Epithelioid cell histiocytoma with SQSTM1-ALK fusion: a case report

作者：Nakayama Ryuko; Togashi Yuki; Baba Satoko; Kaku Yo; Teramoto Yuki; Sakurai Takaki; Haga Hironori^*; Takeuchi Kengo

来源：Diagnostic Pathology, 2018, 13(1): 28.

DOI：10.1186/s13000-018-0704-1

• Epithelioid cell histiocytoma
• Fibrous histiocytoma
• ALK gene rearrangement
• SQSTM1-ALK gene fusion

Background: Epithelioid cell histiocytoma (ECH), which is also known as epithelioid benign fibrous histiocytoma, has been classified as a rare variant of fibrous histiocytoma (FH). However, the recent detection of ALK protein expression and/or ALK gene rearrangement in ECH suggests that it might be biologically different from conventional FH.
Case presentation: A 27-year-old male presented with nodule on his left foot, which had been present for 5 years. A macroscopic examination revealed an exophytic, hyperkeratotic nodule on the dorsum of the left foot Tumorectomy was performed, and a microscopic examination showed a subepidermal lesion composed of sheets of tumor cells with oval to round nuclei and ill-defined eosinophilic cytoplasm. The tumor cells were diffusely positive for factor Xllla and ALK, but were negative for AE1/AE3 keratin, alpha-smooth muscle actin, CD30, CD34, CD68, PU.1, melan A, MITF, and S-100 protein. ALK immunostaining showed a diffuse cytoplasmic staining pattern. ALK fluorescence in situ hybridization demonstrated break-apart signals, which was suggestive of ALK rearrangement A 5'-rapid amplification of cDNA ends assay detected SQSTMI -ALK fusion, in which exon 5 of the SQSTM1 gene was fused to exon 20 of the ALK gene. The patient was free from recurrence and distant metastasis at the 1-year of follow-up.
Conclusion: We were able to demonstrate the SQSTM1-ALK fusion gene in ECH. Practically, detecting immunopositivity for ALK and appropriate cell-lineage markers are the key to diagnosing ECH.

• 出版日期2018-5-10