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: 13 Apr 2018  
 
Reviewer: Shirley V. Hodgson  
 
Reviewer's report:  
 
Please include all comments for the authors in this box rather than uploading your report as an 
attachment. Please only upload as attachments annotated versions of manuscripts, graphs, 
supporting materials or other aspects of your report which cannot be included in a text format.  
Please overwrite this text when adding your comments to the authors.  
This is a case report of a boy with isolated Peutz -Jegher syndrome and a novel germline muta tion 
in the STK11 gene. The report focuses on the novel mutation and the gastrointestinal 
complications, which the authors indicate the need for more intensive screening for young 
children with this condition. The Enhglish is very poor throughout and requi res extensive 
revision. Some examples include:  
"got abdomen cramps", "but not in his parents, which is not recorded in databases.", "diagnosis 
of PJS was affirmed", "endoscopy was applied", "A survey of STK11 gene", "large defection and 
missense  
17 mutatio n", etc.  
The mutation is reasonably described, but 50 unrelated controls is an extremely small number to 
test to see whether it occurs in the general population. The structure predition seems good 
although the picture of the reultant protein is much smalle r then the wild type protein. In the 
figures and the text there is no mention of the classical arborising histology seen in PJS polyps 
despite it being apparent in the histology slide shown.  
The comment that extensive surveillance would be recommended for children from the age of 4 -
5y is not sufficiently discussed in the context of the disadvanateges of such screening in young 
children, and the fact that the patient described in this paper was found to have symptomatic 
polyps from the age of 7y. Also it see ms worrying that one patient discussed from a quoted 
literature survey of 22 paediatric patients on surveillanve developed a post -Laparascopic -DBE 
pelvic  abscess. A more critical review of the pros and cons of such screening in childern would 
be appropria te. 
  
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.  
 
Unable to assess  
 
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:  
 
Not suitable for publication unless extensively edited  
 
Declaration of competing interests  
Please complete a declaration of competing interests, considering the following questions:  
 
1. Have you in the past five years received reimbursements, fees, funding, or salary from an  
organisation that may in any way gain  or lose financially from the publication of this  
manuscript, either now or in the future?  
 
2. Do you hold any stocks or shares in an organisation that may in any way gain or lose  
financially from the publication of this manuscript, either now or in the fut ure? 
 
3. Do you hold or are you currently applying for any patents relating to the content of the  
manuscript?  
 
4. Have you received reimbursements, fees, funding, or salary from an organization that 
holds  or has applied for patents relating to the content of  the manuscript?  
 
5. Do you have any other financial competing interests?  
 
6. Do you have any non -financial competing interests in relation to this paper?  
 
If you can answer no to all of the above, write 'I declare that I have no competing interests' 
below.  If your reply is yes to any, please give details below.  
 
I declare that I have no competing interests  
 
I agree to the open peer review policy of the journal. I understand that my name will be included  
on my report to the authors and, if the manuscript is acce pted for publication, my named report  
including any attachments I upload will be posted on the website along with the authors'  
responses. I agree for my report to be made available under an Open Access Creative Commons  
CC-BY license ( http://creativecommons .org/licenses/by/4.0/ ). I understand that any comments  
which I do not wish to be included in my named report can be included as confidential comments  
to the editors, which will not be published.  
 
I agree to the open peer review policy of the journal  
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: 13 Apr 2018  
 
Reviewer: Shirley V. Hodgson  
 
Reviewer's report:  
 
Please include all comments for the authors in this box rather than uploading your report as an 
attachment. Please only upload as attachments annotated versions of manuscripts, graphs, 
supporting materials or other aspects of your report which cannot be included in a text format.  
Please overwrite this text when adding your comments to the authors.  
This is a case report of a boy with isolated Peutz -Jegher syndrome and a novel germline muta tion 
in the STK11 gene. The report focuses on the novel mutation and the gastrointestinal 
complications, which the authors indicate the need for more intensive screening for young 
children with this condition. The Enhglish is very poor throughout and requi res extensive 
revision. Some examples include:  
"got abdomen cramps", "but not in his parents, which is not recorded in databases.", "diagnosis 
of PJS was affirmed", "endoscopy was applied", "A survey of STK11 gene", "large defection and 
missense  
17 mutatio n", etc.  
The mutation is reasonably described, but 50 unrelated controls is an extremely small number to 
test to see whether it occurs in the general population. The structure predition seems good 
although the picture of the reultant protein is much smalle r then the wild type protein. In the 
figures and the text there is no mention of the classical arborising histology seen in PJS polyps 
despite it being apparent in the histology slide shown.  
The comment that extensive surveillance would be recommended for children from the age of 4 -
5y is not sufficiently discussed in the context of the disadvanateges of such screening in young 
children, and the fact that the patient described in this paper was found to have symptomatic 
polyps from the age of 7y. Also it see ms worrying that one patient discussed from a quoted 
literature survey of 22 paediatric patients on surveillanve developed a post -Laparascopic -DBE 
pelvic  abscess. A more critical review of the pros and cons of such screening in childern would 
be appropria te. 
  
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.  
 
Unable to assess  
 
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:  
 
Not suitable for publication unless extensively edited  
 
Declaration of competing interests  
Please complete a declaration of competing interests, considering the following questions:  
 
1. Have you in the past five years received reimbursements, fees, funding, or salary from an  
organisation that may in any way gain  or lose financially from the publication of this  
manuscript, either now or in the future?  
 
2. Do you hold any stocks or shares in an organisation that may in any way gain or lose  
financially from the publication of this manuscript, either now or in the fut ure? 
 
3. Do you hold or are you currently applying for any patents relating to the content of the  
manuscript?  
 
4. Have you received reimbursements, fees, funding, or salary from an organization that 
holds  or has applied for patents relating to the content of  the manuscript?  
 
5. Do you have any other financial competing interests?  
 
6. Do you have any non -financial competing interests in relation to this paper?  
 
If you can answer no to all of the above, write 'I declare that I have no competing interests' 
below.  If your reply is yes to any, please give details below.  
 
I declare that I have no competing interests  
 
I agree to the open peer review policy of the journal. I understand that my name will be included  
on my report to the authors and, if the manuscript is acce pted for publication, my named report  
including any attachments I upload will be posted on the website along with the authors'  
responses. I agree for my report to be made available under an Open Access Creative Commons  
CC-BY license ( http://creativecommons .org/licenses/by/4.0/ ). I understand that any comments  
which I do not wish to be included in my named report can be included as confidential comments  
to the editors, which will not be published.  
 
I agree to the open peer review policy of the journal  
Please review this paper.
user
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: 13 Apr 2018  
 
Reviewer: Shirley V. Hodgson  
 
Reviewer's report:  
 
Please include all comments for the authors in this box rather than uploading your report as an 
attachment. Please only upload as attachments annotated versions of manuscripts, graphs, 
supporting materials or other aspects of your report which cannot be included in a text format.  
Please overwrite this text when adding your comments to the authors.  
This is a case report of a boy with isolated Peutz -Jegher syndrome and a novel germline muta tion 
in the STK11 gene. The report focuses on the novel mutation and the gastrointestinal 
complications, which the authors indicate the need for more intensive screening for young 
children with this condition. The Enhglish is very poor throughout and requi res extensive 
revision. Some examples include:  
"got abdomen cramps", "but not in his parents, which is not recorded in databases.", "diagnosis 
of PJS was affirmed", "endoscopy was applied", "A survey of STK11 gene", "large defection and 
missense  
17 mutatio n", etc.  
The mutation is reasonably described, but 50 unrelated controls is an extremely small number to 
test to see whether it occurs in the general population. The structure predition seems good 
although the picture of the reultant protein is much smalle r then the wild type protein. In the 
figures and the text there is no mention of the classical arborising histology seen in PJS polyps 
despite it being apparent in the histology slide shown.  
The comment that extensive surveillance would be recommended for children from the age of 4 -
5y is not sufficiently discussed in the context of the disadvanateges of such screening in young 
children, and the fact that the patient described in this paper was found to have symptomatic 
polyps from the age of 7y. Also it see ms worrying that one patient discussed from a quoted 
literature survey of 22 paediatric patients on surveillanve developed a post -Laparascopic -DBE 
pelvic  abscess. A more critical review of the pros and cons of such screening in childern would 
be appropria te. 
  
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.  
 
Unable to assess  
 
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:  
 
Not suitable for publication unless extensively edited  
 
Declaration of competing interests  
Please complete a declaration of competing interests, considering the following questions:  
 
1. Have you in the past five years received reimbursements, fees, funding, or salary from an  
organisation that may in any way gain  or lose financially from the publication of this  
manuscript, either now or in the future?  
 
2. Do you hold any stocks or shares in an organisation that may in any way gain or lose  
financially from the publication of this manuscript, either now or in the fut ure? 
 
3. Do you hold or are you currently applying for any patents relating to the content of the  
manuscript?  
 
4. Have you received reimbursements, fees, funding, or salary from an organization that 
holds  or has applied for patents relating to the content of  the manuscript?  
 
5. Do you have any other financial competing interests?  
 
6. Do you have any non -financial competing interests in relation to this paper?  
 
If you can answer no to all of the above, write 'I declare that I have no competing interests' 
below.  If your reply is yes to any, please give details below.  
 
I declare that I have no competing interests  
 
I agree to the open peer review policy of the journal. I understand that my name will be included  
on my report to the authors and, if the manuscript is acce pted for publication, my named report  
including any attachments I upload will be posted on the website along with the authors'  
responses. I agree for my report to be made available under an Open Access Creative Commons  
CC-BY license ( http://creativecommons .org/licenses/by/4.0/ ). I understand that any comments  
which I do not wish to be included in my named report can be included as confidential comments  
to the editors, which will not be published.  
 
I agree to the open peer review policy of the journal  
assistant