Cite this page: Pernick N. MYC. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/stainscmyc.html. Accessed December 27th, 2024.
Definition / general
- Proto-oncogene at 8q24.1 produces short lived nuclear phosphoprotein
- Overexpressed by t(8;14)(q24;q32.3), t(8;22);(q24;11) and t(2;8);(p11-12;q24), which translocate c-myc gene next to immunoglobulin genes in Burkitt’s lymphoma
- Gene expressed in virtually all eukaryotic cells; expression usually tightly controlled
- Immediate early growth response gene; rapidly induced when quiescent cells receive a signal to divide; required for cells to enter S phase
- By itself, binds DNA poorly; forms stable sequence specific DNA binding heterodimers with max; myc-max recognizes E-box sequence CACGTG and activates transcription of nearby growth promoting genes
- Has leucine zipper motif: leucine residues that project from every other turn of the alpha helix (every 7th amino acid is leucine), which interdigitates with another leucine zipper
- In humans, deletion causes embryonic death
- t(8;14) also frequent in AIDS-related lymphomas, diffuse large-cell lymphomas, posttransplant lymphoproliferative disease, B-ALL (leukemic counterpart of Burkitt's lymphoma)
- t(8;14)(q24;q11) present in 10-15% T-ALL
- Breast cancer: amplified in 20-30% of cases; associated with HER2 amplification and poor outcome (Hum Pathol 2005;36:634)
- Burkitt’s lymphoma: 90% have translocation of c-myc or variants; translocation causes continuous stimulation by adjacent enhancer element of immunoglobulin gene or mutations in myc gene regulatory sequences, that leads to increased constitutive levels; continuous growth stimulation may lead to polyclonal pre-B proliferations, then clonal proliferations, usually ALL-L3
- Lung-small cell carcinoma: amplified
- Neuroblastoma: amplified
N-Myc
- Also called MYCN, gene at 2p24
- Amplified gene forms double minutes and homogenously staining regions, and produces excessive N-myc protein
- Neuroblastoma:
- Amplification (> 10 copies by Southern blot or FISH) associated with poor prognosis and 1p36.3 deletions