RESUMO
Mutational profiling has demonstrated utility in predicting the likelihood of disease progression in patients with myelofibrosis (MF). However, there is limited data regarding the prognostic utility of genetic profiling in MF patients undergoing allogeneic hematopoietic stem cell transplantation (allo-HCT). We performed high-throughput sequencing of 585 genes on pre-transplant samples from 101 patients with MF who underwent allo-HCT and evaluated the association of mutations and clinical variables with transplantation outcomes. Overall survival (OS) at 5 years post-transplantation was 52%, and relapse-free survival (RFS) was 51.1 % for this cohort. Nonrelapse mortality (NRM) accounted for most deaths. Patient's age, donor's age, donor type, and Dynamic International Prognostic Scoring System score at diagnosis did not predict for outcomes. Mutations known to be associated with increased risk of disease progression, such as ASXL1, SRSF2, IDH1/2, EZH2, and TP53, did not impact OS or RFS. The presence of U2AF1 (P = .007) or DNMT3A (P = .034) mutations was associated with worse OS. A Mutation-Enhanced International Prognostic Scoring System 70 score was available for 80 patients (79%), and there were no differences in outcomes between patients with high risk scores and those with intermediate and low risk scores. Collectively, these data identify mutational predictors of outcome in MF patients undergoing allo-HCT. These genetic biomarkers in conjunction with clinical variables may have important utility in guiding transplantation decision making.
Assuntos
Mielofibrose Primária/terapia , Idoso , Progressão da Doença , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Mielofibrose Primária/patologia , Prognóstico , Estudos Retrospectivos , Fatores de Risco , Resultado do TratamentoAssuntos
Proteínas de Choque Térmico HSP90/antagonistas & inibidores , Janus Quinases/metabolismo , Transtornos Mieloproliferativos/tratamento farmacológico , Transtornos Mieloproliferativos/metabolismo , Fatores de Transcrição STAT/metabolismo , Transdução de Sinais/efeitos dos fármacos , Esplenomegalia/tratamento farmacológico , Ensaios Clínicos Fase II como Assunto , Humanos , Terapia de Alvo Molecular/efeitos adversos , Terapia de Alvo Molecular/métodos , Transtornos Mieloproliferativos/diagnóstico , Transtornos Mieloproliferativos/etiologia , Esplenomegalia/metabolismo , Esplenomegalia/patologia , Resultado do TratamentoRESUMO
Purpose: While advanced medical technology and unlimited access to medical information might benefit and empower patients, these same advantages may pose some risks, especially in the cases where patients have direct access to advanced imaging studies. The aim of this work was to evaluate three domains related to patients with lower back pain: the patients' perceptions, misconceptions and the experience of anxiety-related symptoms following direct access to their thoraco-lumbar spine radiology report. An additional aim was the assessment of possible associations with catastrophization. Patients and Methods: Patients who were referred to the spine clinic, following the completion of a CT or MRI of their thoraco-lumbar spine were surveyed. Patient perceptions of the importance of having direct access to their imaging report and of the concern they attribute to the medical terms found in their report were evaluated using a set of questionnaires. The medical terms severity scores were then correlated to a reference clinical score created for the same medical terms by spine surgeons. Lastly, patients' anxiety-related symptoms and Pain Catastrophizing Scale (PCS) after reading their radiology report were evaluated. Results: Data from 162 participants (44.6% female), with mean age of 53.1 ± 15.6 years, were collected. Sixty-three percent of the patients stated that reading their report helped them gain better understanding of their medical condition and 84% agreed that having early access to the report helped improve communication with the physician. Patients' degree of concern associated with the medical terms in their imaging report ranged between 2.07 and 3.75, on a scale of 1-5. The patient's degree of concerns were significantly higher for six common medical terms and significantly lower in one, when compared to experts' opinions. A mean (± SD) of 2.86±2.79 anxiety-related symptoms was reported. The mean Pain Catastrophizing Scale (PSC) score was 29.18 ±11.86, ranging from 2 to 52. Both the degree of concerns and the number of symptoms reported were significantly associated with the PCS. Conclusion: Direct access to radiology reports might provoke anxiety symptoms, especially in patients with a tendency for catastrophic thinking. Increasing awareness amongst spine clinicians and radiologist about possible risks associated with direct access to radiology reports could contribute to preventing patients' misconceptions and unnecessary anxiety-related symptoms.