Pathology
polycythemia vera JAK2(V617F) JAK2 exon 12 mutations. N542-E543del mutation R541-E543delinsK
No evidence for JAK2 exon 12 mutations in primary mediastinal large B-cell lymphoma. (#19704259#)
References
No evidence for the JAK2 (V617F) or JAK2 exon 12 mutations in primary mediastinal large B-cell lymphoma. Wu D, Dutra B, Lindeman N, Takahashi H, Takeyama K, Harris NL, Pinkus GS, Longtine J, Shipp M, Kutok JL. Diagn Mol Pathol. 2009 Sep;18(3):144-9. PMID: #19704259# (Free) (...)
Home > A. Molecular pathology > Variants-Mutants
Variants-Mutants
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JAK2 exon 12 mutations
7 December 2011 -
methylenetetrahydrofolate reductase C677T
5 December 2011methylenetetrahydrofolate reductase C677T
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prothrombin G20210A
5 December 2011See also
prothrombin
hereditary thrombophilia
References
Rapid multiplexed genotyping for hereditary thrombophilia by SELDI-TOF mass spectrometry. Yang S, Xu L, Wu HM. Diagn Mol Pathol. 2010 Mar;19(1):54-61. PMID: #20186013# -
KIT-D816V
29 November 2011KIT(D816V)
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AKT1-pS473
14 January 2011AKT-pS473
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CDKN2A-A148T
22 July 2010Pathology
The A148T variant of the CDKN2A gene is not associated with melanoma risk in the French and Italian populations. (#16614725#)
References
The A148T variant of the CDKN2A gene is not associated with melanoma risk in the French and Italian populations. Spica T, Portela M, Gérard B, Formicone F, Descamps V, Crickx B, Ollivaud L, Archimbaud A, Dupin N, Wolkenstein P, Vitoux D, Lebbe C, Saiag P, Basset-Seguin N, Fargnoli MC, Grandchamp B, Peris K, Soufir N; MELAN-COHORT. J Invest (...) -
RET-V804M
21 July 2010References
Germline RET V804M mutation associated with multiple endocrine neoplasia type 2A. Gibelin H, Bezieau S, Misso C, Bouin-Pineau MH, Maréchaud R, Kraimps JL. Br J Surg. 2004 Nov;91(11):1458-9. PMID: #15386323# -
JAK2-V617F
26 April 2010During the last 5 years, it was discovered that the JAK2V617F somatic mutation is present in virtually all patients with polycythemia vera and a large proportion of patients with essential thrombocythemia, primary myelofibrosis, and refractory anemia with ring sideroblasts and thrombocytosis.
As a result, JAK2-V617F was incorporated as a new clonal marker in the 2008 revision of the WHO diagnostic criteria.
Current methods for JAK2 genotyping include direct sequencing, pyrosequencing, (...) -
BRAF-V600E
2 February 2010BRAF is an oncogene that is commonly mutated in both melanomas and papillary thyroid carcinomas (PTCs).
Usually, mutations in the codons 600 or 601 lead to constitutive activity in the Ras-mitogen-activated protein kinase pathway.
Neoplasms associated with BRAF-V600E mutations:
histiocytic proliferations
Langerhans cell histiocytosis
Erdheim-Chester disease
juvenile xanthogranuloma family neoplasms (#31685033#)
-* BRAF V600E mutations are not an oncogenic driver of solitary (...)