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Plasma-derived extracellular vesicles miR-335-5p as potential diagnostic biomarkers for fusion-positive rhabdomyosarcoma.
Di Paolo V, Paolini A, Galardi A, Gasparini P, De Cecco L, Colletti M, Lampis S, Raieli S, De Stefanis C, Miele E, Russo I, Di Ruscio V, Casanova M, Alaggio R, Masotti A, Milano GM, Locatelli F, Di Giannatale A. Di Paolo V, et al. J Exp Clin Cancer Res. 2024 Oct 9;43(1):282. doi: 10.1186/s13046-024-03197-3. J Exp Clin Cancer Res. 2024. PMID: 39385294 Free PMC article.
BACKGROUND: Rhabdomyosarcoma (RMS) is the most common pediatric soft tissue sarcoma, with embryonal (ERMS) and alveolar (ARMS) representing the two most common histological subtypes. ARMS shows poor prognosis, being often metastatic at diagnosis. Thus, the discovery of nov …
BACKGROUND: Rhabdomyosarcoma (RMS) is the most common pediatric soft tissue sarcoma, with embryonal (ERMS) and alveolar (ARMS) representing …
Genetic Characterization, Current Model Systems and Prognostic Stratification in PAX Fusion-Negative vs. PAX Fusion-Positive Rhabdomyosarcoma.
Dehner CA, Armstrong AE, Yohe M, Shern JF, Hirbe AC. Dehner CA, et al. Genes (Basel). 2021 Sep 25;12(10):1500. doi: 10.3390/genes12101500. Genes (Basel). 2021. PMID: 34680895 Free PMC article. Review.
Despite advances in our understanding of the pathobiological and molecular landscape of RMS, the prognosis of these tumors has not significantly improved in recent years. Developing a better understanding of genetic abnormalities and risk stratification beyond the fusion s …
Despite advances in our understanding of the pathobiological and molecular landscape of RMS, the prognosis of these tumors has not si …
Germline Genetic Testing and Survival Outcomes Among Children With Rhabdomyosarcoma: A Report From the Children's Oncology Group.
Martin-Giacalone BA, Li H, Scheurer ME, Casey DL, Dugan-Perez S, Marquez-Do DA, Muzny D, Gibbs RA, Barkauskas DA, Hall D, Stewart DR, Schiffman JD, McEvoy MT, Khan J, Malkin D, Linardic CM, Crompton BD, Shern JF, Skapek SX, Venkatramani R, Hawkins DS, Sabo A, Plon SE, Lupo PJ. Martin-Giacalone BA, et al. JAMA Netw Open. 2024 Mar 4;7(3):e244170. doi: 10.1001/jamanetworkopen.2024.4170. JAMA Netw Open. 2024. PMID: 38546643 Free PMC article.
These findings suggest that germline CPV testing may aid in clinical prognosis and should be considered in prospective risk-based clinical trials....
These findings suggest that germline CPV testing may aid in clinical prognosis and should be considered in prospective risk-based cli …
High Frequency of Tumor Propagating Cells in Fusion-Positive Rhabdomyosarcoma.
Generali M, Satheesha S, Bode PK, Wanner D, Schäfer BW, Casanova EA. Generali M, et al. Genes (Basel). 2021 Aug 31;12(9):1373. doi: 10.3390/genes12091373. Genes (Basel). 2021. PMID: 34573355 Free PMC article.
Fusion-positive RMS (FPRMS), expressing the PAX3/7-FOXO1, has a worse prognosis compared to the more common fusion-negative RMS (FNRMS). Although several studies reported hierarchical organization for FNRMS with the identification of cancer stem cells, the cellular organiz …
Fusion-positive RMS (FPRMS), expressing the PAX3/7-FOXO1, has a worse prognosis compared to the more common fusion-negative RMS (FNRM …
FOXF1 is required for the oncogenic properties of PAX3-FOXO1 in rhabdomyosarcoma.
Milewski D, Shukla S, Gryder BE, Pradhan A, Donovan J, Sudha P, Vallabh S, Pyros A, Xu Y, Barski A, Szabo S, Turpin B, Pressey JG, Millay DP, Khan J, Kalinichenko VV, Kalin TV. Milewski D, et al. Oncogene. 2021 Mar;40(12):2182-2199. doi: 10.1038/s41388-021-01694-9. Epub 2021 Feb 24. Oncogene. 2021. PMID: 33627785 Free PMC article.
The PAX3-FOXO1 fusion protein is the key oncogenic driver in fusion positive rhabdomyosarcoma (FP-RMS), an aggressive soft tissue malignancy with a particularly poor prognosis. Identifying key downstream targets of PAX3-FOXO1 will provide new therapeutic opportunities for …
The PAX3-FOXO1 fusion protein is the key oncogenic driver in fusion positive rhabdomyosarcoma (FP-RMS), an aggressive soft tissue malignancy …
Circulating Tumor DNA Is Prognostic in Intermediate-Risk Rhabdomyosarcoma: A Report From the Children's Oncology Group.
Abbou S, Klega K, Tsuji J, Tanhaemami M, Hall D, Barkauskas DA, Krailo MD, Cibulskis C, Nag A, Thorner AR, Pollock S, Imamovic-Tuco A, Shern JF, DuBois SG, Venkatramani R, Hawkins DS, Crompton BD. Abbou S, et al. J Clin Oncol. 2023 May 1;41(13):2382-2393. doi: 10.1200/JCO.22.00409. Epub 2023 Feb 1. J Clin Oncol. 2023. PMID: 36724417 Free PMC article.
However, the use of Rhabdo-Seq in FN-RMS samples also identified single-nucleotide variants, such as MYOD1(L122R), previously associated with prognosis. Identification of pathognomonic translocations between PAX3 or PAX7 and FOXO1 by Rhabdo-Seq was the best method for meas …
However, the use of Rhabdo-Seq in FN-RMS samples also identified single-nucleotide variants, such as MYOD1(L122R), previously associated wit …
Survival outcomes of patients with localized FOXO1 fusion-positive rhabdomyosarcoma treated on recent clinical trials: A report from the Soft Tissue Sarcoma Committee of the Children's Oncology Group.
Heske CM, Chi YY, Venkatramani R, Li M, Arnold MA, Dasgupta R, Hiniker SM, Hawkins DS, Mascarenhas L. Heske CM, et al. Cancer. 2021 Mar 15;127(6):946-956. doi: 10.1002/cncr.33334. Epub 2020 Nov 20. Cancer. 2021. PMID: 33216382 Free PMC article.
Multivariate analysis identified older age (10 years) and large tumor size (>5 cm) as independent, adverse prognostic factors for EFS within this population, and patients who had both adverse features experienced substantially inferior outcomes. CONCLUSIONS: Patients wi …
Multivariate analysis identified older age (10 years) and large tumor size (>5 cm) as independent, adverse prognostic factors for …
Treatment of Pediatric, Adolescent, and Young Adult Patients With Fusion-Positive Alveolar Rhabdomyosarcoma Infiltrating Regional Lymph Nodes in the European CWS-2002P and RMS 2005 Studies and the Soft Tissue Sarcoma Registry.
Heinz AT, Ciuffolotti M, Merks JHM, Schönstein A, Minard-Colin V, Fuchs J, Guillen G, Timmermann B, Vokuhl C, Koscielniak E, Chisholm JC, Sparber-Sauer M, Bisogno G. Heinz AT, et al. Pediatr Blood Cancer. 2025 Mar;72(3):e31476. doi: 10.1002/pbc.31476. Epub 2024 Dec 10. Pediatr Blood Cancer. 2025. PMID: 39655886
Five-year EFS and OS of the cohort were 45% and 47%, respectively. Age and tumor size were independent prognostic factors for EFS. Local treatment applied to the LN with surgery, RT or both significantly improved EFS (p = 0.02) and OS (p = 0.04), with no difference between …
Five-year EFS and OS of the cohort were 45% and 47%, respectively. Age and tumor size were independent prognostic factors for EFS. Lo …