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{{Chronic myelogenous leukemia}}  
{{Chronic myelogenous leukemia}}  
{{CMG}} {{shyam}}; {{AE}} {{Badria}}
{{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 ''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 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.
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>
* [[Chronic myelogenous leukemia]] can also be diagnosed based on the clinical presentation and supported by the typical findings in the [[blood]] and [[bone marrow]], and then confirmed by using one of the following:<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>
** Conventional [[cytogenetics]]
* [[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>
** [[Fluorescence in situ hybridization]] (FISH) analysis
=== Peripheral blood smear ===
** [[Reverse transcription polymerase chain reaction]] (RT-PCR)
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)  
===== Diagnostic results =====
* [[Blasts]] usually number <2%  
*[[File:A t(9;22)(q34;q11) (PHILADELPHIA CHROMOSOME) LYMPHOBLAST KARYOTYPE.jpg|thumb|Philadelphia chromosomes]][[File:Philadelphia chromosome in Chronic Myelogenous Leukemia.jpg|thumb|Philadelphia chromosome]]The following findings on performing PCR is confirmatory for [[Chronic myelogenous leukemia]]:                       
* [[Absolute basophilia]], in 90% of cases
** The Philadelphia chromosome
* [[Monocytosis]] is often seen, but generally not an increased [[monocyte]] percentage
** The BCR-ABL1 fusion gene
* [[Monocytosis|Absolute monocytosis]] is more prominent in the unusual cases with a p190 [[BCR/ABL]]
** The BCR-ABL1 fusion mRNA
* [[Platelet]] count is usually normal or elevated
 
* [[Thrombocytopenia]] suggests an alternative diagnosis or the presence of advanced stage, rather than chronic phase disease
===== Sequence of Diagnostic Studies =====
* Increase in [[myeloid cells]] at various stages of maturation (i.e. [[Metamyelocyte|metamyelocytes]] and band forms)
* The peripheral blood studies must be performed as a first step when:
The various investigations should be performed in the following order:<ref name="pmid8289491" />
 
* [[Peripheral blood smear|Peripheral blood smear review]]
** Anemia
* Peripheral blood studies  
** Leukopenia
* [[Bone marrow biopsy]]
** Thrombocytopenia
 
* Peripheral blood studies 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 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:<ref name="pmid8289491" />
** Peripheral blood smear review
** Peripheral blood studies  
** Bone marrow biopsy  
 
=== Name of Diagnostic Criteria: ===
* WHO criteria of diagnosing different phases of chronic myeloid leukemia is following: <ref name="pmid">{{cite journal |vauthors= |title= |journal= |volume= |issue= |pages= |date= |pmid= |doi= |url=}}</ref><ref name="pmid27069254">{{cite journal |vauthors=Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM, Bloomfield CD, Cazzola M, Vardiman JW |title=The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia |journal=Blood |volume=127 |issue=20 |pages=2391–405 |date=May 2016 |pmid=27069254 |doi=10.1182/blood-2016-03-643544 |url=}}</ref>
{| class="wikitable"
|+'''WHO Criteria of Different Phases of CML'''
!CML chronic phase                         
!CML accelerated phase                                       
!CML blast phase                               
|-
|Granulocytosis in the presence of Ph chromosome and/or BCR/ABL translocation
|Increasing spleen size and WBC count unresponsive to therapy
|Blasts ≥ 20% in perpheral blood and bone marrow
|-
|No sign of CML accelerated phase
|Cytogenetic evidence of clonal evolution of blasts 10–19% in peripheral blood and/or bone marrow
|Extramedullary blast proliferation
|-
|
|Peripheral blood basophils ≥ 20%
|Large foci or clusters of blasts in the bone marrow biopsy
|-
|
|Persistent thrombocytopenia (< 100 x 10^9/L) unrelated to therapy or
Persistent thrombocytosis (> 1000 x 10^9/L) unresponsive to therapy
|
|}
 
==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:

Peripheral blood smear

Peripheral blood smear may show:[2]

The various investigations should be performed in the following order:[2]

References

  1. ↑ 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. ↑ 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.

Template:WH Template:WS

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