med fusion Hematopathology

Heme

Responsible Precision Medicine Solutions for Accurate Diagnosis and Management of Hematological Malignancies

Accurate diagnosis and prognosis of hematologic malignancies requires a broad understanding of the genetic basis of a patient’s disease. In 2016, WHO revised their classification of tumors of hematopoietic and lymphoid tissues. This revision validates an integrated approach to laboratory testing which now also includes broad molecular interrogation of the biology of the disease in order to accurately diagnose and to identify potential targets for treatment of the patient’s disease.

med fusion’s Comprehensive Hematopathology Services (HEMC) utilize a multidisciplinary, integrated approach as defined below in order to provide an accurate diagnosis. The final diagnosis along with the individual test results are summarized in an integrated report, including therapeutic and potential clinical trials according to the genetic blueprint of the patient’s disease.

1002641
Bone Marrow HEMC:

Includes morphology, flow cytometry and chromosome analysis with reflex to FISH and molecular analysis as needed

1004637
Peripheral Blood HEMCBLOOD:

Includes morphology and flow cytometry with reflex to FISH and molecular analysis as needed

med fusion utilizes Next Generation Sequencing (NGS) in order to expand the molecular interrogation of clinically actionable genetic alterations which are now known to impact survival. For example, the MPN profile examines the mutation status of ASXL1, CALR, CBL, CSF3R, EZH2, IDH1, IDH2, JAK2, MPL, SETBP1, SRSF2 and TP53 genes which provide the following diagnostic and prognostic information.

nextgensequencing

AML Profile
1016111
AML Mutation Analysis ASXL1, CEBPA, DNMT3A, ETV6 (TEL), FLT3-ITD, FLT3-TKD, IDH1, IDH2, KIT, KRAS, NPM1, NRAS, PHF6, PTEN, RUNX1, SF3B1, SRSF2, TET2, TP53, U2AF1, WT1
AML FISH Panel MLL (11q23) rearrangement, RUNX1T1(ETO)/RUNX1(AML1) t(8;21) translocation, PML/RARA t(15;17) translocation, CBFB rearrangement (inversion 16), BCR/ABL t(9;22) translocation, reflex to RUNX1 (21q22) rearrangement
CLL Profile
1016115
CLL Mutation Analysis BIRC3, BTK, MYD88, NOTCH1, PLCG2, SF3B1, TP53
CLL FISH Panel Trisomy 12, 13q deletion, TP53 (17p13) deletion, ATM (11q22.3) deletion, 6q deletion, IGH (14q32.3) rearrangement, IGH/CCND1 t(11;14) translocation, reflex to IGH/BCL2 t(14;18) translocation
DLBCL Profile
1016119
DLBCL Mutation Analysis CARD11, CD79A, CD79B, EZH2, MYD88, TNFAIP3 (A20), TP53
B-Cell Lymphoma FISH Panel MYC (8q24.1) rearrangement, BCL2 (18q21) rearrangement, BCL6 (3q27) rearrangement, IGH (14q32.3) rearrangement
MPN Profile
1016121
MPN Mutation Analysis ASXL1, CALR, CBL, CSF3R, EZH2, IDH1, IDH2, JAK2, MPL, SETBP1, SRSF2, TP53
Additional
FISH Panels
ALL FISH Panel MLL (11q23) rearrangement, BCR/ABL1 t(9; 22) translocation, ETV6(TEL)/RUNX1(AML1) t(12; 21) translocation, Aneuploidy for chromosomes 6 and 21
MDS FISH Panel Monosomy 5/deletion 5q, Monosomy 7/deletion 7q, Trisomy 8, D20S108 (20q12) deletion
Multiple Myeloma FISH Panel 1q Gain, 13q deletion, ATM (11q22.3) deletion, TP53 (17p13) deletion, IGH (14q32.3) rearrangement, IGH/CCND1 t(11;14) translocation, Aneuploidy for chromosomes 5, 9, and 15, reflex to IGH/FGFR3 t(4;14) translocation and IGH/MAF t(14;16) translocation

In addition to providing the diagnostic and prognostic relevance for the gene alterations identified, the HEMESEQ report also indicates therapeutic relevance and potential clinical trial options for the patient.

Potentially Relevant Clinical Trials

Markers Trial ID Title Phase Locations/Contact
CALR NCT02076191 Study of Combination Ruxolitinib and Decitabine Treatment for Accelerated Phase MPN or Post-MPN AML Phase 1/Phase 2 Overall contact: First Name Last Name, email address, phone #, sponsor contact information and site addresses listed.

Learn more about our Hematopathology Services.

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Sample excerpt from a HEMC report for CML

Sample excerpt from a HEMC report for CML

Sample Report 

HEMEicon-e1439838360432 

Case Study 

hemeSampleReportIMG2-e1439838344643