Comprehensive next-generation sequencing reveals low-grade fibromyxoid sarcoma of the vulva missed by morphological diagnosis: a case report.

Low-grade fibromyxoid sarcoma (LGFMS) is a rare soft tissue tumor composed of bland spindled cells in a variably fibrous to myxoid stroma. Its occurrence in the vulva region is rare, and thus, it may not be always taken into account in the differential diagnosis. Here, we describe a 34-year-old woman presented with a right vulvar mass and underwent complete surgical excision. The final pathologic diagnosis revealed LGFMS of the vulva based on the morphological, immunophenotypic, and molecular genetic features. The patient has not experienced a local or metastatic recurrence after 9-month follow-up. Despite being rare, LGFMS of the vulva should be considered when making a diagnosis of vulvar lesions. We also report that the genetic testing by next-generation sequencing (NGS) represents a very useful tool for the differential diagnosis of LGFMS from its mimics. Moreover, we have reviewed the literature on LGFMS of the vulva and summarized the characteristics of the patients, providing assistance for the diagnosis of such patients. Most vulvovaginal LGFMS can be fully removed through surgery. However, ongoing monitoring over the long term is essential as local and/or distant spread can occur decades after the initial diagnosis.

Efficient Everolimus Treatment for Metastatic Castration Resistant Prostate Cancer with AKT1 Mutation: A Case Report.

Metastatic castration resistant prostate cancer (mCRPC), the advanced stage of prostate cancer (PCa), develops resistance to first line androgen deprivation therapy (ADT). Aberrant androgen receptor (AR) and PI3K-Akt-mTOR signaling pathway are responsible for the development and progression of mCRPC. We herein describe a case of a 64-year-old male mCRPC patient with somatic AKT1 and AR mutations. The patient, who had been heavily pretreated by ADT and AR inhibitors, showed stable disease progression when he received everolimus, an mTOR inhibitor. The PSA level dropped drastically from 1493.0 ng/mL to 237.6 ng/mL, after 3 months of treatment. The overall survival (OS) was 43 months, of which the progression-free survival (PFS) with everolimus treatment was 7 months. The administration of mTOR inhibitor, everolimus, could achieve good clinical responses along with prolonging PFS for mCRPC patients harboring AKT1 mutations. Technology in precision medicine, such as targeted next-generation sequencing (NGS) of cancer-relevant genes, has promising function in personalized therapy.