Sandbox:Hannan
Myeloproliferative neoplasms (MPN) | Clinical manifestations | Diagnosis | Other features | ||||||||||||
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Symptoms | Physical examination | CBC & Peripheral smear | Bone marrow biopsy | Gold standard | Other investigations | ||||||||||
WBCs | RBCs | Platelets | |||||||||||||
Leukocytosis | Blasts | Left shift | Basophilia | Eosinophilia | Monocytosis | Others | |||||||||
Chronic myeloid leukemia |
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Absolute leukocytosis (median of 100,000/µL) | Usually <2% but may present with blast crisis | Left shift with classic myelocyte bulge (myelocytes > metamyelocytes on the blood smear)
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Absolute basophilia is almost always present | Absolute eosinophilia in 90% of patients | Often present | Anemia | Platelet count is usually normal or elevated but thrombocytopenia indicates advanced stage or an alternative diagnosis |
|
Marrow aspirate & unilateral biopsy with cytogenetics and flow cytometry |
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Chronic neutrophilic leukemia (CNL)[3][4][5] |
|
|
Leukocytosis with chronic neutrophilia | Minimal to none | Significantly less than that of CML | Absent | Absent | Absent | ↑ Lactate dehydrogenase (LDH)
↑ Vitamin B12 levels |
Anemia | Thrombocytopenia | Uniforme and intense hypercellularity with minimal to none fibrosis
Neutrophil toxic granulations and Dohle bodies |
FISH
Imaging for hepatosplenomegaly |
Associationed with polycythemia vera and plasma cell disorders | |
Polycythemia vera (PV)[6][7][8][9] |
|
|
Normal to mild | None | None | May be present | May be present | Usually absent | ↓ Serum ferritin ↓ Folate levels
↑↑B12 levels |
↑↑ Hb and Hct levels (> 16 and 48%) | None to moderate | Hypercellularity for age with tri-lineage growth
Myelofibrosis (in up to 20% of patients) |
JAK2 mutation studies are diagnostic in 95% of patients | Radioisotope studies
Serum EPO levels LFTs RFTs Imaging studies |
May transform into myelofibrosis or leukemia |
Primary myelofibrosis (PMF)[10][11][12][13] |
|
|
Variable with leukocytosis or leukopenia | Erythroblasts may be seen | None | Abset | Absent | Absent | ↑ LAP
↑ LAD ↑ uric acid ↑ vitamin B12 |
Normochromic normocytic anemia | Thrombocytopenia | Variable with fibrosis or hypercellularity | JAK2 mutation
CALR mutation MPL mutation |
Bone marrow aspiration shows a dry tap | |
Essential thrombocythemia (ET)[14][15][16] |
|
|
None/may be |
None |
None |
decreased or absent basophils |
None |
None |
None |
Normocytic, normochrmoic |
Marked thrombocytosis |
Normal/Hypercellular |
JAK2 mutation CALR mutation MPL mutation |
Thrombosis Hemorrhage Pregnancy loss | |
Chronic eosinophilic leukemia, not otherwise specified (NOS) |
|
|
Leukocytosis | Present | Present | Mild basophilia | Severe eosinophilia | Mildly increased
monocytes |
↑ B12 levels
↑ LDH |
Anemia | Thrombocytopenia | Hypercelluar with ↑ eosinophilic precursors, ↑ eosinophils, and atypical mononuclear cells | Biopsy combined with peripheral eosinophilia and absence of Philadelphia chromosome | FISH
Cytogenetic analysis of purified eosinophils and X-chromosome inactivation analysis |
|
MPN, unclassifiable | Similar to other myeloproliferative neoplasms | Similar to other myeloproliferative neoplasms | Leukocytosis | Variable | Variable | Variable | Variable | Variable | May resemble other myeloproliferative neoplasms | Variable | Thrombocytosis in most cases | ↑ megakaryocyte proliferation with variable hypercellularity in granulocytic or erythrocytic cell lines | None | Similar to other myeloprolifeartive neoplasms but do not fulfil the criteria to be classified to a specific type | |
Mastocytosis[17][18][19][20] |
|
|
Leukocytosis | None | None | Eosinophilia | ↑ Alkaline phosphatase
↑ LDH |
Anemia | Thrombocytopenia or thrombocytosis | Multifocal dense infiltrates of mast cells with atypical morphology in >25 % | Bone marrow or lesional (Cutaneous mastocytosis) biopsyand histopathological studies | Cytogenetic analysis for c-KIT receptor mutations
Serum tryptase levels 24-hour urine test for N-methyl histamine and 11-beta-prostaglandine |
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Other myeloid neoplasm and acute leukemia | Clinical manifestations | Diagnosis | Other features | ||||
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Symptoms | Physical examination | Lab findings | Bone marrow biopsy | Gold standard | Other investigations | ||
Myeloid/lymphoid neoplasms with eosinophilia and rearrangement of
PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2
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Myelodysplastic/myeloproliferative neoplasms (MDS/MPN)
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Myelodysplastic syndromes (MDS)
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Acute myeloid leukemia (AML) and related neoplasms
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Blastic plasmacytoid dendritic cell neoplasm | |||||||
Acute leukemias of ambiguous lineage
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B-lymphoblastic leukemia/lymphoma
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T-lymphoblastic leukemia/lymphoma
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- 50% of patients are asymptomatic
- Clinical features are generally nonspecific such as left upper quadrant pain, early satiety, fatigue & lethargy (most common presenting symptom), weight loss, and night sweats.
- symptoms of anemia
- bleeding
- priapism
- bone pain
- Abdominal mass or fullness
- Infection
- Headache
- Dyspnoea
- Visual disturbances
- Weakness
- Arthralgia
- Cough
- Malaise
- Dizziness
- Nausea/vomiting
- Ankle oedema
- Mental change
References
- ↑ Savage DG, Szydlo RM, Goldman JM (January 1997). "Clinical features at diagnosis in 430 patients with chronic myeloid leukaemia seen at a referral centre over a 16-year period". Br. J. Haematol. 96 (1): 111–6. PMID 9012696.
- ↑ Thompson PA, Kantarjian HM, Cortes JE (October 2015). "Diagnosis and Treatment of Chronic Myeloid Leukemia in 2015". Mayo Clin. Proc. 90 (10): 1440–54. doi:10.1016/j.mayocp.2015.08.010. PMC 5656269. PMID 26434969.
- ↑ Szuber N, Tefferi A (February 2018). "Chronic neutrophilic leukemia: new science and new diagnostic criteria". Blood Cancer J. 8 (2): 19. doi:10.1038/s41408-018-0049-8. PMC 5811432. PMID 29440636.
- ↑ Maxson JE, Tyner JW (February 2017). "Genomics of chronic neutrophilic leukemia". Blood. 129 (6): 715–722. doi:10.1182/blood-2016-10-695981. PMC 5301820. PMID 28028025.
- ↑ Menezes J, Cigudosa JC (2015). "Chronic neutrophilic leukemia: a clinical perspective". Onco Targets Ther. 8: 2383–90. doi:10.2147/OTT.S49688. PMC 4562747. PMID 26366092.
- ↑ Vannucchi AM, Guglielmelli P, Tefferi A (March 2018). "Polycythemia vera and essential thrombocythemia: algorithmic approach". Curr. Opin. Hematol. 25 (2): 112–119. doi:10.1097/MOH.0000000000000402. PMID 29194068.
- ↑ Pillai AA, Babiker HM. PMID 30252337. Missing or empty
|title=
(help) - ↑ Tefferi A, Barbui T (January 2019). "Polycythemia vera and essential thrombocythemia: 2019 update on diagnosis, risk-stratification and management". Am. J. Hematol. 94 (1): 133–143. doi:10.1002/ajh.25303. PMID 30281843.
- ↑ Rumi E, Cazzola M (February 2017). "Diagnosis, risk stratification, and response evaluation in classical myeloproliferative neoplasms". Blood. 129 (6): 680–692. doi:10.1182/blood-2016-10-695957. PMC 5335805. PMID 28028026.
- ↑ Cervantes F, Correa JG, Hernandez-Boluda JC (May 2016). "Alleviating anemia and thrombocytopenia in myelofibrosis patients". Expert Rev Hematol. 9 (5): 489–96. doi:10.1586/17474086.2016.1154452. PMID 26891375.
- ↑ Hoffman, Ronald (2018). Hematology : basic principles and practice. Philadelphia, PA: Elsevier. ISBN 9780323357623.
- ↑ Michiels JJ, Bernema Z, Van Bockstaele D, De Raeve H, Schroyens W (March 2007). "Current diagnostic criteria for the chronic myeloproliferative disorders (MPD) essential thrombocythemia (ET), polycythemia vera (PV) and chronic idiopathic myelofibrosis (CIMF)". Pathol. Biol. 55 (2): 92–104. doi:10.1016/j.patbio.2006.06.002. PMID 16919893.
- ↑ Hoffman, Ronald (2018). Hematology : basic principles and practice. Philadelphia, PA: Elsevier. ISBN 9780323357623.
- ↑ Schmoldt A, Benthe HF, Haberland G (1975). "Digitoxin metabolism by rat liver microsomes". Biochem Pharmacol. 24 (17): 1639–41. PMID http://dx.doi.org/10.1182/blood-2007-04-083501 Check
|pmid=
value (help). - ↑ Daniel A. Arber, Attilio Orazi, Robert Hasserjian, Jurgen Thiele, Michael J. Borowitz, Michelle M. Le Beau, Clara D. Bloomfield, Mario Cazzola & James W. Vardiman (2016). "The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia". Blood. 127 (20): 2391–2405. doi:10.1182/blood-2016-03-643544. PMID 27069254. Unknown parameter
|month=
ignored (help) - ↑ A. Tefferi, R. Fonseca, D. L. Pereira & H. C. Hoagland (2001). "A long-term retrospective study of young women with essential thrombocythemia". Mayo Clinic proceedings. 76 (1): 22–28. doi:10.4065/76.1.22. PMID 11155408. Unknown parameter
|month=
ignored (help) - ↑ Carter MC, Metcalfe DD, Komarow HD (February 2014). "Mastocytosis". Immunol Allergy Clin North Am. 34 (1): 181–96. doi:10.1016/j.iac.2013.09.001. PMC 3863935. PMID 24262698.
- ↑ Macri A, Cook C. PMID 29494109. Missing or empty
|title=
(help) - ↑ Lladó AC, Mihon CE, Silva M, Galzerano A (2014). "Systemic mastocytosis - a diagnostic challenge". Rev Bras Hematol Hemoter. 36 (3): 226–9. doi:10.1016/j.bjhh.2014.03.003. PMC 4109736. PMID 25031064.
- ↑ Valent P, Akin C, Metcalfe DD (March 2017). "Mastocytosis: 2016 updated WHO classification and novel emerging treatment concepts". Blood. 129 (11): 1420–1427. doi:10.1182/blood-2016-09-731893. PMC 5356454. PMID 28031180.