Table 1 Gene mutations detected by next-generation sequencing at the tissue wax of the patient
From: Molecular and oral manifestations of langerhans cell histiocytosis preceding acute myeloid leukemia
Gene | Amino acid change | Coding | Exon | Variant effect | Allele frequency | Transcript | Locus | Protein change | MIM number | Clinical significance | Phenotype |
|---|---|---|---|---|---|---|---|---|---|---|---|
TET2 | p.Q1540* | c.4618C > T | 11 | Truncated mutation | 40.5 | NM_001127208.3 | – | – | 612,839 | Likely oncogenic | Chronic Myelomonocytic Leukemia, Myelodysplastic Syndromes, Angioimmunoblastic T-Cell Lymphoma |
TET2 | p.R131Kfs*5 | c.391dup | 3 | Frameshift mutation | 28.6 | NM_001127208.3 | – | – | 612,839 | Likely oncogenic | |
BRAF | p.V600E | c.1799 T > A | 15 | Missense mutation | 17.0 | NM_004333.6 | chr7:140,753,335 | V600E | 164,757 | Oncogenic | Anaplastic Thyroid Cancer, Colorectal Cancer, Melanoma, Non-Small Cell Lung Cancer, Biliary Tract Cancer, Glioma, Astrocytoma, Leukemia |
SRSF2 | p.P95H | c.284C > A | 1 | Missense mutation | 3.2 | NM_001195427.2 | – | – | 600,813 | Oncogenic | Acute Myeloid Leukemia |
NRAS | p.G12D | c.35G > A | 2 | Missense mutation | 0.8 | NM_002524.5 | chr1:114,716,126 | G12D | 164,790 | Oncogenic | Colorectal Cancer, Erdheim-Chester Disease, Langerhans Cell Histiocytosis, Rosai-Dorfman Disease, Histiocytosis, Melanoma, Thyroid Cancer |
MAP2K4 | p.R145W | c.433C > T | 5 | Missense mutation | 3.2 | NM_003010.4 | – | – | 601,335 | Unknown | – |
MPL | p.W632C | c.1896G > C | 12 | Missense mutation | 5.0 | NM_005373.3 | – | – | 159,530 | Unknown | Myelofibrosis with myeloid metaplasia, Thrombocythemia 2, Amegakaryocytic Thrombocytopenia |
DDX41 | p.R311Q | c.932G > A | 9 | Missense mutation | 1.1 | NM_016222.4 | – | – | 608,170 | Unknown | Myeloproliferative/Lymphoproliferative Neoplasms |
MSH3 | p.H781Y | c.2341C > T | 17 | Missense mutation | 15.6 | NM_002439.5 | chr5:80,778,742 | H781Y | 600,887 | Unknown | Endometrial Carcinoma, Familial Adenomatous Polyposis 4 |