A case of pulmonary metastasis from dermatofibrosarcoma protuberans of fibrosarcomatous variant diagnosed by molecular detection of COL1A1-PDGFB fusion gene transcripts

Making a differential diagnosis based on morphological findings of a pulmonary tumor consisting of spindle cells is often difficult. We encountered a case of lung metastasis from dermatofibrosarcoma protuberans (DFSP) of fibrosarcomatous variant, confirmed by molecular testing. A 45-year-old man was...

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Published inNihon Kokyuki Geka Gakkai zasshi (Kyoto, 1992) Vol. 28; no. 6; pp. 764 - 770
Main Authors Kobayashi, Nobutaka, Numanami, Hiroki, Yamaji, Masayuki, Tanaka, Motoya, Kitamura, Junko, Haniuda, Masayuki
Format Journal Article
LanguageEnglish
Published The Japanese Association for Chest Surgery 15.09.2014
Subjects
COL1A1-PDGFB fusion gene
Dermatofibrosarcoma protuberans (DFSP)
fibrosarcoma
Imatinib Mesilate
lung metastasis
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Summary:Making a differential diagnosis based on morphological findings of a pulmonary tumor consisting of spindle cells is often difficult. We encountered a case of lung metastasis from dermatofibrosarcoma protuberans (DFSP) of fibrosarcomatous variant, confirmed by molecular testing. A 45-year-old man was found to have a distinct 18-mm nodule in the left superior lingular segment by computed tomography. At the age of 39, he underwent total excision of a subcutaneous mass in the forehead at another hospital; the diagnosis was DFSP of fibrosarcomatous variant. Because malignancy could not be ruled out this time, thoracoscopic partial resection of the left upper lung was performed. A histopathological study of the specimen showed fibrosarcomatous features. Immunohistochemically, the tumor cells were positive for CD34 and vimentine, and negative for cytokeratin AE1/AE3. Although those features suggested metastasis, the differential diagnosis was inconclusive in the absence of a storiform pattern indicating DFSP component. To confirm the diagnosis, molecular studies were performed on the fixed tumor, which revealed the presence of the fusion product of the COL1A1-PDGFB genes characteristic of DFSP. Genetic testing proved to be a useful tool for diagnosing DFSP of fibrosarcomatous variant, particularly in metastatic lesions solely with fibrosarcomatous component.
ISSN:0919-0945
1881-4158
DOI:10.2995/jacsurg.28.764