Anemia hemolítica autoinmune en Chile: un análisis retrospectivo de 43 pacientes / Autoimmune hemolytic anemia: review of 43 cases

Background: Autoimmune hemolytic anemia (AIHA) is an uncommon disease. In its presentation, it can be severe and even lethal. There is only one clinical report concerning this pathology in Chile. Objective: To describe the clinical characteristics and evolution of adult AIHA inpatients. Materials and Methods: Retrospective review of clinical records of adult AIHA inpatients between January 2010 and June 2018 was done. Demographic, clinical, laboratory and therapeutic information was analyzed. A descriptive, analytical and survival analysis was performed. Results: Forty-three adult patients diagnosed with AHIA were hospitalized in a period of 8 years. Median age was 63 years (range 22-86 years), mostly women (72%). Warm antibodies were detected in 36 cases (84%) and cold antibodies in seven. Seventy two percent of the patients had an underlying cause, and 58% were secondary to lymphoproliferative neoplasms. All patients except two, received steroids as initial treatment, with response in 37 (90%) of them. Three refractory patients received rituximab, with response in all of them, and relapse in one. Median follow-up was 38 months (range 2-98 months). Five year overall survival was 72%. Conclusion: AHIA in adults inpatients is a heterogeneous disease, mainly due to warm antibodies, and to secondary etiology.

Evaluación del tratamiento de linfoma de Hodgkin con esquema ABVD en Chile / Treatment of Hodgkin lymphoma: analysis of 915 patients

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.

Miastenia gravis y su asociación con trastornos linfoproliferativos: casos clínicos / Myasthenia gravis and its association with lymphoproliferative disorders: a case series

Myasthenia gravis (MG) is a rare autoimmune disease of the neuromuscular junction. It is characterized by variable weakness and excessive fatigability of skeletal muscles. In the last few years, numerous reports have been published showing the association between autoimmune diseases, such as systemic erythematous lupus or rheumatoid arthritis, with lymphoid neoplasias. The association between MG and lymphoid neoplasia seems to be less frequent. To analyze this association we reviewed the MG patients in the Department of Neurology, Hospital Salvador of Santiago, Chile. During a three-year period we identified four patients who developed different lymphoproliferative disorders: two with B-cell lymphoma, one with chronic lymphocytic leukaemia and one plasmacytoma with an associated amyloidosis. The MG was generalized but mild, all cases classified as type IIa according to the definition proposed by the MG Foundation of America. The neoplasia appeared two to 36 years after the onset of MG. These cases provide additional evidence of the association between MG and lymphoproliferative disorders.

Lesiones cutáneas en mieloma múltiple: Descripción de un caso y revisión de la literatura / Cutaneous involvement in multiple myeloma: Report of one case

Cutaneous involvement in multiple myeloma (MM) is extremely rare. It may correspond to plasmocytomas, secondary amyloidosis, paraneoplastic syndromes or drug reactions. We report a 75-year-old female with skin lesions, corresponding to extramedullary plasmacytomas (EPs), as a manifestation of MM progression. Most EPs appear in the upper airway and gastrointestinal tract, but have also been described in the genitourinary tract, lung, kidney, thyroid and in 2% of cases, in the skin. Cutaneous lesions are generally associated with terminal stages of the disease and a poor prognosis.

Linfoma primario cutáneo agresivo epidermotrópico de células T citotóxicas CD8 positivo: Caso clínico / Primary cutaneous aggressive epidermotropic cytotoxic CD8 positive T cell lymphoma: Report of one case

Primary cutaneous aggressive epidermotropic cytotoxic CD8 positive T cell lymphoma, is an uncommon disease, with an aggressive clinical behavior. Differentiation with other types of cutaneous T-cell lymphoma (CTCL) that express a CD8+ cells, is based only on clinical grounds and in certain morphological characteristics, such as a marked epidermotropism with squamous cell necrosis. We report a 50-year-old male presenting with painless cutaneous lesions appearing in trunk, limbs, scalp and face, suggestive of cutaneous lymphoma. He was admitted to the hospital in bad conditions, with confluent papules and tumors, some of them ulcerated and with foul smelling honey-colored crusts, involving the complete body surface. Cutaneous biopsy demonstrated a CD8 positive epidermotropic cytotoxic T cell lymphoma. He was treated with chemotherapy with an excellent initial response, but cutaneous lesions reappeared after four cycles. He did not respond to rescue chemotherapy and died seven months after diagnosis.

Amiloidosis extrema asociada a mieloma múltiple e insuficiencia renal terminal: Caso clínico / Primary amyloidosis associated with multiple myeloma and renal failure: Case report

We report a 53-year-old female on chronic dialysis, presenting with weight loss, the development of big soft masses in the shoulders ("shoulder pads"), forearms and buttocks, macroglossia and rigidity of hands and lower limbs. Laboratory confirmed the presence of amyloidosis and myeloma with lambda chain restricted plasma cell infiltration of bone marrow. The diagnosis of multiple myeloma associated with primary amyloidosis in a patient with terminal renal failure, was reached.

Valor pronóstico del nuevo sistema de etapificación internacional en mieloma múltiple: Comparación con el sistema de Durie-Salmon / Prognostic value of the new international staging system in multiple myeloma: Comparison with Durie-Salmon staging system

Background: Since 1975, the Durie-Salmon staging system (D&S) has been a widely accepted prognostic classification of multiple myeloma (MM) patients. Recently, the new International Staging System (ISS) was developed using only the values of albumin and betaZ-microglobulin. Aim: To compare survival of patients with MM treated in six medical centers in Chile according to the D&S system and the new ISS. Material and methods: Retrospective analysis of demographic information, clinical features and survival rate of patients treated between 1998 and 2002, and grouped according to both systems. Results: Information of 81 patients aged 38 to 90 years (43 women) was retrieved. According D&S system 11 percent were in stage I 12 percent in stage II and 73 percent in stage III According to ISS, 34 percent were in stage I 35 percent in stage II and 31 percent in stage III Median of survival of all patients was 32 months. Both staging systems had a prognostic value. However, median survival for the three stages of the ISS system was significantly different (67, 29 and 14 months in stages III and III, respectively, p =0.02). Patients in advanced stages II and III of the ISS, had a higher frequency of anemia, hypercalcemia, renal failure and hypoalbuminemia. In stages II and III of ISS the presence of renal failure was associated with a non significantly different lower survival. Conclusions: The ISS is a simple and effective grouping method for patients with MM, that predicts survival. The presence of renal insufficiency might identify a subgroup of patients included in stages II and III of ISS with a higher mortality.

Mieloma múltiple en Chile: características clínicas y sobrevida / Clinical features and survival of Chilean patients with multiple myeloma

Background: Mortality rate records are the only data available in Chile about the prognosis of patients with multiple myeloma (MM). Aim To characterize clinical features, survival rate and factors related to mortality in cases with MM treated in six large medical centers in Chile. Material and Method: Retrospective analysis of demographic data, clinical features and survival rate records of patients with MM, collected between 1998 and 2002. Survival curves were generated and a multivariate analysis of factors associated to early mortality was carried out. Results: Data from 245patients aged 38 to 95years (129 women) was collected. Fifty two percent had an IgG myeloma, 25 percent had and IgA and 6.1 percent had light chains myeloma. According to Durie and Salmon staging system, 8,2 percent were in Stage 112.6 percent in Stage II, 60.5 percent in Stage III and in 18.8 percent the information about staging was not available. Fifty percent had an hemoglobin level below 10 g/dL, 30 percent had a serum creatinine over 2 mg/dL and 28 percent had a serum calcium level over 10.5 mg/dL. Median survival was 33 months. Twenty percent of patients died within the first six months after diagnosis (early mortality). Predictive factors for early mortality were male sex, thrombocytopenia, anemia, renal failure, hypercalcemia, a beta2-microglobulin >5.5 mg/L and a serum albumin level <3.5 g/dL. There was a correlation between the number of bad prognosis factors present and the probability of early mortality. Conclusions: This group of Chilean patients with MM presented a short survival time, and 20 percent died within the first six months after diagnosis. More than a half of cases were diagnosed at an advanced stage (Durie and Salmon Stage III). Several factors were associated to early mortality, two of which (beta 2-microglobulin and serum albumin), are included in the new International Staging System for MM.

Frecuencia de los genes de fusión TEL/AML1 y BCR/ABL en pacientes pediátricos con leucemia linfoblástica aguda / Frequency of TEL/AML1 and BCR/ABL fusion genes in children with acute lymphoblastic leukemia

Background: t(12;21) (p12;q22) and t(9;22) (q34;q11) translocations have prognostic significance in acute lymphoblastic leukemia (ALL). The fusion genes TEL/AML1 y BCR/ABL, generated by these translocations, can be easily detected using molecular biology technique. Aim: To study the frequency of TEL/AML1 y BCR/ABL fusion genes in children with ALL. Material and methods: Fifity six children with ALL (age range 1 month- 14 years) were studied, thirty eight from our Temuco Hospital and 18 from the Metropolitan Region. TEL/AML1 y BCR/ABL fusion genes were detected in bone marrow samples using a reverse transcriptase nested polymerase chain reaction (RT-PCR). Results: TEL/AML 1 and BCR/ABL fusion gene transcripts were detected in 13 (23 percent) and 2 (4 percent) children, respectively. No differences in survival were observed between children with positive or negative transcripts for TEL/AML1 fusion gene. However, those positive for BCR/ABL fusion gene, had a significantly lower survival. Conclusions: The frequency of TEL/AML1 and BCR/ABL fusion gene transcripts in these children with ALL is similar to that described by other authors.

Contenido de ADN y sobrevida en el carcinoma subseroso de la vesícula biliar / DNA content and survival in subserous gallbladder carcinoma

Background: The clinical and morphological characterization of the subserous gallbladder carcinomas is controversial. Aim: To study the prognostic importance of DNA content of subserous gallbladder carcinoma. Material and methods: We studied 104 females aged 60±12 years old and 16 men aged 70±13 years old. In all of them diagnosis was established after mapping of cholecystectomy sample and had a complete clinical follow up. DNA content was measured by flow cytometry. Results: All tumors were adenocarcinoma, and only 16 percent were well differentiated. Aneuploidy was observed in 29 cases (26 perceeeent) with DNA index fluctuating between 1.1 and 1.8. Lymphatic vessel tumor involvement was present in 16 of 22 cases with aneuploidy and in 22 of 46 diploid tumors (p= 0.05). Eighty nine percent of aneuploid tumors were detected macroscopically and 11 percent were unapparent. Five years survival was non significantly better among patients with diploid tumors than in patients with aneuploid tumors (45 and 28 percent, respectively, p= 0.2). The histological differentiation was the only variable significantly associated with survival. Conclusions: Aneuploidy is present in 26 percent of subserous gallbladder carcinoma. It is not related with any of the morphological or clinical variables studied in this series of patients.

Priapismo asociado a leucemia mieloide crónica: un caso clínico / Priapism in a patient with chronic myeloid leukemia: a clinical case

Priapism is a rare complication of hematological diseases. Among leukemia, it is most frequently seen in patients with chronic myeloid leukemia, due to the high leukocyte counts that these patients achieve. We report a 22 years old male who presented with a priapism lasting more than 24 hours. Thirty six hours after admission and subsequent to a leukopheresis, penile relaxation was obtained. Despite good hematological response to therapy, an extensive penile and uretral necrosis, associated to an Acinetobacter infection, ensued between the fourth and fifth day of admission, that required surgical treatment

Estudios citogenéticos en niños chilenos con leucemia linfoblástica aguda / Cytogenetic studies in chilean children with acute lymphoblastic leukemia

Acute lymphoblastic leukemia (ALL) is the most frequent childhood cancer. The leukemic cells of ALL patients show several well defined numeric and structural chromosomal abnormalities which are universally known for its prognostic implications. We studied a group of 44 children with ALL, to investigate the incidence of chromosome aberrations in ALL, its lymphocyte lineage and some clinical feature associations, ans the finding of non previously described aberrations. A high proportion of patients (79.5 per cent) showed chromosomal abnormalities. Most of them had a pseudodiploid karyotype (46 chromosomes), characterized mainly by a translocation. In relation to chromosome number, 27 percent of them were hyperdiploid with more than 50; 9 percent hyperdiploid between 47 - 50 and 7 percent hypodiploid (less than 46). Among structural aberrations found, were the following recurrent translocations: t(1;19), t(4;11), t(9;22) in 6.8 percent, 9.1 percent and 2.3 percent of cases respectively, all related to an early B immunophenotype. Other translocations found, compromised regions 7q22,9p21 -24. Two new translocations in ALL were found: 8(1;5)(q23;q33), apparently balanced and t(13;21)(q14;q22), unbalanced. Other recurrent structural changes found were: deletion (6q), (7q), (7q), (11q), (12q), inversion (3q), isochromosome (7q), maker chromosomes and double minutes. The distribution of chromosome abnormalities in this group of patients was in agreement with previous reports from other investigators

Linfoma primario cerebral post trasplante renal: comunicación de un caso y revisión de la literatura / Primary brain lymphoma post renal transplantation: report of a case and literature review

We report a 30 years old male, presenting eight years after a kidney transplant with intracraneal hypertension and two hyperdense masses detected in a brain CAT scan, whose histopathological study revealed a giant cell immnunoblastic lymphoma. The patient was successfully treated with chemo and radiotherapy and after 18 months of follow up there is no evidence of tumoral relapse. Immunocompromised patients specially transplant recipients, had a several fold higher incidence of malignant tumors, specially primary lymphomas of the central nervous system. These are generally of B type, are associated to Epstein Barr virus and have a high mortality. Cancer must be considered in the differential diagnosis of masses of uncertain origin in transplant recipients

Leucemia prolinfocítica, descripción de dos casos / Prolymphocytic leukemia, description of 2 cases

We present the clinical and laboratory features of 2 patients with B prolymphocitic leukemia. Both are females of the fith and seventh decade of life. One had the classical clinical picture of massive splenomegaly and a high white cell count, with characteristic prolymphocytes and the other was asymptomatic, with a low white cell count. The cells were positive to B cell lineage reagents with strong surface immunoglobuline (Ig) and unreactive to T cell antibodies. Analysis of Ig genes at the DNA level demonstrated that both cases had heavy-chain gene rearrangements, confirming the B-cell origin. These are the first patients of prolymphocytic leukemia described in Chile

Anticuerpos plaquetarios en púrpura trombocitopénico idiopático del niño / Platelet antibodies in idiopathic thrombocytopenic purpura of children

Se determinó la presencia de anticuerpos plaquetarios en el suero de 36 niños con Púrpura Trombocitopénico Idiopático (PTI), 20 agudos y 16 crónicos, mediante la prueba indirecta de inmunofluorescencia de adhesión plaquetaria (PIIFAP). Se observaron anticuerpos plaquetarios en 14/20 de los PTI Agudos (70%) y en 10/16 de los PTI Crónicos (62,5%). Los resultados son similares a los descritos por otros autores con esta técnica e independientes del recuento plaquetario al momento de obtención de la muestra de suero y del antecedente de transfusión con productos sanguíneos en los seis meses previos. El empleo de microplacas Hamax, aprovechando la capacidad de las plaquetas para adehrirse a superficies de vidrio, parece aumentar la sensibilidad del test simplificando su realización y aumentando su eficiencia