Sandbox:Hannan
Myeloproliferative neoplasms (MPN) | Clinical manifestations | Diagnosis | Other features | ||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 |
|
|
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)
|
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 |
|
Granulocytic dysplasia is minimal/absent | |
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)[17][18][19][20] |
|
|
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[21][22][23][24] |
|
|
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 |
|
Myeloproliferative neoplasms (MPN) | Clinical manifestations | Diagnosis | Other features | |||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Symptoms | Physical examination | CBC & Peripheral smear | Bone marrow biopsy | Gold standard | Other investigations | |||||||||||
WBCs | RBCs | Platelets | ||||||||||||||
Leukocytosis | Blasts | Left shift | Basophilia | Eosinophilia | Monocytosis | Others | ||||||||||
Myeloid/lymphoid neoplasms with eosinophilia and rearrangement of
PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2
|
||||||||||||||||
Myelodysplastic/myeloproliferative neoplasms (MDS/MPN) | Chronic myelomonocytic leukemia (CMML)[25] |
|
|
MD-CMML: WBC ≤ 13 × 109/L
MP-CMML: WBC > 13 × 109/L (FAB) |
< 20% blasts | Eosinophilia | Absolute monocytosis > 1 × 109/L (defining feature) | ↑ LDH | Anemia | Thrombocytopenia | Myelodysplastic and myeloproliferative feature | Exclusion of distinctive rearrangements and translocation i.e; Ph chromosome and presence of monocytosis | Cytogenetic analysis
Flow cytometry |
Overlapping of both, MDS and MPN | ||
Atypical chronic myeloid leukemia (aCML), BCR-ABL1-[28][29] | Similar to chronic myeloid leukemia | Similar to chronic myeloid leukemia | WBC > 13 × 109/L | <20% myeloblats | Present | <2% of leukocytes | Anemia | Thrombocytopenia | Granulocytic hyperplasia with prominent dysplasia | Cytogenetic analysis
Flow cytometry |
Granulocytic dysplasia is prominent
Absence of BCR-ABL or PDGFRA, PDGFRB, or FGFR1 rearrangements | |||||
Juvenile myelomonocytic leukemia (JMML)[30][31] |
|
|
Leukocytosis | Present | Monocytosis | ↓Serum Iron
↑vitamin B12 |
Anemia | Thrombocytopenia | Hypercelluar with ↑ myeloid cells in stages of maturation | Cytogenetic analysis
Flow cytometry |
Polyclonal hypergammaglobulinemia | |||||
MDS/MPN with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T)[32][33][34] |
|
Variable | Variable | None or minimal | None | None or minimal absolute basophilia | ↑Serum Iron | Anemia | Thrombocytosis | Hypercellularity with dyserythropoiesis and increased megakaryocytes | Cytogenetic analysis
Flow cytometry |
Large atypical megakaryocytes
Ringed sideroblasts SF3B1 mutation | ||||
MDS/MPN, unclassifiable | ||||||||||||||||
Myelodysplastic syndromes (MDS)[35][36] |
|
|
Leukopenia | None | None | Decreased | Decreased | Decreased |
|
Anemia | Thrombocytosis | Hypercellular
/ normocellular bone marrow with dysplastic changes |
Cytogenetic analysis
Flow cytometry |
Leukemia transformation | ||
Acute myeloid leukemia (AML) and related neoplasms
|
||||||||||||||||
Blastic plasmacytoid dendritic cell neoplasm | ||||||||||||||||
B-lymphoblastic leukemia/lymphoma[37][38] |
|
|
Variable | >25% blasts | Variable | Variable | Variable | Auer bodies | Anemia | Thrombocytopenia | Hypercellular with blast infilteration
with or without myelodysplasia |
Bone marrow aspiration and biopsy | Cytogenetic analysis
Flow cytometry FISH |
May present as extramedullary disease (Myeloid sarcoma) | ||
T-lymphoblastic leukemia/lymphoma
|
T-lymphoblastic leukemia/lymphoma[39][40][41] |
|
|
Variable,
often leukocytosis |
>25% blasts (Leukemia)
<25% blasts (Lymphoma) |
Variable | Variable | Variable | Variable | ↑ LDH
Positivite for TdT |
Variable | Variable | Bone marrow and tissue aspiration and biopsy | Cytogenetic analysis
Flow cytometry FISH |
May involve brain, skin, and testes. | |
Provisional entity: Natural killer (NK) cell lymphoblastic leukemia/lymph | ||||||||||||||||
Provisional entity: Early T-cell precursor lymphoblastic leukemia |
- 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) - ↑ Vidyadharan S, Joseph B, Nair SP (2016). "Chronic Eosinophilic Leukemia Presenting Predominantly with Cutaneous Manifestations". Indian J Dermatol. 61 (4): 437–9. doi:10.4103/0019-5154.185716. PMC 4966405. PMID 27512192.
- ↑ Hofmans M, Delie A, Vandepoele K, Van Roy N, Van der Meulen J, Philippé J, Moors I (2018). "A case of chronic eosinophilic leukemia with secondary transformation to acute myeloid leukemia". Leuk Res Rep. 9: 45–47. doi:10.1016/j.lrr.2018.04.001. PMC 5993353. PMID 29892549.
- ↑ Yamada Y, Rothenberg ME, Cancelas JA (2006). "Current concepts on the pathogenesis of the hypereosinophilic syndrome/chronic eosinophilic leukemia". Transl Oncogenomics. 1: 53–63. PMC 3642145. PMID 23662039.
- ↑ Kim TH, Gu HJ, Lee WI, Lee J, Yoon HJ, Park TS (September 2016). "Chronic eosinophilic leukemia with FIP1L1-PDGFRA rearrangement". Blood Res. 51 (3): 204–206. doi:10.5045/br.2016.51.3.204. PMID 27722133.
- ↑ 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.
- ↑ Patnaik MM, Tefferi A (June 2016). "Chronic myelomonocytic leukemia: 2016 update on diagnosis, risk stratification, and management". Am. J. Hematol. 91 (6): 631–42. doi:10.1002/ajh.24396. PMID 27185207.
- ↑ Parikh SA, Tefferi A (June 2012). "Chronic myelomonocytic leukemia: 2012 update on diagnosis, risk stratification, and management". Am. J. Hematol. 87 (6): 610–9. doi:10.1002/ajh.23203. PMID 22615103.
- ↑ Benton CB, Nazha A, Pemmaraju N, Garcia-Manero G (August 2015). "Chronic myelomonocytic leukemia: Forefront of the field in 2015". Crit. Rev. Oncol. Hematol. 95 (2): 222–42. doi:10.1016/j.critrevonc.2015.03.002. PMC 4859155. PMID 25869097.
- ↑ Dao KH, Tyner JW (2015). "What's different about atypical CML and chronic neutrophilic leukemia?". Hematology Am Soc Hematol Educ Program. 2015: 264–71. doi:10.1182/asheducation-2015.1.264. PMC 5266507. PMID 26637732.
- ↑ Muramatsu H, Makishima H, Maciejewski JP (February 2012). "Chronic myelomonocytic leukemia and atypical chronic myeloid leukemia: novel pathogenetic lesions". Semin. Oncol. 39 (1): 67–73. doi:10.1053/j.seminoncol.2011.11.004. PMC 3523950. PMID 22289493.
- ↑ Aricò M, Biondi A, Pui CH (July 1997). "Juvenile myelomonocytic leukemia". Blood. 90 (2): 479–88. PMID 9226148.
- ↑ Hasle H (March 1994). "Myelodysplastic syndromes in childhood--classification, epidemiology, and treatment". Leuk. Lymphoma. 13 (1–2): 11–26. doi:10.3109/10428199409051647. PMID 8025513.
- ↑ Patnaik MM, Tefferi A (March 2017). "Refractory anemia with ring sideroblasts (RARS) and RARS with thrombocytosis (RARS-T): 2017 update on diagnosis, risk-stratification, and management". Am. J. Hematol. 92 (3): 297–310. doi:10.1002/ajh.24637. PMID 28188970.
- ↑ Alshaban A, Padilla O, Philipovskiy A, Corral J, McAlice M, Gaur S (2018). "Lenalidomide induced durable remission in a patient with MDS/MPN-with ring sideroblasts and thrombocytosis with associated 5q- syndrome". Leuk Res Rep. 10: 37–40. doi:10.1016/j.lrr.2018.08.001. PMID 30186759.
- ↑ Bouchla A, Papageorgiou SG, Tsakiraki Z, Glezou E, Pavlidis G, Stavroulaki G, Bazani E, Foukas P, Pappa V (2018). "Plasmablastic Lymphoma in an Immunocompetent Patient with MDS/MPN with Ring Sideroblasts and Thrombocytosis-A Case Report". Case Rep Hematol. 2018: 2525070. doi:10.1155/2018/2525070. PMC 6247723. PMID 30524760.
- ↑ Germing U, Kobbe G, Haas R, Gattermann N (November 2013). "Myelodysplastic syndromes: diagnosis, prognosis, and treatment". Dtsch Arztebl Int. 110 (46): 783–90. doi:10.3238/arztebl.2013.0783. PMC 3855821. PMID 24300826.
- ↑ Gangat N, Patnaik MM, Tefferi A (January 2016). "Myelodysplastic syndromes: Contemporary review and how we treat". Am. J. Hematol. 91 (1): 76–89. doi:10.1002/ajh.24253. PMID 26769228.
- ↑ Kamiya-Matsuoka C, Garciarena P, Amin HM, Tremont-Lukats IW, de Groot JF (December 2013). "B lymphoblastic leukemia/lymphoma presenting as seventh cranial nerve palsy". Neurol Clin Pract. 3 (6): 532–534. doi:10.1212/CPJ.0b013e3182a78ef0. PMC 6082360. PMID 30107017.
- ↑ Zhang X, Rastogi P, Shah B, Zhang L (September 2017). "B lymphoblastic leukemia/lymphoma: new insights into genetics, molecular aberrations, subclassification and targeted therapy". Oncotarget. 8 (39): 66728–66741. doi:10.18632/oncotarget.19271. PMC 5630450. PMID 29029550.
- ↑ You MJ, Medeiros LJ, Hsi ED (September 2015). "T-lymphoblastic leukemia/lymphoma". Am. J. Clin. Pathol. 144 (3): 411–22. doi:10.1309/AJCPMF03LVSBLHPJ. PMID 26276771.
- ↑ Patel KJ, Latif SU, de Calaca WM (March 2009). "An unusual presentation of precursor T cell lymphoblastic leukemia/lymphoma with cholestatic jaundice: case report". J Hematol Oncol. 2: 12. doi:10.1186/1756-8722-2-12. PMC 2663564. PMID 19284608.
- ↑ Elreda L, Sandhu M, Sun X, Bekele W, Cohen AJ, Shah M (2014). "T-cell lymphoblastic leukemia/lymphoma: relapse 16 years after first remission". Case Rep Hematol. 2014: 359158. doi:10.1155/2014/359158. PMC 4005062. PMID 24822133.