Chronic myelogenous leukemia diagnostic study of choice: Difference between revisions

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Latest revision as of 05:58, 31 January 2019

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]

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.

Template:WH Template:WS

[pmid10735902-1] 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.

[pmid8289491-2] 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.

[1]

[2]

@@ Line 1: / Line 1: @@
 __NOTOC__
+{{Chronic myelogenous leukemia}}
+{{CMG}}; {{AE}} {{Badria}} , {{shyam}}
-{{CMG}}; {{AE}}{{Badria}}
 == Overview ==
+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 ==
 === Study of choice ===
+The diagnosis of chronic myelogenous leukemia is confirmed via one or more of the following studies done on peripheral blood:
-* There is no single diagnostic study of choice for the diagnosis of [[chronic myelogenous leukemia]].
+* 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>
-* 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
+* [[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>
-** the Philadelphia chromosome
+=== Peripheral blood smear ===
-** the BCR-ABL1 fusion gene
+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>
-** the BCR-ABL1 fusion mRNA
+* [[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)
-* Using one of the folowing techniques:
+* [[Blasts]] usually number <2%
+* [[Absolute basophilia]], in 90% of cases
-** Conventional cytogenetics
+* [[Monocytosis]] is often seen, but generally not an increased [[monocyte]] percentage
-** Fluorescence in situ hybridization (FISH) analysis
+* [[Monocytosis|Absolute monocytosis]] is more prominent in the unusual cases with a p190 [[BCR/ABL]]
-** Reverse transcription polymerase chain reaction (RT-PCR)
+* [[Platelet]] count is usually normal or elevated
+* [[Thrombocytopenia]] suggests an alternative diagnosis or the presence of advanced stage, rather than chronic phase disease
-===== Diagnostic results =====
+* Increase in [[myeloid cells]] at various stages of maturation (i.e. [[Metamyelocyte|metamyelocytes]] and band forms)
-The following finding(s) on performing PCR is confirmatory for [chronic myelogenous leukemia]].
+The various investigations should be performed in the following order:<ref name="pmid8289491" />
+* [[Peripheral blood smear|Peripheral blood smear review]]
-** 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 :
-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>
-* 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:
 * Peripheral blood studies
-* Bone marrow biopsy
+* [[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 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==
 {{Reflist|2}}
 {{WH}}
 {{WS}}