Extraskeletal Myxoid Chondrosarcoma with Molecularly Confirmed Diagnosis: A Multicenter Retrospective Study Within the Italian Sarcoma Group View Full Text


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Article Info

DATE

2020-06-22

AUTHORS

Anna Paioli, Silvia Stacchiotti, Domenico Campanacci, Emanuela Palmerini, Anna Maria Frezza, Alessandra Longhi, Stefano Radaelli, Davide Maria Donati, Giovanni Beltrami, Giuseppe Bianchi, Marta Barisella, Alberto Righi, Stefania Benini, Marco Fiore, Piero Picci, Alessandro Gronchi

ABSTRACT

BackgroundExtraskeletal myxoid chondrosarcoma (EMC) is a rare sarcoma of uncertain origin, marked by specific chromosomal translocations involving the NR4A3 gene, and usually characterized by an indolent course. Surgery (with or without radiotherapy) is the treatment of choice in localized disease. The treatment for advanced disease remains uncertain. In order to better evaluate prognostic factors and outcome, a retrospective pooled analysis of patients with EMC treated at three Italian Sarcoma Group (ISG) referral centers was carried out.MethodsAll patients with localized EMC surgically treated from 1989 to 2016 were identified. Diagnosis was centrally reviewed according to WHO 2013. Only patients with NR4A3 rearrangement were included.ResultsSixty-seven patients were identified: 13 (20%) female, 54 (80%) male. Median age was 56 years (range 18–84). Numbers and type of translocation were: 50 (80%) NR4A3-EWS, 10 (16%) NR4A3-TAF15, 1 (2%) NR4A3-TCF12, and 1 (2%) NR4A3-TFG. Median follow-up was 55 months (range 2–312). Five- and ten-year overall survival rates were 94% (86–100 95%CI) and 84% (69–98 95%CI). Thirty-five (52%) patients relapsed: 9 had local recurrence (LR) and 26 had distant metastasis (5 with concomitant LR). The 5- and 10-year disease-free survival rates (DFS) were 51% (38–65 95%CI) and 20% (7–33 95%CI). Size of the primary tumor was significantly related to distant metastasis-free survival (DMFS) (p = 0.004). Patients carrying the NR4A3-EWS translocation had a trend in favor of better DFS (p = 0.08) and DMFS (p = 0.09) compared with the patients with NR4A3-TAF15.ConclusionsProlonged survival can be expected in patients with EMC, in spite of a high rate of recurrence. Size is significantly associated with distant relapse. The type of NR4A3 translocation could influence outcome. More... »

PAGES

1142-1150

Identifiers

URI

http://scigraph.springernature.com/pub.10.1245/s10434-020-08737-7

DOI

http://dx.doi.org/10.1245/s10434-020-08737-7

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1128687482

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/32572850


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25 schema:description BackgroundExtraskeletal myxoid chondrosarcoma (EMC) is a rare sarcoma of uncertain origin, marked by specific chromosomal translocations involving the NR4A3 gene, and usually characterized by an indolent course. Surgery (with or without radiotherapy) is the treatment of choice in localized disease. The treatment for advanced disease remains uncertain. In order to better evaluate prognostic factors and outcome, a retrospective pooled analysis of patients with EMC treated at three Italian Sarcoma Group (ISG) referral centers was carried out.MethodsAll patients with localized EMC surgically treated from 1989 to 2016 were identified. Diagnosis was centrally reviewed according to WHO 2013. Only patients with NR4A3 rearrangement were included.ResultsSixty-seven patients were identified: 13 (20%) female, 54 (80%) male. Median age was 56 years (range 18–84). Numbers and type of translocation were: 50 (80%) NR4A3-EWS, 10 (16%) NR4A3-TAF15, 1 (2%) NR4A3-TCF12, and 1 (2%) NR4A3-TFG. Median follow-up was 55 months (range 2–312). Five- and ten-year overall survival rates were 94% (86–100 95%CI) and 84% (69–98 95%CI). Thirty-five (52%) patients relapsed: 9 had local recurrence (LR) and 26 had distant metastasis (5 with concomitant LR). The 5- and 10-year disease-free survival rates (DFS) were 51% (38–65 95%CI) and 20% (7–33 95%CI). Size of the primary tumor was significantly related to distant metastasis-free survival (DMFS) (p = 0.004). Patients carrying the NR4A3-EWS translocation had a trend in favor of better DFS (p = 0.08) and DMFS (p = 0.09) compared with the patients with NR4A3-TAF15.ConclusionsProlonged survival can be expected in patients with EMC, in spite of a high rate of recurrence. Size is significantly associated with distant relapse. The type of NR4A3 translocation could influence outcome.
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31 schema:keywords Confirmed diagnoses
32 EMC
33 Italian Sarcoma Group
34 MethodsAll patients
35 NR4A3
36 NR4A3 gene
37 ResultsSixty-seven patients
38 Sarcoma Group
39 advanced disease
40 age
41 analysis
42 better disease-free survival rate
43 center
44 choice
45 chondrosarcoma
46 chromosomal translocations
47 course
48 diagnosis
49 disease
50 disease-free survival rates
51 distant metastasis
52 distant metastasis-free survival
53 distant relapse
54 extraskeletal myxoid chondrosarcoma
55 factors
56 favor
57 genes
58 group
59 high rate
60 indolent course
61 local recurrence
62 males
63 median age
64 metastasis
65 metastasis-free survival
66 months
67 multicenter retrospective study
68 myxoid chondrosarcoma
69 number
70 order
71 origin
72 outcomes
73 overall survival rate
74 patients
75 pooled analysis
76 primary tumor
77 prognostic factors
78 rare sarcoma
79 rate
80 rearrangement
81 recurrence
82 referral center
83 relapse
84 retrospective pooled analysis
85 retrospective study
86 sarcoma
87 size
88 specific chromosomal translocations
89 spite
90 study
91 surgery
92 survival
93 survival rate
94 ten-year overall survival rates
95 translocation
96 treatment
97 treatment of choice
98 trends
99 tumors
100 type of translocation
101 types
102 uncertain origin
103 years
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