Sandbox:Hannan

Revision as of 17:02, 16 January 2019 by Hannan Javed (talk | contribs)
Jump to navigation Jump to search
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

(CML), BCR-ABL1+[1][2]

  • Asymptomatic
  • Constitutional symptoms
  • Hyperviscosity and/or anemia related
  • Bleeding
  • Infection
  • Splenomegaly (46–76%)
  • Purpura
  • Anemia related
  • Priapism
 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
  • Hypercellurarity with ↑ granuloscytosis and ↓ erythrocytosis
  • Fibrosis
 Marrow aspirate & unilateral biopsy with cytogenetics and flow cytometry
  • FISH for t(9;22)(q34;q11.2)
  • Reverse transcriptase quantitative PCR (RQ-PCR) for BCR-ABL
Chronic neutrophilic leukemia (CNL)[3][4][5]
  • Asymptomatic
  • Constitutional symptoms
  • Bleeding
  • Infection
  • Splenomegaly
  • Heptomegaly
  • Purpura
  • Anemia related
 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]
  • Constitutional
  • Thromboembolism and bleeding
  • Pruritus after a warm bath
  • PUD related
  • Facial ruddiness
  • Related to underlying cause
  • Splenomegaly
  • Renal bruit
 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]
  • Constitutional
  • Anemia related
  • Bleeding
  • Infection
  • Abdominal Pain
  • Hepatosplenomegaly
  • Petechiae & ecchymoses
  • Abdominal distension
  • Lymphadenopathy
 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)
Chronic eosinophilic leukemia, not otherwise specified (NOS)
MPN, unclassifiable
Mastocytosis[14][15][16][17]
  • Constitutional
  • Pruritus & Flushing
  • Urticaria & Blisters
  • Hypotension & PUD
  • Bleeding
  • Bronchoconstriction
  • Mastocytosis exanthema
  • Blistering
  • Swelling
  • Lymphadenopathy
  • Bleeding
  • Fibrosis
 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

  • Skin most commonly involved
  • Susceptibility to anaphylaxix
  • Osteoporosis
Other myeloid neoplasm and acute leukemia Clinical manifestations Diagnosis Other features
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

  • Myeloid/lymphoid neoplasms with PDGFRA rearrangement
  • Myeloid/lymphoid neoplasms with PDGFRB rearrangement
  • Myeloid/lymphoid neoplasms with FGFR1 rearrangement
  • Provisional entity: Myeloid/lymphoid neoplasms with PCM1-JAK
Myelodysplastic/myeloproliferative neoplasms (MDS/MPN)
  • Chronic myelomonocytic leukemia (CMML)
  • Atypical chronic myeloid leukemia (aCML), BCR-ABL1-
  • Juvenile myelomonocytic leukemia (JMML)
  • MDS/MPN with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T)
  • MDS/MPN, unclassifiable
Myelodysplastic syndromes (MDS)
  • MDS with single lineage dysplasia
  • MDS with ring sideroblasts (MDS-RS)
  • MDS-RS and single lineage dysplasia
  • MDS-RS and multilineage dysplasia
  • MDS with multilineage dysplasia
  • MDS with excess blasts
  • MDS with isolated del(5q)
  • MDS, unclassifiable
  • Provisional entity: Refractory cytopenia of childhood
  • Myeloid neoplasms with germ line predisposition
Acute myeloid leukemia (AML) and related neoplasms
  • AML with recurrent genetic abnormalities
  1. AML with t(8;21)(q22;q22.1);RUNX1-RUNX1T1
  2. AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22);CBFB-MYH11
  3. APL with PML-RARA
  4. AML with t(9;11)(p21.3;q23.3);MLLT3-KMT2A
  5. AML with t(6;9)(p23;q34.1);DEK-NUP214
  6. AML with inv(3)(q21.3q26.2) or t(3;3)(q21.3;q26.2);GATA2, MECOM
  7. AML (megakaryoblastic) with t(1;22)(p13.3;q13.3);RBM15-MKL1
  8. Provisional entity: AML with BCR-ABL1
  9. AML with mutated NPM1
  10. AML with biallelic mutations of CEBPA
  11. Provisional entity: AML with mutated RUNX1
  • AML with myelodysplasia-related changes
  • Therapy-related myeloid neoplasms
  • AML, NOS
  1. AML with minimal differentiation
  2. AML without maturation
  3. AML with maturation
  4. Acute myelomonocytic leukemia
  5. Acute monoblastic/monocytic leukemia
  6. Pure erythroid leukemia
  7. Acute megakaryoblastic leukemia
  8. Acute basophilic leukemia
  9. Acute panmyelosis with myelofibrosis
  • Myeloid sarcoma
  • Myeloid proliferations related to Down syndrome
  1. Transient abnormal myelopoiesis (TAM)
  2. Myeloid leukemia associated with Down syndrome
Blastic plasmacytoid dendritic cell neoplasm
Acute leukemias of ambiguous lineage
  • Acute undifferentiated leukemia
  • Mixed phenotype acute leukemia (MPAL) with t(9;22)(q34.1;q11.2);BCR-ABL1
  • MPAL with t(v;11q23.3);KMT2A rearranged
  • MPAL, B/myeloid, NOS
  • MPAL, T/myeloid, NO
B-lymphoblastic leukemia/lymphoma
  • B-lymphoblastic leukemia/lymphoma, NOS
  • B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormalities
  • B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2);BCR-ABL1
  • B-lymphoblastic leukemia/lymphoma with t(v;11q23.3);KMT2A rearranged
  • B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1);ETV6-RUNX1
  • B-lymphoblastic leukemia/lymphoma with hyperdiploidy
  • B-lymphoblastic leukemia/lymphoma with hypodiploidy
  • B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) IL3-IGH
  • B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3);TCF3-PBX1
  • Provisional entity: B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like
  • Provisional entity: B-lymphoblastic leukemia/lymphoma with iAMP
T-lymphoblastic leukemia/lymphoma
  • Provisional entity: Early T-cell precursor lymphoblastic leukemia
  • Provisional entity: Natural killer (NK) cell lymphoblastic leukemia/lymph
  • 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

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ 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.
  4. ↑ 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.
  5. ↑ 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.
  6. ↑ 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.
  7. ↑ Pillai AA, Babiker HM. PMID 30252337. Missing or empty |title= (help)
  8. ↑ 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.
  9. ↑ 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.
  10. ↑ 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.
  11. ↑ Hoffman, Ronald (2018). Hematology : basic principles and practice. Philadelphia, PA: Elsevier. ISBN 9780323357623.
  12. ↑ 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.
  13. ↑ Hoffman, Ronald (2018). Hematology : basic principles and practice. Philadelphia, PA: Elsevier. ISBN 9780323357623.
  14. ↑ 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.
  15. ↑ Macri A, Cook C. PMID 29494109. Missing or empty |title= (help)
  16. ↑ 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.
  17. ↑ 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.
Retrieved from "https://www.wikidoc.org/index.php?title=Sandbox:Hannan&oldid=1536613"