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تعداد آیتم قابل مشاهده باقیمانده : 3 مورد
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Mosaic RASopathies: Genotype analysis of mosaic nevoid proliferations

Mosaic RASopathies: Genotype analysis of mosaic nevoid proliferations
  HRAS KRAS NRAS  
Nevus type Mutation analyses* G13R G12D G12C Other G12D G12V Other Other
Keratinocytic
KEN plus urothelial carcinomasΔ[1] Sanger sequencing       G12S – – – –
KEN[2] SNaPshot assay, Sanger sequencing 21/72   1/72 G12V, Q61L 1/72   G12D, P34L, Q61R FGFR3 (16/72), PIK3CA (6/72)
KEN plus rhabdomyosarcomaΔ[3] WGA-aCGH         1/1      
Sebaceous
Schimmelpenning syndrome, NS[4] RAS SNaPshot assay, Sanger sequencing 1/2
59/65		 1/65 1/65 G12S (3/65), A11S 1/2
2/65		 1/65    
NS◊[5] WES of index cases, Sanger sequencing 25/27       1/27 1/27    
Schimmelpenning syndrome (index), NS[6] WES of index case, Sanger sequencing 1/1
24/31		 1/31     2/31      
PPK
Nevus spilus plus NS[7] RAS SNaPshot assay, Sanger sequencing 4/6     G61R
(2/6)		        
Melanocytic
Agminated segmental neviΔ[8] Sanger sequencing 1/1             BRAF V600E
Nevus spilus plus overlying agminated Spitz neviΔ[9] WES-aCGH 1/1             Copy number increase in chromosome 11p in overlying Spitz nevi
Nevus spilus[10] Sanger sequencing 8/8       – – – –
Nevus spilus-type CMN[11] WES             G13R, Q61H (2/3)  
KEN: keratinocytic epidermal nevi; WGA-aCGH: whole genome amplification-array comparative genomic hybridization; NS: nevus sebaceous; WES: whole exome sequencing; PPK: phakomatosis pigmentokeratotica; CMN: congenital melanocytic nevus.
* Analyses techniques are summarized but may not reflect the breakdown of additional methods used. Refer to original study for details. En dash (–) indicates genes not screened.
¶ Mutations listed under other are present in one sample of the total tested only unless otherwise indicated.
Δ Case report.
◊ Merged data. Breakdown: 3/5 HRAS G13R (two additional separate sets were 11/11 and 11/11 for this mutation), 1/5 KRAS G12D, and 1/5 KRAS G12V.
References:
  1. Hafner C, Toll A, Real FX. HRAS mutation mosaicism causing urothelial cancer and epidermal nevus. N Engl J Med 2011; 365:1940.
  2. Hafner C, Toll A, Gantner S, et al. Keratinocytic epidermal nevi are associated with mosaic RAS mutations. J Med Genet 2012; 49:249.
  3. Bourdeaut F, Hérault A, Gentien D, et al. Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, polycystic kidneys and rhabdomyosarcoma. J Med Genet 2010; 47:859.
  4. Groesser L, Herschberger E, Ruetten A, et al. Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome. Nat Genet 2012; 44:783.
  5. Levinsohn JL, Tian LC, Boyden LM, et al. Whole-exome sequencing reveals somatic mutations in HRAS and KRAS, which cause nevus sebaceous. J Invest Dermatol 2013; 133:827.
  6. Sun BK, Saggini A, Sarin KY, et al. Mosaic activating RAS mutations in nevus sebaceus and nevus sebaceus syndrome. J Invest Dermatol 2013; 133:824.
  7. Groesser L, Herschlberger E, Sagrera A, et al. Phacomatosis pigmentokeratotica is caused by a postzygotic HRAS mutation in a multipotent progenitor cell. J Invest Dermatol 2013; 133:1998.
  8. Luo S, Chaplin AC, Langley RG, et al. Agminated segmental nevi demonstrating intranevic concordance of BRAF status. J Invest Dermatol 2011; 131:788.
  9. Sarin KY, Sun BK, Bangs CD, et al. Activating HRAS mutation in agminated Spitz nevi arising in a nevus spilus. JAMA Dermatol 2013; 149:1077.
  10. Sarin KY, McNiff JM, Kwok S, et al. Activating HRAS mutation in nevus spilus. J Invest Dermatol 2014; 134:1766.
  11. Kinsler VA, Krengel S, Riviere JB, et al. Next-generation sequencing of nevus spilus-type congenital melanocytic nevus: exquisite genotype-phenotype correlation in mosaic RASopathies. J Invest Dermatol 2014; 134:2658.
Reproduced from: Luo S, Tsao H. Epidermal, sebaceous, and melanocytic nevoid proliferations are spectrums of mosaic RASopathies. J Invest Dermatol 2014; 134:2493. Table used with the permission of Elsevier Inc. All rights reserved.
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