19 December 2018
: Case report
A Case of Undifferentiated Sarcoma in the Superior Vena Cava and Bilateral Cervical Veins
Challenging differential diagnosis, Rare disease, Educational Purpose (only if useful for a systematic review or synthesis)
Hiroshi Kobayashi1ABEFG*, Yuka Kobayashi2ABCD, Sho Yuasa3ABC, Masayuki Okabe3ABDG, Yuichi Yamada4BCDE, Yoshinao Oda4BCDE, Maria Debiec-Rychter5BCDE, Brian P. Rubin6ACDE, Toshimitsu Suzuki1ACDGDOI: 10.12659/AJCR.911659
Am J Case Rep 2018; 19:1507-1514
Abstract
BACKGROUND: Intimal sarcoma (IS) is a malignant mesenchymal tumor with predominantly intraluminal growth in large vessels and the heart. Due to the rarity of cases it often poses diagnostic problems in clinical and pathological settings. Although the classification of IS is still controversial, undifferentiated type of IS has recently been found to show immunohistochemical positivity with MDM2, CDK4, or PDGFRA and amplification of MDM2/CDK4 and PDGFRA.
CASE REPORT: The patient was a 76 years-old Japanese man who presented with superior vena cava (SVC) syndrome. CT identified a tumor or thrombi in the SVC, bilateral brachiocephalic, and jugular veins. The histology of the biopsy specimen revealed an undifferentiated tumor without immunohistochemical positivity for all antibodies available except vimentin and smooth muscle actin. He was treated conservatively and died of respiratory failure 2 months after presentation. At autopsy, the large veins were filled by a sausage-like tumor and the cut sections revealed hemorrhagic and necrotic tumor. The tumor cells were negative with MDM2, CDK4, and PDGFRA by immunohistochemistry. Amplification of MDM2 and PDGFRA was not identified by fluorescence in-situ hybridization.
CONCLUSIONS: We concluded that the case was an undifferentiated sarcoma (IS without any specific phenotype) arising in the SVC, bilateral brachiocephalic, and jugular veins. We propose a way of subtyping sarcomas with predominantly intraluminal growth in large vessels and the heart based on immunohistochemistry and amplification of MDM2 and PDGFRA. However, proper subtyping of these sarcomas requires further study.
Keywords: Blood Vessels, Hemangiosarcoma, Immunohistochemistry, In Situ Hybridization, Fluorescence, Jugular Veins, Vena Cava, Superior
In Press
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.946414
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.944665
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.946514
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.946456
Most Viewed Current Articles
21 Jun 2024 : Case report
90,010
DOI :10.12659/AJCR.944371
Am J Case Rep 2024; 25:e944371
07 Mar 2024 : Case report
50,284
DOI :10.12659/AJCR.943133
Am J Case Rep 2024; 25:e943133
20 Nov 2023 : Case report
25,908
DOI :10.12659/AJCR.941424
Am J Case Rep 2023; 24:e941424
18 Feb 2024 : Case report
22,715
DOI :10.12659/AJCR.943030
Am J Case Rep 2024; 25:e943030