Molecular Pathology

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Author:
grantnik
ID:
166567
Filename:
Molecular Pathology
Updated:
2012-08-19 14:55:50
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Molecular Pathology
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Description:
Common translocations in neoplastic pathology
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  1. What is the most common translocation and chimeric genes/fusion proteins associated with chronic myelogenous leukemia?
    --  t(9;22)(q34q11), BCR/ABL
  2. What is the most common translocation and chimeric genes/fusion proteins associated with acute myeloid leukemia?
    --  t(8;21)(q22;q22), AML1/ETO
  3. What is the most common translocation and chimeric genes/fusion proteins associated with acute promyelocytic leukemia?
    --  t(15;17)(q22;q12), PML/RAR αlpha
  4. What is the most common translocation and chimeric genes/fusion proteins associated with AML with abnormal eosinophils?
    --  t(16;16)(p13;q22) [or inv(16)(p13q22)], CBFb/MYH11
  5. What is the most common translocation and chimeric genes/fusion proteins associated with Burkitt lymphoma?
    --  t(8;14)(q24;q32), c-MYC/Ig heavy chain locus
  6. What are the 4 most common translocations and chimeric genes/fusion proteins associated with precursor B ALL?
    • --  t(9;22)(q34;q11.2), BCR/ABL
    • --  t(4;11)(q21;q23), AF4/MLL
    • --  t(1;19)(q23;p13.3), PBX/E2A
    • --  t(12;21)(p13;q22), TEL/AML1
  7. What is the most common translocation and chimeric genes/fusion proteins associated with mantle cell lymphoma (involves virutally all cases)?
    --  t(11;14)(q13;q32), Ig heavy chain locus/BCL1
  8. What is the most common translocation and chimeric genes/fusion proteins associated with follicular lymphoma?
    --  t(14;18)(q32;q21), BCL2 rearranged
  9. What is the most common translocation and chimeric genes/fusion proteins associated with MALT lymphoma?
    --  t(11;18)(q21;q21), API2/MLT
  10. What is the most common translocation and chimeric genes/fusion proteins associated with anaplastic large cell lymphoma?
    --  t(2;5)(p23;q35), ALK/NPM
  11. What is the most common translocation and chimeric genes/fusion proteins associated with T cell prolymphocytic leukemia?
    --  t(14;14)(q11;q32) [or inv14q(q11;q32)], TCR α/TCL1
  12. What is the most common translocation and chimeric genes/fusion proteins associated with alveolar soft part sarcoma?
    --  t(X;17)(p11;q25), TFE3-ASPL
  13. What are the 2 most common translocations and chimeric genes/fusion proteins associated with alveolar rhabdomyosarcoma?
    • --  t(2;13)(q35;q14), PAX3/FKHR
    • --  t(1;13)(q36;q14), PAX7-FOXO1A
  14. Which resulting chimeric gene has a relatively more favorable outcome in alveolar rhabdomyosarcoma?
    --  PAX7-HKHR has a favorable prognosis (over PAX3-FKHR) ("seventh heaven")
  15. What is the most common translocation and chimeric genes/fusion proteins associated with congenital fibrosarcoma?
    --  t(12;15)(p13;q25), ETV6/NTRK3
  16. What are the 2 most common translocations and chimeric genes/fusion proteins associated with clear cell sarcoma?
    • --  t(12;22)(q13;q12), EWSR1-ATF1
    • --  t(2;22)(q33;q12), EWSR1-CREB1
  17. What is the most common translocation and chimeric genes/fusion proteins associated with dermatofibrosarcoma protuberans?
    --  t(17;22)(q22;q13), COLIA1/PDGFB (>95%)
  18. What are the 2 translocations and chimeric genes/fusion proteins associated with desmoplastic small round cell tumor?
    • --  t(11;22)(p13q;12), EWS/WT1
    • --  t(21;22)(q22;q12), EWSR1-ERG
  19. What are the 2 most common genetic aberrations (translocation and chimeric genes/fusion) proteins associated with Ewing's sarcoma/PNET?
    • --  t(11;22)(q24;q12), EWS/FLI1 (90%)
    • --  t(21;22)(q22;q12), EWS-ERG( 5%)
    • -- (there are several other rare translocations and other aberrations)
  20. What is the most common translocation and chimeric genes/fusion proteins associated with malignant melanoma of soft parts/clear cell sarcoma?
    --  t(12;22)(q13;q12), EWS/ATF1 (>85%)
  21. What is the most common translocation and chimeric genes/fusion proteins associated with myxoid/round cell liposarcoma?
    • --  t(12;16)(q13;p11), TLS/CHOP (95%)
    • --  [t(12;22)(q13;q12), EWS-CHOP (5%)]
  22. What is the most common translocation and chimeric genes/fusion proteins associated with synovial sarcoma?
    --  t(X;18)(p11.23;q11), SYT/SSX1 [or t(X;18)(p11;q11), SS18-SSX2]
  23. What are the 2 translocations and chimeric genes/fusion proteins associated with papillary renal cell carcinoma?
    • --  t(X;1)(p11;q21), TFE3/PRCC
    • --  t(X;1)(p11;p34), TFE3/PSF
  24. 2 protooncogenes, RET and NTRK1 may be fused to the amino-terminus of many different gene products in what type of cancer?
    --  Papillary thyroid carcinoma
  25. Deletion of TMPRSS2 with fusion to ETS family proteins (ERG, ETV1, or ETV4) may be seen in what type of cancer?
    --  Prostate cancer
  26. What is the most common translocation and chimeric genes/fusion proteins associated with follicular thyroid carcinoma?
    --  t(2;3)(q13;p25), PAX8-PPARγ
  27. What are the most common molecular targets in glioblastoma?
    --  del 10q,  EGFR, TP53, PTEN,  MGMT
  28. What are the most common molecular targets in oligodendroglioma?
    --  del 1p and 19q, EGFR, TP53
  29. What is the most common genetic alteration in sporadic, non-hereditary breast cancer?
    --  HER2/neu
  30. What are the most common molecular targets in hereditary breast cancer?
    --  BRCA1, BRCA2, EGFR
  31. What are the most common molecular targets in papillary thyroid carcinoma?
    --  BRAF, RET, PTC1, PTC3
  32. What are the 2 most common genetic aberrations in follicular thyroid carcinoma?
    • --  t(2;3)(q13;p25), PAX8-PPARy
    • --  RAS mutations
  33. What is the most common molecular target in medullary thyroid carcinoma?
    --  RET
  34. What are the most common molecular targets in non-small cell carcinomas of the lung?
    --  EGFR, RAS
  35. What is the most common genetic aberration and associated genes in desmoplastic small round cell tumor?
    --  t(11;22)(p13;q12), EWS-WT1 (> 80%)
  36. Gains and losses of multiple chromosomes, and aberrations in IGF2, GOK, PTCH, and p53 are associated with what neoplasm?
    --  Embryonal rhabdomyosarcoma
  37. What are the two most common translocations and genes associated with alveolar rhabdomyosarcoma?
    • --  t(2;13)(q35;q14), PAX3-FKHR (75%)
    • --  t(1;13)(p36;q14), PAX7-FKHR (10%)
  38. What are the most common genetic aberrations and involved genes associated with synovial sarcoma?
    --  t (X;18)(p11;q11); SYT-SSX1 (65%), SYT-SSX2 (35%), or SYT-SSX4 (rare)
  39. What is the most common genetic aberration and involved gene associated with infantile fibrosarcoma?
    --  t(12;15)(p13;q25), ETV6-NTRK3 (~100%)
  40. What is the most common genetic aberration and involved gene associated with inflammatory myofibroblastic tumor?
    --  Rearrangements of 2p23, ALK (50%)
  41. What is the most common genetic aberration and involved genes in angiomatoid fibrous histiocytoma?
    --  t(12;16)(q13;p11), TLS-ATF1
  42. What is the most common genetic aberration and involved genes in low-grade fibromyxoid sarcoma?
    --  t(7;16)(q34;p11), TLS-CREB3L2
  43. Activating mutations in what 2 genes are associated with NON-gastrointestinal soft tissue stromal tumors?
    --  c-kit, PDGFRA
  44. What 3 tumor types can harbor ETV6-NTRK3 fusion genes in >90% of cases?
    • --  Infantile fibrosarcoma
    • --  Mesoblastic nephroma (cellular and mixed types)
    • --  Secretory carcinoma of breast
    • --  [Rarely, AML can have this fusion also]
  45. Inflammatory myofibroblastic tumor often involves fusion between what gene and several other partners?
    --  ALK
  46. Lipomas are associated with rearrangements involving what two genes?
    --  HMGA2 and HMGA1
  47. What is the most common genetic aberration and involved genes in hibernoma?
    --  11q13 rearrangements; MEN1, PPP1A
  48. What translocation is associated with chondroid lipoma?
    --  t(11;16)(q13;P12-13)
  49. Spindle cell/pleomorphic lipomas involve deletions of what two chromosomes?
    --  del 16q13, del 13q
  50. What genetic translocation is associated with epithelioid hemangioendothelioma?
    --  t(1;3)(p36.3;q25)

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