Linfoma burkitt-like em um lactente: relato de caso

Os linfomas não Hodgkin da infância, incluindo os linfomas de Burkitt e Burkitt-like são raros em lactentes. Um caso de linfoma não Hodgkin B em uma lactente de 13 meses de idade é descrito. Ao diagnóstico a paciente apresentava extenso comprometimento abdominal associado à ascite, derrame pleural e síndrome de lise tumoral. A análise imunofenotípica mostrou um fenótipo compatível com células linfóides oriundas do centro germinativo e a origem clonal dessas células foi demonstrada por reação em cadeia da polimerase. Não foi demonstrada associação do linfoma com infecção pelo vírus Epstein-Barr e/ou virus da imunodeficiência adquirida. O caso apresentado enfatiza a necessidade de considerar o diagnóstico de linfoma mesmo em lactentes.Childhood non-Hodgkin's lymphomas, including Burkitt and Burkitt-like, are rarely diagnosed in infants. A case of B-cell lymphoma in a 13-month-old girl with extensive abdominal disease, ascites, pleural effusion, and tumor lysis syndrome is reported. Phenotypic analysis showed a germinal center B-cell phenotype, and a B-cell clonality was confirmed by polymerase chain reaction. There was no evidence of Epstein-Barr and HIV infection. The case herein reported emphasizes the need for considering the diagnosis of lymphoma even in very young children

Use of V H, D and J H immunoglobulin gene segments in Brazilian patients with chronic lymphocytic leukaemia (CLL)

Chronic lymphocytic leukaemia (CLL) is a haematological malignancy for which reliable prognostic markers are needed in view of its clinical heterogeneity. In approximately 50% 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% homology cut-off with germinal sequences showed 18 patients (48.7%) 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

Familial Myelodysplastic/Acute Leukemia Syndromes—Myeloid Neoplasms with Germline Predisposition

Although most cases of myeloid neoplasms are sporadic, a small subset has been associated with germline mutations. The 2016 revision of the World Health Organization classification included these cases in a myeloid neoplasm group with a predisposing germline mutational background. These patients must have a different management and their families should get genetic counseling. Cases identification and outline of the major known syndromes characteristics will be discussed in this text