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Myeloproliferative neoplasms (MPN) are a group of slow-growing blood cancers, including chronic myelogenous leukemia (CML). MPNs present with clonal proliferation of abnormal hematopoietic cells that involve bone marrow and peripheral blood.
| 2008 WHO Classification of Myeloid Neoplasms and Acute Leukemia |
|---|
Myeloproliferative neoplasms (MPN)
|
| Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRα, PDGFRβ, or FGFR1 |
Myelodysplastic/myeloproliferative neoplasms
|
| Myelodysplastic syndromes (MDS) |
| Acute myeloid leukemia (AML) and related precursor neoplasms |
| AML with myelodysplasia-related changes |
| Therapy-related myeloid neoplasms |
| AML, NOS |
| 1Considered classic MPN 2Provisional listing; subject to change |
Myeloproliferative neoplasms are extremely rare in children.
Tests generally appear in the order most useful for common clinical situations
| Test name: CBC with Platelet Count & Automated Differential |
| ARUP #: 0040003 |
| Methodology: Automated Cell Count with Flow Cell Differential |
| Use: Initial screening for MPN |
| Test name: Erythropoietin |
| ARUP #: 0050227 |
| Methodology: Quantitative Chemiluminescent Immunoassay |
| Use: Initial testing for MPN Use to identify or exclude PV (polycythemia vera) - minor criteria |
| Test name: Uric Acid, Serum or Plasma |
| ARUP #: 0020026 |
| Methodology: Quantitative Spectrophotometry |
| Use: Initial testing for MPN |
| Test name: Lactate Dehydrogenase, Serum or Plasma |
| ARUP #: 0020006 |
| Methodology: Quantitative Enzymatic |
| Use: Initial testing for MPN |
| Test name: Eosinophilia Panel by FISH |
| ARUP #: 2002378 |
| Methodology: Fluorescence in situ Hybridization |
| Use: Workup for myeloid neoplasm associated with eosinophilia Hematopoietic neoplasms with specific recurrent genetic changes that can be detected with this test include CBFB rearranged AML (previously known as M4) and myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRalpha, PDGFRbeta and FGFR1 |
| Limitations: Panel detects only specific aberrations in the chromosomes of interest for diagnosis and prognosis Chromosome alterations outside the regions complementary to these FISH probes will not be detected |
| Test name: Myeloproliferative Disorders Panel by FISH |
| ARUP #: 2002360 |
| Methodology: Fluorescence in situ Hybridization |
| Use: Detect specific recurrent genomic aberrations in MPN Hematopoietic neoplasms with specific recurrent genetic changes that can be detected with this test include CML and myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRalpha, PDGFRbeta and FGFR1 |
| Limitations: Panel detects only specific aberrations in the chromosomes of interest for diagnosis and prognosis Chromosome alterations outside the regions complementary to these FISH probes will not be detected |
| Test name: Chromosome Analysis, Bone Marrow |
| ARUP #: 2002292 |
| Methodology: Giemsa-Band Analysis |
| Use: Detect chromosome abnormalities in bone marrow aspirate consistent with an MPN Can also aid in distinguishing this class of hematologic disorders from CML |
| Follow-up: Repeat testing as clinically indicated to monitor disease progression |
| Test name: Chromosome FISH, Interphase |
| ARUP #: 2002298 |
| Methodology: Fluorescence in situ Hybridization |
| Use: Monitor disease and identify specific abnormalities consistent with an MPN Specific FISH probes must be requested and for this indication include PDGFRalpha, PDGFRbeta, +8, +9, 20q deletion, monosomy 7/7q deletion, 5q deletion, and 13q deletion |
| Limitations: Limit of detection is probe dependent and around 2-5% in interphase nuclei Many of these abnormalities can also be detected in MDS and AML and are therefore not sufficient for diagnosis but are consistent with the suspected diagnosis (exception is PDGFRalpha and PDGFRbeta, which are specific for MPNs) |
| Follow-up: Repeat testing as clinically indicated to monitor disease progression |
| Test name: JAK2 Gene, V617F Mutation, Qualitative |
| ARUP #: 0051245 |
| Methodology: Polymerase Chain Reaction |
| Use: Identify the non-CML subgroup of MPNs |
| Limitations: Not diagnostic of any single MPN Negative result does not rule out the presence of a JAK2 c.1849G>T (V61F) mutation nor the possible diagnosis of PV, ET or PMF Mutation has been correlated to disease state in >95% of PV and 50% of PMF (primary myelofibrosis) and ET (essential thrombocythemia) patients Quantification limit for this assay is approximately 1/400 cells harboring the mutation Mutation must exist within the granulocyte population to be detected |
| Follow-up: Bone marrow biopsy Can confirm result with JAK2 (V617F) mutation, quantitation testing |
| Test name: JAK2 Gene, V617F Mutation, Quantitation |
| ARUP #: 0040168 |
| Methodology: Polymerase Chain Reaction |
| Use: Identifies allelic burden; if >50% patient is homozygous for the mutation in at least some progenitors Clinical sensitivity - >90% in PV, 50% in ET Absolute amount of JAK2 (V617F) mutation correlates with risk of thrombosis, marrow fibrosis and survival |
| Limitations: Limit of detection is 0.1% Not intended to be used as the sole means for clinical diagnosis or patient management decisions |
| Follow-up: Bone marrow biopsy |
| Test name: JAK2 Gene, V617F Mutation, Quantitative with Reflex to MPL, Codon 515 Mutation Detection, Quantitative |
| ARUP #: 2005602 |
| Methodology: Polymerase Chain Reaction |
| Use: Diagnose MPN in patient suspected of having a myeloproliferative disease (PV, ET, or idiopathic myelofibrosis) |
| Test name: JAK2 Exon 12 Mutation Analysis by PCR |
| ARUP #: 2002357 |
| Methodology: Polymerase Chain Reaction |
| Use: Identify the non-CML subgroup of MPN |
| Test name: MPL codon 515 Mutation Detection by Pyrosequencing, Quantitative |
| ARUP #: 2005545 |
| Methodology: Polymerase Chain Reaction/Quantitative Pyrosequencing |
| Use: Detect and quantitate MPL codon 515 in PMF and ET |
| Test name: CD117 (c-Kit) by Immunohistochemistry |
| ARUP #: 2003806 |
| Methodology: Immunohistochemistry |
| Use: Aid in histologic diagnosis of MPN Stained and returned to client pathologist; consultation available if needed |
| Test name: CD25 by Immunohistochemistry |
| ARUP #: 2003544 |
| Methodology: Immunohistochemistry |
| Use: Aid in histologic diagnosis of MPN Stained and returned to client pathologist; consultation available if needed |
| Test name: Oxygen Dissociation (P50) by Hemoximetry |
| ARUP #: 2002984 |
| Methodology: Spectrophotometry/Clark Electrode |
| Use: Use when JAK2 testing negative and polycythemia present |
| Test name: von Hippel-Lindau (VHL) Sequencing |
| ARUP #: 2002970 |
| Methodology: Polymerase Chain Reaction/Sequencing |
| Use: Use when JAK2 testing negative and polycythemia present |
| Limitations: Large deletions and duplications, deep intronic mutations, and regulatory region mutations are not detected Rare diagnostic errors may occur due to primer-site mutations Polycythemia due to causes other than VHL gene mutations will not be detected |
| Test name: BCR-ABL1, Qualitative with Reflex to BCR-ABL1 Quantitative |
| ARUP #: 2005010 |
| Methodology: Reverse Transcription Polymerase Chain Reaction |
| Use: Detect presence of BCR-ABL1 fusion when form is unknown or is unclear If p210 or p190 fusion is detected, the appropriate quantitative test will be performed |
| Test name: Vitamin B12 & Folate |
| ARUP #: 0070160 |
| Methodology: Quantitative Chemiluminescent Immunoassay |
| Comments: Rule out alternate cause of anemia |
| Test name: Iron & Iron Binding Capacity |
| ARUP #: 0020420 |
| Methodology: Quantitative Spectrophotometry/Calculation |
| Comments: Rule out alternate cause of anemia |
| Test name: Thyroid Stimulating Hormone |
| ARUP #: 0070145 |
| Methodology: Quantitative Electrochemiluminescent Immunoassay |
| Comments: Rule out alternate cause of anemia |
| Test name: Urea Nitrogen, Serum or Plasma |
| ARUP #: 0020023 |
| Methodology: Quantitative Spectrophotometry |
| Comments: Rule out alternate cause of anemia |
| Test name: Creatinine, Serum or Plasma |
| ARUP #: 0020025 |
| Methodology: Quantitative Enzymatic |
| Comments: Rule out alternate cause of anemia |
| Test name: Hepatic Function Panel |
| ARUP #: 0020416 |
| Methodology: Refer to individual components. |
| Comments: Rule out alternate cause of anemia |