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chromosomal translocation t9q34.1:22q11 (Philadelphia chromosome; bcr/abl)
Clinical significance:
- t(9,22) occurs in association with chronic myeloid leukemia (CML)
- a truncated c-abl translocates from chromosome 9 to bcr locus on chromosome 22
- this occurs in approximately 90% of CML & 18% of ALL (L1 & L2)
- also found in AML
- the translocation results in formation of a chimeric bcr-abl oncogene
- the bcr-abl clone results in hyperexpansion of the myeloid clone with suppression of normal hematopoiesis
Pharmacology:
- antineoplastic agents imatinib (Gleevec), nilotinib (Tasigna) or dasatinib (Sprycel) should only be used in CML or AML patients with Philadelphia chromosome
Laboratory:
- t(9;22)(q34.1;q11)(ABL1,BCR) in blood
Properties
GENERAL: chromosomal translocation
RELATED: chromosomal translocation t(9;22)(q34.1;q11)(ABL1,BCR) in blood/tissue
p210 bcr/abl
p160BCR
abl proto-oncogene
acute lymphoblastic leukemia, L2
acute lymphoblastic leukemia, L1
chronic myeloid leukemia
FORM: t(9;22)(q34.1;q11.2)
LOCUS: human chromosome-9 Q34.1
human chromosome-22 Q11
PATHOLOGY: chronic myeloid leukemia
acute lymphoblastic leukemia (ALL)
ABERRANT-GENE: abl proto-oncogene
References
- Cotran et al Robbins Pathologic Basis of Disease,
W.B. Saunders Co, Philadelphia, PA 1989 pg 288
- Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed)
Lippincott-Raven, Philadelphia, 1998, pg 433
- Gleevec tablets [package insert].
East Hanover, NJ: Novartis Pharmaceuticals, Inc.; February 2010.
- Sprycel tablets [package insert].
Princeton, NJ: Bristol-Myers Squibb; June 2009.
- Tasigna capsules [package insert].
East Hanover, NJ: Novartis Pharmaceuticals, Inc.; June 2010
- The NCCN Chronic Myelogenous Leukemia Clinical Practice
Guidelines in Oncology (Version 2.2010).
2010 National Comprehensive Cancer Network, Inc.
- Medical Knowledge Self Assessment Program (MKSAP) 17,
American College of Physicians, Philadelphia 2015