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== 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 ''ABL'' gene. A bone marrow biopsy can also be done to aid in the diagnosis and to better assess for Philadelphia chromosome-positive metaphases. | 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 all 46 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 for the presence of the translocation between chromosomes 9 and 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 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> | |||
* [[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> | |||
A diagnosis of [[chronic myelogenous leukemia]] can also be made from bone marrow studies, though a bone marrow biopsy is not necessary. The utility of a [[bone marrow biopsy]] is that it can provide information in metaphase cytogenetics. | |||
A diagnosis of [[chronic myelogenous leukemia]] can also be supported by the clinical presentation based on history and physical examination findings, but these are nonspecific. | |||
=== 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}} | ||
Revision as of 15:04, 11 January 2019
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Shyam Patel [2]; Associate Editor(s)-in-Chief: Badria Munir M.B.B.S.[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 all 46 chromosomes in cells.[1]
- Fluorescence in situ hybridization (FISH) analysis: This test for the presence of the translocation between chromosomes 9 and 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]
A diagnosis of chronic myelogenous leukemia can also be made from bone marrow studies, though a bone marrow biopsy is not necessary. The utility of a bone marrow biopsy is that it can provide information in metaphase cytogenetics.
A diagnosis of chronic myelogenous leukemia can also be supported by the clinical presentation based on history and physical examination findings, but these are nonspecific.
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.