Dong Hyu Cho

Aggressive angiomyxoma of the vagina: A case report and literature review

Rationale: Aggressive angiomyxoma (AAM) is an exceptionally rare mesenchymal tumor that predominantly manifests in the female genital organs during the reproductive age. Its rarity alone makes it a fascinating subject for study. The diagnosis of AAM necessitates differentiation from other benign or mesenchymal tumors and can be confirmed through immunohistochemistry (IHC) staining. Surgical resection is the primary treatment, and adjuvant treatment can be used as hormonal therapy with gonadotropin-releasing hormone agonists, selective estrogen receptor modulators, and aromatase inhibitors. Patient concerns: A 44-year-old premenopausal Korean woman presented with a growing perineal mass and frequent urination. Diagnoses: Histopathological findings confirmed AAM, with IHC staining showing estrogen receptor, progesterone receptor, actin and desmin positivity, and CD34 and S100 negativity. Interventions: The mass was excised transvaginally under general anesthesia. Outcomes: The patient showed no signs of recurrence 6 months postoperatively. Lessons: AAM in the vagina is a rare tumor that requires differential diagnosis using IHC staining. Previously, we reviewed reported cases and confirmed the feasibility and effectiveness of surgery as the main treatment. This might reassure us about the potential successful treatment of AAM. Adjuvant hormonal therapy with gonadotropin-releasing hormone agonists, selective estrogen receptor modulators, and aromatase inhibitors can further reduce the risk of recurrence.

Efficient mutation screening for cervical cancers from circulating tumor DNA in blood

Abstract Background Early diagnosis and continuous monitoring are necessary for an efficient management of cervical cancers (CC). Liquid biopsy, such as detecting circulating tumor DNA (ctDNA) from blood, is a simple, non-invasive method for testing and monitoring cancer markers. However, tumor-specific alterations in ctDNA have not been extensively investigated or compared to other circulating biomarkers in the diagnosis and monitoring of the CC. Therfore, Next-generation sequencing (NGS) analysis with blood samples can be a new approach for highly accurate diagnosis and monitoring of the CC. Method Using a bioinformatics approach, we designed a panel of 24 genes associated with CC to detect and characterize patterns of somatic single-nucleotide variations, indels, and copy number variations. Our NGS CC panel covers most of the genes in The Cancer Genome Atlas (TCGA) as well as additional cancer driver and tumor suppressor genes. We profiled the variants in ctDNA from 24 CC patients who were being treated with systemic chemotherapy and local radiotherapy at the Jeonbuk National University Hospital, Korea. Result Eighteen out of 24 genes in our NGS CC panel had mutations across the 24 CC patients, including somatic alterations of mutated genes (ZFHX3–83%, KMT2C-79%, KMT2D-79%, NSD1–67%, ATM-38% and RNF213–27%). We demonstrated that the RNF213 mutation could be used potentially used as a monitoring marker for response to chemo- and radiotherapy. Conclusion We developed our NGS CC panel and demostrated that our NGS panel can be useful for the diagnosis and monitoring of the CC, since the panel detected the common somatic variations in CC patients and we observed how these genetic variations change according to the treatment pattern of the patient.