Szablewski Vanessa, Laurent-Roussel Sara, Rethers Luc, Rommel Antoine, Van Eeckhout Pascal, Camboni Alessandra, Willocz Pascal, Copie-Bergman Christiane, Ortonne Nicolas
Departement de Pathologie, CHU Montpellier, Hôpital Gui De Chauliac, Montpellier, France.
J Cutan Pathol. 2014 Sep;41(9):715-9. doi: 10.1111/cup.12352. Epub 2014 Jun 25.
We report the case of a two patients who presented with a solitary, asymptomatic, angiomatoid nodule on the right thigh. Histopathological finding showed a poorly circumscribed lesion, located in the dermis. The morphological aspect strongly suggested the diagnosis of atypical fibrous histiocytoma (AFH), but surprisingly, the neoplastic cells were diffusely CD30+, with a membrane staining devoid of paranuclear dot. The lesions were tested for p80/ALK1 expression. Surprisingly, we found a diffuse cytoplasmic positivity. Interestingly, using break-apart fluorescent in situ hybridization (FISH), we evidenced an ALK rearrangement in nearly 50% of the neoplastic cells. The expression of CD30 and ALK1 with ALK gene rearrangement raised the possibility of three diagnoses: a primary cutaneous anaplastic large cell lymphoma (ALCL), a cutaneous inflammatory myofibroblastic tumor (IMT), an AFH of the skin associated with ALK gene rearrangement and CD30 positivity. The three hypotheses were discussed and finally, although p80/ALK1 expression and cytogenetic abnormalities in fibrous histiocytoma (FH) are not yet reported to the best of our knowledge, we favored the diagnosis of AFH.
我们报告了两例患者的病例，他们右大腿出现一个孤立、无症状的血管瘤样结节。组织病理学检查发现病变边界不清，位于真皮层。形态学表现强烈提示非典型纤维组织细胞瘤（AFH）的诊断，但令人惊讶的是，肿瘤细胞弥漫性CD30阳性，膜染色无核旁点。对病变进行了p80/ALK1表达检测。令人惊讶的是，我们发现弥漫性胞质阳性。有趣的是，使用断裂分离荧光原位杂交（FISH），我们在近50%的肿瘤细胞中证实了ALK重排。CD30和ALK1的表达以及ALK基因重排提出了三种诊断可能性：原发性皮肤间变性大细胞淋巴瘤（ALCL）、皮肤炎性肌成纤维细胞瘤（IMT）、与ALK基因重排和CD30阳性相关的皮肤AFH。对这三种假设进行了讨论，最后，尽管据我们所知纤维组织细胞瘤（FH）中p80/ALK1表达和细胞遗传学异常尚未见报道，但我们倾向于AFH的诊断。
