TY - JOUR
T1 - Common Pitfalls in Ewing Sarcoma and Desmoplastic Small Round Cell Tumor Diagnosis Seen in a Study of 115 Cases
AU - Trikalinos, Nikolaos A.
AU - Chrisinger, John S.A.
AU - Van Tine, Brian A.
PY - 2021/10/15
Y1 - 2021/10/15
N2 - 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.
AB - 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.
KW - desmoplastic small round cell tumor
KW - diagnostic errors
KW - Ewing
KW - neuroendocrine tumors
KW - sarcoma
UR - http://www.scopus.com/inward/record.url?scp=85130357831&partnerID=8YFLogxK
U2 - 10.3390/medsci9040062
DO - 10.3390/medsci9040062
M3 - Article
C2 - 34698236
AN - SCOPUS:85130357831
SN - 2076-3271
VL - 9
JO - Medical sciences (Basel, Switzerland)
JF - Medical sciences (Basel, Switzerland)
IS - 4
ER -