[[Chronic myelogenous leukemia]] is diagnosed clinically, based on history and symptoms and is confirmed with karyotyping or FISH. There is no single diagnostic study of choice, different techniques are applied so far to detect [[philadelphia chromosome]], BCR-ABL [[oncogene]],
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 ==
== 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.
* There is no single diagnostic study of choice for the diagnosis of [[chronic myelogenous leukemia]].
* [[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>
* [[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>
** Conventional [[cytogenetics]]
** Conventional [[cytogenetics]]
** [[Fluorescence in situ hybridization]] (FISH) analysis
** [[Fluorescence in situ hybridization]] (FISH) analysis
Line 26:
Line 25:
* The peripheral blood studies must be performed as a first step when:
* The peripheral blood studies must be performed as a first step when:
* The patient presented with signs of:
** Anemia
** Anemia
** Lecopenia
** Leukopenia
** Thrombocytopenia
** Thrombocytopenia
Line 39:
Line 37:
** [[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.
** Increase in myeloid cells at various stages of maturation (i.e. metamyelocytes and band forms)
* The various investigations must be performed in the following order:<ref name="pmid8289491" />
* The various investigations should be performed in the following order:<ref name="pmid8289491" />
** Peripheral blood smear review
** 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>
{| class="wikitable"
{| class="wikitable"
|+'''WHO Criteria of diagnosing different phases of CML'''
|+'''WHO Criteria of Different Phases of CML'''
!CML chronic phase
!CML chronic phase
!CML accelerated phase
!CML accelerated phase
!CML blast phase
!CML blast phase
|-
|-
|Granulocytosis in the presence of
|Granulocytosis in the presence of Ph chromosome and/or BCR/ABL translocation
ph chromosome and/or BCR/ABL
|Increasing spleen size and WBC count unresponsive to therapy
|Increasing spleen size and WBC unresponsive to therapy
|Blasts ≥ 20% in perpheral blood and bone marrow
|Blasts ≥ 20% in perpheral blood and bone marrow
|-
|-
|NO sign of CML accelerated phase
|No sign of CML accelerated phase
|Cytogenetic evidence of clonal evolution of
|Cytogenetic evidence of clonal evolution of blasts 10–19% in peripheral blood and/or bone marrow
Blasts 10–19% in peripheral blood and/or bone marrow
|Extramedullary blast proliferation
|Extramedullary blast proliferation
|-
|-
Line 67:
Line 65:
|-
|-
|
|
|Persistent thrombocytopenia (< 100 x 109/L)
|Persistent thrombocytopenia (< 100 x 10^9/L) unrelated to therapy or
Persistent thrombocytosis (> 1000 x 10^9/L) unresponsive to therapy
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 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.
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:[1]
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
Name of Diagnostic Criteria:
WHO criteria of diagnosing different phases of chronic myeloid leukemia is following: [3][4]
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
↑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. PMID10735902.
↑ 2.02.1Melo 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. PMID8289491.
↑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. PMID27069254.
(q34;q11)_(PHILADELPHIA_CHROMOSOME)_LYMPHOBLAST_KARYOTYPE.jpg)
