RESUMO
NUTM1 gene rearrangement is the genetic hallmark of NUT carcinoma, an aggressive tumor that most commonly affects the thoracic and head and neck regions and often exhibits squamous differentiation. The most common fusion partner gene is BRD4, followed by BRD3 and NSD3. Recently, NUTM1 gene rearrangement has been identified in rare tumors from soft tissues, intracranial locations, and other visceral organs. These tumors often show high grade malignant epithelioid to round cell histomorphology and lack evidence of squamous and/or epithelial differentiation. Therefore, their relationship with classic NUT carcinoma is still uncertain. Here, we present a primary mandible bone tumor of a 21-year-old female exhibiting monotonous epithelioid and rhabdoid cytomorphology, vesicular chromatin, and prominent nucleoli. The initial immunohistochemical workup was non-specific, showing only CD34 positivity while being negative for cytokeratin (AE1/AE3), EMA, p63, etc. INI-1 expression was retained. RNA sequencing was performed and identified a rare ZNF532-NUTM1 gene fusion, which had only been reported in a single case of pulmonary NUT carcinoma. The fusion was confirmed by FISH for NUTM1 gene rearrangement and supported by diffuse and strong NUT immunoreactivity. MYC mRNA up-regulation and immunoreactivity, a common finding in NUT carcinoma, was also observed in this tumor, suggesting a possible common pathogenetic mechanism and potential treatment target. The patient presented with a non-metastatic disease status and received hemimandibulectomy, selective neck dissection (level Ib), and post-operative radiation therapy. She remained disease free 3.6 years after the initial diagnosis.
Assuntos
Proteínas de Neoplasias/genética , Proteínas Nucleares/genética , Tumor Rabdoide/genética , Biomarcadores Tumorais/genética , Neoplasias Ósseas/genética , Carcinoma/genética , Proteínas de Ciclo Celular/genética , Feminino , Fusão Gênica/genética , Rearranjo Gênico , Humanos , Hibridização in Situ Fluorescente , Mandíbula , Proteínas de Fusão Oncogênica/genética , Sarcoma/genética , Análise de Sequência de RNA , Fatores de Transcrição/genética , Adulto Jovem , Dedos de Zinco/genéticaRESUMO
Despite numerous investigations of the prevalence effect on medical image perception, little research has been done to examine the effect of expertise, and its possible interaction with prevalence. In this study, medical practitioners were instructed to detect the presence of hip fracture in 50 X-ray images with either high prevalence (Nsignal = 40) or low prevalence (Nsignal = 10). Results showed that compared to novices (e.g., pediatricians, dentists, neurologists), the manipulation of prevalence shifted participant's criteria in a different direction for experts who perform hip fracture diagnosis on a daily basis. That is, when prevalence rate is low (pfracture-present = 0.2), experts held more conservative criteria in answering "fracture-present," whereas novices were more likely to believe there was fracture. Importantly, participants' detection discriminability did not vary by the prevalence condition. In addition, all participants were more conservative with "fracture-present" responses when task difficulty increased. We suspect the apparent opposite criteria shift between experts and novices may have come from medical training that made novices to believe that a miss would result in larger cost compared to false positive, or because they failed to update their prior belief about the signal prevalence in the task, both would suggest that novices and experts may have different beliefs in placing the optimal strategy in the hip fracture diagnosis. Our work can contribute to medical education training as well as other applied clinical diagnosis that aims to mitigate the prevalence effect.