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* There is no single diagnostic study of choice for the diagnosis of [[chronic myelogenous leukemia]].
* There is no single diagnostic study of choice for the diagnosis of [[chronic myelogenous leukemia]].


* Chronic myelogenous leukemia is primarily diagnosed based on the clinical presentation, supported by the typical findings in the blood and bone marrow, and then confirmed by the determination of  one of the following  
* Chronic myelogenous leukemia is primarily diagnosed based on the clinical presentation, 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>
** the Philadelphia chromosome
** the BCR-ABL1 fusion gene
** the BCR-ABL1 fusion mRNA
* Using one of the folowing techniques:
 
** Conventional cytogenetics
** Conventional cytogenetics
** Fluorescence in situ hybridization (FISH) analysis
** Fluorescence in situ hybridization (FISH) analysis
Line 21: Line 16:


===== Diagnostic results =====
===== Diagnostic results =====
The following finding(s) on performing PCR is confirmatory for [chronic myelogenous leukemia]].
* The following findings on performing PCR is confirmatory for [[Chronic myelogenous leukemia]]:
** The Philadelphia chromosome
** The BCR-ABL1 fusion gene
** The BCR-ABL1 fusion mRNA


** the Philadelphia chromosome
===== Sequence of Diagnostic Studies =====
** the BCR-ABL1 fusion gene
* The peripheral blood studies must be performed when:
** the BCR-ABL1 fusion mRNA


===== Sequence of Diagnostic Studies =====
The peripheral blood studies must be performed when:
* The patient presented with signs of anemia, lecopenia and thrombocytopenia as the first step of diagnosis.
* The patient presented with signs of anemia, lecopenia and thrombocytopenia as the first step of diagnosis.
Peripheral blood studies may show :


Characteristic complete blood count (CBC) features are as follows:<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>
* 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)  
** 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%;
** blasts usually number <2%;  
* Absolute basophilia, in 90% of cases
** Absolute basophilia, in 90% of cases
* Monocytosis is often seen, but generally not an increased monocyte percentage
** 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
** Absolute monocytosis is more prominent in the unusual cases with a p190 BCR-ABL
* Platelet count is usually normal or elevated;
** Platelet count is usually normal or elevated;
* Thrombocytopenia suggests an alternative diagnosis or the presence of advanced stage, rather than chronic phase, disease.
** Thrombocytopenia suggests an alternative diagnosis or the presence of advanced stage, rather than chronic phase, disease.


The various investigations must be performed in the following order:
* The various investigations must be performed in the following order:<ref name="pmid8289491" />
* Peripheral blood studies  
** Peripheral blood studies  
* Bone marrow biopsy  
** Bone marrow biopsy  


=== Name of Diagnostic Criteria:  ===
=== 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>
* 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>
 
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|+'''WHO Criteria of diagnosing different phases of CML'''  
|+'''WHO Criteria of diagnosing different phases of CML'''  

Revision as of 19:38, 26 October 2018


Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Badria Munir M.B.B.S.[2]

Overview

Diagnostic Study of Choice

Study of choice

  • Chronic myelogenous leukemia is primarily diagnosed based on the clinical presentation, supported by the typical findings in the blood and bone marrow, and then confirmed by using one of the following:[1]
    • Conventional cytogenetics
    • Fluorescence in situ hybridization (FISH) analysis
    • Reverse transcription polymerase chain reaction (RT-PCR)
Diagnostic results
  • The following findings on performing PCR is confirmatory for Chronic myelogenous leukemia:
    • The Philadelphia chromosome
    • The BCR-ABL1 fusion gene
    • The BCR-ABL1 fusion mRNA
Sequence of Diagnostic Studies
  • The peripheral blood studies must be performed when:
  • The patient presented with signs of anemia, lecopenia and thrombocytopenia as the first step of diagnosis.
  • Peripheral blood studies 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.
  • The various investigations must be performed in the following order:[2]
    • Peripheral blood studies
    • Bone marrow biopsy

Name of Diagnostic Criteria:

  • WHO criteria of diagnosing different phases of chronic myeloid leukemia is following: [3][4]
WHO Criteria of diagnosing different phases of CML
CML chronic phase CML accelerated phase CML blast phase
Granulocytosis in the presence of

ph chromosome and/or BCR/ABL

Increasing spleen size and WBC 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 109/L)

unrelated to therapy or

Persistent thrombocytosis (> 1000 x 109/L)

unresponsive to therapy

References

  1. ↑ 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.
  3. ↑ Empty citation (help)
  4. ↑ Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM, Bloomfield CD, Cazzola M, Vardiman JW (May 2016). "The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia". Blood. 127 (20): 2391–405. doi:10.1182/blood-2016-03-643544. PMID 27069254.

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