CYTOLOGIC CHARACTERISTICS OF A MALIGNANT PROLIFERATING TRICHILEMMAL CYST

The proliferating trichilemmal cyst (PTC)is a tumor that originates from hair follicles. It is almost always benign, but rare lesions have been reported with malignant potential. In the present case, the patient had a mass on the right side of her neck for a few years, which suddenly increased in size. Cytologic examination revealed many atypical squamous cells staining well with orange G and light green, suggestive of a squamous cell carcinoma. Total extirpation was performed under general anesthesia, gross pathology revealing a focally cystic tumor approximately 5 cm in diameter. The final diagnosis was malignant PTC from the characteristic features. We here report cytologic findings for this case with regional lymph node metastasis

Analysis of Relationships between Immune Checkpoint and Methylase Gene Polymorphisms and Outcomes after Unrelated Bone Marrow Transplantation

Unrelated bone marrow transplantation (uBMT) is performed to treat blood disorders, and it uses bone marrow from an unrelated donor as the transplant source. Although the importance of HLA matching in uBMT has been established, that of other genetic factors, such as single-nucleotide polymorphisms (SNPs), remains unclear. The application of immunoinhibitory receptors as anticancer drugs has recently been attracting attention. This prompted us to examine the importance of immunoinhibitory receptor SNPs in uBMT. We retrospectively genotyped five single-nucleotide polymorphisms (SNPs) in the immune checkpoint genes, BTLA, PD-1, LAG3, and CTLA4, and two SNPs in the methylase genes, DNMT1 and EZH2, in 999 uBMT donor–recipient pairs coordinated through the Japan Marrow Donor Program matched at least at HLA-A, -B, and -DRB1. No correlations were observed between these SNPs and post-uBMT outcomes (p > 0.005). This result questions the usefulness of these immune checkpoint gene polymorphisms for predicting post-BMT outcomes. However, the recipient EZH2 histone methyltransferase gene SNP, which encodes the D185H substitution, exhibited a low p-value in regression analysis of grade 2–4 acute graft-versus-host disease (p = 0.010). Due to a low minor allele frequency, this SNP warrants further investigation in a larger-scale study