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Intermediate cell type uveal melanoma

MedGen UID:
76016
•Concept ID:
C0279693
•
Neoplastic Process
Synonyms: Intermediate Cell Type Intraocular Melanoma; Intermediate cell type intraocular melanoma; Intermediate Cell Type Uveal Melanoma; intermediate cell type uveal melanoma; intraocular mixed cell type melanoma; mixed cell type uveal melanoma; Uveal Intermediate Cell Type Melanoma
 
Monarch Initiative: MONDO:0004062

Definition

Uveal melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIntermediate cell type uveal melanoma

Recent clinical studies

Etiology

Uveal melanoma: Towards a molecular understanding.
Smit KN, Jager MJ, de Klein A, Kiliҫ E
Prog Retin Eye Res 2020 Mar;75:100800. Epub 2019 Sep 26 doi: 10.1016/j.preteyeres.2019.100800. PMID: 31563544
Replacement and desmoplastic histopathological growth patterns: A pilot study of prediction of outcome in patients with uveal melanoma liver metastases.
Barnhill R, Vermeulen P, Daelemans S, van Dam PJ, Roman-Roman S, Servois V, Hurbain I, Gardrat S, Raposa G, Nicolas A, Dendale R, Pierron G, Desjardins L, Cassoux N, Piperno-Neumann S, Mariani P, Lugassy C
J Pathol Clin Res 2018 Oct;4(4):227-240. Epub 2018 Aug 23 doi: 10.1002/cjp2.105. PMID: 29917326Free PMC Article
Nestin expression in primary and metastatic uveal melanoma - possible biomarker for high-risk uveal melanoma.
Djirackor L, Shakir D, Kalirai H, Petrovski G, Coupland SE
Acta Ophthalmol 2018 Aug;96(5):503-509. Epub 2018 Jan 16 doi: 10.1111/aos.13645. PMID: 29338117
Genome-wide profiling is a clinically relevant and affordable prognostic test in posterior uveal melanoma.
Cassoux N, Rodrigues MJ, Plancher C, Asselain B, Levy-Gabriel C, Lumbroso-Le Rouic L, Piperno-Neumann S, Dendale R, Sastre X, Desjardins L, Couturier J
Br J Ophthalmol 2014 Jun;98(6):769-74. Epub 2013 Oct 29 doi: 10.1136/bjophthalmol-2013-303867. PMID: 24169649Free PMC Article
Transcriptional profiling of human uveal melanoma from cell lines to intraocular tumors to metastasis.
Marshall JC, Nantel A, Blanco P, Ash J, Cruess SR, Burnier MN Jr
Clin Exp Metastasis 2007;24(5):353-62. Epub 2007 May 9 doi: 10.1007/s10585-007-9072-z. PMID: 17487557

Diagnosis

Replacement and desmoplastic histopathological growth patterns: A pilot study of prediction of outcome in patients with uveal melanoma liver metastases.
Barnhill R, Vermeulen P, Daelemans S, van Dam PJ, Roman-Roman S, Servois V, Hurbain I, Gardrat S, Raposa G, Nicolas A, Dendale R, Pierron G, Desjardins L, Cassoux N, Piperno-Neumann S, Mariani P, Lugassy C
J Pathol Clin Res 2018 Oct;4(4):227-240. Epub 2018 Aug 23 doi: 10.1002/cjp2.105. PMID: 29917326Free PMC Article
Nestin expression in primary and metastatic uveal melanoma - possible biomarker for high-risk uveal melanoma.
Djirackor L, Shakir D, Kalirai H, Petrovski G, Coupland SE
Acta Ophthalmol 2018 Aug;96(5):503-509. Epub 2018 Jan 16 doi: 10.1111/aos.13645. PMID: 29338117
Combined mutation and copy-number variation detection by targeted next-generation sequencing in uveal melanoma.
Smit KN, van Poppelen NM, Vaarwater J, Verdijk R, van Marion R, Kalirai H, Coupland SE, Thornton S, Farquhar N, Dubbink HJ, Paridaens D, de Klein A, Kiliç E
Mod Pathol 2018 May;31(5):763-771. Epub 2018 Jan 12 doi: 10.1038/modpathol.2017.187. PMID: 29327717
Genome-wide profiling is a clinically relevant and affordable prognostic test in posterior uveal melanoma.
Cassoux N, Rodrigues MJ, Plancher C, Asselain B, Levy-Gabriel C, Lumbroso-Le Rouic L, Piperno-Neumann S, Dendale R, Sastre X, Desjardins L, Couturier J
Br J Ophthalmol 2014 Jun;98(6):769-74. Epub 2013 Oct 29 doi: 10.1136/bjophthalmol-2013-303867. PMID: 24169649Free PMC Article
Microcirculation and tumor-infiltrating macrophages in choroidal and ciliary body melanoma and corresponding metastases.
Toivonen P, Mäkitie T, Kujala E, Kivelä T
Invest Ophthalmol Vis Sci 2004 Jan;45(1):1-6. doi: 10.1167/iovs.03-0622. PMID: 14691146

Therapy

Prognostic nomogram for progression-free survival in patients with BRCA mutations and platinum-sensitive recurrent ovarian cancer on maintenance olaparib therapy following response to chemotherapy.
Tjokrowidjaja A, Friedlander M, Lord SJ, Asher R, Rodrigues M, Ledermann JA, Matulonis UA, Oza AM, Bruchim I, Huzarski T, Gourley C, Harter P, Vergote I, Scott CL, Meier W, Shapira-Frommer R, Milenkova T, Pujade-Lauraine E, Gebski V, Lee CK
Eur J Cancer 2021 Sep;154:190-200. Epub 2021 Jul 19 doi: 10.1016/j.ejca.2021.06.024. PMID: 34293664
Epigenetic regulation of p14ARF and p16INK4A expression in cutaneous and uveal melanoma.
Venza M, Visalli M, Biondo C, Lentini M, Catalano T, Teti D, Venza I
Biochim Biophys Acta 2015 Mar;1849(3):247-56. Epub 2014 Dec 11 doi: 10.1016/j.bbagrm.2014.12.004. PMID: 25497382

Prognosis

Oncogenic Gq/11 signaling acutely drives and chronically sustains metabolic reprogramming in uveal melanoma.
Onken MD, Noda SE, Kaltenbronn KM, Frankfater C, Makepeace CM, Fettig N, Piggott KD, Custer PL, Ippolito JE, Blumer KJ
J Biol Chem 2022 Jan;298(1):101495. Epub 2021 Dec 14 doi: 10.1016/j.jbc.2021.101495. PMID: 34919964Free PMC Article
Uveal melanoma: Towards a molecular understanding.
Smit KN, Jager MJ, de Klein A, Kiliҫ E
Prog Retin Eye Res 2020 Mar;75:100800. Epub 2019 Sep 26 doi: 10.1016/j.preteyeres.2019.100800. PMID: 31563544
Nestin expression in primary and metastatic uveal melanoma - possible biomarker for high-risk uveal melanoma.
Djirackor L, Shakir D, Kalirai H, Petrovski G, Coupland SE
Acta Ophthalmol 2018 Aug;96(5):503-509. Epub 2018 Jan 16 doi: 10.1111/aos.13645. PMID: 29338117
Combined mutation and copy-number variation detection by targeted next-generation sequencing in uveal melanoma.
Smit KN, van Poppelen NM, Vaarwater J, Verdijk R, van Marion R, Kalirai H, Coupland SE, Thornton S, Farquhar N, Dubbink HJ, Paridaens D, de Klein A, Kiliç E
Mod Pathol 2018 May;31(5):763-771. Epub 2018 Jan 12 doi: 10.1038/modpathol.2017.187. PMID: 29327717
Biologic determinants of uveal melanoma metastatic phenotype: role of intermediate filaments as predictive markers.
Hendrix MJ, Seftor EA, Seftor RE, Gardner LM, Boldt HC, Meyer M, Pe'er J, Folberg R
Lab Invest 1998 Feb;78(2):153-63. PMID: 9484713

Clinical prediction guides

Uveal melanoma: Towards a molecular understanding.
Smit KN, Jager MJ, de Klein A, Kiliҫ E
Prog Retin Eye Res 2020 Mar;75:100800. Epub 2019 Sep 26 doi: 10.1016/j.preteyeres.2019.100800. PMID: 31563544
Nestin expression in primary and metastatic uveal melanoma - possible biomarker for high-risk uveal melanoma.
Djirackor L, Shakir D, Kalirai H, Petrovski G, Coupland SE
Acta Ophthalmol 2018 Aug;96(5):503-509. Epub 2018 Jan 16 doi: 10.1111/aos.13645. PMID: 29338117
Combined mutation and copy-number variation detection by targeted next-generation sequencing in uveal melanoma.
Smit KN, van Poppelen NM, Vaarwater J, Verdijk R, van Marion R, Kalirai H, Coupland SE, Thornton S, Farquhar N, Dubbink HJ, Paridaens D, de Klein A, Kiliç E
Mod Pathol 2018 May;31(5):763-771. Epub 2018 Jan 12 doi: 10.1038/modpathol.2017.187. PMID: 29327717
Transcriptional profiling of human uveal melanoma from cell lines to intraocular tumors to metastasis.
Marshall JC, Nantel A, Blanco P, Ash J, Cruess SR, Burnier MN Jr
Clin Exp Metastasis 2007;24(5):353-62. Epub 2007 May 9 doi: 10.1007/s10585-007-9072-z. PMID: 17487557
Biologic determinants of uveal melanoma metastatic phenotype: role of intermediate filaments as predictive markers.
Hendrix MJ, Seftor EA, Seftor RE, Gardner LM, Boldt HC, Meyer M, Pe'er J, Folberg R
Lab Invest 1998 Feb;78(2):153-63. PMID: 9484713

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