Cytogenetic abnormalities and clinical associations

By clinical association:

• ALL || t(9;22)(q34;q11.2) gene BCR, ABL with poor prognosis , t(12;21)(p13;q22)gene AML1, TEL with excellent prognosis
• Atrial myxoma || 17q24 gene PRKAR1-alpha (protein kinase A subunit)
• Burkitt lymphoma || t(8;14)(q24;q32) gene c-MYC, IgH
• Cardiac fibroma || 9q22.3 gene PTC (transmembrane protein)
• Cardiac rhabdomyoma || 9q34 gene TSC-1 (hamartin), or 16p13.3 gene TSC-2 (tuberin)
• CML || t(9;22)(q34;q11.2) gene BCR, ABL
• Dilated cardiomyopathy || 14q12 gene MYH7 (beta-myosin heavy chain Lamin A/C), or Xp21 gene DMD (dystrophin)
• Follicular lymphoma || t(14;18)(q32;q21) gene BCL-2, IgH
• Gorlin Syndrome, Cardiac fibroma || 9q22.3 mutation gene PTC (transmembrane protein)
• Hypertrophic cardiomyopathy || 14q12 gene MYH7 (beta-myosin heavy chain), 11p11.2 gene MYBPC3 (myosin binding protein C), or 1q32 gene TNNT2 (Troponin T, high incidence of sudden cardiac death)
• MALT lymphoma || t(11;18)(q21;q21) gene API-2, MALT1
• Mantle cell lymphoma || t(11;14)(q13;q32) gene BCL-1, IgH
• Non-Hodgkin lymphoma || t(2;18)(p12;q21) gene unk
• Papillary thyroid carcinoma || 10q11.2 "RET, RET/PTC1, RET/PTC2, RET/PTC3"

By cytogenetic abnormality:

• t(2;18)(p12;q21) gene unk || Non-Hodgkin lymphoma
• t(8;14)(q24;q32) gene c-MYC, IgH || Burkitt lymphoma
• t(9;22)(q34;q11.2) gene BCR, ABL || CML, ALL with poor prognosis, AML M1 & M2
• 9q22.3 mutation gene PTC (transmembrane protein) || Gorlin Syndrome, Cardiac fibroma
• 9q34 gene TSC-1 (hamartin), or 16p13.3 gene TSC-2 (tuberin) || Cardiac rhabdomyoma
• t(11;14)(q13;q32) gene BCL-1, IgH || Mantle cell lymphoma,
• t(11;18)(q21;q21) gene API-2, MALT1 || MALT lymphoma
• t(12;21)(p13;q22) gene AML1, TEL || ALL with excellent prognosis
• 14q12 gene MYH7 (beta-myosin heavy chain Lamin A/C), or Xp21 gene DMD (dystrophin) || Dilated cardiomyopathy
• 14q12 gene MYH7 (beta-myosin heavy chain), 11p11.2 gene MYBPC3 (myosin binding protein C), or 1q32 gene TNNT2 (Troponin T, high incidence of sudden cardiac death) || Hypertrophic cardiomyopathy
• t(14;18)(q32;q21) gene BCL-2, IgH || Follicular lymphoma
• t(15;17)(q22;q21) gene PML, RARa || Acute promyelocytic leukemia, AML M3
• 17q24 gene PRKAR1-alpha (protein kinase A subunit) || Atrial myxoma

By affected gene: