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: 20 Apr 2018  
 
Reviewer: Randall W Burt  
 
Reviewer's report:  
 
This case report describes a child with Peutz -Jeghers syndrome.  The patient developed 
symptoms related to colonic and small bowel polyps, which were found and treated.  The child 
also had a  de novo and unique STK11 mutation that was carefully found and verified.  
Several items would be very helpful to this report.  
 
The authors should give:  
1. The fraction of expected de novo mutations in this disease (often stated to be about 25%).   
 
2. A clear statement of the generally agreed upon screening and surveillance recommendations 
for the large and small bowel in Peutz -Jegher's syndrome ---a table would be good for this.  
Several papers are quoted, but a summary recommendation would be very helpful.   
Not as relevant to this paper, but nonetheless very important to the management of Peutz -Jeghers 
syndrome would be a table summarizing the cancer risks and screening guidelines for GI and 
non-GI malignancies.  This is optional but may be very helpful.  A t least a reference to this 
information should be given.   
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  
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: 20 Apr 2018  
 
Reviewer: Randall W Burt  
 
Reviewer's report:  
 
This case report describes a child with Peutz -Jeghers syndrome.  The patient developed 
symptoms related to colonic and small bowel polyps, which were found and treated.  The child 
also had a  de novo and unique STK11 mutation that was carefully found and verified.  
Several items would be very helpful to this report.  
 
The authors should give:  
1. The fraction of expected de novo mutations in this disease (often stated to be about 25%).   
 
2. A clear statement of the generally agreed upon screening and surveillance recommendations 
for the large and small bowel in Peutz -Jegher's syndrome ---a table would be good for this.  
Several papers are quoted, but a summary recommendation would be very helpful.   
Not as relevant to this paper, but nonetheless very important to the management of Peutz -Jeghers 
syndrome would be a table summarizing the cancer risks and screening guidelines for GI and 
non-GI malignancies.  This is optional but may be very helpful.  A t least a reference to this 
information should be given.   
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  
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: 20 Apr 2018  
 
Reviewer: Randall W Burt  
 
Reviewer's report:  
 
This case report describes a child with Peutz -Jeghers syndrome.  The patient developed 
symptoms related to colonic and small bowel polyps, which were found and treated.  The child 
also had a  de novo and unique STK11 mutation that was carefully found and verified.  
Several items would be very helpful to this report.  
 
The authors should give:  
1. The fraction of expected de novo mutations in this disease (often stated to be about 25%).   
 
2. A clear statement of the generally agreed upon screening and surveillance recommendations 
for the large and small bowel in Peutz -Jegher's syndrome ---a table would be good for this.  
Several papers are quoted, but a summary recommendation would be very helpful.   
Not as relevant to this paper, but nonetheless very important to the management of Peutz -Jeghers 
syndrome would be a table summarizing the cancer risks and screening guidelines for GI and 
non-GI malignancies.  This is optional but may be very helpful.  A t least a reference to this 
information should be given.   
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  
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