Histology and histopathology Vol.40,nº10 (2025)
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- PublicationOpen AccessGenomic features of bladder neuroendocrine carcinoma with composite histology(Universidad de Murcia, Departamento de Histología e Histopatología, 2025) Ohmoto Akihiro; Kitahama Keiichiro; Shigematsu Yasuyuki; Hayashi Naomi; Yonese Junji; Inamura Kentaro; Takahashi Shunji; Biología Celular e HistologíaNeuroendocrine carcinoma (NEC) is a rare and aggressive malignancy derived from multiple body parts, with the urogenital organs being the second-largest extrapulmonary sites. The detailed mechanism of bladder NEC pathogenesis remains unknown. We reviewed data from 23 patients diagnosed with NEC from urogenital organs (bladder and prostate) and conducted targeted sequencing of 523 cancer-related genes, focusing on bladder NEC. While 14 cases featured a pure NEC histology, the remaining nine cases included NEC histology mixed with other tumors, such as urothelial carcinoma (UC) or adenocarcinoma. Median overall survival in the entire cohort was 11.1 months, and survival curves were comparable between pure NEC and NEC of mixed appearance. Major mutations detected in the NEC component were in TP53 (38%), TERT promoter (31%), PIK3CA (25%), histone-modification genes (19%), and RB1 (19%). The BARD1 frameshift variant related to homologous recombination was also detected in one patient. More than half of the patients had a high total mutational burden (TMB; ≥10), including two with a TMB ≥45. Intriguingly, at least one identical gene variant in driver genes was detected between NEC and non-NEC (UC) components in the four bladder specimens analyzed. These results highlight the possibility of shared genetic background between bladder NEC and UC. Additionally, several cases harbored druggable gene alterations as presented by TMB-high. Our presentation of the histopathologi-cal and molecular features of NEC may help clarify the underlying mechanisms and contribute to efficient treatment of the disease
- PublicationOpen AccessLiquid biopsy of circulating tumor cells: From isolation, enrichment, and genome sequencing to clinical applications(Universidad de Murcia, Departamento de Histología e Histopatología, 2025) Tan Keqin; Zhu Hong; Ma Xuelei; Biología Celular e HistologíaCirculating tumor cells (CTCs), shed from primary tumors into the bloodstream, play a crucial role in metastasis and hold great potential in cancer diagnosis, prognosis, and treatment monitoring. Conventional CTC detection using epithelial biomarkers like epithelial cell adhesion molecule (EpCAM) for immunocapture overlooks mesenchymal-like CTCs with high metastatic potential, spurring the development of non-immunocapture technologies that use biophysical traits for enrichment. Innovations in microfluidic platforms and multi-parametric sorting improve isolation efficiency and address related challenges. Breakthroughs in single-cell genomic and transcriptomic sequencing enable in-depth molecular characterization of CTCs. Clinically, CTC enumeration and molecular profiling are emerging as real-time tools for assessing therapeutic response and predicting outcomes, especially in metastatic breast, prostate, and colorectal cancers. This review focuses on CTC isolation, enrichment techniques, their applications in different tumors, downstream analysis progress, and potential in precision medicine
- PublicationOpen AccessMolecular pathology of adenoid cystic carcinoma(Universidad de Murcia, Departamento de Histología e Histopatología, 2025) Wei Shuanzeng; Pei Jianming; Zhang Paul J.L.; Biología Celular e HistologíaAdenoid cystic carcinoma (ACC) is a slow-growing but locally aggressive salivary gland tumor. ACC is composed of ductal/tubular epithelial cells and basal/myoepithelial cells, which form cribriform, tubular, and solid growth patterns in variable combinations and dominance. ACC from different anatomic sites have similar morphological, molecular, and genetic changes. The key molecular alteration in ACC is chromosomal fusion/rearrangement/trans-location involving MYB or MYBL1, usually with NFIB as a fusion partner. In this review, we summarize the pathology and molecular alterations in ACC and their clinical significance
- PublicationOpen AccessPLEKHG2 and the PLEKHG family: Linking Rho family GTPases to neural development and disorders(Universidad de Murcia, Departamento de Histología e Histopatología, 2025) Sato Katsuya; Nishikawa Masashi; Nagata Koh-ichi; Ueda Hiroshi; Biología Celular e HistologíaRho family small GTPases (Rho GTPases) are key regulators of cellular morphology, primarily through their control of the actin cytoskeleton. They play crucial roles in various cellular processes, including cell division, adhesion, and migration. The activity of Rho GTPases is tightly regulated by specific guanine nucleotide exchange factors (GEFs), which facilitate the exchange of GDP for GTP, thereby activating the GTPases. In the human genome, RhoGEFs are categorized into two major families: the DOCK family, comprising 11 members characterized by dedicator of cytokinesis (DOCK) homology regions, and the Dbl family, consisting of 64 members that contain a diffuse B-cell lymphoma (Dbl) homology domain. This review focuses on the pleckstrin homology and RhoGEF domain containing G (PLEKHG) family within the Dbl family of RhoGEFs, which remains largely un-characterized. We summarize their structure and function, with a particular emphasis on PLEKHG2, discussing its regulatory mechanisms, interactions with various molecules, and its involvement in neural functions