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Rhabdomyosarcoma

MedGen UID:
20561
Concept ID:
C0035412
Neoplastic Process
Synonym: Rhabdomyosarcoma (disease)
SNOMED CT: Rhabdomyosarcoma (302847003); Rhabdosarcoma (302847003); Malignant soft tissue tumor of skeletal muscle differentiation (30924005); Rhabdomyosarcoma (30924005); Rhabdosarcoma (30924005)
Modes of inheritance:
Non-Mendelian inheritance
MedGen UID:
109109
Concept ID:
C0600599
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
 
HPO: HP:0002859
Monarch Initiative: MONDO:0005212
Orphanet: ORPHA780

Definition

A malignant soft tissue tumor which develops from cells of striated muscle. It is the most common form of tumor found in children and adolescents. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRhabdomyosarcoma
Follow this link to review classifications for Rhabdomyosarcoma in Orphanet.

Conditions with this feature

Neurofibromatosis, type 1
MedGen UID:
18013
Concept ID:
C0027831
Neoplastic Process
Neurofibromatosis 1 (NF1) is a multisystem disorder characterized by multiple café au lait macules, intertriginous freckling, multiple cutaneous neurofibromas, and learning disability or behavior problems. About half of people with NF1 have plexiform neurofibromas, but most are internal and not suspected clinically. Plexiform neurofibromas can cause pain, neurologic deficits, and abnormalities of involved or adjacent structures. Less common but potentially more serious manifestations include optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, vasculopathy, and gastrointestinal, endocrine, or pulmonary disease.
Microcephaly, normal intelligence and immunodeficiency
MedGen UID:
140771
Concept ID:
C0398791
Disease or Syndrome
Nijmegen breakage syndrome (NBS) is characterized by progressive microcephaly, early growth deficiency that improves with age, recurrent respiratory infections, an increased risk for malignancy (primarily lymphoma), and premature ovarian failure in females. Developmental milestones are attained at the usual time during the first year; however, borderline delays in development and hyperactivity may be observed in early childhood. Intellectual abilities tend to decline over time. Recurrent pneumonia and bronchitis may result in respiratory failure and early death. Other reported malignancies include solid tumors (e.g., medulloblastoma, glioma, rhabdomyosarcoma).
Costello syndrome
MedGen UID:
108454
Concept ID:
C0587248
Disease or Syndrome
While the majority of individuals with Costello syndrome share characteristic findings affecting multiple organ systems, the phenotypic spectrum is wide, ranging from a milder or attenuated phenotype to a severe phenotype with early lethal complications. Costello syndrome is typically characterized by failure to thrive in infancy as a result of severe postnatal feeding difficulties; short stature; developmental delay or intellectual disability; coarse facial features (full lips, large mouth, full nasal tip); curly or sparse, fine hair; loose, soft skin with deep palmar and plantar creases; papillomata of the face and perianal region; diffuse hypotonia and joint laxity with ulnar deviation of the wrists and fingers; tight Achilles tendons; and cardiac involvement including: cardiac hypertrophy (usually typical hypertrophic cardiomyopathy), congenital heart defect (usually valvar pulmonic stenosis), and arrhythmia (usually supraventricular tachycardia, especially chaotic atrial rhythm/multifocal atrial tachycardia or ectopic atrial tachycardia). Relative or absolute macrocephaly is typical, and postnatal cerebellar overgrowth can result in the development of a Chiari I malformation with associated anomalies including hydrocephalus or syringomyelia. Individuals with Costello syndrome have an approximately 15% lifetime risk for malignant tumors including rhabdomyosarcoma and neuroblastoma in young children and transitional cell carcinoma of the bladder in adolescents and young adults.
Pleuropulmonary blastoma
MedGen UID:
266105
Concept ID:
C1266144
Neoplastic Process
DICER1 tumor predisposition (DICER1) is characterized by an increased risk for pleuropulmonary blastoma (PPB), pulmonary cysts, thyroid gland neoplasia (multinodular goiter, adenomas, and/or thyroid cancer), ovarian tumors (Sertoli-Leydig cell tumor, gynandroblastoma, and sarcoma), and cystic nephroma. Less commonly observed tumors include ciliary body medulloepithelioma, nasal chondromesenchymal hamartoma, embryonal rhabdomyosarcoma, pituitary blastoma, pineoblastoma, central nervous system (CNS) sarcoma, other CNS tumors, and presacral malignant teratoid tumor. The majority of tumors occur in individuals younger than age 40 years. PPB typically presents in infants and children younger than age six years. Ovarian sex cord-stromal tumors are most often diagnosed before age 40 years. Cystic nephroma generally presents in young children but has also been reported in adolescents. Additional clinical features that may be seen include macrocephaly, ocular abnormalities, structural anomalies of the kidney and collecting system, and dental anomalies (bulbous crowns).
Mismatch repair cancer syndrome 1
MedGen UID:
1748029
Concept ID:
C5399763
Disease or Syndrome
Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, ovary, stomach, small bowel, urinary tract, biliary tract, brain (usually glioblastoma), skin (sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas), pancreas, and prostate. Cancer risks and age of onset vary depending on the associated gene. Several other cancer types have been reported to occur in individuals with Lynch syndrome (e.g., breast, sarcomas, adrenocortical carcinoma). However, the data are not sufficient to demonstrate that the risk of developing these cancers is increased in individuals with Lynch syndrome.

Professional guidelines

PubMed

von Mehren M, Kane JM, Agulnik M, Bui MM, Carr-Ascher J, Choy E, Connelly M, Dry S, Ganjoo KN, Gonzalez RJ, Holder A, Homsi J, Keedy V, Kelly CM, Kim E, Liebner D, McCarter M, McGarry SV, Mesko NW, Meyer C, Pappo AS, Parkes AM, Petersen IA, Pollack SM, Poppe M, Riedel RF, Schuetze S, Shabason J, Sicklick JK, Spraker MB, Zimel M, Hang LE, Sundar H, Bergman MA
J Natl Compr Canc Netw 2022 Jul;20(7):815-833. doi: 10.6004/jnccn.2022.0035. PMID: 35830886Free PMC Article
Rogers TN, Dasgupta R
Surg Oncol Clin N Am 2021 Apr;30(2):339-353. Epub 2021 Jan 27 doi: 10.1016/j.soc.2020.11.003. PMID: 33706904
Poterucha TJ, Kochav J, O'Connor DS, Rosner GF
Curr Treat Options Oncol 2019 Jun 27;20(8):66. doi: 10.1007/s11864-019-0662-1. PMID: 31250250

Recent clinical studies

Etiology

Haduong JH, Heske CM, Allen-Rhoades W, Xue W, Teot LA, Rodeberg DA, Donaldson SS, Weiss A, Hawkins DS, Venkatramani R
Pediatr Blood Cancer 2022 Apr;69(4):e29511. Epub 2022 Feb 7 doi: 10.1002/pbc.29511. PMID: 35129294Free PMC Article
Yechieli RL, Mandeville HC, Hiniker SM, Bernier-Chastagner V, McGovern S, Scarzello G, Wolden S, Cameron A, Breneman J, Fajardo RD, Donaldson SS
Pediatr Blood Cancer 2021 May;68 Suppl 2:e28254. doi: 10.1002/pbc.28254. PMID: 33818882
Rogers TN, Dasgupta R
Surg Oncol Clin N Am 2021 Apr;30(2):339-353. Epub 2021 Jan 27 doi: 10.1016/j.soc.2020.11.003. PMID: 33706904
Skapek SX, Ferrari A, Gupta AA, Lupo PJ, Butler E, Shipley J, Barr FG, Hawkins DS
Nat Rev Dis Primers 2019 Jan 7;5(1):1. doi: 10.1038/s41572-018-0051-2. PMID: 30617281Free PMC Article
Dasgupta R, Fuchs J, Rodeberg D
Semin Pediatr Surg 2016 Oct;25(5):276-283. Epub 2016 Sep 20 doi: 10.1053/j.sempedsurg.2016.09.011. PMID: 27955730

Diagnosis

Rajagopalan A, Christenberry SC, Ramachandran V
Pediatr Rev 2022 Oct 1;43(10):599-600. doi: 10.1542/pir.2021-004977. PMID: 36180539
Rogers TN, Dasgupta R
Surg Oncol Clin N Am 2021 Apr;30(2):339-353. Epub 2021 Jan 27 doi: 10.1016/j.soc.2020.11.003. PMID: 33706904
Leiner J, Le Loarer F
Virchows Arch 2020 Jan;476(1):97-108. Epub 2019 Nov 6 doi: 10.1007/s00428-019-02676-9. PMID: 31696361
Dasgupta R, Fuchs J, Rodeberg D
Semin Pediatr Surg 2016 Oct;25(5):276-283. Epub 2016 Sep 20 doi: 10.1053/j.sempedsurg.2016.09.011. PMID: 27955730
Córdoba Rovira SM, Inarejos Clemente EJ
Radiologia 2016 Nov-Dec;58(6):481-490. Epub 2016 Nov 1 doi: 10.1016/j.rx.2016.09.003. PMID: 27810092

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
Hettmer S, Linardic CM, Kelsey A, Rudzinski ER, Vokuhl C, Selfe J, Ruhen O, Shern JF, Khan J, Kovach AR, Lupo PJ, Gatz SA, Schäfer BW, Volchenboum S, Minard-Colin V, Koscielniak E, Hawkins DS, Bisogno G, Sparber-Sauer M, Venkatramani R, Merks JHM, Shipley J
Eur J Cancer 2022 Sep;172:367-386. Epub 2022 Jul 12 doi: 10.1016/j.ejca.2022.05.036. PMID: 35839732
Patel AG, Chen X, Huang X, Clay MR, Komorova N, Krasin MJ, Pappo A, Tillman H, Orr BA, McEvoy J, Gordon B, Blankenship K, Reilly C, Zhou X, Norrie JL, Karlstrom A, Yu J, Wodarz D, Stewart E, Dyer MA
Dev Cell 2022 May 23;57(10):1226-1240.e8. Epub 2022 Apr 27 doi: 10.1016/j.devcel.2022.04.003. PMID: 35483358Free PMC Article
Defachelles AS, Bogart E, Casanova M, Merks JHM, Bisogno G, Calareso G, Gallego Melcon S, Gatz SA, Le Deley MC, McHugh K, Probst A, Rocourt N, van Rijn RR, Wheatley K, Minard-Colin V, Chisholm JC
J Clin Oncol 2021 Sep 20;39(27):2979-2990. Epub 2021 Aug 3 doi: 10.1200/JCO.21.00124. PMID: 34343032
Crist WM, Anderson JR, Meza JL, Fryer C, Raney RB, Ruymann FB, Breneman J, Qualman SJ, Wiener E, Wharam M, Lobe T, Webber B, Maurer HM, Donaldson SS
J Clin Oncol 2001 Jun 15;19(12):3091-102. doi: 10.1200/JCO.2001.19.12.3091. PMID: 11408506

Prognosis

Milgrom SA, Million L, Mandeville H, Safwat A, Ermoian RP, Terezakis S
Pediatr Blood Cancer 2021 May;68 Suppl 2:e28279. doi: 10.1002/pbc.28279. PMID: 33818885
Yechieli RL, Mandeville HC, Hiniker SM, Bernier-Chastagner V, McGovern S, Scarzello G, Wolden S, Cameron A, Breneman J, Fajardo RD, Donaldson SS
Pediatr Blood Cancer 2021 May;68 Suppl 2:e28254. doi: 10.1002/pbc.28254. PMID: 33818882
Spunt SL, Million L, Chi YY, Anderson J, Tian J, Hibbitts E, Coffin C, McCarville MB, Randall RL, Parham DM, Black JO, Kao SC, Hayes-Jordan A, Wolden S, Laurie F, Speights R, Kawashima E, Skapek SX, Meyer W, Pappo AS, Hawkins DS
Lancet Oncol 2020 Jan;21(1):145-161. Epub 2019 Nov 27 doi: 10.1016/S1470-2045(19)30672-2. PMID: 31786124Free PMC Article
Poterucha TJ, Kochav J, O'Connor DS, Rosner GF
Curr Treat Options Oncol 2019 Jun 27;20(8):66. doi: 10.1007/s11864-019-0662-1. PMID: 31250250
Ferrari A, Dirksen U, Bielack S
Prog Tumor Res 2016;43:128-41. Epub 2016 Sep 5 doi: 10.1159/000447083. PMID: 27595362

Clinical prediction guides

DeMartino J, Meister MT, Visser LL, Brok M, Groot Koerkamp MJA, Wezenaar AKL, Hiemcke-Jiwa LS, de Souza T, Merks JHM, Rios AC, Holstege FCP, Margaritis T, Drost J
Nat Commun 2023 May 27;14(1):3074. doi: 10.1038/s41467-023-38886-8. PMID: 37244912Free PMC Article
Crane JN, Xue W, Qumseya A, Gao Z, Arndt CAS, Donaldson SS, Harrison DJ, Hawkins DS, Linardic CM, Mascarenhas L, Meyer WH, Rodeberg DA, Rudzinski ER, Shulkin BL, Walterhouse DO, Venkatramani R, Weiss AR
Pediatr Blood Cancer 2022 Jun;69(6):e29644. Epub 2022 Mar 6 doi: 10.1002/pbc.29644. PMID: 35253352Free PMC Article
Shern JF, Selfe J, Izquierdo E, Patidar R, Chou HC, Song YK, Yohe ME, Sindiri S, Wei J, Wen X, Rudzinski ER, Barkauskas DA, Lo T, Hall D, Linardic CM, Hughes D, Jamal S, Jenney M, Chisholm J, Brown R, Jones K, Hicks B, Angelini P, George S, Chesler L, Hubank M, Kelsey A, Gatz SA, Skapek SX, Hawkins DS, Shipley JM, Khan J
J Clin Oncol 2021 Sep 10;39(26):2859-2871. Epub 2021 Jun 24 doi: 10.1200/JCO.20.03060. PMID: 34166060Free PMC Article
Dasgupta R, Rodeberg DA
Semin Pediatr Surg 2012 Feb;21(1):68-78. doi: 10.1053/j.sempedsurg.2011.10.007. PMID: 22248972
Hays DM
Clin Orthop Relat Res 1993 Apr;(289):36-49. PMID: 8472431

Recent systematic reviews

Rodríguez-Vargas MP, Villanueva-Sánchez FG
Med Oral Patol Oral Cir Bucal 2022 Nov 1;27(6):e569-e577. doi: 10.4317/medoral.25508. PMID: 36173721Free PMC Article
Vered M, Wright JM
Head Neck Pathol 2022 Mar;16(1):63-75. Epub 2022 Mar 21 doi: 10.1007/s12105-021-01404-7. PMID: 35312978Free PMC Article
Wong K, Arrighi-Allisan AE, Fan CJ, Wanna GB, Cosetti MK, Perez ER
Otolaryngol Head Neck Surg 2022 Dec;167(6):901-911. Epub 2021 Dec 7 doi: 10.1177/01945998211064190. PMID: 34874762
Guerrero-Pérez F, Vidal N, López-Vázquez M, Sánchez-Barrera R, Sánchez-Fernández JJ, Torres-Díaz A, Vilarrasa N, Villabona C
Pituitary 2021 Feb;24(1):117-129. doi: 10.1007/s11102-020-01073-9. PMID: 32785833
Mur TA, Pellegrini WR, Jaleel Z, Edwards HA, Levi JR
Int J Pediatr Otorhinolaryngol 2020 Dec;139:110471. Epub 2020 Oct 23 doi: 10.1016/j.ijporl.2020.110471. PMID: 33120103

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