Posterior pharyngeal wall squamous cell carcinoma arising in a patient with dyskeratosis congenita

Abstract

Dyskeratosis congenita is a rare condition; however, it is vital to recognise the increased risk of upper aerodigestive tract cancers in these patients. Management of such cancers can be particularly difficult in view of the need to avoid DNA-damaging therapies such as radiotherapy.

Dyskeratosis Congenita and Squamous Cell Cancer of the Head and Neck: A Case Report and Systematic Review

“…We found a total of 12 other case reports of patients with DC and SCC of the head and neck, excluding cutaneous malignancies. [5][6][7][8][9][10][11][12][13][14][15][16] To our knowledge, this is the largest systematic review of this patient population. Of note, most of the cases involved SCC of the tongue; this is the only case that reports on sequential osteocutaneous free tissue transfers.…”

“…Other case reports have also highlighted that oncologists in multi-disciplinary discussions have recommended surgical treatment as first-line due to these concerns. 13,15 If malignancy is present, we would also advocate for wide surgical margins for DC patients. It does appear that their cancers are more aggressive based off the other reported cases, as well as our own experience.…”

“…At baseline, DC patients are at high risk for developing bone marrow failure, hence conventional DNA-damaging therapies may accelerate bone marrow failure or cause severe mucositis due to impaired mucosal lining repair. 13 Managing these patients should involve discussion with the patients about each treatment option and potential side effects. Patients with DC can have pancytopenia from bone marrow failure, which would also predispose them to complications when considering chemotherapy.…”

“…Other case reports have also highlighted that oncologists in multi-disciplinary discussions have recommended surgical treatment as first-line due to these concerns. 13 , 15 …”