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Rhabdomyosarcoma, embryonal, 2(RMSE2)

MedGen UID:
357232
Concept ID:
C1867234
Neoplastic Process
Synonym: RMSE2
 
Gene (location): DICER1 (14q32.13)
 
Monarch Initiative: MONDO:0859046
OMIM®: 180295

Disease characteristics

Excerpted from the GeneReview: DICER1 Tumor Predisposition
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). [from GeneReviews]
Authors:
Kris Ann P Schultz  |  Douglas R Stewart  |  Junne Kamihara, et. al.   view full author information

Clinical features

From HPO
Nephroblastoma
MedGen UID:
10221
Concept ID:
C0027708
Neoplastic Process
The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.
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.
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).
Ovarian thecoma
MedGen UID:
364155
Concept ID:
C1882229
Neoplastic Process
A sex cord-stromal tumor of the ovary. Thecomas range from small tumors to large solid or solid-cystic masses of up to 15 cm. They are unilateral in over 90 percent of cases and are rarely malignant. Thecomas are stromal tumors made up of cells that resemble theca cells, lutein cells and fibroblasts. They are traditionally classified within the sex cord-stromal tumor category of ovarian tumor types.
Goiter
MedGen UID:
42270
Concept ID:
C0018021
Disease or Syndrome
An enlargement of the thyroid gland.
Thyroid nodule
MedGen UID:
21547
Concept ID:
C0040137
Neoplastic Process
A nodular lesion that develops in the thyroid gland. The term "thyroid nodule" refers to any abnormal growth that forms a lump in the thyroid gland.
Multinodular goiter
MedGen UID:
87431
Concept ID:
C0342208
Disease or Syndrome
Enlargement of the thyroid gland related to multiple nodules in the thyroid gland.

Professional guidelines

PubMed

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
Arnold MA, Barr FG
Expert Rev Mol Diagn 2017 Feb;17(2):189-194. Epub 2017 Jan 6 doi: 10.1080/14737159.2017.1275965. PMID: 28058850Free PMC Article
Hosoi H
Pediatr Int 2016 Feb;58(2):81-7. doi: 10.1111/ped.12867. PMID: 26646016

Recent clinical studies

Etiology

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
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
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
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

Diagnosis

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
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
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
Herrera JM, Krebs A, Harris P, Barriga F
Surg Clin North Am 2000 Apr;80(2):747-60, xii. doi: 10.1016/s0039-6109(05)70210-3. PMID: 10836015

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
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
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
Arndt CA, Stoner JA, Hawkins DS, Rodeberg DA, Hayes-Jordan AA, Paidas CN, Parham DM, Teot LA, Wharam MD, Breneman JC, Donaldson SS, Anderson JR, Meyer WH
J Clin Oncol 2009 Nov 1;27(31):5182-8. Epub 2009 Sep 21 doi: 10.1200/JCO.2009.22.3768. PMID: 19770373Free PMC Article
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

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
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
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
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
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

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
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
Monti E, Fanzani A
Cell Cycle 2016;15(2):184-95. doi: 10.1080/15384101.2015.1071746. PMID: 26209235Free PMC Article

Recent systematic reviews

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
Gallagher KPD, van Heerden W, Said-Al-Naief N, Carlos R, Arboleda LPA, Rodrigues-Fernandes CI, Araújo ALD, Fonseca FP, Pontes HAR, Innocentini LMAR, Romañach MJ, Vargas PA, Lopes MA, Santos-Silva AR, Khurram SA
Oral Surg Oral Med Oral Pathol Oral Radiol 2022 Sep;134(3):354-366. Epub 2021 Dec 25 doi: 10.1016/j.oooo.2021.12.128. PMID: 35840496
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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