Molecular Pathology of Myeloid Neoplasms

Details

Title

Molecular Pathology of Myeloid Neoplasms

Type

Stage Two

Module code

HLS323

Requirement

Compulsory

Module objective

By the end of the training period trainees will, in respect to the molecular pathology of myeloid neoplasms be able to

• analyse, synthesise, evaluate and apply knowledge
• perform, adapt and master a range of technical and clinical skills and procedures and
• demonstrate the attitudes and behaviours necessary for professional practise as a Consultant Clinical Scientist dealing with the complexities, uncertainties and tensions of professional practise at this level.

Knowledge and understanding

By the end of the training period the trainee will be able to demonstrate the ability to analyse, evaluate and synthesise relevant knowledge and its application to their professional practice in relation to:

• Current WHO classification of myeloid neoplasms including: acute myeloid leukaemia (AML), myeloid sarcoma/chloroma, chronic myeloid leukaemia (CML), myelodysplastic syndromes (MDS), myeloproliferative disorders (MPD) including polycythaemia vera (PV), essential thrombocythaemia (ET), idiopathic myelofibrosis (IMF), systemic mastocytosis (SM), clonal hypereosinophilic syndromes (HES) and chronic neutrophilic leukaemia (CNL)
• Epidemiology and pathophysiology of myeloid neoplasms
• Clinical, histological, morphological, cell surface/cytoplasmic/nuclear markers, cytogenetic & molecular genetic characteristics of myeloid malignancies
• Clonal evolution, shared molecular characteristics and shared cellular origin of myeloid neoplasms
• Role of fusion genes caused by chromosomal translocations and inversions in the pathogenesis and clinical features of myeloid neoplasms including t(9:21) (BCR-ABL), t(15:17) (PML-RARA), t8(:21)(AML1-ETO), inv(16) (CBFB-MYH11), MLL gene fusions
• Role of chromosomal & regional gains/losses in the pathogenesis and clinical features of myeloid neoplasms including trisomy 8, del5/5q, del7/7q
• Role of specific gene mutations on the pathogenesis and clinical features of myeloid neoplasms, including NPM1, FLT3, DNMT3A, TET2, IDH1/2, SF3B1, ASXL1 and JAK2
• Minimal residual disease
• Secondary MDS and AML.

Technical and clinical skills

By the end of the training period the trainee will be able to demonstrate a critical understanding of current relevant research, theory and knowledge and its application to the performance, adaptation and mastery of the following skills to:

• Gain competence in the laboratory investigation, diagnosis and monitoring of patients with malignant myeloid disorders including:
  • Performance and interpretation of molecular diagnostic methods used in the diagnosis of myeloid neoplasms including PCR, RT-PCR, qPCR, multi-gene mutational screening approaches (including multiplex PCR and targeted caprture), next-generation sequencing, Fluorescence-in-situ hybridisation (FISH)
  • Interpretation of gene expression profiling and comparative genomic hybridisation (CGH) analyses
  • Ability to integrate molecular diagnostic findings into a fully interpretative clinical diagnostic report.

By the end of the training period the trainee will be able to apply knowledge of the molecular pathology of myeloid neoplasms to perform, adapt and master the clinical skills necessary to manage to understand the:

• clinical presentation, prognosis and therapy of myeloid neoplasms
• impact of cytogenetic and molecular characteristics on the clinical management of myeloid neoplasms
• impact of drug resistance mutations on the management of myeloid neoplasms
• role of MRD monitoring in the clinical management of myeloid neoplasms.