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- W2321848190 abstract "Molecular technologies have been applied not only to the investigations of haematological malignancies but also bone marrow failure syndromes, including aplastic anaemia (AA), paroxysmal nocturnal haemoglobinuria (PNH) and single lineage cytopenias, often associated with T cell large granular lymphocyte leukaemia (T-LGL). One of the main diagnostic problems is the distinction of hypoplastic clonal processes consistent with the diagnosis of myelodysplasdtic syndrome (MDS) from true idiopathic AA. Due to the paucity of the marrow, pathomorpho-logical diagnosis may be difficult and metaphase cytogenetics may not yield informative results, precluding proper diagnostic case assignment. Single nucleotide polymorphisms arrays (SNP-A) do not require cell division and may help to detect clonal chromosomal abnormalities. Systematic application of this technology has shown that chromosomal defects consistent with the diagnosis of MDS can be detected in a proportion of otherwise typical AA patients, initially or throughout the clinical course. At presentation, clonal abnormalities, in particular non-recurrent/random defects may be transient and reflect oligoclonality of the stem cell compartment rather than true malignant clonal process. Using SNP-A, submicroscopic chromosomal microdeletions can be detected; we have found recurrent microdeletions involving HLA and PIG-A loci on chromosomes 6 and X, respectively. These lesions likely evolve as a result of immune selection pressure and facilitate escape of the immune-resistant haematopoietic clones. Manifest evolution of MDS in the course of AA can be expected in up to 20% of patients with AA. The most common abnormality is monosomy-7, present in most cases of MDS derived from antedescent AA. In this context, monosomy-7 is associated with a distinct mutational pattern that includes presence of CBL mutations and RUNX1, while common mutations such as TET2, U2AF1, SRSF2 and ASXL1 are frequent in primary MDS with monosomy-7 or deletion7q. In contrast, childhood cases of juvenile myelomonocytic leukemia with monosomy-7 have a similar mutational pattern as seen in AA. Whole genome sequencing technologies including exome sequencing have led to identification of new mutations, not only in MDS but also in T-LGL which is characterised by frequent somatic activating mutation in STAT3. By ultra-deep sequencing of T cell receptor (TCR) VB chains, one can also characterise TCR repertoire and identify oligoclonal T cell mediated processes. The presence of STAT3 mutations distinguish clonal processes from semi-reactive oligoclonal T cell expansions." @default.
- W2321848190 created "2016-06-24" @default.
- W2321848190 creator A5085974329 @default.
- W2321848190 date "2012-01-01" @default.
- W2321848190 modified "2023-09-27" @default.
- W2321848190 title "Pathogenesis of aplastic anaemia and paroxysmal nocturnal haemoglobinuria: the concept of clonality in stem cell disease" @default.
- W2321848190 doi "https://doi.org/10.1016/s0031-3025(16)32675-7" @default.
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