Chronic myelogenous leukemia diagnostic study of choice: Difference between revisions

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__NOTOC__
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{{Chronic myelogenous leukemia}}
{{CMG}}; {{AE}} {{Badria}} , {{shyam}}


{{CMG}}; {{AE}}{{Badria}}
== Overview ==
== 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 ==
== Diagnostic Study of Choice ==


=== Study of choice ===
=== Study of choice ===
[Name of the investigation] is the gold standard test for the diagnosis of [disease name].
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>
OR
* [[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>
 
* [[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 following result of [gold standard test] is confirmatory of [disease name]:
=== Peripheral blood smear ===
* [Result 1]
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>
* [Result 2]
* [[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)
 
* [[Blasts]] usually number <2%
OR
* [[Absolute basophilia]], in 90% of cases
 
* [[Monocytosis]] is often seen, but generally not an increased [[monocyte]] percentage
[Name of the investigation] must be performed when:
* [[Monocytosis|Absolute monocytosis]] is more prominent in the unusual cases with a p190 [[BCR/ABL]]
* The patient presents with [symptom/sign 1], [symptom/sign 2], and [symptom/sign 3].
* [[Platelet]] count is usually normal or elevated
* A [name of test] is positive for [sign 1], [sign 2], and [sign 3] in the patient.
* [[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. [[Metamyelocyte|metamyelocytes]] and band forms)
OR
The various investigations should be performed in the following order:<ref name="pmid8289491" />
 
* [[Peripheral blood smear|Peripheral blood smear review]]
[Name of the investigation] is the gold standard test for the diagnosis of [disease name].
* Peripheral blood studies
 
* [[Bone marrow biopsy]]  
OR
 
The diagnostic study of choice for [disease name] is [name of the investigation].
 
OR
 
There is no single diagnostic study of choice for the diagnosis of [disease name].
 
OR
 
There is no single diagnostic study of choice for the diagnosis of [disease name], but [disease name] can be diagnosed based on [name of the investigation 1] and [name of the investigation 2].
 
OR
 
[Disease name] is primarily diagnosed based on the clinical presentation.
 
OR
 
Investigations:
* Among the patients who present with clinical signs of [disease name], the [investigation name] is the most specific test for the diagnosis.
* Among the patients who present with clinical signs of [disease name], the [investigation name] is the most sensitive test for diagnosis.
* Among the patients who present with clinical signs of [disease name], the [investigation name] is the most efficient test for diagnosis.
 
==== The comparison of various diagnostic studies for [disease name] ====
{|
|- style="background: #4479BA; color: #FFFFFF; text-align: center;"
! style="background: #4479BA; color: #FFFFFF; text-align: center;" | Test
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Sensitivity
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Specificity
|-
! style="background: #696969; color: #FFFFFF; text-align: center;" |Test 1
| style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
| style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
|-
! style="background: #696969; color: #FFFFFF; text-align: center;" |Test 2
| style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
| style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
|}
<small> [Name of test with higher sensitivity and specificity] is the preferred investigation based on the sensitivity and specificity</small>
 
===== Diagnostic results =====
The following finding(s) on performing [investigation name] is(are) confirmatory for [disease name]:
* [Finding 1]
* [Finding 2]
 
===== Sequence of Diagnostic Studies =====
The [name of investigation] must be performed when:
* The patient presented with symptoms/signs 1, 2, and 3 as the first step of diagnosis.
* A positive [test] is detected in the patient, to confirm the diagnosis.
 
OR
 
The various investigations must be performed in the following order:
* [Initial investigation]
* [2nd investigation]
 
=== Name of Diagnostic Criteria ===
 
'''It is recommended that you include the criteria in a table. Make sure you always cite the source of the content and whether the table has been adapted from another source.'''
 
[Disease name] is primarily diagnosed based on clinical presentation. There are no established criteria for the diagnosis of [disease name].
 
OR
 
There is no single diagnostic study of choice for [disease name], though [disease name] may be diagnosed based on [name of criteria] established by [...].
 
OR
 
The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].
 
OR
 
The diagnosis of [disease name] is based on the [criteria name] criteria, which includes [criterion 1], [criterion 2], and [criterion 3].
 
OR
 
[Disease name] may be diagnosed at any time if one or more of the following criteria are met:
* Criteria 1
* Criteria 2
* Criteria 3
 
OR
 
'''IF there are clear, established diagnostic criteria'''
 
The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].
 
OR
 
The diagnosis of [disease name] is based on the [criteria name] criteria, which include [criterion 1], [criterion 2], and [criterion 3].
 
OR
 
The diagnosis of [disease name] is based on the [definition name] definition, which includes [criterion 1], [criterion 2], and [criterion 3].
 
OR
 
'''IF there are no established diagnostic criteria'''
 
There are no established criteria for the diagnosis of [disease name].
 
==References==
==References==
{{Reflist|2}}
{{Reflist|2}}
{{WH}}
{{WH}}
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{{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