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Rhabdomyosarcoma 1(RMSE1)

MedGen UID:
340307
Concept ID:
C1849385
Neoplastic Process
Synonyms: RHABDOMYOSARCOMA CHROMOSOMAL REGION; RHABDOMYOSARCOMA, EMBRYONAL, 1; RMSE1
 
Gene (location): SLC22A18 (11p15.4)
 
OMIM®: 268210

Clinical features

From HPO
Embryonal rhabdomyosarcoma
MedGen UID:
104910
Concept ID:
C0206656
Neoplastic Process
A poorly circumscribed morphologic variant of rhabdomyosarcoma. It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis.

Professional guidelines

PubMed

Socher JA, Cassano M, Filheiro CA, Cassano P, Felippu A
Acta Otolaryngol 2008 Sep;128(9):1004-10. doi: 10.1080/00016480701793735. PMID: 19086308
Soyer T, Karnak I, Ciftci AO, Senocak ME, Tanyel FC, Büyükpamukçu N
Pediatr Surg Int 2006 Feb;22(2):135-9. Epub 2005 Nov 19 doi: 10.1007/s00383-005-1537-z. PMID: 16328338
Sandoval C, Strom K, Stringel G
JSLS 2004 Apr-Jun;8(2):115-8. PMID: 15119653Free PMC Article

Recent clinical studies

Etiology

Davis KL, Fox E, Isikwei E, Reid JM, Liu X, Minard CG, Voss S, Berg SL, Weigel BJ, Mackall CL
Clin Cancer Res 2022 Dec 1;28(23):5088-5097. doi: 10.1158/1078-0432.CCR-22-2164. PMID: 36190525Free PMC Article
Bueno MT, Martínez-Ríos C, la Puente Gregorio A, Ahyad RA, Villani A, Druker H, van Engelen K, Gallinger B, Aronoff L, Grant R, Malkin D, Greer MC
Pediatr Radiol 2017 Sep;47(10):1292-1301. Epub 2017 May 4 doi: 10.1007/s00247-017-3875-0. PMID: 28474256
Khirwadkar N, Dey P, Das A, Gupta SK
Diagn Cytopathol 2001 Apr;24(4):229-32. doi: 10.1002/dc.1049. PMID: 11285616
Jeffery AR, Ellis FJ, Repka MX, Buncic JR
J AAPOS 1998 Jun;2(3):159-67. doi: 10.1016/s1091-8531(98)90008-8. PMID: 10532753
Lembke J, Havers W, Doetsch N, Rohm N, Sadony V
Thorac Cardiovasc Surg 1986 Nov;34 Spec No 2:137-9. doi: 10.1055/s-2007-1022191. PMID: 2432686

Diagnosis

Bueno MT, Martínez-Ríos C, la Puente Gregorio A, Ahyad RA, Villani A, Druker H, van Engelen K, Gallinger B, Aronoff L, Grant R, Malkin D, Greer MC
Pediatr Radiol 2017 Sep;47(10):1292-1301. Epub 2017 May 4 doi: 10.1007/s00247-017-3875-0. PMID: 28474256
Indra S, Maqbool S
Pediatr Rev 2017 Jan;38(1):49. doi: 10.1542/pir.2015-0002. PMID: 28044036
Khirwadkar N, Dey P, Das A, Gupta SK
Diagn Cytopathol 2001 Apr;24(4):229-32. doi: 10.1002/dc.1049. PMID: 11285616
Jeffery AR, Ellis FJ, Repka MX, Buncic JR
J AAPOS 1998 Jun;2(3):159-67. doi: 10.1016/s1091-8531(98)90008-8. PMID: 10532753
Wolter JR, O'Malley ER
J Pediatr Ophthalmol Strabismus 1978 Sep-Oct;15(5):303-5. doi: 10.3928/0191-3913-19780901-11. PMID: 24877354

Therapy

Davis KL, Fox E, Isikwei E, Reid JM, Liu X, Minard CG, Voss S, Berg SL, Weigel BJ, Mackall CL
Clin Cancer Res 2022 Dec 1;28(23):5088-5097. doi: 10.1158/1078-0432.CCR-22-2164. PMID: 36190525Free PMC Article
Indra S, Maqbool S
Pediatr Rev 2017 Jan;38(1):49. doi: 10.1542/pir.2015-0002. PMID: 28044036
Dall'Igna P, De Corti F, Alaggio R, Cecchetto G
Eur J Pediatr Surg 2014 Dec;24(6):482-7. Epub 2014 Dec 5 doi: 10.1055/s-0034-1396422. PMID: 25478665
Kebudi R, Ayan I, Görgün O, Ağaoğlu FY, Vural S, Darendeliler E
J Neurooncol 2005 Jan;71(1):43-8. doi: 10.1007/s11060-004-4840-y. PMID: 15719274
Wolter JR, O'Malley ER
J Pediatr Ophthalmol Strabismus 1978 Sep-Oct;15(5):303-5. doi: 10.3928/0191-3913-19780901-11. PMID: 24877354

Prognosis

Agrawal S, Lacy JM, Bagga H, Angermeier KW, Ciezki J, Tendulkar RD, Reddy CA, Wood HM
Urology 2017 Dec;110:172-176. Epub 2017 Sep 4 doi: 10.1016/j.urology.2017.08.036. PMID: 28882777
Kebudi R, Ayan I, Görgün O, Ağaoğlu FY, Vural S, Darendeliler E
J Neurooncol 2005 Jan;71(1):43-8. doi: 10.1007/s11060-004-4840-y. PMID: 15719274
Blanchard DK, Reynolds CA, Grant CS, Donohue JH
Am J Surg 2003 Oct;186(4):359-61. doi: 10.1016/s0002-9610(03)00269-1. PMID: 14553850
Hancock BJ, Di Lorenzo M, Youssef S, Yazbeck S, Marcotte JE, Collin PP
J Pediatr Surg 1993 Sep;28(9):1133-6. doi: 10.1016/0022-3468(93)90147-d. PMID: 8308677
Lembke J, Havers W, Doetsch N, Rohm N, Sadony V
Thorac Cardiovasc Surg 1986 Nov;34 Spec No 2:137-9. doi: 10.1055/s-2007-1022191. PMID: 2432686

Clinical prediction guides

Davis KL, Fox E, Isikwei E, Reid JM, Liu X, Minard CG, Voss S, Berg SL, Weigel BJ, Mackall CL
Clin Cancer Res 2022 Dec 1;28(23):5088-5097. doi: 10.1158/1078-0432.CCR-22-2164. PMID: 36190525Free PMC Article
Siraj AK, Bu R, Iqbal K, Parvathareddy SK, Siraj N, Siraj S, Diaz MRF, Rala DR, Benito AD, Sabido MA, Al-Rasheed M, Al-Obaisi KAS, Al-Haqawi W, Victoria IG, Al Balawy W, Abedalthagafi M, Wakil SM, Ajarim D, Mohammed S, Alhussain T, Tulbah A, Al-Badawi IA, Al-Dayel F, Al-Kuraya KS
Genomics 2020 Mar;112(2):1746-1753. Epub 2019 Oct 31 doi: 10.1016/j.ygeno.2019.09.017. PMID: 31669704
Ergin G, Kopru B, Ebiloglu T, Kirac M, Kibar Y, Fuat Cicek A, Biri H
Arch Esp Urol 2019 Nov;72(9):955-964. PMID: 31697257
Bueno MT, Martínez-Ríos C, la Puente Gregorio A, Ahyad RA, Villani A, Druker H, van Engelen K, Gallinger B, Aronoff L, Grant R, Malkin D, Greer MC
Pediatr Radiol 2017 Sep;47(10):1292-1301. Epub 2017 May 4 doi: 10.1007/s00247-017-3875-0. PMID: 28474256
Kriseman ML, Wang WL, Sullinger J, Schmeler KM, Ramirez PT, Herzog CE, Frumovitz M
Gynecol Oncol 2012 Sep;126(3):351-6. Epub 2012 May 15 doi: 10.1016/j.ygyno.2012.05.008. PMID: 22609112Free PMC Article

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