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Alveolar rhabdomyosarcoma(RMS2)

MedGen UID:
61651
Concept ID:
C0206655
Neoplastic Process
Synonyms: Alveolar rhabdomyosarcoma (disease); RHABDOMYOSARCOMA 2; RMS2
SNOMED CT: Alveolar rhabdomyosarcoma (63449009); Alveolar rhabdomyosarcoma (404053004)
 
Genes (locations): FOXO1 (13q14.11); PAX3 (2q36.1); PAX7 (1p36.13)
 
HPO: HP:0006779
Monarch Initiative: MONDO:0009994
OMIM®: 268220
Orphanet: ORPHA99756

Definition

A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth pattern. The tumor usually presents in the extremities. [from NCI]

Clinical features

From HPO
Alveolar rhabdomyosarcoma
MedGen UID:
61651
Concept ID:
C0206655
Neoplastic Process
A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth pattern. The tumor usually presents in the extremities.

Conditions with this feature

Alveolar rhabdomyosarcoma
MedGen UID:
61651
Concept ID:
C0206655
Neoplastic Process
A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth pattern. The tumor usually presents in the extremities.

Professional guidelines

PubMed

Gallego S, Bernabeu D, Garrido-Pontnou M, Guillen G, Hindi N, Juan-Ribelles A, Márquez C, Mata C, Orcajo J, Ramírez G, Ramos M, Romagosa C, Ruano D, Rubio P, Vergés R, Valverde C; GEIS (Grupo Español de Investigación en Sarcomas), SEHOP (Sociedad Española de Hematología y Oncología Pediátrica)
Clin Transl Oncol 2021 Dec;23(12):2460-2473. Epub 2021 Jul 1 doi: 10.1007/s12094-021-02654-1. PMID: 34212338
Frith AE, Hirbe AC, Van Tine BA
Curr Oncol Rep 2013 Aug;15(4):378-85. doi: 10.1007/s11912-013-0319-3. PMID: 23661264
Gosiengfiao Y, Reichek J, Walterhouse D
Paediatr Drugs 2012 Dec 1;14(6):389-400. doi: 10.2165/11599440-000000000-00000. PMID: 23050743

Curated

Yu Z, Kelsey A, Alaggio R, Parham D
Eur J Hum Genet 2012 Jan;20(1) Epub 2011 Aug 10 doi: 10.1038/ejhg.2011.147. PMID: 21829230Free PMC Article

Recent clinical studies

Etiology

Danielli SG, Porpiglia E, De Micheli AJ, Navarro N, Zellinger MJ, Bechtold I, Kisele S, Volken L, Marques JG, Kasper S, Bode PK, Henssen AG, Gürgen D, Delattre O, Surdez D, Roma J, Bühlmann P, Blau HM, Wachtel M, Schäfer BW
Sci Adv 2023 Feb 10;9(6):eade9238. Epub 2023 Feb 8 doi: 10.1126/sciadv.ade9238. PMID: 36753540Free PMC Article
Fan R, Parham DM, Wang LL
Arch Pathol Lab Med 2022 Aug 1;146(8):953-959. doi: 10.5858/arpa.2021-0183-RA. PMID: 35051261
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
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
Yu PY, Guttridge DC
Curr Top Dev Biol 2018;126:285-297. Epub 2017 Oct 31 doi: 10.1016/bs.ctdb.2017.10.007. PMID: 29305002

Diagnosis

Fan R, Parham DM, Wang LL
Arch Pathol Lab Med 2022 Aug 1;146(8):953-959. doi: 10.5858/arpa.2021-0183-RA. PMID: 35051261
Sbaraglia M, Righi A, Gambarotti M, Dei Tos AP
Virchows Arch 2020 Jan;476(1):109-119. Epub 2019 Dec 4 doi: 10.1007/s00428-019-02720-8. PMID: 31802230
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
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
Katoh M, Nakagama H
Med Res Rev 2014 Mar;34(2):280-300. Epub 2013 May 21 doi: 10.1002/med.21288. PMID: 23696246

Therapy

Danielli SG, Porpiglia E, De Micheli AJ, Navarro N, Zellinger MJ, Bechtold I, Kisele S, Volken L, Marques JG, Kasper S, Bode PK, Henssen AG, Gürgen D, Delattre O, Surdez D, Roma J, Bühlmann P, Blau HM, Wachtel M, Schäfer BW
Sci Adv 2023 Feb 10;9(6):eade9238. Epub 2023 Feb 8 doi: 10.1126/sciadv.ade9238. PMID: 36753540Free PMC Article
Singh S, Abu-Zaid A, Jin H, Fang J, Wu Q, Wang T, Feng H, Quarni W, Shao Y, Maxham L, Abdolvahabi A, Yun MK, Vaithiyalingam S, Tan H, Bowling J, Honnell V, Young B, Guo Y, Bajpai R, Pruett-Miller SM, Grosveld GC, Hatley M, Xu B, Fan Y, Wu G, Chen EY, Chen T, Lewis PW, Rankovic Z, Li Y, Murphy AJ, Easton J, Peng J, Chen X, Wang R, White SW, Davidoff AM, Yang J
Sci Transl Med 2022 Jul 13;14(653):eabq2096. doi: 10.1126/scitranslmed.abq2096. PMID: 35857643Free PMC Article
Bisogno G, De Salvo GL, Bergeron C, Gallego Melcón S, Merks JH, Kelsey A, Martelli H, Minard-Colin V, Orbach D, Glosli H, Chisholm J, Casanova M, Zanetti I, Devalck C, Ben-Arush M, Mudry P, Ferman S, Jenney M, Ferrari A; European paediatric Soft tissue sarcoma Study Group
Lancet Oncol 2019 Nov;20(11):1566-1575. Epub 2019 Sep 24 doi: 10.1016/S1470-2045(19)30617-5. PMID: 31562043
Lu H, Qin J, Wang Z
Clin Lab 2017 Oct 1;63(10):1745-1748. doi: 10.7754/Clin.Lab.2017.170529. PMID: 29035460
Katoh M, Nakagama H
Med Res Rev 2014 Mar;34(2):280-300. Epub 2013 May 21 doi: 10.1002/med.21288. PMID: 23696246

Prognosis

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
Sbaraglia M, Righi A, Gambarotti M, Dei Tos AP
Virchows Arch 2020 Jan;476(1):109-119. Epub 2019 Dec 4 doi: 10.1007/s00428-019-02720-8. PMID: 31802230
Jawad N, McHugh K
Pediatr Radiol 2019 Oct;49(11):1516-1523. Epub 2019 Oct 16 doi: 10.1007/s00247-019-04386-5. PMID: 31620851
Yu PY, Guttridge DC
Curr Top Dev Biol 2018;126:285-297. Epub 2017 Oct 31 doi: 10.1016/bs.ctdb.2017.10.007. PMID: 29305002
Lu H, Qin J, Wang Z
Clin Lab 2017 Oct 1;63(10):1745-1748. doi: 10.7754/Clin.Lab.2017.170529. PMID: 29035460

Clinical prediction guides

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
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
Sbaraglia M, Righi A, Gambarotti M, Dei Tos AP
Virchows Arch 2020 Jan;476(1):109-119. Epub 2019 Dec 4 doi: 10.1007/s00428-019-02720-8. PMID: 31802230
Dziuba I, Kurzawa P, Dopierała M, Larque AB, Januszkiewicz-Lewandowska D
Pol J Pathol 2018;69(1):20-32. doi: 10.5114/pjp.2018.75333. PMID: 29895123
Parham DM, Barr FG
Adv Anat Pathol 2013 Nov;20(6):387-97. doi: 10.1097/PAP.0b013e3182a92d0d. PMID: 24113309Free PMC Article

Recent systematic reviews

Freycon C, Lupo PJ, Witkowski L, Budd C, Foulkes WD, Goudie C
Pediatr Blood Cancer 2023 Nov;70(11):e30651. Epub 2023 Aug 28 doi: 10.1002/pbc.30651. PMID: 37638828
Barthère X, Guillerm S, Quero L, Le Maignan C, Torossian N, Verillaud B, Itti R, Hennequin C
Cancer Radiother 2020 Dec;24(8):870-875. Epub 2020 Nov 7 doi: 10.1016/j.canrad.2020.03.015. PMID: 33172776
Zajonz TS, Padberg W, Mann STW, Gehron J, Sander M, Mann V
A A Pract 2020 Jan 1;14(1):1-5. doi: 10.1213/XAA.0000000000001122. PMID: 31651415
Zhang Q, Wang Q, Sun W, Gao F, Liu L, Cheng L, Li Z
Biomed Res Int 2018;2018:6124927. Epub 2018 Nov 25 doi: 10.1155/2018/6124927. PMID: 30596096Free PMC Article
Kubo T, Shimose S, Fujimori J, Furuta T, Ochi M
Crit Rev Oncol Hematol 2015 Oct;96(1):46-53. Epub 2015 May 14 doi: 10.1016/j.critrevonc.2015.04.012. PMID: 26008753

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