Malignant tenosynovial giant cell tumor with CDKN2A/B genomic alteration: a histological, immunohistochemical, and molecular study

Publication date: Available online 15 December 2016
Source:Human Pathology
Author(s): Borislav A. Alexiev, Yanki Tumer, Guang-Yu Yang
Diffuse-type tenosynovial giant cell tumor (D-T TSGCT) is regarded as a benign but locally aggressive neoplasm with significant recurrent potential. We report a case of malignant (D-T TSGCT with pleural metastases arising in the left knee in a 57-year-old male. The tumor demonstrated atypical features, including a solid infiltrative pattern with spindling of the tumor cells, nuclear pleomorphism with prominent nucleoli, and markedly increased mitotic activity (>20 mitoses/10 HPF). The immunoprofile demonstrated clusterin+, D2–40+, CD68+, p63+, MDM2+, p16- tumor. The next-generation sequencing based assay demonstrated loss of the CDKN2A/B gene. Pleural metastases with identical histologic and immunohistochemical features were identified two year later after primary tumor resection. To the best of our knowledge, this is the first reported case of D-T TSGCT with CDKN2A/B genomic alteration, MDM2 expression, and p16 loss. Clinicians and pathologists should be aware of the morphologic variability and the metastatic propensity of this entity.



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