一名没有既往病史的17岁男性在他死前2天因轻度呼吸困难被送往当地医院。心电图,胸部X线摄影术,血液分析没有异常.血氧饱和度99%,SARS-CoV-2鼻咽拭子检测呈阴性;因此,他没有处方就出院了。2天后,受试者在泳池派对上突然死亡。进行了法医尸检,分析了所有解剖区域。经过深入的宏观和微观评估后,完全排除了心脏原因;肺部和脑部分析显示无宏观病理。最后,检测到一个巨大的声门下固体块。发白的肿瘤显示出对甲状腺和邻近的深层软组织的侵袭性侵袭模式,并阻塞了气管。高倍显微镜显示小片,均匀细胞,细胞质很少;圆形核;小,点状核仁,CK8-18、AE1/AE3和CD99的免疫组化表达。使用FISH分析,分裂分子探针(EWSR1(22q12)Break-XL,Leica生物系统,Nussloch,德国)显示出明显的破碎的红色和绿色荧光染料,尤因肉瘤的诊断.肿瘤的特征是金刚烷胺瘤样尤因肉瘤,死亡机制被确定为气道阻塞。案件的罕见在于死亡的情况,它指出了由于心脏病突然意外死亡的可能性,但最终诊断出肿瘤原因和潜在机制。进行尸检的最佳方法仍然是完整的,广泛的,对器官和地区进行系统的宏观采样,然后进行组织病理学分析,除了在必要的情况下进行免疫组织化学和分子研究。事实上,当检测到肿瘤时,免疫组织化学和分子诊断等先进技术的应用是准确证明死亡的基础。
A 17-year-old male with no previous medical history was admitted 2 days before his death to a local hospital after mild dyspnea. Electrocardiography, chest radiography, and blood analysis revealed no abnormalities. Blood oxygen saturation was 99%, and SARS-CoV-2 nasopharyngeal swabs tested negative; thus, he was discharged without prescriptions. After 2 days, the subject died suddenly during a pool party. Forensic autopsy was performed analyzing all anatomical districts. Cardiac causes were fully excluded after deep macroscopic and microscopic evaluation; lung and brain analyses showed no macroscopic pathology. Finally, a large subglottic solid mass was detected. The whitish neoplasm showed an aggressive invasion pattern to the thyroid and adjacent deep soft tissues and occluded the trachea. High-power microscopy showed sheets of small, uniform cells with scant cytoplasm; round nuclei; and small, punctate nucleoli, with immunohistochemical expression of CK8-18, AE1/AE3, and CD99. Using FISH analysis, the break-apart molecular probes (EWSR1 (22q12) Break - XL, Leica Biosystem, Nussloch, Germany) showed distinct broken red and green fluorochromes, diagnostic of Ewing sarcoma. The neoplasm was characterized as adamantinoma-like Ewing sarcoma, and the mechanism of death was identified as airway obstruction. The rarity of the case resides in the circumstances of death, which pointed to the possibility of sudden unexpected death due to heart disease, but an oncological cause and the underlying mechanism were finally diagnosed. The best method to perform autopsies is still complete, extensive, and systematic macroscopic sampling of organs and districts followed by histopathological analysis, in addition to immunohistochemical and molecular investigations in those cases in which they are necessary. In fact, when neoplasms are detected, the application of advanced techniques such as immunohistochemistry and molecular diagnostics is fundamental to accurately certify death.