ABSTRACT
BACKGROUND: Philadelphia negative myeloproliferative neoplasms (Ph-MPN) are clonal disorders whose pathogenesis has been elucidated in recent years, creating diagnostic and prognostic algorithms. AIM: To study JAK2, CALR y MPL gene mutations in patients with Ph-MPN. MATERIALS AND METHODS: Descriptive cross-sectional observational study of patients with MPN (2015-2019), reviewing clinical, demographic and laboratory data. JAK2, CALR and MPL gene mutations were analyzed by RT-PCR. Results: We studied 72 patients. Fifty percent had essential thrombocythemia (ET), 26.4% had polycythemia vera (PV) and 23.6% had primary myelofibrosis (PM). Bone marrow biopsy was available in 76.5%. At diagnosis, the mean age was 65.5 years and 61% were symptomatic. A thrombotic event was the most frequent problem in 20% and 25% had splenomegaly. There were statistically significant differences in hematological parameters between the different MPNs. JAK2 V617F mutation was detected in 61.1%. Only 19 JAK2 V617F negative patients were available for CALR and MPL mutation studies, identifying 10 triple negative cases. Kaplan Meier curves showed a median survival of 88 months, being similar in the three MPNs. Causes of death in 20 patients were thrombotic complications in 30%, disease progression in 25%, infection in 20%, other neoplasms in 15% and other causes in 10%. CONCLUSIONS: The presentation and frequency of JAK2 V617F, CALR and MPL mutations in our cohort was similar to those reported in other studies for ET and PM. JAK2 V617F mutation was lower for PV. No significant differences between the three MPNs were observed for overall survival. We could not assess the prognostic value of the mutations.
Subject(s)
Humans , Aged, 80 and over , Polycythemia Vera/genetics , Thrombocythemia, Essential/diagnosis , Thrombocythemia, Essential/genetics , Myeloproliferative Disorders/genetics , Chile , Cross-Sectional Studies , Hospitals, Public , MutationABSTRACT
Background: Philadelphia-negative myeloproliferative neoplasms (Ph-MPN) are chronic hematological disorders characterized by the overproduction of one or more mature myeloid blood cell lineages. Classical Ph-MPN are polycythemia vera (PV), essential thrombocytopenia (ET) and primary myelofibrosis (PMF). Aim: To assess the epidemiological, clinical and diagnostic characteristics of Ph-MPN in Chile. Material and Methods: Retrospective review of medical records of all patients referred as MPN from 2012 to 2017. Patients with (9;21) translocation were excluded. Results: Data of 462 cases with a median age of 69 years from 10 public hospitals was reviewed. ET was the most frequently Ph-MNP found. The incidence of Ph-MPN was 1.5 x 100.000 cases. The JAK2 V617F mutation study was performed in 96% of patients and only 30% had a bone marrow biopsy. Thrombotic events were observed in 29% of patients. Bleeding events were observed in 7%. Five-year overall survival was 87%. Conclusions: ET is the most frequent Ph-MPN. The mean incidence was lower than reported in the literature, in part because of a sub diagnosis.
ABSTRACT
Background: Hodgkin lymphoma has a high rate of curability, even in advanced stages. Aim: To assess the results of Hodgkin lymphoma treatment using the ABVD (doxorubicin, bleomycin, vinblastine, dacarbazine) chemotherapy regimen. Material and Methods: Analysis of a database held by the Chilean Ministry of Health, including all patients treated at accredited cancer treatment centers. Results: Data for 915 patients, median age 35 years (range 15-86 years) and followed for a median of 97 months (range 1-347 months) were analyzed. Forty-one percent had localized disease. Overall survival at five years for localized and advanced stages was 92% and 74%, respectively. The figures for progression free survival were 87% and 64%, respectively. Patients with relapse who received autologous stem cell transplantation (ASCT) had a five year overall survival of 92%, compared to 64% among those who did not undergo this procedure (p < 0.01). The Guarantees in Health Program set up by the Ministry of Health, was associated with earlier stage disease at diagnosis. Conclusions: The ABVD regimen achieves high rates of cure in localized stages of the disease but the results in advanced stages are not optimal. ASCT significantly improves survival in patients with relapse. The Guarantees in Health Program is associated with earlier diagnosis of the disease.
Subject(s)
Humans , Male , Female , Adolescent , Adult , Middle Aged , Aged , Aged, 80 and over , Young Adult , Hodgkin Disease/drug therapy , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Time Factors , Vinblastine/therapeutic use , Bleomycin/therapeutic use , Hodgkin Disease/mortality , Hodgkin Disease/pathology , Doxorubicin/therapeutic use , Chile , Treatment Outcome , Hematopoietic Stem Cell Transplantation/methods , Disease-Free Survival , Dacarbazine/therapeutic use , Kaplan-Meier EstimateABSTRACT
Chronic airway obstruction (CAO) resulting from tuberculosis (TB) sequelae (CAO-TB) is a frequent condition in our population. However the information in the medical literature is scarce. The management of these patients usually follows guidelines for other illnesses such as chronic obstructive pulmonary disease (COPD) or asthma. To better characterize CAO-TB, 25 patients with this condition that never smoked nor were diagnosed having asthma, were studied by means of spirometry, arterial blood gases and 6-minute walk test. Furthermore, they were compared with 12 COPD patients with similar FEV1 values. CAO-TB patients had history of tuberculosis 35 ± 11 years earlier, and all of them presented with lung scarring in one or both upper lobes. They were younger than COPD (58 ± 11 vs 69 ± 6 y.o.; p = 0.001) and females predominated over males (20/5 vs 2/10; p = 0.001). The FEV1/FVC ratio pre- and post-bronchodilator were higher in CAO-TB than in COPD patients (67 percent ± 12 vs 54 percent ± 9 pre; p = 0.001; 65 percent ± 14 vs 51 percent ± 7; p = 0.003 post, respectively). There were no differences in the remaining spirometric indices nor in arterial blood gases. The 6-min distance walked was comparable in both groups: 343 m (69 percent) in CAO-TB and 361 m (76 percent) in COPD. There were no differences in the oxygen saturation nor in heart rate neither at the beginning nor at the end of the 6-min walk test. However, CAO-TB patients had a higher respiratory rate at the beginning (22.7 ± 4.7 vs 19.8 ± 3.1 breath/min; p = 0.05) and at the end of the walk test (27.3 ± 6.7 vs 21.9 ± 3.3; p = 0.01) than COPD patients; although the Borg dyspnoea score was not different (1 ± 0,7 vs 1 ± 0.5 initial, 3 ± 1.5 vs 2.5 ± 0.8 final). Furthermore, a significant linear correlation between respiratory rate and Borg score was found both at the beginning (r = 0.747; p < 0.001) and at the end (r = 0.507; p = 0.01) of the walk test. In conclusion, CAO-TB patients are functionally comparable to COPD patients, although they have higher respiratory rate and develop more dyspnoea because of their added restrictive impairment. In addition to spirometry, tests for assessment of dyspnoea such as 6-minute walk test must be considered, to evaluate the response to treatment in CAO-TB patients.
La limitación crónica al flujo aéreo (LCFA) secundaria a secuelas de tuberculosis (LCFA-TB) es relativamente frecuente en nuestro medio, pero la información sobre esta condición en la literatura es escasa. El manejo terapéutico de estos enfermos suele seguir las guías de otras entidades como la Enfermedad Pulmonar Obstructiva Crónica (EPOC) y el Asma Bronquial. Con el objetivo de caracterizar la LCFA-TB, 25 enfermos con esta condición, que nunca fumaron ni tuvieron asma, fueron estudiados mediante espirometría, gasometría arterial y prueba de caminata de 6 minutos. Los pacientes LCFA-TB fueron comparados con 12 pacientes EPOC que tenían un grado similar de obstrucción. Los enfermos con LCFA-TB habían presentado tuberculosis 35 ± 11 años antes y tenían lesiones fibrosas con retracción en uno o ambos lóbulos superiores. Eran más jóvenes que los pacientes con EPOC (58 ± 11 vs 69 ± 6 años; p = 0,001) y predominaban las mujeres sobre los hombres (20/5 vs 2/10; p = 0,001). La relación VEF1/CVF basal fue más elevada en los pacientes con LCFA-TB que en los con EPOC (67 por ciento ± 12 vs 54 por ciento ± 9; p = 0,001) al igual que la relación VEF1/CVF posterior a broncodilatador (65 por ciento ± 14 vs 51 por ciento ± 7; p = 0,003). No hubo diferencias en los demás índices espirométricos ni en los gases arteriales. La distancia recorrida en 6 minutos fue similar en ambos grupos de pacientes: 343 m (69 por ciento) en LCFA-TB y 361 m (76 por ciento) en EPOC. No hubo diferencias en la oximetría ni en la frecuencia cardíaca inicial ni final. En cambio, los pacientes con LCFA-TB presentaron una frecuencia respiratoria (FR) más elevada que los pacientes con EPOC, tanto al comienzo (22,7 ± 4,7 vs 19,8 ± 3,1; p = 0,05) como al final de la prueba (27,3 ± 6,7 vs 21,9 ± 3,3; p = 0,01). Aunque no hubo diferencias en el grado de disnea (escala de Borg: 1 ±0,7 vs 1 ± 0,5 inicial, 3 ± 1,5 vs 2,5 ± 0,8 final). Además, existió una correlación significativa entre la FR y los puntos de la escala de Borg al inicio de la prueba (r = 0,747; p < 0,001) y al final de ésta (r = 0,507; p = 0,01). En conclusión, los pacientes con LCFA-TB tienen un comportamiento funcional parecido a los pacientes con EPOC, aunque por el componente restrictivo de su limitación ventilatoria presentan más polipnea y tienden a desarrollar más disnea con el ejercicio. La valoración de la respuesta al tratamiento en estos enfermos debiera considerar, además de la espirometría, pruebas de evaluación de disnea como la distancia recorrida en seis minutos.