伴骨性或软骨样分化的黑色素瘤：8 例报告，包括 SATB2 表达和突变分析

Melanoma can present with osteocartilaginous differentiation, however few reports exist on this rare subtype.

We present eight cases of melanoma with osteocartilaginous differentiation to highlight its clinical, pathological and molecular features. The cases showed no association with gender (5 males and 3 females) or age (range 23-84 years). Cases included both primary melanomas and distant metastases (6 and 2, respectively), with the majority arising from cutaneous sites (7/8) and the remaining case from a mucosal site.

Tumour-infiltrating lymphocyte (TIL) score ranged from 0 to 3 (median 1), and 2/8 lesions had evidence of inflammatory changes or antecedent trauma. No recurrent mutations were found in the tumours by next generation sequencing, and the mutations observed were typical of melanoma rather than osteosarcomatous lesions. The majority of tumours stained positive for melanoma markers including S100, HMB45, Melan-A, SOX10 and MITF. Staining of the osteoblastic marker SATB2 varied from negative to widespread positive.

We demonstrate that melanomas with osteocartilaginous differentiation are heterogeneous in presentation and are not typified by a recurrent mutation in cancer associated genes. Where uncertainty exists in diagnosing an osteocartilaginous lesion, a diagnosis of melanoma can be supported by the presence of genomic mutations typical of melanoma such as BRAF, NRAS and NF1, and IHC staining positive for S100, HMB45, Melan-A, SOX10 and MITF. SATB2 may be positive in these lesions and thus should not be used to rule out melanoma.