Review for 10.1186/s12876-020-01238-7 (2020)

Reviewer’ s report
Title: Juvenile polyposis syndrome might be misdiagnosed as familial adenomatous polyposis: a
case report and literature review
Version: 1Date: 28 Feb 2020
Reviewer: Masami Arai
Reviewer's report:
Again, do authors have any experience of pedunculated polyps (like Fig.1C) or polyps with
irregular surface (like Fig 1D) in FAP? Almost all polyps in FAP are sessile and homogeneous insize. I believe early education for endoscopists are critical. The farther's case could be alsodiagnosed JPS only by macroscopic findings. I think overconfidence of pathological findingssometimes lead to misdiagnosis.I will entrust the editor with the acceptance of this article aftersome issues described below are cleared. 1) Do you use commercial hereditary panel testing? Howmany genes do you order to analyze? All genes analyzed should be listed in page 7, line25.2) Thepedigree tree in Fig.6A is still incomplete. Cause of death and onset of cancer should be insertedbelow present age. Furthermore, E+(c.949_952del BMPR1A) should be inserted below rectalcancer et al.3) ClinVar carried the same variant , but there are no citations in ClinVar for thisvariation. They ask to submit this information of the variant to ClinVar.4) I recommend that newparameter i.e., characteristics of extracolonic lesions should be added in Table1.
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 assessAre the conclusions drawn adequately supported by the data shown?
If not, please explain in your comments to the authors.
YesAre 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 furtherassessment in your comments to the editors.
Not relevant to this manuscript
Quality of written English
Please indicate the quality of language in the manuscript:
AcceptableDeclaration of competing interests
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