other examination of the patient. It should be added  
Are the methods appropriate and well described?  
If not, please specify what is required in your comments to the authors.  
 
Yes 
 
Does the work include the necessary controls?  
If not, please specify which controls are required in your comments to the authors.  
 
Yes 
 
Are the conclusions drawn adequately supported by the data shown?  
If not, please explain in your comments to the authors.  
 
Yes 
 
  
Are you able to assess any statistics in the manuscript or would you recommend an  
additional statistical review?  
If an additional  statistical review is recommended, please specify what aspects require further  
assessment in your comments to the editors.  
 
Not relevant to this manuscript  
 
Quality of written English  
Please indicate the quality of language in the manuscript:  
 
Acceptable  
 
Declaration of competing interests  
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