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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.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Diagnosis and treatment of isolated sphenoid sinus disease: a review of 109 cases.
Socher JA, Cassano M, Filheiro CA, Cassano P, Felippu A
Acta Otolaryngol 2008 Sep;128(9):1004-10. doi: 10.1080/00016480701793735. PMID: 19086308
The results of surgical treatment of chest wall tumors in childhood.
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
Laparoscopy in the management of pediatric intraabdominal tumors.
Sandoval C, Strom K, Stringel G
JSLS 2004 Apr-Jun;8(2):115-8. PMID: 15119653Free PMC Article

Recent clinical studies

Etiology

A Phase I/II Trial of Nivolumab plus Ipilimumab in Children and Young Adults with Relapsed/Refractory Solid Tumors: A Children's Oncology Group Study ADVL1412.
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
Pediatric imaging in DICER1 syndrome.
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
Fine-needle aspiration biopsy of metastatic soft-tissue sarcomas to lymph nodes.
Khirwadkar N, Dey P, Das A, Gupta SK
Diagn Cytopathol 2001 Apr;24(4):229-32. doi: 10.1002/dc.1049. PMID: 11285616
Pediatric Horner syndrome.
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
Long-term results following surgical removal of pulmonary metastases in children with malignomas.
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

Pediatric imaging in DICER1 syndrome.
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
Case 4: Worsening Abdominal Distention in a 2-year-old Boy.
Indra S, Maqbool S
Pediatr Rev 2017 Jan;38(1):49. doi: 10.1542/pir.2015-0002. PMID: 28044036
Fine-needle aspiration biopsy of metastatic soft-tissue sarcomas to lymph nodes.
Khirwadkar N, Dey P, Das A, Gupta SK
Diagn Cytopathol 2001 Apr;24(4):229-32. doi: 10.1002/dc.1049. PMID: 11285616
Pediatric Horner syndrome.
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
The management of advanced rhabdomyosarcoma of the upper eyelid.
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

A Phase I/II Trial of Nivolumab plus Ipilimumab in Children and Young Adults with Relapsed/Refractory Solid Tumors: A Children's Oncology Group Study ADVL1412.
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
Case 4: Worsening Abdominal Distention in a 2-year-old Boy.
Indra S, Maqbool S
Pediatr Rev 2017 Jan;38(1):49. doi: 10.1542/pir.2015-0002. PMID: 28044036
Sentinel node biopsy in pediatric patients: the experience in a single institution.
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
Brain metastasis in pediatric extracranial solid tumors: survey and literature review.
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
The management of advanced rhabdomyosarcoma of the upper eyelid.
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

Secondary Urethral Malignancies Following Prostate Brachytherapy.
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
Brain metastasis in pediatric extracranial solid tumors: survey and literature review.
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
Primary nonphylloides breast sarcomas.
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
Childhood primary pulmonary neoplasms.
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
Long-term results following surgical removal of pulmonary metastases in children with malignomas.
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

A Phase I/II Trial of Nivolumab plus Ipilimumab in Children and Young Adults with Relapsed/Refractory Solid Tumors: A Children's Oncology Group Study ADVL1412.
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
Telomerase reverse transcriptase promoter mutations in cancers derived from multiple organ sites among middle eastern population.
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
Unusual intrascrotal lesions in adults in urological practice.
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
Pediatric imaging in DICER1 syndrome.
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
Rhabdomyosarcoma of the cervix in adult women and younger patients.
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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