Myelofibrosis is the rarest and most severe type of Philadelphia-negative classical myeloproliferative neoplasms. Although mutually exclusive driver mutations in JAK2, MPL, or CALR that activate JAK-STAT pathway have been related to the pathogenesis of the disease, chromosome abnormalities have also been associated with the phenotype and prognosis of the disease. Here, we report the use of a chromosomal microarray platform consisting of both oligo and SNP probes to improve the detection of chromosome abnormalities in patients with myelofibrosis. Sixteen patients with myelofibrosis were tested, and the results were compared to karyotype analysis. Driver mutations in JAK2, MPL, or CALR were investigated by PCR and MLPA. Conventional cytogenetics revealed chromosome abnormalities in 3 out of 16 cases (18.7%), while chromosomal microarray analysis detected copy-number variations (CNV) or copy-neutral loss of heterozygosity (CN-LOH) alterations in 11 out of 16 (68.7%) patients. These included 43 CN-LOH, 14 deletions, 1 trisomy, and 1 duplication. Ten patients showed multiple chromosomal abnormalities, varying from 2 to 13 CNVs or CN-LOHs. Mutational status for JAK2, CALR, and MPL by MLPA revealed a total of 3/16 (18.7%) patients positive for the JAK2 V617F mutation, 9 with CALR deletion or insertion and 1 positive for MPL mutation. Considering that most of the CNVs identified were smaller than the karyotype resolution and the high frequency of CN-LOHs in our study, we propose that chromosomal microarray platforms that combine oligos and SNP should be used as a first-tier genetic test in patients with myelofibrosis.

Myelofibrosis (MF) is a clonal hematopoietic stem cell disorder belonging to the non-chronic-myeloid-leukemia myeloproliferative neoplasms. Cardinal features of myelofibrosis include extramedullary hematopoiesis, hepatosplenomegaly and cytopenias. The disease can occur de novo as primary MF or result from the progression of polycythemia vera or essential thrombocythemia with no differences in clinical or histological characteristics. Though several large chromosome abnormalities have been described in patients with myelofibrosis there are no previous studies screening for both CNVs and LOH (loss of heterozygosity) in patients with MF. We studied 11 patients using CytoScan platform (750k or HD- Affymetrix). This platform allows the identification of copy number variations as well as segments of loss of heterozygosity. Forty-five percent (5/11) presented pathogenic/possibly pathogenic CNVs and 72% (8/11) presented large segments of loss of heterozygosity (>10Mb). Two patients had a single CNV without any LOH. Two patients had a single LOH. All others have multiple LOH with (3) or without (4) CNVs. The most frequent abnormality was LOH of 9p (3/11) and deletion 13q (2/11). All other alterations were non-recurrent. One patient had a small deletion including exons 1 and 2 of NOTCH2, a gene known to be involved in hematological malignancies. The most frequent abnormality reported in the literature is 20q deletion. In our cohort only one patient had the 20q deletion and also had multiple complex chromosome rearrangements on chromosomes 7 and 12 and a large LOH on chromosome 3p. The study shows that CNV and LOH are frequent and may be involved in pathogenesis of the disease. However, the role of these changes in the pathogenesis are not yet clear. Disclosures No relevant conflicts of interest to declare.

A púrpura trombocitopênica trombótica (PTT) é uma doença rara e fatal que deve ser diagnosticada e tratada rapidamente, para que a melhor resposta terapêutica seja obtida. AbstractThrombotic thrombocytopenic purpura (TTP) is a rare severe disease that must be diagnosed and treated quickly so that the best therapeutic response is obtained. Recent studies indicate that the prognosys is influenced favorably by plasmaferesis, which reduces the mortality from 90 to 20%. In the first case, after eight plasmaferisis sections, there was improvement in the clinical condition .In the second case, at the fourth day, after the beginning of the treatment, the patient evolved to a neurological presentation (cerebral vascular accident), and reaching death. If not treated, the TTP is usually fatal; with treatment, more than half survive. Although it can occur as a single isolated episode, the individuals that show this disorder must be monitored with blood and physical tests during several years because sudden relapses aren't unusual and require treatment.

A síndrome látex-fruta é a forma secundária da alergia mediada pela imunoglobulina E, emque há uma sensibilização decorrente da reatividade cruzada por alérgenos não alimentares -neste caso, o látex - que possuem parte homóloga de moléculas de alimentos (como banana,abacate e abacaxi). A síndrome ocorre, em geral, com o desenvolvimento dahipersensibilidade ou alergia ao látex precedendo a alergia a frutas. As manifestações sãovariáveis, podendo ter acometimento cutâneo, gastrointestinal, respiratório e sistêmico.Dentre os principais grupos expostos e suscetíveis à sensibilização pelo látex, estão osprofissionais da saúde, visto que são expostos ao látex diariamente. Considerando aimportância da temática e déficit de estudos sobre, o objetivo do presente estudo foi avaliara prevalência de manifestações de hipersensibilidade do tipo I associadas à síndromelátex-fruta em profissionais de saúde que trabalham no Centro Universitário de Brasília eHospital Regional da Asa Norte. Foi realizada uma pesquisa do tipo descritiva, transversal ede levantamento no período de 1º de setembro de 2020 a 30 de julho de 2021. Poramostragem de conveniência, foram selecionados 84 profissionais da saúde queresponderam questões referentes às condições sociodemográficas, histórico pessoal efamiliar de hipersensibilidade, perfil de contato com látex, histórico pessoal de reações comlátex e frutas. Observou-se que 54,8% (46) dos participantes trabalha na área da saúde há 10anos ou mais e 44% (37) usa luvas de látex de 6 a 7 dias por semana, sendo que 41,7% (35)utiliza as luvas entre 4 e 8 horas por dia. No que diz respeito aos antecedentes alérgicospessoais associados, o presente estudo apresentou 65,47% (55) de participantes queapresentaram pelo menos uma manifestação alérgica. Em relação aos sinais/sintomasrelacionados ao uso das luvas de látex, os mais comuns foram o ressecamento das mãos(80%), prurido (64,3%) e eritema (23,8%). Sobre a frequência dos sinais/sintomas de acordocom a ingestão de determinadas frutas, os mais comuns foram prurido no palato, língua e/ougarganta (14,3%), e náuseas ou azia (14,3%), seguido de dor e/ou distensão abdominal(10,7%) ao ingerir alguma fruta específica. A fruta mais citada foi abacaxi, sendo seguida debanana e abacate. No contexto das manifestações relacionadas às frutas, 28,57% dosparticipantes que relataram reações alérgicas ao látex também queixaram alguma reação àingestão de frutas. Dessa forma, torna-se essencial a avaliação de profissionais que possuemexposição contínua e prolongada ao látex com teste de puntura tanto para látex quanto paraantígenos alimentares, além de mais estudos e pesquisas sobre o tema.