Abstract:
Xeroderma pigmentosum (XP) is a hereditary photosensitive disease in
which skin cancers frequently develop in sun-exposed areas. Several
reports on the use of immune checkpoint inhibitor (ICI) therapy in
patients with difficult-to-treat XP indicate that ICIs have the
potential to improve survival outcomes in these patients. This report
describes a Japanese man with XP and multiple systemic metastases of
carcinoma in whom ICI therapy achieved a favorable outcome. He was
diagnosed with XP at the age of about 30 years. Unresectable distant
metastases appeared, despite numerous cryotherapy and excisional
procedures for recurrent skin tumors. Irinotecan, 5-fluorouracil,
carboplatin, and cetuximab were ineffective. Finally, he was treated
with nivolumab, which had a marked therapeutic effect. A literature
review revealed 10 cases of XP-related cancer that had responded well to
ICI. ICI therapy may be an effective tool in patients with XP and
unresectable malignant lesions.