Guidelines for cytogenetic investigations in tumours

摘要: Cytogenetic and molecular genetic data are of paramount importance in the diagnosis, prognosis, risk stratification patients with malignant diseases. Sometimes they even directly guide choice therapy.1 Disease-specific abnormalities, particularly translocations, can provide essential information to assist Pathologist and/or Oncologist assigning a diagnosis. In several diseases, tumour genetics correlate strongly clinical risk; thus, cytogenetic may help counsel patient, choose specific treatment, modulate treatment intensity. Clinical trials involve classification appropriate regimens. Currently, provision assays for acquired neoplasiaspecific genomic changes varies among within countries as range laboratories offer diagnostic solid genetics; these include Cytogenetic, Pathology, Haematology, Molecular Genetics laboratories. Technical standards general guidelines analysis report results on most tumours lacking. To address deficits, best practice meeting invited experts without conflict interest was held 23rd April 2013 Oxford, United Kingdom. The aim produce professional incorporate imposed by generic European guidelines,2 regulatory bodies (ISO15189, 2012 Medical – requirements quality competence),3 reporting guidelines,4 ISCN,5 guidelines, while taking into account current Europe. aimed principally at giving guidance minimum, standard analyses, which applicable different types operating under arrangements relevant if more recommendations not available. It universally acknowledged that ancillary techniques use (eg, RTPCR) or advanced always extensively performed all next-generation sequencing (NGS)) were considered. process developing evidence-based consensus included agreement need uniform rules reporting, discussion architecture working group formation tasks (collection, comparison any existing this subject, type be according published database consultation, method included, formulation), circulation activities, formulation initial recommendations, draft discussion, final consensus, approval. is noted some elements service subject statute varied local constraints agreements. Therefore, minimum additional judgment many circumstances. addition, new techniques, NGS, well evidence, becoming available time, should kept constant review. Notes: ‘must’ document indicates requirement ‘should’ recommendation. Where there appears contradiction between recently ones taken apply all. All accredited national internationally accepted (ISO15189).3,6 Laboratories participate an External Quality Assessment Scheme7 aspects their scheme