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{{Chronic myelogenous leukemia}} | {{Chronic myelogenous leukemia}} | ||
{{CMG}} {{ | {{CMG}}; {{AE}} {{Badria}} , {{shyam}} | ||
== Overview == | == Overview == | ||
The diagnosis of chronic myelogenous leukemia is confirmed via peripheral blood karyotyping or FISH showing presence of the translocation between chromosomes 9 and 22 (which causes the ''BCR'' gene to come into proximity with the | The diagnosis of chronic myelogenous leukemia is confirmed via peripheral blood [[karyotyping]] or [[Fluorescence in situ hybridization|FISH]] showing presence of the translocation between chromosomes 9 and 22 (which causes the [[BCR gene|''BCR'' gene]] to come into proximity with the [[ABL]] gene. A [[Bone marrow examination|bone marrow biopsy]] can also be done to aid in the diagnosis and to better assess for [[Philadelphia chromosome]]-positive metaphases. | ||
== Diagnostic Study of Choice == | == Diagnostic Study of Choice == | ||
=== Study of choice === | === Study of choice === | ||
The diagnosis of chronic myelogenous leukemia is confirmed via one or more of the following studies done on peripheral blood: | |||
* Conventional [[cytogenetics]]: This tests assess the presence and morphology of [[chromosomes]] in cells.<ref name="pmid10735902">{{cite journal |vauthors=Le Gouill S, Talmant P, Milpied N, Daviet A, Ancelot M, Moreau P, Harousseau JL, Bataille R, Avet-Loiseau H |title=Fluorescence in situ hybridization on peripheral-blood specimens is a reliable method to evaluate cytogenetic response in chronic myeloid leukemia |journal=J. Clin. Oncol. |volume=18 |issue=7 |pages=1533–8 |date=April 2000 |pmid=10735902 |doi=10.1200/JCO.2000.18.7.1533 |url=}}</ref> | |||
* [[Fluorescence in situ hybridization]] (FISH) analysis: This test confirms the presence of the [[translocation]] between [[chromosomes 9]] and [[chromosome 22]] (which causes the [[BCR]] gene to come into proximity with the [[ABL]] gene).<ref name="pmid10735902">{{cite journal |vauthors=Le Gouill S, Talmant P, Milpied N, Daviet A, Ancelot , Moreau P, Harousseau JL, Bataille R, Avet-Loiseau H |title=Fluorescence in situ hybridization on peripheral-blood specimens is a reliable method to evaluate cytogenetic response in chronic myeloid leukemia |journal=J. Clin. Oncol. |volume=18 |issue=7 |pages=1533–8 |date=April 2000 |pmid=10735902 |doi=10.1200/JCO.2000.18.7.1533 |url=}}</ref> | |||
* [[Reverse transcriptase polymerase chain reaction]] (RT-PCR):This can be done to assess for BCR-ABL transcripts at the [[Messenger RNA|mRNA]] level. This test is more sensitive and is more commonly used in the current era when assessing response to therapy.<ref name="pmid10735902">{{cite journal |vauthors=Le Gouill S, Talmant P, Milpied N, Daviet A, Ancelot M, Moreau P, Harousseau JL, Bataille R, Avet-Loiseau H |title=Fluorescence in situ hybridization on peripheral-blood specimens is a reliable method to evaluate cytogenetic response in chronic myeloid leukemia |journal=J. Clin. Oncol. |volume=18 |issue=7 |pages=1533–8 |date=April 2000 |pmid=10735902 |doi=10.1200/JCO.2000.18.7.1533 |url=}}</ref> | |||
=== Peripheral blood smear === | === Peripheral blood smear === | ||
Peripheral blood smear may show:<ref name="pmid8289491">{{cite journal |vauthors=Melo JV, Myint H, Galton DA, Goldman JM |title=P190BCR-ABL chronic myeloid leukaemia: the missing link with chronic myelomonocytic leukaemia? |journal=Leukemia |volume=8 |issue=1 |pages=208–11 |date=January 1994 |pmid=8289491 |doi= |url=}}</ref> | |||
* [[Absolute leukocytosis]] (median of 100,000/µL) with a [[left shift]] and classic [[myelocyte]] bulge (more [[Myelocyte|myelocytes]] than the more mature [[Metamyelocyte|metamyelocytes]] seen on the blood smear) | |||
* [[Blasts]] usually number <2% | |||
* [[Absolute basophilia]], in 90% of cases | |||
* [[Monocytosis]] is often seen, but generally not an increased [[monocyte]] percentage | |||
* [[Monocytosis|Absolute monocytosis]] is more prominent in the unusual cases with a p190 [[BCR/ABL]] | |||
* [[Platelet]] count is usually normal or elevated | |||
* [[Thrombocytopenia]] suggests an alternative diagnosis or the presence of advanced stage, rather than chronic phase disease | |||
* Increase in [[myeloid cells]] at various stages of maturation (i.e. [[Metamyelocyte|metamyelocytes]] and band forms) | |||
The various investigations should be performed in the following order:<ref name="pmid8289491" /> | |||
* [[Peripheral blood smear|Peripheral blood smear review]] | |||
* | * Peripheral blood studies | ||
* [[Bone marrow biopsy]] | |||
* | |||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
{{WH}} | {{WH}} | ||
{{WS}} | {{WS}} | ||
Latest revision as of 05:58, 31 January 2019
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Badria Munir M.B.B.S.[2] , Shyam Patel [3]
Overview
The diagnosis of chronic myelogenous leukemia is confirmed via peripheral blood karyotyping or FISH showing presence of the translocation between chromosomes 9 and 22 (which causes the BCR gene to come into proximity with the ABL gene. A bone marrow biopsy can also be done to aid in the diagnosis and to better assess for Philadelphia chromosome-positive metaphases.
Diagnostic Study of Choice
Study of choice
The diagnosis of chronic myelogenous leukemia is confirmed via one or more of the following studies done on peripheral blood:
- Conventional cytogenetics: This tests assess the presence and morphology of chromosomes in cells.[1]
- Fluorescence in situ hybridization (FISH) analysis: This test confirms the presence of the translocation between chromosomes 9 and chromosome 22 (which causes the BCR gene to come into proximity with the ABL gene).[1]
- Reverse transcriptase polymerase chain reaction (RT-PCR):This can be done to assess for BCR-ABL transcripts at the mRNA level. This test is more sensitive and is more commonly used in the current era when assessing response to therapy.[1]
Peripheral blood smear
Peripheral blood smear may show:[2]
- Absolute leukocytosis (median of 100,000/µL) with a left shift and classic myelocyte bulge (more myelocytes than the more mature metamyelocytes seen on the blood smear)
- Blasts usually number <2%
- Absolute basophilia, in 90% of cases
- Monocytosis is often seen, but generally not an increased monocyte percentage
- Absolute monocytosis is more prominent in the unusual cases with a p190 BCR/ABL
- Platelet count is usually normal or elevated
- Thrombocytopenia suggests an alternative diagnosis or the presence of advanced stage, rather than chronic phase disease
- Increase in myeloid cells at various stages of maturation (i.e. metamyelocytes and band forms)
The various investigations should be performed in the following order:[2]
- Peripheral blood smear review
- Peripheral blood studies
- Bone marrow biopsy
References
- ↑ 1.0 1.1 1.2 Le Gouill S, Talmant P, Milpied N, Daviet A, Ancelot M, Moreau P, Harousseau JL, Bataille R, Avet-Loiseau H (April 2000). "Fluorescence in situ hybridization on peripheral-blood specimens is a reliable method to evaluate cytogenetic response in chronic myeloid leukemia". J. Clin. Oncol. 18 (7): 1533–8. doi:10.1200/JCO.2000.18.7.1533. PMID 10735902.
- ↑ 2.0 2.1 Melo JV, Myint H, Galton DA, Goldman JM (January 1994). "P190BCR-ABL chronic myeloid leukaemia: the missing link with chronic myelomonocytic leukaemia?". Leukemia. 8 (1): 208–11. PMID 8289491.