Primary small cell carcinoma of the pleura: a case report with immunohistochemical and molecular genetic analyses of KIT and PDGFRA genes

An extremely rare case of primary small cell carcinoma of the pleura with an emphasis on KIT and platelet-derived growth factor receptor-α (PDGFRA) genes is reported here. A 67-year-old man underwent left testicular orchiectomy because of a testicular tumor. The tumor was immunohistochemically shown to be diffuse large B-cell lymphoma. The patient was treated with chemotherapy and radiation and followed up in our hospital. Eight years after the orchiectomy, the patient (75 years old) developed left pleural tumor and pleural effusion, and a biopsy was performed. The biopsy revealed a medullary malignant tumor consisting of small round and spindle cells. The following three possibilities were considered: recurrent lymphoma, mesothelioma, and small cell carcinoma. Immunohistochemically, the tumor cells were positive for cytokeratin, synaptophysin, CD56, KIT, and PDGFRA, but negative for CEA, cytokeratin 5/6, neuron-specific enolase, chromogranin, CD45, CD3, CD20, CD45RO, CD15, CD30, calretinin, WT-1, B72.3, D2-40, and TTF-1. Therefore, a diagnosis of pleural small cell carcinoma was made. A molecular genetic analysis using PCR-direct sequencing identified no mutations of KIT (exons 9, 11, 13, and 17) and PDGFRA (exons 12 and 18) genes. The patient was treated with chemotherapy (cisplatin) and radiation (50 Gray). The present case is the first reported case of primary small cell carcinoma of the pleura with an examination of KIT and PDGFRA expressions and KIT and PDGFRA gene mutations.