Key result
An initial misdiagnosis or incomplete diagnosis occurred in 22.7% of desmoplastic small round cell tumor cases and 6.4% of Ewing sarcoma/Ewing-like sarcoma cases.
Why the study?
Ewing sarcoma, Ewing-like sarcoma, and desmoplastic small round cell tumors can masquerade as other tumor types and lead to inappropriate treatment.
What are the common diagnostic pitfalls and rates of misdiagnosis for Ewing sarcoma and desmoplastic small round cell tumors?
Observational (n=115)
No
What are the common diagnostic pitfalls and rates of misdiagnosis for Ewing sarcoma and desmoplastic small round cell tumors?
Misdiagnosis of Ewing sarcoma and DSRCT, often as neuroendocrine carcinoma due to marker expression, can lead to inappropriate chemotherapy and poor patient outcomes.
Answers are grounded in this paper and cite their sources.
Signals diagnostic pitfalls risking inappropriate therapy; leaves open refined criteria via prospective molecular studies.
Ewing sarcoma (ES), "Ewing-like sarcoma" (ELS) and desmoplastic small round cell tumors (DSRCT) can masquerade as other tumor types, particularly neuroendocrine neoplasms and receive inappropriate treatment. We retrieved 115 cases of ES, ELS and DSRCT seen over 17 years in a tertiary center. An initial misdiagnosis or incomplete diagnosis occurred in 6/93 (6.4%) of ES/ELS and 5/22 (22.7%) of DSRCT cases. The most frequent misdiagnosis was small cell neuroendocrine carcinoma. While any misdiagnosis or incomplete classification is almost certainly multifactorial, the most common identified reason for erroneous/incomplete initial reporting was expression of neuroendocrine markers. Other contributing factors included keratin expression, older patient age and apparently unusual tumor location. Most patients treated with a non-sarcoma chemotherapy regimen expired, while those who received a sarcoma-related regimen were alive as of last evaluation. Increased awareness of this diagnostic pitfall is needed in evaluating cases of round cell malignancies.
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Trikalinos et al. (2021) conducted an observational in Ewing sarcoma, Ewing-like sarcoma, and desmoplastic small round cell tumors (n=115). Tumor type (Desmoplastic small round cell tumors vs Ewing sarcoma/Ewing-like sarcoma) vs. Ewing sarcoma/Ewing-like sarcoma was evaluated on Initial misdiagnosis or incomplete diagnosis. An initial misdiagnosis or incomplete diagnosis occurred in 22.7% of desmoplastic small round cell tumor cases and 6.4% of Ewing sarcoma/Ewing-like sarcoma cases.
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