Myelofibrosis diagnostic study of choice: Difference between revisions
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{{Myelofibrosis}} | {{Myelofibrosis}} | ||
{{CMG}}{{AE}}{{ | {{CMG}}{{AE}}{{Sab}} | ||
==Overview== | ==Overview== | ||
Diagnosis of myelofibrosis may be made based upon a thorough clinical evaluation, detailed patient history, and specialized tests. The World Health Organization (WHO) has set the criteria for diagnosing primary myelofibrosis (PMF). It has determined set rules for distinguishing the prefibrotic/early (pre-primary myelofibrosis) phase and the overtly fibrotic (overt primary myelofibrosis) phase. The World Health Organization (WHO) has also introduced a proposed revised criteria for primary myelofibrosis (PMF). | [[Diagnosis]] of [[myelofibrosis]] may be made based upon a thorough clinical evaluation, detailed [[patient history]], and specialized [[Test|tests]]. The [[World Health Organization|World Health Organization (WHO)]] has set the criteria for [[Diagnosis|diagnosing]] [[Primary myelofibrosis|primary myelofibrosis (PMF)]]. It has determined set rules for distinguishing the [[Prefibrotic primary myelofibrosis|prefibrotic/early (pre-primary myelofibrosis)]] phase and the overtly fibrotic (overt [[primary myelofibrosis]]) phase. The [[World Health Organization|World Health Organization (WHO)]] has also introduced a proposed revised criteria for [[Primary myelofibrosis|primary myelofibrosis (PMF)]]. | ||
==Diagnostic Criteria== | ==Diagnostic Study of Choice== | ||
===2001 World Health Organization (WHO) | |||
=== Diagnostic Criteria === | |||
====2001 World Health Organization (WHO) Criteria for Prefibrotic/Early (Pre-primary Myelofibrosis) Phase==== | |||
{| style="border: 0px; font-size: 90%; margin: 3px; width:650px" | {| style="border: 0px; font-size: 90%; margin: 3px; width:650px" | ||
|valign=top| | | valign="top" | | ||
|+ | |+ | ||
! style="background: #4479BA; width: 340px;" | {{fontcolor|#FFF|Clinical findings}} | ! style="background: #4479BA; width: 340px;" | {{fontcolor|#FFF|Clinical findings}} | ||
! style="background: #4479BA; width: 340px;" | {{fontcolor|#FFF|Morphological findings}} | ! style="background: #4479BA; width: 340px;" | {{fontcolor|#FFF|Morphological findings}} | ||
|- | |- | ||
| style="padding: 5px 5px; background: #DCDCDC;|'''Spleen and liver''' | | style="padding: 5px 5px; background: #DCDCDC;" |'''Spleen and liver''' | ||
*No or mild splenomegaly or hepatomegaly | *No or mild [[splenomegaly]] or [[hepatomegaly]] | ||
| style="padding: 5px 5px; background: #DCDCDC;" |'''Blood''' | | style="padding: 5px 5px; background: #DCDCDC;" |'''Blood''' | ||
*No or mild leukoerythroblastosis | *No or mild leukoerythroblastosis | ||
*No or mild red blood cell poikilocytosis | *No or mild [[red blood cell]] [[poikilocytosis]] | ||
*Few if any dacryocytes | *Few if any dacryocytes | ||
|- | |- | ||
| style="padding: 5px 5px; background: #DCDCDC;|'''Hematology (variable)''' | | style="padding: 5px 5px; background: #DCDCDC;" |'''Hematology (variable)''' | ||
*Mild anemia | *Mild [[anemia]] | ||
*Mild to moderate leukocytosis | *Mild to moderate [[leukocytosis]] | ||
*Mild to marked thrombocytosis | *Mild to marked [[thrombocytosis]] | ||
| style="padding: 5px 5px; background: #DCDCDC;" |'''Bone marrow''' | | style="padding: 5px 5px; background: #DCDCDC;" |'''Bone marrow''' | ||
*Hypercellularity | *Hypercellularity | ||
*Neutrophilic proliferation | *[[Neutrophil|Neutrophilic]] proliferation | ||
*Megakaryocytic proliferation | *[[Megakaryocyte|Megakaryocytic]] proliferation | ||
|} | |}<ref name="pmid17210175">{{cite journal |vauthors=Mesa RA, Verstovsek S, Cervantes F, Barosi G, Reilly JT, Dupriez B, Levine R, Le Bousse-Kerdiles MC, Wadleigh M, Campbell PJ, Silver RT, Vannucchi AM, Deeg HJ, Gisslinger H, Thomas D, Odenike O, Solberg LA, Gotlib J, Hexner E, Nimer SD, Kantarjian H, Orazi A, Vardiman JW, Thiele J, Tefferi A |title=Primary myelofibrosis (PMF), post polycythemia vera myelofibrosis (post-PV MF), post essential thrombocythemia myelofibrosis (post-ET MF), blast phase PMF (PMF-BP): Consensus on terminology by the international working group for myelofibrosis research and treatment (IWG-MRT) |journal=Leuk. Res. |volume=31 |issue=6 |pages=737–40 |date=June 2007 |pmid=17210175 |doi=10.1016/j.leukres.2006.12.002 |url=}}</ref><ref name="TefferiThiele2007">{{cite journal|last1=Tefferi|first1=A.|last2=Thiele|first2=J.|last3=Orazi|first3=A.|last4=Kvasnicka|first4=H. M.|last5=Barbui|first5=T.|last6=Hanson|first6=C. A.|last7=Barosi|first7=G.|last8=Verstovsek|first8=S.|last9=Birgegard|first9=G.|last10=Mesa|first10=R.|last11=Reilly|first11=J. T.|last12=Gisslinger|first12=H.|last13=Vannucchi|first13=A. M.|last14=Cervantes|first14=F.|last15=Finazzi|first15=G.|last16=Hoffman|first16=R.|last17=Gilliland|first17=D. G.|last18=Bloomfield|first18=C. D.|last19=Vardiman|first19=J. W.|title=Proposals and rationale for revision of the World Health Organization diagnostic criteria for polycythemia vera, essential thrombocythemia, and primary myelofibrosis: recommendations from an ad hoc international expert panel|journal=Blood|volume=110|issue=4|year=2007|pages=1092–1097|issn=0006-4971|doi=10.1182/blood-2007-04-083501}}</ref> | ||
===2001 World Health Organization (WHO) Criteria for Overtly Fibrotic (Overt Primary Myelofibrosis) Phase=== | |||
===2001 World Health Organization (WHO) | |||
{| style="border: 0px; font-size: 90%; margin: 3px; width:650px" | {| style="border: 0px; font-size: 90%; margin: 3px; width:650px" | ||
|valign=top| | | valign="top" | | ||
|+ | |+ | ||
! style="background: #4479BA; width: 340px;" | {{fontcolor|#FFF|Clinical findings}} | ! style="background: #4479BA; width: 340px;" | {{fontcolor|#FFF|Clinical findings}} | ||
! style="background: #4479BA; width: 340px;" | {{fontcolor|#FFF|Morphological findings}} | ! style="background: #4479BA; width: 340px;" | {{fontcolor|#FFF|Morphological findings}} | ||
|- | |- | ||
| style="padding: 5px 5px; background: #DCDCDC;|'''Spleen and liver''' | | style="padding: 5px 5px; background: #DCDCDC;" |'''Spleen and liver''' | ||
*Moderate to marked splenomegaly or hepatomegaly | *Moderate to marked [[splenomegaly]] or [[hepatomegaly]] | ||
| style="padding: 5px 5px; background: #DCDCDC;" |'''Blood''' | | style="padding: 5px 5px; background: #DCDCDC;" |'''Blood''' | ||
*Leukoerythroblastosis | *Leukoerythroblastosis | ||
*Prominent red blood cell poikilocytosis | *Prominent [[red blood cell]] [[poikilocytosis]] | ||
*Prominent dacryocytosis | *Prominent dacryocytosis | ||
|- | |- | ||
| style="padding: 5px 5px; background: #DCDCDC;|'''Hematology (variable)''' | | style="padding: 5px 5px; background: #DCDCDC;" |'''Hematology (variable)''' | ||
*Leukoerythroblastosis | *Leukoerythroblastosis | ||
*White blood cells decreased to elevated | *[[White blood cells]] decreased to elevated | ||
*Platelet count decreased to elevated | *[[Platelet]] count decreased to elevated | ||
| style="padding: 5px 5px; background: #DCDCDC;" |'''Bone marrow''' | | style="padding: 5px 5px; background: #DCDCDC;" |'''Bone marrow''' | ||
*Reticulin and/or collagen fibrosis | *[[Reticulin]] and/or [[collagen]] [[fibrosis]] | ||
*Decreased cellularity | *Decreased cellularity | ||
*Dilated marrow sinuses | *Dilated [[Bone marrow|marrow]] sinuses | ||
*Intraluminal hematopoiesis | *[[Intraluminal]] [[hematopoiesis]] | ||
*Neutrophilic proliferation | *[[Neutrophil|Neutrophilic]] proliferation | ||
*Prominent megakaryocytic proliferation | *Prominent [[Megakaryocyte|megakaryocytic]] proliferation | ||
*Megakaryocytic atypia* | *[[Megakaryocyte|Megakaryocytic]] atypia* | ||
*New bone formation (osteosclerosis) | *New [[bone]] formation ([[osteosclerosis]]) | ||
<sub>*Clustering of megakaryocytes, abnormally lobulated megakaryocytic nuclei, naked megakaryocytic nuclei</sub> | <sub>*Clustering of [[Megakaryocyte|megakaryocytes]], abnormally lobulated [[Megakaryocyte|megakaryocytic]] [[Cell nucleus|nuclei]], naked [[Megakaryocyte|megakaryocytic]] [[Cell nucleus|nuclei]]</sub> | ||
|} | |}<ref name="pmid17210175">{{cite journal |vauthors=Mesa RA, Verstovsek S, Cervantes F, Barosi G, Reilly JT, Dupriez B, Levine R, Le Bousse-Kerdiles MC, Wadleigh M, Campbell PJ, Silver RT, Vannucchi AM, Deeg HJ, Gisslinger H, Thomas D, Odenike O, Solberg LA, Gotlib J, Hexner E, Nimer SD, Kantarjian H, Orazi A, Vardiman JW, Thiele J, Tefferi A |title=Primary myelofibrosis (PMF), post polycythemia vera myelofibrosis (post-PV MF), post essential thrombocythemia myelofibrosis (post-ET MF), blast phase PMF (PMF-BP): Consensus on terminology by the international working group for myelofibrosis research and treatment (IWG-MRT) |journal=Leuk. Res. |volume=31 |issue=6 |pages=737–40 |date=June 2007 |pmid=17210175 |doi=10.1016/j.leukres.2006.12.002 |url=}}</ref><ref name="TefferiThiele2007">{{cite journal|last1=Tefferi|first1=A.|last2=Thiele|first2=J.|last3=Orazi|first3=A.|last4=Kvasnicka|first4=H. M.|last5=Barbui|first5=T.|last6=Hanson|first6=C. A.|last7=Barosi|first7=G.|last8=Verstovsek|first8=S.|last9=Birgegard|first9=G.|last10=Mesa|first10=R.|last11=Reilly|first11=J. T.|last12=Gisslinger|first12=H.|last13=Vannucchi|first13=A. M.|last14=Cervantes|first14=F.|last15=Finazzi|first15=G.|last16=Hoffman|first16=R.|last17=Gilliland|first17=D. G.|last18=Bloomfield|first18=C. D.|last19=Vardiman|first19=J. W.|title=Proposals and rationale for revision of the World Health Organization diagnostic criteria for polycythemia vera, essential thrombocythemia, and primary myelofibrosis: recommendations from an ad hoc international expert panel|journal=Blood|volume=110|issue=4|year=2007|pages=1092–1097|issn=0006-4971|doi=10.1182/blood-2007-04-083501}}</ref> | ||
===Proposed Revised 2016 World Health Organization (WHO) Criteria for Primary Myelofibrosis (PMF)=== | |||
{| style="border: 0px; font-size: 90%; margin: 3px; width:650px" | |||
| valign="top" | | |||
|+ | |||
! style="background: #4479BA; width: 340px;" | {{fontcolor|#FFF|Clinical findings}} | |||
|- | |||
| style="padding: 5px 5px; background: #DCDCDC;" |'''Major criteria''' | |||
#Presence of [[megakaryocyte]] proliferation and [[atypia]],* usually accompanied by either [[reticulin]] and/or [[collagen]] [[fibrosis]], or, in the absence of significant [[reticulin]] [[fibrosis]], the [[megakaryocyte]] changes must be accompanied by an increased [[bone marrow]] cellularity characterized by [[Granulocyte|granulocytic]] proliferation and often decreased [[erythropoiesis]] (ie, prefibrotic cellular-phase disease) | |||
#Not meeting [[World Health Organization|World Health Organization (WHO)]] criteria for [[Polycythemia vera|polycythemia vera (PV)]], † [[Chronic myelogenous leukemia|chronic myelogenous leukemia (CML)]], ‡ [[Myelodysplastic syndrome|myelodysplastic syndrome (MDS)]], § [[essential thrombocythemia]] or other [[myeloid]] [[neoplasm]] | |||
#Demonstration of JAK2617V>F, CALR mutation, MPL mutation, or other clonal marker, or in the absence of a clonal marker, no evidence of [[bone marrow]] [[fibrosis]] due to underlying [[Inflammation|inflammatory]] or other [[neoplastic diseases]]¶ | |||
|- | |||
| style="padding: 5px 5px; background: #DCDCDC;" |'''Minor criteria''' | |||
#Leukoerythroblastosis∥ | |||
#Increase in serum [[Lactate dehydrogenase|lactate dehydrogenase (LDH)]] level∥ | |||
#[[Anemia]]∥ | |||
#Palpable [[splenomegaly]]∥ | |||
<sub>*Small to large [[Megakaryocyte|megakaryocytes]] with an aberrant [[Cell nucleus|nuclear]]/[[Cytoplasm|cytoplasmic]] ratio and [[Hyperchromicity|hyperchromatic]], bulbous, or irregularly folded [[Cell nucleus|nuclei]] and dense clustering.</sub> | |||
<sub>†Requires the failure of [[iron]] replacement therapy to increase [[hemoglobin]] level to the [[Polycythemia vera|polycythemia vera (PV)]] range in the presence of decreased serum [[ferritin]]. Exclusion of [[Polycythemia vera|polycythemia vera (PV)]] is based on [[hemoglobin]] and [[hematocrit]] levels. [[Red blood cell|Red cell]] mass measurement is not required.</sub> | |||
<sub>‡Requires the absence of [[BCR/ABL]].</sub> | |||
<sub>§Requires the absence of [[dyserythropoiesis]] and dysgranulopoiesis.</sub> | |||
<sub>¶Secondary to [[infection]], [[Autoimmunity|autoimmune disorder]] or other [[Chronic (medical)|chronic]] [[Inflammation|inflammatory]] condition, [[hairy cell leukemia]] or other [[lymphoid]] [[neoplasm]], [[Metastasis|metastatic]] [[Cancer|malignancy]], or [[toxic]] ([[Chronic (medical)|chronic]]) [[Myelopathy|myelopathies]]. It should be noted that patients with conditions associated with reactive [[myelofibrosis]] are not [[Immunity (medical)|immune]] to [[primary myelofibrosis]] and the [[diagnosis]] should be considered in such cases if other criteria are met.</sub> | |||
<sub>∥Degree of abnormality could be borderline or marked.</sub> | |||
|} | |} | ||
*[[Diagnosis]] requires meeting all 3 major criteria and at least 1 minor criteria.<ref name="pmid17210175">{{cite journal |vauthors=Mesa RA, Verstovsek S, Cervantes F, Barosi G, Reilly JT, Dupriez B, Levine R, Le Bousse-Kerdiles MC, Wadleigh M, Campbell PJ, Silver RT, Vannucchi AM, Deeg HJ, Gisslinger H, Thomas D, Odenike O, Solberg LA, Gotlib J, Hexner E, Nimer SD, Kantarjian H, Orazi A, Vardiman JW, Thiele J, Tefferi A |title=Primary myelofibrosis (PMF), post polycythemia vera myelofibrosis (post-PV MF), post essential thrombocythemia myelofibrosis (post-ET MF), blast phase PMF (PMF-BP): Consensus on terminology by the international working group for myelofibrosis research and treatment (IWG-MRT) |journal=Leuk. Res. |volume=31 |issue=6 |pages=737–40 |date=June 2007 |pmid=17210175 |doi=10.1016/j.leukres.2006.12.002 |url=}}</ref><ref name="TefferiThiele2007">{{cite journal|last1=Tefferi|first1=A.|last2=Thiele|first2=J.|last3=Orazi|first3=A.|last4=Kvasnicka|first4=H. M.|last5=Barbui|first5=T.|last6=Hanson|first6=C. A.|last7=Barosi|first7=G.|last8=Verstovsek|first8=S.|last9=Birgegard|first9=G.|last10=Mesa|first10=R.|last11=Reilly|first11=J. T.|last12=Gisslinger|first12=H.|last13=Vannucchi|first13=A. M.|last14=Cervantes|first14=F.|last15=Finazzi|first15=G.|last16=Hoffman|first16=R.|last17=Gilliland|first17=D. G.|last18=Bloomfield|first18=C. D.|last19=Vardiman|first19=J. W.|title=Proposals and rationale for revision of the World Health Organization diagnostic criteria for polycythemia vera, essential thrombocythemia, and primary myelofibrosis: recommendations from an ad hoc international expert panel|journal=Blood|volume=110|issue=4|year=2007|pages=1092–1097|issn=0006-4971|doi=10.1182/blood-2007-04-083501}}</ref><ref>{{cite book | last = Hoffman | first = Ronald | title = Hematology : basic principles and practice | publisher = Elsevier | location = Philadelphia, PA | year = 2018 | isbn = 9780323357623 }}</ref> | |||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
[[Category: | [[Category:Medicine]] | ||
[[Category:Hematology]] | [[Category:Hematology]] | ||
[[Category:Oncology]] | [[Category:Oncology]] | ||
[[Category:Neurology]] | [[Category:Neurology]] | ||
[[Category:Neurosurgery]] | [[Category:Neurosurgery]] | ||
[[Category:Up-To-Date]] |
Latest revision as of 22:50, 29 July 2020
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Sabawoon Mirwais, M.B.B.S, M.D.[2]
Overview
Diagnosis of myelofibrosis may be made based upon a thorough clinical evaluation, detailed patient history, and specialized tests. The World Health Organization (WHO) has set the criteria for diagnosing primary myelofibrosis (PMF). It has determined set rules for distinguishing the prefibrotic/early (pre-primary myelofibrosis) phase and the overtly fibrotic (overt primary myelofibrosis) phase. The World Health Organization (WHO) has also introduced a proposed revised criteria for primary myelofibrosis (PMF).
Diagnostic Study of Choice
Diagnostic Criteria
2001 World Health Organization (WHO) Criteria for Prefibrotic/Early (Pre-primary Myelofibrosis) Phase
Clinical findings | Morphological findings |
---|---|
Spleen and liver
|
Blood
|
Hematology (variable)
|
Bone marrow
|
2001 World Health Organization (WHO) Criteria for Overtly Fibrotic (Overt Primary Myelofibrosis) Phase
Clinical findings | Morphological findings |
---|---|
Spleen and liver
|
Blood
|
Hematology (variable)
|
Bone marrow
*Clustering of megakaryocytes, abnormally lobulated megakaryocytic nuclei, naked megakaryocytic nuclei |
Proposed Revised 2016 World Health Organization (WHO) Criteria for Primary Myelofibrosis (PMF)
Clinical findings |
---|
Major criteria
|
Minor criteria
*Small to large megakaryocytes with an aberrant nuclear/cytoplasmic ratio and hyperchromatic, bulbous, or irregularly folded nuclei and dense clustering. †Requires the failure of iron replacement therapy to increase hemoglobin level to the polycythemia vera (PV) range in the presence of decreased serum ferritin. Exclusion of polycythemia vera (PV) is based on hemoglobin and hematocrit levels. Red cell mass measurement is not required. ‡Requires the absence of BCR/ABL. §Requires the absence of dyserythropoiesis and dysgranulopoiesis. ¶Secondary to infection, autoimmune disorder or other chronic inflammatory condition, hairy cell leukemia or other lymphoid neoplasm, metastatic malignancy, or toxic (chronic) myelopathies. It should be noted that patients with conditions associated with reactive myelofibrosis are not immune to primary myelofibrosis and the diagnosis should be considered in such cases if other criteria are met. ∥Degree of abnormality could be borderline or marked. |
References
- ↑ 1.0 1.1 1.2 Mesa RA, Verstovsek S, Cervantes F, Barosi G, Reilly JT, Dupriez B, Levine R, Le Bousse-Kerdiles MC, Wadleigh M, Campbell PJ, Silver RT, Vannucchi AM, Deeg HJ, Gisslinger H, Thomas D, Odenike O, Solberg LA, Gotlib J, Hexner E, Nimer SD, Kantarjian H, Orazi A, Vardiman JW, Thiele J, Tefferi A (June 2007). "Primary myelofibrosis (PMF), post polycythemia vera myelofibrosis (post-PV MF), post essential thrombocythemia myelofibrosis (post-ET MF), blast phase PMF (PMF-BP): Consensus on terminology by the international working group for myelofibrosis research and treatment (IWG-MRT)". Leuk. Res. 31 (6): 737–40. doi:10.1016/j.leukres.2006.12.002. PMID 17210175.
- ↑ 2.0 2.1 2.2 Tefferi, A.; Thiele, J.; Orazi, A.; Kvasnicka, H. M.; Barbui, T.; Hanson, C. A.; Barosi, G.; Verstovsek, S.; Birgegard, G.; Mesa, R.; Reilly, J. T.; Gisslinger, H.; Vannucchi, A. M.; Cervantes, F.; Finazzi, G.; Hoffman, R.; Gilliland, D. G.; Bloomfield, C. D.; Vardiman, J. W. (2007). "Proposals and rationale for revision of the World Health Organization diagnostic criteria for polycythemia vera, essential thrombocythemia, and primary myelofibrosis: recommendations from an ad hoc international expert panel". Blood. 110 (4): 1092–1097. doi:10.1182/blood-2007-04-083501. ISSN 0006-4971.
- ↑ Hoffman, Ronald (2018). Hematology : basic principles and practice. Philadelphia, PA: Elsevier. ISBN 9780323357623.