Comprehensive Algorithms for Cytogenomic Testing in Hematologic Malignancies
This document outlines clinical algorithms for the genetic evaluation of chronic lymphocytic leukemia (CLL), myelodysplastic syndromes (MDS), aplastic anemia, and idiopathic acquired aplastic anemia. It provides detailed protocols for genetic testing, including SNP array karyotyping, cytogenetic and myeloid mutations analysis. The algorithms help in confirming diagnoses, assessing disease progression, and guiding treatment decisions based on genetic findings. The document also includes an example report for CLL testing and eligibility criteria for lymphoid gene panel testing. Dr. Shireen Kassam is the owner of these algorithms, which were updated in November 2021.
Download Presentation
Please find below an Image/Link to download the presentation.
The content on the website is provided AS IS for your information and personal use only. It may not be sold, licensed, or shared on other websites without obtaining consent from the author. Download presentation by click this link. If you encounter any issues during the download, it is possible that the publisher has removed the file from their server.
E N D
Presentation Transcript
CytoGenomic testing: SNP-Array Karyotyping, Cytogenetic and Myeloid Mutations. Clinical Algorithms. 11/2021 Doc No: PDC-CI-003 Ed: 3.0 Issue Date: 15-Nov-2021 Review Period 1 yr Owner: Dr Shireen Kassam - Uncontrolled if printed
#1. Algorithm: CLL LPD if genetics is requested PB or BM: 1xLi Heparin and 1xEDTA Confirmed CLL: Previous diagnosis or New Case with typical morphology and immunophenotype. LPD-NOS, Diagnosis not yet confirmed eg Mantle Cell NHL/Follicular etc. Diagnostic FISH IGH/ rearrangement probes 1. New and/or Pre-treatment: SNP +/- TP53 mutation by sequencing (+/-IGHV mutation status) CLL confirmed Doc No: PDC-CI-003 Ed: 3.0 Issue Date: 15-Nov-2021 Review Period 1 yr Owner: Dr Shireen Kassam - Uncontrolled if printed
#2. Algorithm: MDS Indeterminate/Possible/Confirmed MDS: NOT therapy related and NO excess of blasts PB or BM: 1xLi Heparin and 1xEDTA 1. SNP + MGP SNP+ MGP+ or - SNP- MGP+ or - Note: All follow-up cases of confirmed MDS with disease progression eg RCMD > RAEB, RAEB-1 > RAEB-2 or RAEB > AML should have conventional cytogenetics. MGP=myeloid gene panel SNP/MGP only 2. Cyto/FISH Doc No: PDC-CI-003 Ed: 3.0 Issue Date: 15-Nov-2021 Review Period 1 yr Owner: Dr Shireen Kassam - Uncontrolled if printed
#3. Algorithm: AA/MDS Confirmed Aplastic Anaemia/MDS (With or without Blasts) FAILED Conventional Cytogenetics PB or BM: 1xLi Heparin and 1xEDTA SNP +/- MGP* (*At request of referring clinician) Doc No: PDC-CI-003 Ed: 3.0 Issue Date: 15-Nov-2021 Review Period 1 yr Owner: Dr Shireen Kassam - Uncontrolled if printed
#4. Algorithm: Idiopathic Aquired Aplastic Anaemia Aplastic Anaemia PB or BM: 1xLi Heparin and 1xEDTA Atypical features: eg 1. Acquired or constitutional AA with dysplasia 2. hMDS/AA overlap 3. Post-treatment reassessment NO YES 1. 2. SNP + MGP If excess blasts 1. SNP Cytogenetics Doc No: PDC-CI-003 Ed: 3.0 Issue Date: 15-Nov-2021 Review Period 1 yr Owner: Dr Shireen Kassam - Uncontrolled if printed
Example report for CLL Doc No: PDC-CI-003 Ed: 3.0 Issue Date: 15-Nov-2021 Review Period 1 yr Owner: Dr Shireen Kassam - Uncontrolled if printed
Lymphoid gene panel testing Patient eligibility Lymphoma subtype Genes Prior to every treatment CLL p53 Suspected ibrutinib refractory Suspected venetoclax refractory BTK/PLCG2 BCL2 Consider prior to first treatment Follicular lymphoma PLCG2, CARD11, CREBBP, EZH2, ARID1A, EP300, MEF2B, FOXO1 (M7 FLIPI) At diagnosis LPL and IgM paraprotein MYD88 and CXCR4 At diagnosis Mantle cell lymphoma p53 At diagnosis Hairy cell leukaemia BRAF All suspected diagnoses Hairy cell variant MAP2K1 At diagnosis Paediatric follicular lymphoma MAP2K1 At diagnosis AITL and other T follicular helper cell lymphomas RHOA, DNMT3A, IDH2, TET2 Consider at diagnosis PTCL NOS RHOA, DNMT3A, IDH2, TET2 At diagnosis T and NK cell proliferations where a chronic leukaemia is suspected STAT3, STAT5B At diagnosis Hepatosplenic T cell lymphoma STAT3, STAT5B At diagnosis ATLL p53 At diagnosis Histiocytosis Gene mutations and FISH panels Doc No: PDC-CI-003 Ed: 3.0 Issue Date: 15-Nov-2021 Review Period 1 yr Owner: Dr Shireen Kassam - Uncontrolled if printed
Myeloma gene panel testing Patient eligibility* Clinical criteria, decision to be made at MDM At diagnosis Age <70 years, fit for intensive treatment** At first relapse <1 year of remission from prior therapy Beyond first relapse If targetable therapies available and considered as potential next line therapy *** *Will include intermediate/high risk MGUS/SMM, suspected myeloma, plasma cell leukaemia, solitary/extramedullary plasmacytoma, AL amyloidosis and POEMs syndrome. ** To guide risk stratification e.g. consideration of tandem ASCT if TP53 mutated *** Requested by myeloma consultant Panel: NRAS, KRAS, BRAF, TP53, DIS3, FAM46C, IRF4, TET2 Doc No: PDC-CI-003 Ed: 3.0 Issue Date: 15-Nov-2021 Review Period 1 yr Owner: Dr Shireen Kassam - Uncontrolled if printed
