Chronic myelogenous leukemia other diagnostic studies: Difference between revisions
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==Biopsy== | ==Biopsy== | ||
A [[bone marrow biopsy]] is often performed as part of the evaluation for CML, but bone marrow morphology alone is insufficient to diagnose CML. | A [[bone marrow biopsy]] is often performed as part of the evaluation for CML, but bone marrow morphology alone is insufficient to diagnose CML. | ||
==Philadelphia chromosome== | ==Philadelphia chromosome== | ||
Ultimately, CML is diagnosed by detecting the [[Philadelphia chromosome]]. This characteristic chromosomal abnormality can be detected by routine [[cytogenetics]], by [[fluorescent in situ hybridization]], or by [[PCR]] for the bcr-abl fusion gene. | Ultimately, CML is diagnosed by detecting the [[Philadelphia chromosome]]. This characteristic chromosomal abnormality can be detected by routine [[cytogenetics]], by [[fluorescent in situ hybridization]], or by [[PCR]] for the bcr-abl fusion gene. | ||
[[Image:CDR533336-571.jpg|thumb| | [[Image:CDR533336-571.jpg|thumb|left|200px|[[Philadelphia chromosome]]. A piece of chromosome 9 and a piece of chromosome 22 break off and trade places. The bcr-abl gene is formed on chromosome 22 where the piece of chromosome 9 attaches. The changed chromosome 22 is called the [[Philadelphia chromosome]]{{-}} | ||
[http://www.cancer.gov/cancertopics/pdq/treatment/CML/patient/ Source].]] {{-}} | |||
Controversy exists over so-called ''Ph-negative'' CML, or cases of suspected CML in which the Philadelphia chromosome cannot be detected. Many such patients in fact have complex chromosomal abnormalities which mask the (9;22) translocation, or have evidence of the translocation by [[fluorescent in situ hybridization|FISH]] or [[RT-PCR]] in spite of normal routine karyotyping.<ref>{{cite journal|title=Clinical features at diagnosis in 430 patients with chronic myeloid leukaemia seen at a referral centre over a 16-year period|author=Savage DG; Szydlo RM; Goldman JM|journal=Br J Haematol|date=1997|volume=96|issue=1|pages=111-116|pmid=9012696}}</ref> The small subset of patients without detectable molecular evidence of bcr-abl fusion may be better classified as having an undifferentiated myelodysplastic/myeloproliferative disorder, as their clinical course tends to be different from patients with CML.<ref name="WHO">{{cite journal|title=Proposals and rationale for revision of the World Health Organization diagnostic criteria for polycythemia vera, essential thrombocythemia, and primary myelofibrosis: recommendations from an ad hoc international expert pane|author=Tefferi A, Thiele J, Orazi A, Kvasnicka HM, Barbui T, Hanson CA, Barosi G, Verstovsek S, Birgegard G, Mesa R, Reilly JT, Gisslinger H, Vannucchi AM, Cervantes F, Finazzi G, Hoffman R, Gilliland DG, Bloomfield CD, Vardiman JW|date=2007|journal=Blood|volume=110|issue=4|pages=1092-1097|pmid=17488875}}</ref> | Controversy exists over so-called ''Ph-negative'' CML, or cases of suspected CML in which the Philadelphia chromosome cannot be detected. Many such patients in fact have complex chromosomal abnormalities which mask the (9;22) translocation, or have evidence of the translocation by [[fluorescent in situ hybridization|FISH]] or [[RT-PCR]] in spite of normal routine karyotyping.<ref>{{cite journal|title=Clinical features at diagnosis in 430 patients with chronic myeloid leukaemia seen at a referral centre over a 16-year period|author=Savage DG; Szydlo RM; Goldman JM|journal=Br J Haematol|date=1997|volume=96|issue=1|pages=111-116|pmid=9012696}}</ref> The small subset of patients without detectable molecular evidence of bcr-abl fusion may be better classified as having an undifferentiated myelodysplastic/myeloproliferative disorder, as their clinical course tends to be different from patients with CML.<ref name="WHO">{{cite journal|title=Proposals and rationale for revision of the World Health Organization diagnostic criteria for polycythemia vera, essential thrombocythemia, and primary myelofibrosis: recommendations from an ad hoc international expert pane|author=Tefferi A, Thiele J, Orazi A, Kvasnicka HM, Barbui T, Hanson CA, Barosi G, Verstovsek S, Birgegard G, Mesa R, Reilly JT, Gisslinger H, Vannucchi AM, Cervantes F, Finazzi G, Hoffman R, Gilliland DG, Bloomfield CD, Vardiman JW|date=2007|journal=Blood|volume=110|issue=4|pages=1092-1097|pmid=17488875}}</ref> | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Biopsy
A bone marrow biopsy is often performed as part of the evaluation for CML, but bone marrow morphology alone is insufficient to diagnose CML.
Philadelphia chromosome
Ultimately, CML is diagnosed by detecting the Philadelphia chromosome. This characteristic chromosomal abnormality can be detected by routine cytogenetics, by fluorescent in situ hybridization, or by PCR for the bcr-abl fusion gene.
Controversy exists over so-called Ph-negative CML, or cases of suspected CML in which the Philadelphia chromosome cannot be detected. Many such patients in fact have complex chromosomal abnormalities which mask the (9;22) translocation, or have evidence of the translocation by FISH or RT-PCR in spite of normal routine karyotyping.[1] The small subset of patients without detectable molecular evidence of bcr-abl fusion may be better classified as having an undifferentiated myelodysplastic/myeloproliferative disorder, as their clinical course tends to be different from patients with CML.[2]
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Chronic myelogenous leukemia
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Chronic myelogenous leukemia
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Chronic myelomonocytic leukemia ( CMMoL)
References
- ↑ Savage DG; Szydlo RM; Goldman JM (1997). "Clinical features at diagnosis in 430 patients with chronic myeloid leukaemia seen at a referral centre over a 16-year period". Br J Haematol. 96 (1): 111–116. PMID 9012696.
- ↑ Tefferi A, Thiele J, Orazi A, Kvasnicka HM, Barbui T, Hanson CA, Barosi G, Verstovsek S, Birgegard G, Mesa R, Reilly JT, Gisslinger H, Vannucchi AM, Cervantes F, Finazzi G, Hoffman R, Gilliland DG, Bloomfield CD, Vardiman JW (2007). "Proposals and rationale for revision of the World Health Organization diagnostic criteria for polycythemia vera, essential thrombocythemia, and primary myelofibrosis: recommendations from an ad hoc international expert pane". Blood. 110 (4): 1092–1097. PMID 17488875.