Diagnostic tests

The diagnosis of different variants of primary CTCL is based on a critical assessment of the clinicopathological features. Repeated biopsies may be required to establish the diagnosis, and correlation between the histology and clinical features is essential. Immunophenotypic studies are required to identify different CTCL variants, and analysis of T-cell receptor genes in DNA extracted from skin biopsies can identify a T-cell clone, which helps to confirm the diagnosis. However T-cell clones are not always detected in early stages of mycosis fungoides because of a lack of sensitivity. Investigations including a CT scan of the chest, abdomen and pelvis to exclude systemic involvement and assessment of peripheral blood for Sezary cells and lymphocyte subsets are indicated in all patients, with the exception of those with early stages of mycosis fungoides (IA/IB) and lymphomatoid papulosis.15 Bone marrow aspirate/trephine biopsies are indicated in CTCL variants but rarely in mycosis fungoides and Sezary syndrome.

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