Essential thrombocytosis laboratory findings: Difference between revisions

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{{Essential thrombocytosis}}
{{Essential thrombocytosis}}
{{CMG}}
{{CMG}}{{AE}} {{STM}}


==Overview==
==Overview==
Laboratory findings consistent with the diagnosis of essential thrombocytosis include abnormal complete blood count (elevated platelet count, leukocytosis, erythrocytosis), peripheral blood smear showing large platelets, megakaryocyte fragments and platelet aggregates, presence of ''[[JAK2]]'' mutation, and absence of ''BCR-ABL'' or [[Philadelphia chromosome]].<ref name="pmid16879015">{{cite journal| author=Sanchez S, Ewton A| title=Essential thrombocythemia: a review of diagnostic and pathologic features. | journal=Arch Pathol Lab Med | year= 2006 | volume= 130 | issue= 8 | pages= 1144-50 | pmid=16879015 | doi=10.1043/1543-2165(2006)130[1144:ET]2.0.CO;2 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16879015  }} </ref><ref name=re>Essential Thrombocythemia. Merck manual. http://www.merckmanuals.com/professional/hematology-and-oncology/myeloproliferative-disorders/essential-thrombocythemia. Accessed on November 11,2015.</ref>


==Diagnostic criteria==
==Laboratory findings==
The diagnosis of essential thrombocytosis requires the presence of a persistent thrombocytosis of greater than 600 x10<sup>9</sup>/L in the absence of an alternative cause.
Essential thrombocytosis remains a diagnosis of exclusion, after ruling out reactive or secondary causes of thrombocytosis. Laboratory tests for the diagnosis of essential thrombocytosis include the following:<ref name="pmid16879015">{{cite journal| author=Sanchez S, Ewton A| title=Essential thrombocythemia: a review of diagnostic and pathologic features. | journal=Arch Pathol Lab Med | year= 2006 | volume= 130 | issue= 8 | pages= 1144-50 | pmid=16879015 | doi=10.1043/1543-2165(2006)130[1144:ET]2.0.CO;2 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16879015  }} </ref>
*Complete blood count ([[CBC]])
**Elevated platelet count
**[[Leukocytosis]] and [[erythrocytosis]] may be present
**Red cells are [[normocytic]] and [[normochromic]], unless the patient had significant hemorrhage.
*Peripheral blood smear shows large platelets, megakaryocyte fragments and platelet aggregates.<ref name=re>Essential Thrombocythemia. Merck manual. http://www.merckmanuals.com/professional/hematology-and-oncology/myeloproliferative-disorders/essential-thrombocythemia. Accessed on November 11,2015.</ref>
*To rule out inflammatory disorders
**Erythrocyte sedimentation rate ([[ESR]]) (normal in essential thrombocytosis)
**C-reactive protein ([[CRP]]) (normal in essential thrombocytosis)
**[[Fibrinogen]] (normal in essential thrombocytosis)
*To rule out iron deficiency and [[polycythemia vera]]
**Serum [[ferritin]] (normal in essential thrombocytosis)
**[[Hematocrit]] (normal in essential thrombocytosis)


The following revised diagnostic criteria for essential thrombocytosis were proposed in 2005 <ref name=Campbell>Campbell PJ, Green AR. ''Management of Polycythemia Vera and Essential Thrombocythemia.'' Hematology (Am Soc Hematol Educ Program). 2005;:201-8. PMID 16304381</ref>. The diagnosis requires the presence of both A criteria together with B3 to B6, or of criterion A1 together with B1 to B6.
==Genetic Testing==
 
*To rule out other myeloproliferative neoplasms
* A1. Platelet count > 600 x 10<sup>9</sup>/L for at least 2 months
**''BCR-ABL'' or [[Philadelphia chromosome]]
* A2. Acquired V617F JAK2 mutation present
*To check for genetic mutations
* B1. No cause for a reactive thrombocytosis
**''JAK2'' mutation using [[PCR]]
** normal inflammatory indices
* B2. No evidence of iron deficiency
** stainable iron in the bone marrow or normal red cell mean corpuscular volume
* B3. No evidence of [[polycythemia vera]]
** hematocrit < midpoint of normal range or normal red cell mass in presence of normal iron stores
* B4. No evidence of chronic myeloid leukemia
But the Philadelphia chromosome may be present in up to 10% of cases. Patients withe the Philadelphia chromosome have a potential for the development of acute leukemia, especially acute lymphocytic leukemia.
* B5. No evidence of [[myelofibrosis]]
** no collagen fibrosis and ≤ grade 2 reticulin fibrosis (using 0–4 scale)
* B6. No evidence of a myelodysplastic syndrome
** no significant dysplasia
** no cytogenetic abnormalities suggestive of myelodysplasia


==References==
==References==
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[[Category:Disease]]
[[Category:Disease]]
[[Category:Types of cancer]]
[[Category:Types of cancer]]
[[Category:Hematology]]
[[Category:Hematology]]
[[Category:Oncology]]


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Latest revision as of 19:50, 6 January 2016

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Soujanya Thummathati, MBBS [2]

Overview

Laboratory findings consistent with the diagnosis of essential thrombocytosis include abnormal complete blood count (elevated platelet count, leukocytosis, erythrocytosis), peripheral blood smear showing large platelets, megakaryocyte fragments and platelet aggregates, presence of JAK2 mutation, and absence of BCR-ABL or Philadelphia chromosome.[1][2]

Laboratory findings

Essential thrombocytosis remains a diagnosis of exclusion, after ruling out reactive or secondary causes of thrombocytosis. Laboratory tests for the diagnosis of essential thrombocytosis include the following:[1]

  • Complete blood count (CBC)
  • Peripheral blood smear shows large platelets, megakaryocyte fragments and platelet aggregates.[2]
  • To rule out inflammatory disorders
    • Erythrocyte sedimentation rate (ESR) (normal in essential thrombocytosis)
    • C-reactive protein (CRP) (normal in essential thrombocytosis)
    • Fibrinogen (normal in essential thrombocytosis)
  • To rule out iron deficiency and polycythemia vera
    • Serum ferritin (normal in essential thrombocytosis)
    • Hematocrit (normal in essential thrombocytosis)

Genetic Testing

  • To rule out other myeloproliferative neoplasms
  • To check for genetic mutations
    • JAK2 mutation using PCR

References

  1. 1.0 1.1 Sanchez S, Ewton A (2006). "Essential thrombocythemia: a review of diagnostic and pathologic features". Arch Pathol Lab Med. 130 (8): 1144–50. doi:10.1043/1543-2165(2006)130[1144:ET]2.0.CO;2. PMID 16879015.
  2. 2.0 2.1 Essential Thrombocythemia. Merck manual. http://www.merckmanuals.com/professional/hematology-and-oncology/myeloproliferative-disorders/essential-thrombocythemia. Accessed on November 11,2015.


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