Title: Breast carcinoma in a patient with neurofibromatosis type 1 and huge plexiform
neurofibroma of the contralateral breast: A case report
Version: 1 Date: 30 Mar 2025
Reviewer:  Helen Trihia
Reviewer's report:
Dear Sirs, very interesting case. I would like to propose the following:
- Conserning the title I would change it as follows:  Breast carcinoma in a patient with NF1 and
huge plexiform neurofibroma of the contralateral breast. A case report
- In the Background (line 40) you write: 'huge plexiform neurofibroma of the right breast who
developed invasive carcinoma in the right breast' correct to left breast or contralateral breast
- In Case Presentation (line 42), you could omit the sentence 'The estrogen anad progesterone
receptors......negative'
(p. 46), correct 'adjuvant paclitaxel followed by anastrozole which was replaced by tamoxifen'.
(line 47), instead of 'Currently' better say 'One year later ...'. You can omit 'and is doing well'.
- In Conclusion (line 49): you can omit the first sentence (The report shows etc. You could
start saying that: it is known that women with NF1 have a substantial contralateral breast cancer
incidence, as in our case. These patients  could benefit from early start of breast cancer screening,
which could lead to early diagnosis of low stage tumors and better prognosis. Also better access
to health care centres and intense surveillance provided, could affect prognosis.
- In Introduction, I think we don't use references. In  line 70, you could add: breast enlargement
due to plexiform neurofibroma, ....in association with contralateral breast cancer. Line 83, do
you mean upper outer quadrant (?lateral). 'Left axillary node adenopathy, do you mean enlarged
lymph nodes? which size? Line 88, in cTN+, you can't classify N, before FNA or sentinel lymph
node biopsy, only  from radiography and before cytological or histological examination. Line
91, you can omit 'between August 20 and October 22, 2023'. Also, instead of November 20,
you could say 'Subsequently the patient underwent a left...'. Line 95, instead of 'but was then'
you could say which was replaced. Also you can omit 'on June 2024'. Line 98, you can also
omit the date, also instead of 'was seen' say 'was detected'. Line 107-109, I would comment
that presurgical neo-adjuvant chemotherapy has its indications and concerning the molecular
subtypes, are mostly used in HER2+ and triple negative carcinomas. Line 115, you can omit
'with positive estrogen and progesterone receptors, as it is well known that lobular carcinomas
are carcinomas with high ER and PR expression (hormone sensitive).
- You could comment on  the following: screening may well substantially improve survival
in women with NF1 and breast cancer and the inclusion of women with NF1 gene defects in
national high-risk screening protocols would be desirable. Better access to health care centres
and increased surveillance could affect prognosis.
- You could add some more recent articles in the references. I would also recommend: Breast
cancer in neurofibromatosis 1: a survival and risk of contralateral breast cancer in a five country
cohort study D. Gareth et al Genetics in Medicine vol 22, no 2, February 2020