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Rhabdoid tumor of the kidney

MedGen UID:
208930
Concept ID:
C0854917
Neoplastic Process
Synonyms: kidney rhabdoid cancer; Kidney Rhabdoid Tumor; kidney rhabdoid tumor; kidney rhabdoid tumour; Malignant Rhabdoid Tumor of Kidney; malignant rhabdoid tumor of kidney; Malignant Rhabdoid Tumor of the Kidney; malignant rhabdoid tumor of the kidney; Malignant rhabdoid tumor of the kidney; malignant rhabdoid tumour of kidney; malignant rhabdoid tumour of the kidney; Malignant rhabdoid tumour of the kidney; MRTK; Renal Rhabdoid Neoplasm; renal rhabdoid neoplasm; Renal Rhabdoid Tumor; renal rhabdoid tumor; renal rhabdoid tumour; Rhabdoid Neoplasm of Kidney; rhabdoid neoplasm of kidney; Rhabdoid Neoplasm of the Kidney; rhabdoid neoplasm of the kidney; rhabdoid tumor of kidney; Rhabdoid Tumor of the Kidney; rhabdoid tumor of the kidney; Rhabdoid Tumor of the Kidney (RTK); rhabdoid tumor of the kidney (RTK); Rhabdoid Tumour of Kidney; rhabdoid tumour of kidney; Rhabdoid Tumour of the Kidney; rhabdoid tumour of the kidney (RTK)
 
HPO: HP:0034402
Monarch Initiative: MONDO:0002729

Definition

A highly aggressive, extremely rare neoplasm of the kidney that is usually seen in children. The term rhabdoid is used because the tumor cells resemble rhabdomyoblasts but lack myogenic markers, and pathologic diagnosis requires familiarity with these microscopic features plus awareness that adult onset is possible. It can be associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. [from HPO]

Term Hierarchy

Conditions with this feature

Rhabdoid tumor predisposition syndrome 2
MedGen UID:
413749
Concept ID:
C2750074
Disease or Syndrome
Rhabdoid tumor predisposition syndrome-2 is an autosomal dominant cancer predisposition syndrome characterized by the onset in infancy, childhood, or young adulthood of various poorly differentiated tumors. Classically, tumors that arise in the central nervous system are referred to as atypical teratoid/rhabdoid tumors, whereas those arising in the kidney or other extracranial sites are referred to as malignant rhabdoid tumors. Tumors may also present as small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), also known as malignant rhabdoid tumor of the ovary (MRTO). All of these tumors are highly aggressive and often fatal (summary by Foulkes et al., 2014). See also RTPS1 (609322), which is caused by mutation in the SMARCB1 gene (601607) on chromosome 22q11.

Professional guidelines

PubMed

Kobayashi R, Inoue M, Takahashi Y, Kikuta A, Ogawa A, Koga Y, Koh K, Hashii Y, Hara J, Kato K, Tabuchi K, Matsumoto K
J Pediatr Hematol Oncol 2020 May;42(4):251-255. doi: 10.1097/MPH.0000000000001779. PMID: 32134841
Oue T, Fukuzawa M, Koshinaga T, Okita H, Nozaki M, Chin M, Kaneko Y, Tanaka Y, Haruta M, Tsuchiya K, Kuwajima S, Takimoto T
Pediatr Int 2015 Oct;57(5):828-31. doi: 10.1111/ped.12787. PMID: 26267611
Furtwängler R, Nourkami-Tutdibi N, Leuschner I, Vokuhl C, Niggli F, Kager L, Ebinger M, Frühwald MC, Graf N; GPOH Nephroblastoma Study Committee
Cancer Genet 2014 Sep;207(9):434-6. Epub 2014 Jul 18 doi: 10.1016/j.cancergen.2014.07.001. PMID: 25242089

Recent clinical studies

Etiology

Hong Y, Que Y, Hu Y, Shi BY, Zhu J, Wang J, Huang JT, Sun FF, Zhang L, Zhou XK, Lu SY, Zhang YZ
Dis Markers 2022;2022:4752184. Epub 2022 Jun 15 doi: 10.1155/2022/4752184. PMID: 35756490Free PMC Article
Sherif S, Roelands J, Mifsud W, Ahmed EI, Raynaud CM, Rinchai D, Sathappan A, Maaz A, Saleh A, Ozer E, Fakhro KA, Mifsud B, Thorsson V, Bedognetti D, Hendrickx WRL
J Exp Clin Cancer Res 2022 Jun 11;41(1):199. doi: 10.1186/s13046-022-02397-z. PMID: 35690832Free PMC Article
Chen H, Lu S, Guan J, Zhu X, Sun F, Huang J, Zhu J, Wang J, Zhen Z, Que Y, Sun X, Zhang Y
Aging (Albany NY) 2021 Feb 11;13(4):5461-5474. doi: 10.18632/aging.202475. PMID: 33588380Free PMC Article
Oue T, Fukuzawa M, Koshinaga T, Okita H, Nozaki M, Chin M, Kaneko Y, Tanaka Y, Haruta M, Tsuchiya K, Kuwajima S, Takimoto T
Pediatr Int 2015 Oct;57(5):828-31. doi: 10.1111/ped.12787. PMID: 26267611
Amar AM, Tomlinson G, Green DM, Breslow NE, de Alarcon PA
J Pediatr Hematol Oncol 2001 Feb;23(2):105-8. doi: 10.1097/00043426-200102000-00007. PMID: 11216700

Diagnosis

Walz AL, Maschietto M, Crompton B, Evageliou N, Dix D, Tytgat G, Gessler M, Gisselsson D, Daw NC, Wegert J
Pediatr Blood Cancer 2023 May;70 Suppl 2:e30130. Epub 2023 Jan 2 doi: 10.1002/pbc.30130. PMID: 36592003
Sze SK
Clin Perinatol 2021 Mar;48(1):71-81. Epub 2021 Jan 11 doi: 10.1016/j.clp.2020.11.004. PMID: 33583508
Chong WC, Cain JE
Anat Rec (Hoboken) 2020 Oct;303(10):2561-2577. Epub 2019 Nov 18 doi: 10.1002/ar.24315. PMID: 31738020
Royer-Pokora B
Pediatr Nephrol 2013 Jan;28(1):13-23. Epub 2012 Mar 30 doi: 10.1007/s00467-012-2146-4. PMID: 22461142
Shamberger RC
Semin Surg Oncol 1999 Mar;16(2):105-20. doi: 10.1002/(sici)1098-2388(199903)16:2<105::aid-ssu4>3.0.co;2-t. PMID: 9988867

Therapy

Xiao Z, Lu W, Dong A, Wang Y
Clin Nucl Med 2023 Jul 1;48(7):635-637. Epub 2023 May 19 doi: 10.1097/RLU.0000000000004657. PMID: 37200409
Furtwängler R, Kager L, Melchior P, Rübe C, Ebinger M, Nourkami-Tutdibi N, Niggli F, Warmann S, Hubertus J, Amman G, Leuschner I, Vokuhl C, Graf N, Frühwald MC
Pediatr Blood Cancer 2018 Jan;65(1) Epub 2017 Aug 26 doi: 10.1002/pbc.26746. PMID: 28843054
Oue T, Fukuzawa M, Koshinaga T, Okita H, Nozaki M, Chin M, Kaneko Y, Tanaka Y, Haruta M, Tsuchiya K, Kuwajima S, Takimoto T
Pediatr Int 2015 Oct;57(5):828-31. doi: 10.1111/ped.12787. PMID: 26267611
Furtwängler R, Nourkami-Tutdibi N, Leuschner I, Vokuhl C, Niggli F, Kager L, Ebinger M, Frühwald MC, Graf N; GPOH Nephroblastoma Study Committee
Cancer Genet 2014 Sep;207(9):434-6. Epub 2014 Jul 18 doi: 10.1016/j.cancergen.2014.07.001. PMID: 25242089
Tomlinson GE, Breslow NE, Dome J, Guthrie KA, Norkool P, Li S, Thomas PR, Perlman E, Beckwith JB, D'Angio GJ, Green DM
J Clin Oncol 2005 Oct 20;23(30):7641-5. doi: 10.1200/JCO.2004.00.8110. PMID: 16234525

Prognosis

Walz AL, Maschietto M, Crompton B, Evageliou N, Dix D, Tytgat G, Gessler M, Gisselsson D, Daw NC, Wegert J
Pediatr Blood Cancer 2023 May;70 Suppl 2:e30130. Epub 2023 Jan 2 doi: 10.1002/pbc.30130. PMID: 36592003
Sherif S, Roelands J, Mifsud W, Ahmed EI, Raynaud CM, Rinchai D, Sathappan A, Maaz A, Saleh A, Ozer E, Fakhro KA, Mifsud B, Thorsson V, Bedognetti D, Hendrickx WRL
J Exp Clin Cancer Res 2022 Jun 11;41(1):199. doi: 10.1186/s13046-022-02397-z. PMID: 35690832Free PMC Article
Uwineza A, Gill H, Buckley P, Owens C, Capra M, O'Sullivan C, McDermott M, Brett F, Farrell M, Pears J, O'Sullivan MJ
Cancer Genet 2014 Sep;207(9):398-402. Epub 2014 Jun 11 doi: 10.1016/j.cancergen.2014.05.015. PMID: 25085603
Amar AM, Tomlinson G, Green DM, Breslow NE, de Alarcon PA
J Pediatr Hematol Oncol 2001 Feb;23(2):105-8. doi: 10.1097/00043426-200102000-00007. PMID: 11216700
Shamberger RC
Semin Surg Oncol 1999 Mar;16(2):105-20. doi: 10.1002/(sici)1098-2388(199903)16:2<105::aid-ssu4>3.0.co;2-t. PMID: 9988867

Clinical prediction guides

Liu J, Mi T, Zhang Z, Jin L, Li M, Zhanghuang C, Li M, Wang J, Wu X, Wang Z, Tan X, Wang Z, He D
Eur J Pharmacol 2023 Jul 15;951:175747. Epub 2023 May 2 doi: 10.1016/j.ejphar.2023.175747. PMID: 37142086
Hong Y, Que Y, Hu Y, Shi BY, Zhu J, Wang J, Huang JT, Sun FF, Zhang L, Zhou XK, Lu SY, Zhang YZ
Dis Markers 2022;2022:4752184. Epub 2022 Jun 15 doi: 10.1155/2022/4752184. PMID: 35756490Free PMC Article
Sherif S, Roelands J, Mifsud W, Ahmed EI, Raynaud CM, Rinchai D, Sathappan A, Maaz A, Saleh A, Ozer E, Fakhro KA, Mifsud B, Thorsson V, Bedognetti D, Hendrickx WRL
J Exp Clin Cancer Res 2022 Jun 11;41(1):199. doi: 10.1186/s13046-022-02397-z. PMID: 35690832Free PMC Article
Oue T, Fukuzawa M, Koshinaga T, Okita H, Nozaki M, Chin M, Kaneko Y, Tanaka Y, Haruta M, Tsuchiya K, Kuwajima S, Takimoto T
Pediatr Int 2015 Oct;57(5):828-31. doi: 10.1111/ped.12787. PMID: 26267611
Royer-Pokora B
Pediatr Nephrol 2013 Jan;28(1):13-23. Epub 2012 Mar 30 doi: 10.1007/s00467-012-2146-4. PMID: 22461142

Recent systematic reviews

Xie S, Fang Y, Yang Y, Liu L, Bai J, Lin S, Zhang B, Fang Y
Eur J Pediatr 2024 Feb;183(2):557-567. Epub 2023 Nov 29 doi: 10.1007/s00431-023-05345-x. PMID: 38019286

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