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Rhabdomyoma

MedGen UID:
48445
Concept ID:
C0035411
Neoplastic Process
Synonym: Rhabdomyomas
SNOMED CT: Rhabdomyoma (302846007); Rhabdomyoma (1156975001)
 
HPO: HP:0009730
Monarch Initiative: MONDO:0036688

Definition

A benign tumor of striated muscle. [from HPO]

Conditions with this feature

Gorlin syndrome
MedGen UID:
2554
Concept ID:
C0004779
Neoplastic Process
Nevoid basal cell carcinoma syndrome (NBCCS) is characterized by the development of multiple jaw keratocysts, frequently beginning in the second decade of life, and/or basal cell carcinomas (BCCs) usually from the third decade onward. Approximately 60% of individuals have a recognizable appearance with macrocephaly, frontal bossing, coarse facial features, and facial milia. Most individuals have skeletal anomalies (e.g., bifid ribs, wedge-shaped vertebrae). Ectopic calcification, particularly in the falx, is present in more than 90% of affected individuals by age 20 years. Cardiac and ovarian fibromas occur in approximately 2% and 20% of individuals respectively. Approximately 5% of all children with NBCCS develop medulloblastoma (primitive neuroectodermal tumor), generally the desmoplastic subtype. The risk of developing medulloblastoma is substantially higher in individuals with an SUFU pathogenic variant (33%) than in those with a PTCH1 pathogenic variant (<2%). Peak incidence is at age one to two years. Life expectancy in NBCCS is not significantly different from average.

Professional guidelines

PubMed

Yıldırım S, Aypar E, Aydın B, Akyüz C, Aykan HH, Ertuğrul İ, Karagöz T, Alehan D
Turk J Pediatr 2023;65(3):479-488. doi: 10.24953/turkjped.2022.922. PMID: 37395967
Zhen L, Yang YD, He Y, Pan M, Han J, Yang X, Xu LL, Li DZ
Eur J Obstet Gynecol Reprod Biol 2020 Jun;249:7-10. Epub 2020 Apr 10 doi: 10.1016/j.ejogrb.2020.03.051. PMID: 32320828
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

Touraine R, Hauet Q, Harzallah I, Baruteau AE
Arch Pediatr 2022 Dec;29(5S):5S3-5S7. doi: 10.1016/S0929-693X(22)00283-4. PMID: 36585068
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
Wick MR
Semin Diagn Pathol 2019 Jan;36(1):2-10. Epub 2018 Nov 16 doi: 10.1053/j.semdp.2018.11.002. PMID: 30473462
Petris AO, Alexandrescu DM, Costache II
Rev Med Chir Soc Med Nat Iasi 2014 Apr-Jun;118(2):289-92. PMID: 25076689
Parham DM, Alaggio R, Coffin CM
Pediatr Dev Pathol 2012;15(1 Suppl):211-38. doi: 10.2350/10-12-0953-PB.1. PMID: 22420729

Diagnosis

da Silva Leonel ACL, Dos Santos ST, de Amorim Carvalho EJ, de Castro JFL, de Almeida OP, da Cruz Perez DE
Head Neck Pathol 2021 Dec;15(4):1253-1260. Epub 2021 Aug 10 doi: 10.1007/s12105-021-01371-z. PMID: 34378165Free PMC Article
González-Pérez L, Alvarez-Argüelles H, Ramos Gutiérrez VJ, Hernández SG, Plata Bello AC, Concepción Masip T, Salido Ruiz E
Urol Int 2018;101(2):240-244. Epub 2017 Dec 8 doi: 10.1159/000485256. PMID: 29224022
Amonkar GP, Kandalkar BM, Balasubramanian M
Cardiovasc Pathol 2009 Sep-Oct;18(5):313-4. Epub 2008 Apr 15 doi: 10.1016/j.carpath.2008.02.002. PMID: 18417369
Kurzrock EA, Busby JE, Gandour-Edwards R
J Pediatr Surg 2003 Oct;38(10):1546-7. doi: 10.1016/s0022-3468(03)00513-x. PMID: 14577086
Willis J, Abdul-Karim FW, di Sant'Agnese PA
Semin Diagn Pathol 1994 Feb;11(1):15-25. PMID: 8202643

Therapy

Qaderi S, Javinani A, Blumenfeld YJ, Krispin E, Papanna R, Chervenak FA, Shamshirsaz AA
Prenat Diagn 2024 Jan;44(1):88-98. Epub 2024 Jan 4 doi: 10.1002/pd.6492. PMID: 38177082
Yıldırım S, Aypar E, Aydın B, Akyüz C, Aykan HH, Ertuğrul İ, Karagöz T, Alehan D
Turk J Pediatr 2023;65(3):479-488. doi: 10.24953/turkjped.2022.922. PMID: 37395967
Grau J, Zöllner JP, Schubert-Bast S, Kurlemann G, Hertzberg C, Wiemer-Kruel A, Bast T, Bertsche A, Bettendorf U, Fiedler B, Hahn A, Hartmann H, Hornemann F, Immisch I, Jacobs J, Kieslich M, Klein KM, Klotz KA, Kluger G, Knuf M, Mayer T, Marquard K, Meyer S, Muhle H, Müller-Schlüter K, Noda AH, Ruf S, Sauter M, Schlump JU, Syrbe S, Thiels C, Trollmann R, Wilken B, Willems LM, Rosenow F, Strzelczyk A
Orphanet J Rare Dis 2021 Jun 21;16(1):282. doi: 10.1186/s13023-021-01899-x. PMID: 34154622Free PMC Article
Wick MR
Semin Diagn Pathol 2019 Jan;36(1):2-10. Epub 2018 Nov 16 doi: 10.1053/j.semdp.2018.11.002. PMID: 30473462
Borkowska J, Schwartz RA, Kotulska K, Jozwiak S
Int J Dermatol 2011 Jan;50(1):13-20. doi: 10.1111/j.1365-4632.2010.04727.x. PMID: 21182496

Prognosis

Touraine R, Hauet Q, Harzallah I, Baruteau AE
Arch Pediatr 2022 Dec;29(5S):5S3-5S7. doi: 10.1016/S0929-693X(22)00283-4. PMID: 36585068
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
Tzani A, Doulamis IP, Mylonas KS, Avgerinos DV, Nasioudis D
World J Pediatr Congenit Heart Surg 2017 Sep;8(5):624-632. doi: 10.1177/2150135117723904. PMID: 28901236
Petris AO, Alexandrescu DM, Costache II
Rev Med Chir Soc Med Nat Iasi 2014 Apr-Jun;118(2):289-92. PMID: 25076689
Parham DM, Alaggio R, Coffin CM
Pediatr Dev Pathol 2012;15(1 Suppl):211-38. doi: 10.2350/10-12-0953-PB.1. PMID: 22420729

Clinical prediction guides

Touraine R, Hauet Q, Harzallah I, Baruteau AE
Arch Pediatr 2022 Dec;29(5S):5S3-5S7. doi: 10.1016/S0929-693X(22)00283-4. PMID: 36585068
Zhu Y, Fu W, Huang Y, Sun N, Peng Y
BMC Med Imaging 2021 Dec 1;21(1):181. doi: 10.1186/s12880-021-00715-z. PMID: 34847857Free PMC Article
da Silva Leonel ACL, Dos Santos ST, de Amorim Carvalho EJ, de Castro JFL, de Almeida OP, da Cruz Perez DE
Head Neck Pathol 2021 Dec;15(4):1253-1260. Epub 2021 Aug 10 doi: 10.1007/s12105-021-01371-z. PMID: 34378165Free PMC Article
Kohashi K, Kinoshita I, Oda Y
Head Neck Pathol 2020 Mar;14(1):12-20. Epub 2020 Jan 16 doi: 10.1007/s12105-019-01113-2. PMID: 31950473Free PMC Article
Pipitone S, Mongiovì M, Grillo R, Gagliano S, Sperandeo V
Ital Heart J 2002 Jan;3(1):48-52. PMID: 11899590

Recent systematic reviews

Svobodov AA, Glushko LA, Ergashov AY
Pediatr Cardiol 2022 Feb;43(2):251-266. Epub 2022 Feb 3 doi: 10.1007/s00246-022-02814-2. PMID: 35113182
Sugalska M, Tomik A, Jóźwiak S, Werner B
Int J Environ Res Public Health 2021 May 5;18(9) doi: 10.3390/ijerph18094907. PMID: 34062963Free PMC Article
Khalaf MG, Haddad R, Akiki M, Khazen J, Melkane AE
Int J Oral Maxillofac Surg 2021 Mar;50(3):327-334. Epub 2020 Aug 7 doi: 10.1016/j.ijom.2020.07.018. PMID: 32773112
Cavalcante CTMB, Pinto Junior VC, Pompeu RG, Teles ACO, Bandeira JA, Maia ICL, Tavora FRF, Cavalcante MB, Zamarian ACP, Araujo Júnior E, Castello Branco KM
J Matern Fetal Neonatal Med 2021 Jan;34(1):137-151. Epub 2019 Apr 2 doi: 10.1080/14767058.2019.1597044. PMID: 30895836
Tzani A, Doulamis IP, Mylonas KS, Avgerinos DV, Nasioudis D
World J Pediatr Congenit Heart Surg 2017 Sep;8(5):624-632. doi: 10.1177/2150135117723904. PMID: 28901236

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