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Rhabdomyosarcoma 1(RMSE1)

MedGen UID:
340307
Concept ID:
C1849385
Neoplastic Process
Synonyms: RHABDOMYOSARCOMA CHROMOSOMAL REGION; RHABDOMYOSARCOMA, EMBRYONAL, 1; RMSE1
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
 
Gene (location): SLC22A18 (11p15.4)
OMIM®: 268210

Clinical features

Embryonal rhabdomyosarcoma
MedGen UID:
505967
Concept ID:
CN005870
Finding
Embryonal rhabdomyosarcoma
MedGen UID:
505967
Concept ID:
CN005870
Finding

Recent clinical studies

Etiology

Hishiki T, Saito T, Mitsunaga T, Nakata M, Terui E, Komatsu S, Mise N, Harada K, Iwai J, Higashimoto Y, Okimoto Y, Kakuda H, Ochiai H, Hino M, Homma S, Osa Y, Yoshida H
Pediatr Surg Int 2013 Oct;29(10):1077-82. doi: 10.1007/s00383-013-3400-y. PMID: 23989524
Macedo A Jr, Damázio E, Bacelar H, Rondon A, Ottoni S, Liguori R, Garrone G, Leslie B, Ortiz V
J Pediatr Urol 2013 Jun;9(3):272-7. Epub 2012 May 28 doi: 10.1016/j.jpurol.2012.03.008. [Epub ahead of print] PMID: 22647747
Ugare UG, Bassey IE, Jibrin PG, Ekanem IA
Afr Health Sci 2012 Mar;12(1):69-73. PMID: 23066423Free PMC Article
Tagarelli A, Spreafico F, Ferrari A, Alaggio R, Cecchetto G, Collini P, Indolfi P, Burnelli R, Morali L, Bisogno G
Urology 2012 Sep;80(3):698-702. Epub 2012 Jul 10 doi: 10.1016/j.urology.2012.05.019. [Epub ahead of print] PMID: 22784490
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. [Epub ahead of print] PMID: 22609112Free PMC Article

Diagnosis

Hishiki T, Saito T, Mitsunaga T, Nakata M, Terui E, Komatsu S, Mise N, Harada K, Iwai J, Higashimoto Y, Okimoto Y, Kakuda H, Ochiai H, Hino M, Homma S, Osa Y, Yoshida H
Pediatr Surg Int 2013 Oct;29(10):1077-82. doi: 10.1007/s00383-013-3400-y. PMID: 23989524
Ugare UG, Bassey IE, Jibrin PG, Ekanem IA
Afr Health Sci 2012 Mar;12(1):69-73. PMID: 23066423Free PMC Article
Tagarelli A, Spreafico F, Ferrari A, Alaggio R, Cecchetto G, Collini P, Indolfi P, Burnelli R, Morali L, Bisogno G
Urology 2012 Sep;80(3):698-702. Epub 2012 Jul 10 doi: 10.1016/j.urology.2012.05.019. [Epub ahead of print] PMID: 22784490
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. [Epub ahead of print] PMID: 22609112Free PMC Article
Shrader MW, Schwab JH, Shaughnessy WJ, Jacofsky DJ
Am J Orthop (Belle Mead NJ) 2009 Feb;38(2):83-6; discussion 86. PMID: 19340370

Therapy

Abellar RG, Pepperell JR, Greco D, Gundogan F, Kostadinov S, Schwartz J, Tantravahi U, De Paepe ME
Pediatr Dev Pathol 2009 Jan-Feb;12(1):35-41. doi: 10.2350/08-03-0435.1. PMID: 18462010
Gow KW, Rapkin LB, Olson TA, Durham MM, Wyly B, Shehata BM
J Pediatr Surg 2008 Dec;43(12):2193-8. doi: 10.1016/j.jpedsurg.2008.08.063. PMID: 19040933
Langevin AM, Bernstein M, Kuhn JG, Blaney SM, Ivy P, Sun J, Chen Z, Adamson PC; Children's Oncology Group
Pediatr Blood Cancer 2008 Mar;50(3):577-80. doi: 10.1002/pbc.21274. PMID: 17610262
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

Hishiki T, Saito T, Mitsunaga T, Nakata M, Terui E, Komatsu S, Mise N, Harada K, Iwai J, Higashimoto Y, Okimoto Y, Kakuda H, Ochiai H, Hino M, Homma S, Osa Y, Yoshida H
Pediatr Surg Int 2013 Oct;29(10):1077-82. doi: 10.1007/s00383-013-3400-y. PMID: 23989524
Macedo A Jr, Damázio E, Bacelar H, Rondon A, Ottoni S, Liguori R, Garrone G, Leslie B, Ortiz V
J Pediatr Urol 2013 Jun;9(3):272-7. Epub 2012 May 28 doi: 10.1016/j.jpurol.2012.03.008. [Epub ahead of print] PMID: 22647747
Ugare UG, Bassey IE, Jibrin PG, Ekanem IA
Afr Health Sci 2012 Mar;12(1):69-73. PMID: 23066423Free PMC Article
Tagarelli A, Spreafico F, Ferrari A, Alaggio R, Cecchetto G, Collini P, Indolfi P, Burnelli R, Morali L, Bisogno G
Urology 2012 Sep;80(3):698-702. Epub 2012 Jul 10 doi: 10.1016/j.urology.2012.05.019. [Epub ahead of print] PMID: 22784490
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. [Epub ahead of print] PMID: 22609112Free PMC Article

Clinical prediction guides

Ugare UG, Bassey IE, Jibrin PG, Ekanem IA
Afr Health Sci 2012 Mar;12(1):69-73. PMID: 23066423Free PMC Article
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. [Epub ahead of print] PMID: 22609112Free PMC Article
Langevin AM, Bernstein M, Kuhn JG, Blaney SM, Ivy P, Sun J, Chen Z, Adamson PC; Children's Oncology Group
Pediatr Blood Cancer 2008 Mar;50(3):577-80. doi: 10.1002/pbc.21274. PMID: 17610262
Gebert C, Hillmann A, Schwappach A, Hoffmann Ch, Hardes J, Kleinheinz J, Gosheger G
J Surg Oncol 2006 Aug 1;94(2):114-27. doi: 10.1002/jso.20326. PMID: 16847920
Berberoğlu K, Unal SN, Kebudi R, Türkmen C, Cantez S
Nucl Med Commun 2005 Dec;26(12):1075-80. PMID: 16264353

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