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Special Issue “Advances in Molecular Research on Autoimmune Diseases”
 
 
Case Report
Peer-Review Record

Double Heterozygous Pathogenic Variants in TP53 and CHEK2 in Boy with Undifferentiated Embryonal Sarcoma of the Liver

Int. J. Mol. Sci. 2024, 25(21), 11489; https://doi.org/10.3390/ijms252111489
by Michaela Kuhlen 1,*, Tina Schaller 2, Sebastian Dintner 2, Nicole Stadler 1, Thomas G. Hofmann 3, Maximilian Schmutz 4, Rainer Claus 2,5, Michael C. Frühwald 1,† and Monika M. Golas 6,†
Reviewer 1: Anonymous
Reviewer 2: Anonymous
Int. J. Mol. Sci. 2024, 25(21), 11489; https://doi.org/10.3390/ijms252111489
Submission received: 6 October 2024 / Revised: 21 October 2024 / Accepted: 25 October 2024 / Published: 25 October 2024
(This article belongs to the Section Molecular Oncology)

Round 1

Reviewer 1 Report

Comments and Suggestions for Authors

The submitted manuscript presents the case report on the double heterozygous pathogenic mutations in TP53 and CHEK2 in a male patient with undifferentiated embryonal sarcoma of the liver.

The manuscript is well written, concise, informative. The presented case is rare and important at the same time. There are some editorial mistakes, i.e. I don’t know why the references are highlighted with yellow color. However, taking into account that the type of the article is “case report”, the manuscript can be accepted after minor revision.

Minor revisions:

It should be stated how often were the ultrasound and MRI scans performed, starting from age 9.1

Line 66, at this moment the authors should briefly state the aim of the study

Line 76, please list the APIs used for adjuvant chemotherapy

Lines 87 and 94 and 105, “years” can be removed

Line 93, it should be “as a”

Line 157, what about the adult population?

Line 203, here a conclusions sentence/section should be added

References: the comment of the editor regarding the references style was not addressed, so far, but I guess it will be updated

 

 

Author Response

Please see the attachment.

Author Response File: Author Response.pdf

Reviewer 2 Report

Comments and Suggestions for Authors

Manuscript entitled "Double heterozygous pathogenic variants in TP53 and CHEK2 in a boy with undifferentiated embryonal sarcoma of the liver"

Major issues:

1. The authors should provide a table summarizing the NGS findings in both liver tumor and germline material. The SNV/Indel, CNV, Fusion should be provided. The authors are encouraged to provide the vcf file as the supplementary files.

2. The immunohistochemistry profile of the tumors should be provided.

3. The radiographic image of this case should be provided. 

4. A figure summarizing the history and therapeutic protocol should be provided.

Author Response

Please see the attachment.

Author Response File: Author Response.pdf

Round 2

Reviewer 2 Report

Comments and Suggestions for Authors

The revision is acceptable.

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