ABSTRACT
Chronic lymphocytic leukaemia (CLL) is a haematological malignancy for which reliable prognostic markers are needed in view of its clinical heterogeneity. In approximately 50 percent of CLL patients, immunoglobulin (Ig) rearrangements are modified by somatic hypermutation (SHM), a process that represents a reliable prognostic indicator of favourable progression. In this study, we investigated SHM in 37 Brazilian CLL patients and identified the preferential involvement of specific immunoglobulin gene families and segments through PCR-amplified fragments or subcloned fragments. Forty-one rearrangements were observed and 37 of them were functional. A 98 percent homology cut-off with germinal sequences showed 18 patients (48.7 percent) with SHM. Unmutated cases showed a poorer clinical outcome. V H3 was the most frequent V H family, followed by V H4. The V H4-39 segment was the most frequently used, mainly in unmutated cases, while the V H3 family was predominant in mutated cases. The D3 and J H4/J H6 families were the most frequently observed.
ABSTRACT
O teste de carga viral foi concebido para acompanhar a evolução e o tratamento do paciente com diagnóstico confirmado de HIVð1. Contudo, sua especialidade diagnóstica não foi ainda avaliada em pessoas que apresentam um teste sorológico negativo. Mesmo assim, ele tem sido erroneamente utilizado para o diagnóstico da infecção primária pelo HIVð1. Este trabalho relata quatro pacientes em que a carga viral plasmática NucliSens (Organon Teknika) foi repetidamente positiva na ausência de anticorpos para HIV e chama atenção para o fato de que a carga viral abaixo de 10 mil cópias/ml é de difícil interpretação, como tem sido assinalado em numerosos artigos, em que foram utilizadas outras metodologias