NTRK3-EML4-rearranged spindle cell tumor with co-expression of S100 and CD34: an unusual mesenchymal tumor in the spectrum of the bland-looking spindle cell lesions of the oral cavity.

A novel category of spindle cell tumors characterized by Neurotrophic Tyrosine Receptor Kinase (NTRK) rearrangements with a dual immunoreactivity for S-100 and CD34 has emerged in the last years as a distinct entity among soft tissue neoplasms. These genetic alterations lead to the continuous activation of NTRK genes, driving tumorigenesis and offering a unique prospect for targeted therapy. We herein present a rare case of NTRK3-rearranged spindle cell tumor with a hitherto unreported gene fusion involving the exon 14 of NTRK3 with the exon 2 of Echinoderm Microtubule-Associated Protein-Like 4, arising in the head and neck region. Tumor occurred in a 45-year-old patient who presented with a painful nodule in the oral mucosa. Due to the possibility of personalizing the treatment strategy for such tumors, pathologists should be aware of this emerging group of spindle cell tumors to promptly recognize them even when they occur in uncommon locations, including the oral cavity.

Hereditary coagulation factor XI deficiency: a rare or neglected disease? Results from a retrospective, single-centre cohort in northern Italy.

To examine real-life clinical data regarding hereditary factor XI (FXI) deficiency from a secondary care centre. Retrospective review of clinical records for every FXI:C 0.7 IU/ml or less reported from 2012 to 2020. Seventy-nine patients were included. Six (7.6%) had a severe deficiency (FXI:C <0.2 IU/ml). Only 55 (69.6%) patients were referred to the Haemostasis Centre. Among them, six (15%) were subsequently not identified at increased haemorrhagic risk before a surgical/obstetrical procedure. Thirty-three (41.8%) experienced at least one bleeding event, minor (25 patients) and/or major (16 patients). Minor bleedings were predominantly spontaneous and more frequent in women, major events were mainly provoked. No correlation was found between FXI:C and risk of bleeding ( P  = 0.9153). Lower FXI:C, but not a positive bleeding history, was related with higher likelihood of being referred to the Haemostasis Centre ( P  = 0.0333). Hereditary FXI deficiency prevalence is likely underestimated, real-life clinical practices outside reference centres could be suboptimal.

Vocal Cord Hemangioma: A Common Tumor in an Unusual Localization. A Case Report with Short Review of Literature.

Laryngeal adult-type hemangiomas are very rare lesions, more frequent in men, whose optimal treatment consists of microlaryngoscopical excision. We herein report a case of larynx cavernous hemangioma in a 64-year-old woman with hoarseness for about six months. Histologically, the tumor was composed of multiple vessels embedded in an edematous stroma.