Point mutation pathogenesis observations

 

Point mutation pathogenesis observations from review of full genome and targeted sequence data by tissue and histology.

 

 

Tissue

Histology

Point Mutation Pathogenesis Observations

Adipocytes

Liposarcoma

From review of full genome sequence data, at least two genes were damaged in each sample suggesting a partial point mutation pathogenesis as follows: ((TERT or PIK3CA or TP53 or HRAS or CTNNB1 or other) and (other)) where "other" is one or more other genes.

Bone Marrow Cells

Chondroblastoma

From review of full genome sequence data, two or more genes were mutated in each sample, suggesting an incomplete point mutation pathogenesis as follows: ((H3F3B or H3F3A or (other)) and (other)) where "other" is one or more other genes.

Bone Marrow Cells

Chondrosarcoma

From review of full genome sequence data, two samples were found with only IDH1 mutations, suggesting an incomplete point mutation pathogenesis as follows: (IDH1 or ((other) and (other))) where "other" is one or more other genes.

Bone Marrow Cells

Giant Cell Tumor

Without full genome sequence data, insufficient data exists to suggest a partial point mutation pathogenesis.

Bone Marrow Cells

Osteosarcoma

From review of full genome sequence data, at least two genes were mutated in each sample suggesting an incomplete point mutation pathogenesis as follows: ((TP53 or MUC16 or MUC4 or ATRX or CDKN2A or RB1 or other) and (other)) where "other" is one or more other genes.

Hepatocytes

Hepatocellular Carcinoma

From review of full genome sequence data, at least two genes were mutated in each sample suggesting a partial point mutation pathogenesis as follows: ((CTNNB1 and (TP53 or TERT or AXIN1 or (PCLO and ARID1A))) or (other and other)) where "other" is one or more other genes.

Lymphocytes

Hodgkin's Lymphoma

The lack of genome sequencing precludes certainty, but the gene mutations available suggests an incomplete point mutation pathogenesis as follows: (SOCS1 or TNFAIP3 or ((other) and (other))) where "other" is one or more other genes.

Lymphocytes

Malignant Lymphoma

From review of full genome sequence data, Burkitt lymphoma were diagnosed with as few as one mutated gene including CCT6B, ID3, NOD1, MYC, and ZNRF4, suggesting an incomplete point mutation pathogenesis as follows: (CCT6B or ID3 or NOD1 or MYC or ZNRF4 or ((other) and (other))) where "other" is one or more other genes.

Lymphocytes

Mature B-Cell Lymphoma

From review of full genome sequence data, diffuse large B-Cell lymphoma were diagnosed with as few as one mutated gene including ABCA7, CARD11, CD79B, EZH2, FAS, HIST1H2AG, IRF4, and MYD88 suggesting an incomplete point mutation pathogenesis as follows: (ABCA7 or CARD11 or CD79B or EZH2 or FAS or HIST1H2AG or IRF4 or MYD88 or ((other) and (other))) where "other" is one or more other genes.

Lymphocytes

Precursor Cell Lymphoblastic Lymphoma

Without full genome sequence data, insufficient data exists to suggest a partial point mutation pathogenesis.

Lymphocytes

T & NK-Cell Lymphoma

From review of six samples of full genome sequence data, multiple genes were damaged in each sample without suggesting a specific point mutation pathogenesis.

Neurons & Glia

Glioma

From review of full genome sequence data, at least two genes were mutated in each sample suggesting an incomplete point mutation pathogenesis as follows: (IDH1 and ((TERT or (TP53 and (PTEN or ATRX)) or (other)) or ((other) and (other))) where "other" is one or more other genes.

Neurons & Glia

Meningioma

From review of full genome sequence data, one sample was found with a single mutation in TRAF7, while all other samples had multiple gene mutations suggesting an incomplete point mutation pathogenesis as follows: (TRAF7 or ((other) and (other))) where "other" is one or more other genes.

Neurons & Glia

Nerve Sheath Tumors

From review of full genome sequence data, neurofibromas were diagnosed with only one or more mutations to NF1, suggesting an incomplete point mutation pathogenesis as follows: (NF1 or ((other) and (other))). Including targeted screens, 221 of 226 neurofibroma samples had NF1 mutations. Similarly, 285 of 290 schwannoma samples from the targeted screens contained NF2 mutations suggesting an incomplete point mutation pathogenesis as follows: (NF2 or ((other) and (other))) where "other" is one or more other genes.

Neurons & Glia

Neuroblastoma

From review of full genome sequence data, one sample was found with a single mutation in NRAS, while all other samples had multiple gene mutations suggesting an incomplete point mutation pathogenesis as follows: (NRAS or (ALK and (other)) or ((other) and (other))) where "other" is one or more other genes.

Vascular Endothelial Cells

Angiosarcoma

From review of full genome sequence data, at least two genes were mutated in each sample suggesting a point mutation pathogenesis as follows: ((TP53 or KRAS or PTPRB or PLCG1 or KDR or other) and (other)) where "other" is one or more other genes.

 

References:

[1] Patrick, A.D. & Patrick, B.E., Carbon 14 Decay as a Source of Somatic Point Mutations in Genes Correlated with Cancer Diagnoses, Stable Isotope Foundation, Grants Pass, OR (2017).

[2] Forbes, S.A., et al. Catalog of somatic mutations in cancer (COSMIC): exploring the world's knowledge of somatic mutations in human cancer, Nucleic Acids Res. 43:D805-11 (2014).

[3] Catalog of somatic mutations in cancer (COSMIC) genome screens and complete targeted screens mutant exports, version 80, dated 13 February 2017.

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