Line 22: |
Line 22: |
| | | |
| KIT mutations are prevalent in many cancers, including gastrointestinal stromal tumors (GIST, a soft tissue sarcoma) (90%)[3], genetical tract cancers (22%), hematopoietic and lymphoid cancers (13.8%), and Melanomas (7%) ([https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=kit see COSMIC]). | | KIT mutations are prevalent in many cancers, including gastrointestinal stromal tumors (GIST, a soft tissue sarcoma) (90%)[3], genetical tract cancers (22%), hematopoietic and lymphoid cancers (13.8%), and Melanomas (7%) ([https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=kit see COSMIC]). |
| + | |
| | | |
| [http://www.ccga.io/index.php/Acute_Myeloid_Leukemia_(AML)_and_Related_Precursor_Neoplasms Acute Myeloid Leukemia (AML) and Related Precursor Neoplasms] | | [http://www.ccga.io/index.php/Acute_Myeloid_Leukemia_(AML)_and_Related_Precursor_Neoplasms Acute Myeloid Leukemia (AML) and Related Precursor Neoplasms] |
Line 31: |
Line 32: |
| Mutations that cause constitutive activation of KIT are detected in AML patients. These mutations fall into two classes, the most common being in-frame internal tandem duplications of variable length in the juxtamembrane region that disrupt the normal regulation of the kinase activity and point mutations in the kinase domain that result in a constitutively activated kinase. | | Mutations that cause constitutive activation of KIT are detected in AML patients. These mutations fall into two classes, the most common being in-frame internal tandem duplications of variable length in the juxtamembrane region that disrupt the normal regulation of the kinase activity and point mutations in the kinase domain that result in a constitutively activated kinase. |
| | | |
− | Mutations of KIT have been shown to have prognostic significance among AML with t(8;21)(q22;q22) (RUNX1-RUNXT1) and inv(16)(p13.1q22)/ t(16;16)(p13.1;q22) (CBFB-MYH11), in which they are associated with a poor prognosis. These KIT mutations most commonly occur within exon 8 and 17. [1]. KIT mutations occurs primarily in a subset of leukemias containing inv(16) or t(8;21), so-called core factor binding AML. Apart from exon 17 mutations, also internal tandem duplications in exon 11 have been described. | + | Mutations of KIT have been shown to have prognostic significance among AML with t(8;21)(q22;q22) (RUNX1-RUNXT1) and inv(16)(p13.1q22)/ t(16;16)(p13.1;q22) (CBFB-MYH11), in which they are associated with a poor prognosis. These KIT mutations most commonly occur within exon 8 and 17. [1]. KIT mutations occurs primarily in a subset of leukemias containing inv(16) or t(8;21), so-called core factor binding AML. Apart from exon 17 mutations, also internal tandem duplications in exon 11 have been described. Prognosis. Presence of D816V mutation in KIT is a poor prognostic factor [[http://atlasgeneticsoncology.org/Genes/KITID127.html see Atlas of Genetics and Cytogenetics in Oncology and Haematology]]. |
− | Prognosis. Presence of D816V mutation in KIT is a poor prognostic factor [[http://atlasgeneticsoncology.org/Genes/KITID127.html see Atlas of Genetics and Cytogenetics in Oncology and Haematology]]. | + | |
| | | |
| GIST (gastrointestinal stromal tumors) | | GIST (gastrointestinal stromal tumors) |
| | | |
− | mast cell disease
| + | |
| + | Mast cell disease |
| + | |
| + | |
| + | Melanoma |
| | | |
| [http://www.ccga.io/index.php/Melanoma_skin_Cancer Melanoma Skin Cancer] | | [http://www.ccga.io/index.php/Melanoma_skin_Cancer Melanoma Skin Cancer] |