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Embryonal rhabdomyosarcoma(ERMS)

MedGen UID:
104910
Concept ID:
C0206656
Neoplastic Process
Synonyms: Botryoid rhabdomyosarcoma (type of ERMS); ERMS; Spindle cell rhabdomyosarcomas (type of ERMS)
SNOMED CT: Embryonal rhabdomyosarcoma (404051002); Embryonal rhabdomyosarcoma (14269005)
 
HPO: HP:0006743
Monarch Initiative: MONDO:0009993
Orphanet: ORPHA99757

Definition

A poorly circumscribed morphologic variant of rhabdomyosarcoma. It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis. [from NCI]

Conditions with this feature

Rhabdomyosarcoma 1
MedGen UID:
340307
Concept ID:
C1849385
Neoplastic Process
Mosaic variegated aneuploidy syndrome 1
MedGen UID:
338026
Concept ID:
C1850343
Disease or Syndrome
Mosaic variegated aneuploidy (MVA) syndrome is a rare disorder in which some cells in the body have an abnormal number of chromosomes instead of the usual 46 chromosomes, a situation known as aneuploidy. Most commonly, cells have an extra chromosome, which is called trisomy, or are missing a chromosome, which is known as monosomy. In MVA syndrome, some cells are aneuploid and others have the normal number of chromosomes, which is a phenomenon known as mosaicism. Typically, at least one-quarter of cells in affected individuals have an abnormal number of chromosomes. Because the additional or missing chromosomes vary among the abnormal cells, the aneuploidy is described as variegated.\n\nThere are at least three types of MVA syndrome, each with a different genetic cause. Type 1 is the most common and displays the classic signs and symptoms described above. Type 2 appears to have slightly different signs and symptoms than type 1, although the small number of affected individuals makes it difficult to define its characteristic features. Individuals with MVA syndrome type 2 grow slowly before and after birth; however, their head size is typically normal. Some people with MVA syndrome type 2 have unusually short arms. Individuals with MVA syndrome type 2 do not seem to have an increased risk of cancer. Another form of MVA syndrome is characterized by a high risk of developing Wilms tumor. Individuals with this form may also have other signs and symptoms typical of MVA syndrome type 1.\n\nIn MVA syndrome, growth before birth is slow (intrauterine growth restriction). After birth, affected individuals continue to grow at a slow rate and are shorter than average. In addition, they typically have an unusually small head size (microcephaly). Another common feature of MVA syndrome is an increased risk of developing cancer in childhood. Cancers that occur most frequently in affected individuals include a cancer of muscle tissue called rhabdomyosarcoma, a form of kidney cancer known as Wilms tumor, and a cancer of the blood-forming tissue known as leukemia.\n\nLess commonly, people with MVA syndrome have eye abnormalities or distinctive facial features, such as a broad nasal bridge and low-set ears. Some affected individuals have brain abnormalities, the most common of which is called Dandy-Walker malformation. Intellectual disability, seizures, and other health problems can also occur in people with MVA syndrome.
Rhabdomyosarcoma, embryonal, 2
MedGen UID:
357232
Concept ID:
C1867234
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).
Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition
MedGen UID:
1824057
Concept ID:
C5774284
Disease or Syndrome
Mosaic variegated aneuploidy syndrome-7 with inflammation and tumor predisposition (MVA7) is an autosomal recessive disorder characterized by increased susceptibility to benign and malignant neoplasms beginning in early childhood. Affected individuals show dysmorphic facies and may have early developmental delay. Patient cells show a high level of aneuploidy due to defects in cell division (Villarroya-Beltri et al., 2022). For a discussion of genetic heterogeneity of MVA, see MVA1 (257300).

Professional guidelines

PubMed

Devins KM, Young RH, Ghioni M, Burandt E, Bennett JA, Oliva E
Am J Surg Pathol 2022 Nov 1;46(11):1477-1489. Epub 2022 Aug 9 doi: 10.1097/PAS.0000000000001933. PMID: 35941719
Han LM, Weiel JJ, Longacre TA, Folkins AK
Adv Anat Pathol 2022 Sep 1;29(5):297-308. Epub 2022 Jul 1 doi: 10.1097/PAP.0000000000000351. PMID: 35778792
van Erp AEM, Versleijen-Jonkers YMH, van der Graaf WTA, Fleuren EDG
Mol Cancer Ther 2018 Jul;17(7):1365-1380. doi: 10.1158/1535-7163.MCT-17-1131. PMID: 29967215

Recent clinical studies

Etiology

Croce S, Devouassoux-Shisheboran M, Pautier P, Ray-Coquard I, Treilleux I, Neuville A, Arnould L, Just PA, Belda MALF, Averous G, Leroux A, Mery E, Loussouarn D, Weinbreck N, Le Guellec S, Mishellany F, Morice P, Guyon F, Genestie C
Gynecol Oncol 2022 Nov;167(2):373-389. Epub 2022 Sep 14 doi: 10.1016/j.ygyno.2022.07.031. PMID: 36114030
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
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
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
Schultz KAP, Williams GM, Kamihara J, Stewart DR, Harris AK, Bauer AJ, Turner J, Shah R, Schneider K, Schneider KW, Carr AG, Harney LA, Baldinger S, Frazier AL, Orbach D, Schneider DT, Malkin D, Dehner LP, Messinger YH, Hill DA
Clin Cancer Res 2018 May 15;24(10):2251-2261. Epub 2018 Jan 17 doi: 10.1158/1078-0432.CCR-17-3089. PMID: 29343557Free PMC Article

Diagnosis

Devins KM, Young RH, Ghioni M, Burandt E, Bennett JA, Oliva E
Am J Surg Pathol 2022 Nov 1;46(11):1477-1489. Epub 2022 Aug 9 doi: 10.1097/PAS.0000000000001933. PMID: 35941719
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
Arredondo Montero J, Bronte Anaut M, Hernández-Martín S, López-Gutiérrez JC
World J Pediatr 2022 May;18(5):358-360. Epub 2022 Feb 11 doi: 10.1007/s12519-022-00521-9. PMID: 35149982
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
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

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
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
Bharathy N, Berlow NE, Wang E, Abraham J, Settelmeyer TP, Hooper JE, Svalina MN, Bajwa Z, Goros MW, Hernandez BS, Wolff JE, Pal R, Davies AM, Ashok A, Bushby D, Mancini M, Noakes C, Goodwin NC, Ordentlich P, Keck J, Hawkins DS, Rudzinski ER, Mansoor A, Perkins TJ, Vakoc CR, Michalek JE, Keller C
Skelet Muscle 2019 May 21;9(1):12. doi: 10.1186/s13395-019-0198-x. PMID: 31113472Free PMC Article
van Erp AEM, Versleijen-Jonkers YMH, van der Graaf WTA, Fleuren EDG
Mol Cancer Ther 2018 Jul;17(7):1365-1380. doi: 10.1158/1535-7163.MCT-17-1131. PMID: 29967215

Prognosis

Devins KM, Young RH, Ghioni M, Burandt E, Bennett JA, Oliva E
Am J Surg Pathol 2022 Nov 1;46(11):1477-1489. Epub 2022 Aug 9 doi: 10.1097/PAS.0000000000001933. PMID: 35941719
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
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
Yahaya JJ, Mremi A
J Med Case Rep 2021 Jan 31;15(1):37. doi: 10.1186/s13256-020-02599-z. PMID: 33516251Free PMC Article
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

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
Croce S, Devouassoux-Shisheboran M, Pautier P, Ray-Coquard I, Treilleux I, Neuville A, Arnould L, Just PA, Belda MALF, Averous G, Leroux A, Mery E, Loussouarn D, Weinbreck N, Le Guellec S, Mishellany F, Morice P, Guyon F, Genestie C
Gynecol Oncol 2022 Nov;167(2):373-389. Epub 2022 Sep 14 doi: 10.1016/j.ygyno.2022.07.031. PMID: 36114030
Devins KM, Young RH, Ghioni M, Burandt E, Bennett JA, Oliva E
Am J Surg Pathol 2022 Nov 1;46(11):1477-1489. Epub 2022 Aug 9 doi: 10.1097/PAS.0000000000001933. PMID: 35941719
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
Hořínová V, Drábová K, Nosková H, Bajčiová V, Šoukalová J, Černá L, Hůrková V, Slabý O, Štěrba J
Klin Onkol 2019 Summer;32(Supplementum2):123-127. doi: 10.14735/amko2019S123. PMID: 31409088

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
Kubota Y, Tanaka K, Kawano M, Iwasaki T, Itonaga I, Tsumura H
Sci Rep 2022 Nov 12;12(1):19381. doi: 10.1038/s41598-022-23944-w. PMID: 36371419Free PMC Article
Tanaka R, Inoue K, Yamada Y, Yoshida M, Shima H, Ito J, Okita H, Miwa T, Kato M, Shimada H
J Neurooncol 2021 Sep;154(2):247-256. Epub 2021 Aug 16 doi: 10.1007/s11060-021-03823-6. PMID: 34398431
Song Y, Liu Y, Lin M, Sheng B, Zhu X
Drug Des Devel Ther 2019;13:79-102. Epub 2018 Dec 19 doi: 10.2147/DDDT.S186966. PMID: 30587930Free PMC Article

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