Ossifying low grade endometrial stromal sarcoma with PHF1-BRD8 fusion
Autor: | Hsuan Ying Huang, Ming Yi Chung, Paul Chih-Hsueh Chen, Chin Chen Pan |
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Rok vydání: | 2021 |
Předmět: |
Cancer Research
Pathology medicine.medical_specialty Lineage (genetic) Oncogene Proteins Fusion Biology Low Grade Endometrial Stromal Sarcoma 03 medical and health sciences 0302 clinical medicine Stroma Osteogenesis Genetics medicine Humans Molecular Biology Gene Endometrial stromal sarcoma Base Sequence Staining and Labeling Ossification Mesenchymal stem cell Proto-Oncogene Proteins c-mdm2 Sarcoma Middle Aged medicine.disease Endometrial Neoplasms Fusion transcript 030220 oncology & carcinogenesis Female Neoplasm Grading Stromal Cells medicine.symptom Transcriptome |
Zdroj: | Cancer Genetics. :81-85 |
ISSN: | 2210-7762 |
Popis: | Low-grade endometrial stromal sarcoma and ossifying fibromyxoid tumors are two types of mesenchymal tumors that share no similarities in terms of site, sex, and morphological characteristics. They are rare, low grade tumors of uncertain lineage, with no definite immunological markers. Interestingly, a common PHF1 gene- related rearrangement was observed in these two tumors. Here, we report a case of endometrial stromal sarcoma with distinct ossification. Microscopically, the tumor is composed of bland-looking ovoid cells with low cellularity in the fibromyxoid stroma. Foci of metaplastic bone formation were noted. Using a combination of FISH, transcriptome sequencing, and molecular techniques, we identified a new PHF1-BRD8 fusion transcript, which was previously described, but in its reciprocal fusion form. This case expands the current understanding of low-grade endometrial stromal sarcoma and emphasizes the importance of molecular characterization of unique fusion, which may be related to its distinct morphological features and the possibly chemosensitive target. |
Databáze: | OpenAIRE |
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