Chronic myelogenous leukemia diagnostic study of choice: Difference between revisions

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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 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
** Reverse transcription polymerase chain reaction (RT-PCR)
** [[Reverse transcription polymerase chain reaction]] (RT-PCR)


===== Diagnostic results =====
===== Diagnostic results =====
Line 22: Line 22:


===== Sequence of Diagnostic Studies =====
===== Sequence of Diagnostic Studies =====
* The peripheral blood studies must be performed when:
* The peripheral blood studies must be performed as a first step 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
** 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>  
* 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:<ref name="pmid8289491" />
* The various investigations must be performed in the following order:<ref name="pmid8289491" />

Revision as of 19:12, 11 November 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

Diagnostic results
  • Philadelphia chromosomes
    Philadelphia chromosome
    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 as a first step when:
  • The patient presented with signs of:
    • Anemia
    • Lecopenia
    • Thrombocytopenia
  • 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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