Table 1 Clinical profiles of the patients.
Patient’s code | P1 | P2 | P3 | P4 |
|---|---|---|---|---|
ID | XP2003VI | XP2004VI | XP694VI | XP2020VI |
XPC gene mutation | V548fs | V548fs | V548fs | V548fs/E284X |
Age of XP diagnosis (years old) | 1 | 1 | 3 | 2 |
Origin of patient’s families | Algeria | Algeria | Algeria | Tunisia |
Skin cancers | No | No | A few carcinomas | No |
Other cutaneous manifestations | Actinic keratosis, freckles on the face | Actinic keratosis, freckles on the face | Ephelides, freckles on the exposed body sites | Melanocytic hyperplasia |
Gynecologycal tumors (age, years) | vERMS (16) | vERMS (16) | J-GCT of the left ovary (19) and poorly differentiated stage IA SLCT on the right ovary (19) | Poor differentiated Sertoli-Leydig cell tumor with heterologous component and retiform pattern of the left ovary - FIGO stage IC1 (11) |
Treatment | 5 cycles of Ifosamide-Vincristine-Actinomycin (IVA) followed by 4 cycles of Vincristine-Actinomycin. Brachytherapy (24 Gy) | 5 cycles of Ifosamide-Vincristine-Actinomycin (IVA) followed by 4 cycles of Vincristine-Actinomycin. Brachytherapy (24 Gy) | Adnexectomy | Left adnexectomy - No adjuvant chemotherapy contrary to recommendations due to the high risk of toxicity of cisplatinum in XP patients |
Treatment response | Complete response | Complete response for the vERMS | SLCT: complete response; J-GCT: recurrence 9 months later treated by colorectal resection and paclitaxel carboplatin; progression after 4 cycles chemo; | Complete response |
Total follow-up after gynecological cancer treatment | 11 years | 6 years | 9 months | 32 months |
Other internal cancers | No | AML-2 at 20 years of age Treatment by Adriamycin and Azacitidine | No | No |
Status in 2023 | Alive | Death at 22 years of age due to AML-2 | Alive | Alive |
