GLI1-Altered Mesenchymal Tumours in the Head and Neck: A Case Report and Literature Review
, Johannes Alexander Lobrinus 2, Minerva Becker 3 and Nicolas Dulguerov 1Round 1
Reviewer 1 Report
Comments and Suggestions for AuthorsThis article gives a case report and literature review of GLI1-altered mesenchymal tumors. I agree with authors that increased awareness of these entities would be beneficial to the field. They report 2 of 32 cases reported found tumor necrosis and some presented with ulcerations. Were these associated with larger tumors?
Author Response
This article gives a case report and literature review of GLI1-altered mesenchymal tumors. I agree with authors that increased awareness of these entities would be beneficial to the field. They report 2 of 32 cases reported found tumor necrosis and some presented with ulcerations. Were these associated with larger tumors?
The available data don't seem to show an association between an increased tumour size and necrosis. Out of the 17 cases reporting the tumour size (ranging from 0.9cm to 6cm), none of those showed necrosis. Actually, out of the 32, only 2 tumours showed necrosis. But unfortunately, the size data for those 2 tumours is not described in the related article.
Reviewer 2 Report
Comments and Suggestions for Authors
1. In the introduction “GLI1-altered mesenchymal tumor is a new diagnostic entity of which all surgeons operating in the head and neck region, radiologists and pathologists should now be aware, especially when dealing with an atypical presentation of a head and neck mass. (lines 35-37)” the bibliographic references that support this argument are required.
2. In line 65, review the language “removed in toto”
3. It would be desirable to perform immunohistochemical analysis for CDK4 and MDM2, although the imaging data and the clinic support the non-malignant behavior of the tumor, a larger panel of immunohistochemical markers could be performed to determine a embryonal rhabdomyosarcoma diagnosis, although the authors performed an amplification analysis for cdk4 and mdm2, there could be mutations that affect their protein expression without affecting their copy gene number.
Author Response
- In the introduction “GLI1-altered mesenchymal tumor is a new diagnostic entity of which all surgeons operating in the head and neck region, radiologists and pathologists should now be aware, especially when dealing with an atypical presentation of a head and neck mass. (lines 35-37)” the bibliographic references that support this argument are required.
Response 1 : We could cite for example :
Yeung MCF, Liu APY, Wong SI, Loong HH, Shek TWH. GLI1-Altered Mesenchymal Tumor-Multiomic Characterization of a Case Series and Patient-Level Meta-analysis of One Hundred Sixty-Seven Cases for Risk Stratification. Mod Pathol. 2024 Oct 21;38(1):100635. doi: 10.1016/j.modpat.2024.100635. Epub ahead of print. PMID: 39442668.
As they begin their introduction with "GLI1-altered mesenchymal tumors represent an emerging molecularly defined group of tumors characterized by either GLI1 fusion or amplification. ", which supports our argument that these kind of tumour is a new entity that rouses interest in the medical field. The argument that specialists in the field should be aware of this entity is our beliefs, mainly because its reporting in the literature has been thriving in the last years (as we can see here : https://esperr.github.io/pubmed-by-year/?q1=gli1%20alteration%20tumour).
If you prefer, we can cite Yeung et al. , or we could add in the text the argument its reporting in the literature has been thriving in the last years and add as reference the pubmed statistic.
2. In line 65, review the language “removed in toto”
Response 2 : "in toto" has been changed to "entirely"
3. It would be desirable to perform immunohistochemical analysis for CDK4 and MDM2, although the imaging data and the clinic support the non-malignant behavior of the tumor, a larger panel of immunohistochemical markers could be performed to determine a embryonal rhabdomyosarcoma diagnosis, although the authors performed an amplification analysis for cdk4 and mdm2, there could be mutations that affect their protein expression without affecting their copy gene number.
Response 3 : Our pathologist college agrees with you that it would have been safer to perform CDK4 and MDM2 immunohistochemical analysis. He added that, as you mentioned, the imaging assessment and the clinic (the fact that is has been growing for years without showing signs of invasion / spreading) wasn't suggesting a malignant tumour. Therefor the choice of limiting the immunohistochemical analysis to the ones performed.
