Clinical and molecular profile of a Brazilian cohort of patients with classical BCR-ABL1-negative myeloproliferative neoplasms.

BACKGROUND: The classical BCR-ABL1-negative myeloproliferative neoplasms (MPNs) are Polycythemia Vera (PV), Essential Thrombocythemia (ET) and Primary Myelofibrosis (PMF). In developing countries, there are few reports that truly reveal the clinical setting of these patients. Therefore, we aimed to characterize a single center MPN population with a special focus on the correct diagnosis based on the recent review of the WHO criteria for the diagnosis of myeloid neoplasms. METHODS: This retrospective study analyzed data from medical records of patients with classical BCR-ABL1-negative MPNs diagnosed from January 1997 to October 2017 and followed at the University Hospital of Ribeirão Preto Medical School. RESULTS: A total of 162 patients were assessed, 61 with PV, 50 with ET, and 51 with PMF. The mutational status analysis revealed that 113 (69.3%) harbored the JAK2V617F mutation, 23 (14.1%), the CALR mutation, and 12 (7.4%) had a triple-negative status. None of the patients were found to have mutations on the thrombopoietin receptor gene (MPL), including some ET and PMF patients who were not tested. Among the PV patients, 57 (93.5%) were positive for the JAK2V617F mutation, one (1.6%) presented an in-frame deletion JAK2 exon 12 mutation and one (1.6%) presented a missense JAK2 exon 9 mutation, not previously described. The overall survival was lower in the triple-negative patients with PMF, when compared to the JAK2V617F or CALR-mutated (p = 0.002). CONCLUSION: The frequency of somatic mutations and survival in our cohort, stratified according to the respective disease, was consistent with the literature data, despite some limitations. Further prospective epidemiological studies of MPN cohorts are encouraged in developing countries.

Is there any association between Hashimoto's thyroiditis and thyroid cancer? A retrospective data analysis.

OBJECTIVE: To evaluate the association between Hashimoto's thyroiditis (HT) and papillary thyroid carcinoma (PTC). MATERIALS AND METHODS: The patients were evaluated by ultrasonography-guided fine needle aspiration cytology. Typical cytopathological aspects and/or classical histopathological findings were taken into consideration in the diagnosis of HT, and only histopathological results were considered in the diagnosis of PTC. RESULTS: Among 1,049 patients with multi- or uninodular goiter (903 women and 146 men), 173 (16.5%) had cytopathological features of thyroiditis. Thirty-three (67.4%) out of the 49 operated patients had PTC, 9 (27.3%) of them with histopathological features of HT. Five (31.3%) out of the 16 patients with non-malignant disease also had HT. In the groups with HT, PTC, and PCT+HT, the female prevalence rate was 100%, 91.6%, and 77.8%, respectively. Mean age was 41.5, 43.3, and 48.5 years, respectively. No association was observed between the two diseases in the present study where HT occurred in 31.1% of the benign cases and in 27.3% of malignant cases (p = 0.8). CONCLUSION: In spite of the absence of association between HT and PCT, the possibility of malignancy in HT should always be considered because of the coexistence of the two diseases already reported in the literature.

OBJETIVO: Avaliar a associação entre tireoidite de Hashimoto (TH) e carcinoma papilífero da tireoide (CPT). MATERIAIS E MÉTODOS: Pacientes foram avaliados por punção aspirativa guiada pela ultrassonografia. Para TH consideraram-se aspectos característicos da citopatologia e/ou achados histopatológicos clássicos. O diagnóstico de CPT foi considerado apenas pela histopatologia. RESULTADOS: De 1.049 pacientes portadores de bócios uni-multinodulares (903 femininos e 146 masculinos), 173 (16,5%) tinham quadro citopatológico de tireoidite. Dos 49 pacientes operados, 33 (67,4%) revelaram CPT, dos quais 9 (27,3%) tinham a glândula com quadro histopatológico de TH. Dos 16 pacientes sem malignidade, 5 (31,3%) exibiam também TH. Nos grupos TH, CPT e CPT+TH, a proporção de acometimento do gênero feminino foi, respectivamente, 100%, 91,6% e 77,8%. A distribuição da média da idade (anos) nos três grupos foi 41,5, 43,3 e 48,5. Não houve associação entre as duas doenças, neste estudo, em que a TH esteve presente em 31,3% dos casos benignos e em 27,3% dos casos malignos (p = 0,8). CONCLUSÃO: Não houve associação entre TH e CPT, mas a possibilidade de malignidade em TH deve ser sempre lembrada em razão da concomitância das duas doenças, já revelada na literatura.