Table 1.
Clinical, histopathologic, immunohistochemical, and genetic findings and outcome of the previously reported cases of xeroderma pigmentosum and associated angiosarcoma
| Variables | Present study | Won Jin Hong Study (1) |
Matthew T. Olson Study (8) |
J. LEAKE Study (20) |
|
|---|---|---|---|---|---|
| Gender | Male | Male | Female | Male | Female |
| Age at diagnosis (years) | 50 | 65 | 11 | 73 | 15 |
| Site of the Lesion | Ala of nose | Scalp | Oral cavity | Auricle | Scalp |
| Lesion characteristics | Erythematous ulcerated plaque | Two erythematous firm nodules | Fungating polypoid mass | Erythematous ulcerated plaque | Rapidly growing nodule |
| Complaints | Gradual growth | Progressive skin pigmentation, multiple lentiginous, xerosis | Recurrent lesion of the tongue | Bleeding lesion on the left auricle | Rapidly growing nodule |
| Ocular symptoms | No | NA | Cataracts (complete visual loss in the right eye and partial vision loss in the left eye) | NA | NA |
| Neurological symptoms | No | No | No | NA | NA |
| Past dermatologic history | Recurrent BCC, and SCC | BCC, Actinic keratosis |
BCC, Recurrent lesion of the tongue |
BCC, SCC Melanoma |
BCC, SCC |
| Family history of XP | No | No | NA | Yes (sibling) | NA |
| Parents’ consanguinity | No | No | NA | NA | No |
| Histopathologic findings | Irregularly shaped anastomosing vascular channels lined by atypical endothelial cells with a highly infiltrative architecture and poor demarcation Intratumoral foamy cell changes |
A proliferation of atypical endothelial cells with a network of anastomosing vessels, small vascular channels dissecting the collagen fibers | Rounded epithelioid cells with abundant eosinophilic cytoplasm, large vesicular nuclei, and prominent nucleoli. irregular anastomosing channels |
Atypical endothelial cells with markedly hyperchromatic pleomorphic nuclei in the dermis, forming an undifferentiated vascular structure |
Infiltrative
tumor, poorly differentiated, foci of plump endothelial cells lined anastomosing vascular channels, pleomorphic epithelioid and spindle-shaped cells with large nucleoli, phagocytosed hemosiderin pigment |
| Immunohistochemical stains panel | CD31: Positive CD34: Positive Ki67: Positive (10%) PanCK: Negative Melan A: Negative S100, CK7, CEA, CD68: Negative |
CD31: Positive HMB45: Negative HHV8: Negative |
CD31: Positive CD34: Positive HHV8: Negative AE1/AE3: Negative P63: Negative |
CD31: Positive CD34: Positive D2–40: Positive |
Von Willebrand: +
Ulexewropaeus agglutinin type 1: + JC 70: + QBEND: + |
| Gene | NA | POLH | NA | POLH | NA |
| Variant | NA | c.490G>T | NA | c.1066C>T | NA |
| Metastasis | No | No | NA | No | NA |
| Treatment | Excision with graft | Radiotherapy + excision |
Radiotherapy + excision |
Excision | Excision |
| Outcome | No recurrence for 2 years of follow-up | No recurrence for 4.5 years of follow-up | NA | No recurrence for 15 months of follow-up | Recurred locally within 5 weeks |
| Variables | Shilpi Sharma Study (7) |
D.Ludolph-hauser Study (21) |
Karkouche Study (22) |
Karkouche Study (22) |
Karkouche
Study (22) |
| Gender | Male | Female | Male | Female | Female |
| Age at diagnosis(years) | 25 | 13 | 18 | 21 | 27 |
| Lesion site | Scalp | Shin | Left sub palpebral | Right internal canthus | Parotid gland |
| Lesion characteristics | Non-healing bleeding ulcer with irregular, rolled-out edges | NA | NA | NA | NA |
| Complaints | Non-healing bleeding ulcer | A lesion on the right shin | A lesion on sub palpebral | A lesion on the internal canthus | |
| Ocular symptoms | No | NA | NA | NA | NA |
| Neurological symptoms | No | NA | NA | NA | NA |
| Past dermatologic history | SCC, Myoepithelial carcinoma of the dermis, benign skin adnexal tumor of hair follicle differentiation | SCC, BCC, Actinic keratosis, Hemangiomas | BCC, actinic keratosis | BCC | NA |
| Family history of XP | Yes (2nd- and 3rd-degree relatives) | NA | NA | NA | NA |
| Parents’ consanguinity | No | First cousin | NA | NA | NA |
| Histopathologic findings |
Disordered proliferation of atypical endothelial cells with hyperchromatic markedly pleomorphic nuclei and eosinophilic cytoplasm. Small vascular channels with red blood cells were seen lined by similar cells dissecting through the dermis and around the adnexal structure |
Deep infiltrate of pleomorphous tumor cells | A vascular proliferation, with a network of anastomosing vessels lined by atypical endothelial cells | NA | NA |
| Immunohistochemical stains panel | CD31: Positive CD34: Positive Cytokeratin: Negative |
CD31: Positive Factor VIII: Positive |
CD31: Positive CD34: Positive |
NA | NA |
| Gene | NA | NA | NA | NA | NA |
| Variant | NA | NA | NA | NA | NA |
| Metastasis | No | NA | NA | NA | NA |
| Treatment | Radiotherapy | Excision | Excision | Incomplete excision | Complete resection |
| Outcome | NA | NA | No sign of recurrence after 19 months |
Recurred after 11 months | No sign of recurrence after 27 months |