Sudden unexpected death in a 17-year-old boy due to unacknowledged adamantinoma-like Ewing sarcoma

被引:1
作者
Pigaiani, N. [1 ]
Ausania, F. [1 ]
Tudini, M.
Bortolotti, F. [1 ]
Tagliaro, F. [1 ]
Brunelli, M. [2 ]
机构
[1] Univ Verona, Dept Diagnost & Publ Hlth, Unit Forens Med, Piazzale LA Scuro 10, I-37134 Verona, Italy
[2] Univ Verona, Dept Diagnost & Publ Hlth, Unit Pathol, Piazzale LA Scuro 10, I-37134 Verona, Italy
关键词
Adamantinoma-like Ewing sarcoma; Sudden unexpected death; Airway occlusion; Forensic pathology; HEMORRHAGE; TUMORS;
D O I
10.1007/s12024-022-00525-x
中图分类号
DF [法律]; D9 [法律]; R [医药、卫生];
学科分类号
0301 ; 10 ;
摘要
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.
引用
收藏
页码:549 / 553
页数:5
相关论文
共 23 条
[11]   Sudden unexpected death due to inflammatory myofibroblastic tumor of the heart: a case report and review of the literature [J].
Li, Ling ;
Burke, Allen ;
He, Jie ;
Chang, Lin ;
Zielke, H. Ronald ;
Fowler, David R. .
INTERNATIONAL JOURNAL OF LEGAL MEDICINE, 2011, 125 (01) :81-85
[12]   Molecular Diagnosis of Ewing Sarcoma Family of Tumors A Comparative Analysis of 560 Cases With FISH and RT-PCR [J].
Machado, Isidro ;
Noguera, Rosa ;
Pellin, Antonio ;
Lopez-Guerrero, Jose A. ;
Piqueras, Marta ;
Navarro, Samuel ;
Llombart-Bosch, Antonio .
DIAGNOSTIC MOLECULAR PATHOLOGY, 2009, 18 (04) :189-199
[13]   Adamantinoma-Like Ewing Sarcoma of the Thyroid: A Case Report and Review of the Literature [J].
Morlote, Diana ;
Harada, Shuko ;
Lindeman, Brenessa ;
Stevens, Todd M. .
HEAD & NECK PATHOLOGY, 2019, 13 (04) :618-623
[14]  
NORMAN M G, 1990, Pediatric Pathology, V10, P769
[15]   Sudden death in an adolescent due to undiagnosed classic Hodgkin lymphoma [J].
Ogunbona, Oluwaseun B. ;
Heninger, Michael ;
Bradley, Kyle ;
Geller, Rachel .
JOURNAL OF FORENSIC SCIENCES, 2022, 67 (01) :387-390
[16]   SUDDEN-DEATH DUE TO MASSIVE INTRAVENTRICULAR HEMORRHAGE INTO AN UNSUSPECTED EPENDYMOMA [J].
POON, TP ;
SOLIS, OG .
SURGICAL NEUROLOGY, 1985, 24 (01) :63-66
[17]   Unexpected death in two young infants mimics SIDS - Autopsies demonstrate tumors of medulla and heart [J].
Rajs, J ;
Rasten-Almqvist, P ;
Nennesmo, I .
AMERICAN JOURNAL OF FORENSIC MEDICINE AND PATHOLOGY, 1997, 18 (04) :384-390
[18]   Soft Tissue Special Issue: Adamantinoma-Like Ewing Sarcoma of the Head and Neck: A Practical Review of a Challenging Emerging Entity [J].
Rooper, Lisa M. ;
Bishop, Justin A. .
HEAD & NECK PATHOLOGY, 2020, 14 (01) :59-69
[19]   Sequencing Overview of Ewing Sarcoma: A Journey across Genomic, Epigenomic and Transcriptomic Landscapes [J].
Sand, Laurens G. L. ;
Szuhai, Karoly ;
Hogendoorn, Pancras C. W. .
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2015, 16 (07) :16176-16215
[20]   SUDDEN UNEXPECTED NATURAL DEATH IN YOUNG PERSONS [J].
SIBONI, A ;
SIMONSEN, J .
FORENSIC SCIENCE INTERNATIONAL, 1986, 31 (03) :159-166