Comprehensive clinical, molecular and histopathological analysis of bone marrow in chronic myeloproliferative neoplasia. / Análisis integrado clínico, molecular e histopatológico de la médula ósea en las neoplasias mieloproliferativas crónicas.

OBJECTIVES: To analyse the possible correlation between molecular changes in the JAK2, MPL and CALR genes, the morphological pattern of bone marrow and the clinical-haematologic profile of patients. PATIENTS AND METHODS: We conducted a retrospective study that included 140 patients diagnosed with Philadelphia-negative myeloproliferative neoplasia (Ph-MPN) in a single centre. RESULTS: In essential thrombocythaemia (ET), the patients with the JAK2 V617F mutation presented more leucocytes and neutrophils than patients who presented the CALR mutation, who had more platelets and a greater need for cytoreductive therapy. These findings support the fact that the mutational state in ET appears to define subtypes of patients with substantially different clinical courses and prognoses. In myelofibrosis, the mutational state appears to influence the histopathological changes found in the bone marrow biopsy, which did not occur in polycythaemia vera or ET.

[Peritoneal tuberculosis as a complication in a case of unclassifiable myelodysplastic/myeloproliferative disease]. / Tuberculosis peritoneal como complicación en un caso de síndrome mielodisplásico/mieloproliferativo inclasificable.

We report the case of a 68-year-old male with a diagnosis of unclassifiable myelodysplatic/myeloproliferative disease (WHO classification), under prolonged steroid treatment and unsuccesful chemotherapy response, who developed progressive asthenia, thoracic pain, minimal efforts dyspnea, and abdominal distension, that initially was suspicious of splenic rupture. Exploratory laparotomy showed multiple peritoneal implants, and a diagnosis of peritoneal tuberculosis was obtained from local biopsy. Definitive diagnosis included a positive result to culture and PCR urine test, together with a possible pleural and splenic tuberculous affectation. Response to tuberculostatic treatment was successful. To the best of our knowledge, this is the first reported case with such characteristics.

Estudio de la enfermedad mínima residual en el cáncer infantil / Study of minimal residual disease of childhood cancer

El estudio de la enfermedad mínima residual (EMR), en distintas neoplasias infantiles, ha ido adquiriendo en los últimos años una importancia trascendental en la detección y seguimiento de pacientes con mayor probabilidad de recaída y como consecuencia, un mal pronóstico a largo plazo. Existen diferentes técnicas de estudio para determinar y cuantificar la EMR, según el tipo de neoplasia: la citometría de flujo, la inmunocitología y técnicas moleculares como la hibridación in situ con fluorescencia (FISH) y la transcripción inversa acoplada a la reacción en cadena de la polimerasa (RTPCR). En este artículo se repasan las diferentes técnicas utilzadas en busca de EMR durante y/o tras finalizar el tratamiento en leucemias agudas infantiles, neuroblastomas, rabdomiosarcomas y tumores de la familia del sarcoma de Ewing, así como su utilidad como factor pronóstico (AU)

[Indurated erythema as the presenting form of a case of chronic myelomonocytic leukemia]. / Eritema indurado como forma de presentación de un caso de leucemia mielomonocítica crónica.

Chronic myelomonocytic leukemia (CMML) is an oncohematologic disease with a mixed nature, myeloproliferative and myelodysplastic, and presenting features are usually the consequence of peripheral blood cytopenias (anemic syndrome, infections or bleeding). Specific or non-specific cutaneous involvement in patients with myelodysplastic syndromes or chronic leukemias is exceptional, and it takes place often in advanced stages of the disease, as a preample of a transformation from chronic illness to acute leukemia. Recognition and early diagnosis of the skin lesion by cutaneous biopsy, in every patient with myelodysplastic or myeloproliferative disease, have therapeutic and prognostic significance. We describe a patient who presented with a non-especific cutaneous lesion, Bazin's erhythema induratum, as initial manifestation of chronic myelomonocytic leukemia; we also comment diagnostic, therapeutic and clinical evolution aspects.

HIV-associated primary body-cavity-based lymphoma: clinico-biologic features in three patients diagnosed at the same institution.

Primary effusion lymphoma (PEL) is a recently individualized form of non-Hodgkin lymphoma (WHO classification) that mainly develops in HIV infected males, more frequently in homosexuals and advanced stages of the disease (total CD4+ lymphocyte count below 100-200/mL). Occasionally, it appears in others immunodepressive states (such as solid organs postransplant period) and even, although very rarelly, in immunocompetents patients. From a pathogenetic point of view, PEL has been related to Kaposi's sarcoma-associated herpes virus (also named human herpesvirus 8) and to the clinical antecedent of Kaposís sarcoma. Relative unfrequency of this disease, the absence of wide casuistics allowing a better characterization, and its unfavorable outcome, support the need of a deeper knowledge. We present here the clinical-biological findings of three patients that were diagnosed of pleural PEL in our institution in the last two years.

Linfoma primario de cavidades asociado a infección por VIH: características clínico-biológicas en tres pacientes diagnosticados en un mismo centro / Hiv-associated primary body-cavity-based lymphoma: clinico-biologic features in three patients diagnosed at the same institution

El linfoma primario de cavidades (LPC) constituye un variedad de linfoma no Hodgkin individualizada por la clasificación OMS, que se desarrolla principalmente en pacientes varones con infección por HIV, más frecuentemente homosexuales y en estadios avanzados de la enfermedad (recuento total de linfocitos CD4+ inferior a 100-200/µL), aunque en ocasiones pueden aparecer en otras circunstancias asociadas a estados de inmunodepresión (como puede ser en el postrasplante de órganos sólidos) e incluso, de forma muy ocasional, en pacientes inmunocompetentes. Desde un punto de vista patogenético se ha relacionado con el virus herpes asociado a sarcoma de Kaposi (también denominado virus herpes tipo 8) y al propio antecedente clínico de sarcoma de Kaposi. La relativa rareza de esta enfermedad, la falta de casuísticas amplias que logren caracterizarla mejor y su pronóstico tan desfavorable, obligan a profundizar en un mejor conocimiento de la misma. Presentamos los hallazgos clínico-biológicos de tres pacientes diagnosticados de LPC pleural en nuestro centro en los últimos dos años (AU)

Eritema indurado como forma de presentación de un caso de leucemia mielomonocítica crónica / Erythema induratum as presenting form in a case of chronic myelomonocytic leukemia

La leucemia mielomonocítica crónica (LMMC) constituye un proceso oncohematológico de naturaleza mixta, mieloproliferativa y mielodisplásica, siendo su forma habitual de presentación consecuencia, generalmente, de las citopenias en sangre periférica (síndrome anémico, infecciones o diátesis hemorrágica). La afectación cutánea en pacientes con síndromes mielodisplásicos o leucemias crónicas, ya bien sea específica o inespecífica, es una circunstancia excepcional, teniendo lugar más frecuentemente en estadios avanzados de la enfermedad como preámbulo a una transformación del proceso crónico en leucemia aguda. El reconocimiento y el diagnóstico precoces del tipo de afectación cutánea en cualquier paciente con síndrome mielodisplásico o mieloproliferativo crónico, obtenido dicho diagnóstico mediante biopsia de la lesión, resulta de gran importancia, pues conlleva un claro significado pronóstico y terapéutico. Describimos a continuación el caso de un paciente que presentó una lesión cutánea inespecífica, un eritema indurado de Bazin, como manifestación inicial de una LMMC; se comentan aspectos diagnósticos, terapéuticos y evolutivos del mismo (AU)

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Déficit de hierro sin pérdidas hemorrágicas evidentes: ¿un "reto" para la práctica clínica? / Iron deficiency without evident haemorrhagic losses: a challenge for the clinical practice?

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[Cutaneous involvement as the form of presentation in B-cell lymphoblastic leukemia/lymphoma]. / Nódulo cutáneo como forma de presentación de una leucemia/linfoma linfoblástico de estirpe B.

Primary cutaneous involvement in B-cell lymphoblastic leukemia/lymphoma is rare in childhood. We present the case of an eleven and a half year old girl who, five months prior to being referred to our center, had undergone surgery to remove a small gluteal tumor diagnosed histopathologically as lymphoid proliferation suggestive of large cell lymphoma. On examination the presence of small nodes close to the scar where the tumor had previously been removed was observed. Hemogram revealed 2.7 x 9/l white blood cells with 0.5 x 9/l neutrophils; the remaining series and complementary investigations were normal. Bone marrow aspiration revealed 52 % blastic cells with immunophenotype and morphological characteristics of common (B-cell) acute lymphoblastic leukemia with L2 subtype in the French-American-British (FAB) classification. Ten months after finishing polychemotherapy, the patient is now in complete remission. We would like to highlight that a small slow-growing cutaneous node could be the presenting form of lymphoblastic lymphoma or acute lymphoblastic leukemia.

Diagnóstico simultáneo de leucemia linfocítica crónica y policitemia vera en un paciente / Simultaneous diagnosis of chronic lymphocytic leukemia and polycytyhemia vera in a patient

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A case of chronic lymphocytic leukemia overwhelmed by rapidly progressive idiopathic myelofibrosis.

Chronic lymphocytic leukemia (CLL) is sometimes associated with solid tumors but rarely coexists with other hematologic neoplasias in the same patient. There are isolated case reports in the literature of an association between CLL and idiopathic myelofibrosis, a representative disease of the group of the myeloproliferative syndromes. We describe the case of a 70-years old female diagnosed as having CLL and idiopathic myelofibrosis in a prefibrotic phase with an indolent course, managed only with observation. Twenty-eight months after diagnosis, the patient developed hepato-splenomegaly and progressivly rising of serum lactic dehydrogenase (LDH) levels; immature granulocytic cells and tear drop red cells appeared in the blood. A bone marrow trephine biopsy (after a "dry tap" external aspiration) was consistent with the diagnosis of overt idiopathic myelofibrosis and only residual foci of CLL cells were present. Three months later, the blood diagnostic features of CLL remained but a progressive fall in the numbers of CD5+/CD19+ cells was noted. Other observations related to this association in several chronological sequences, their possible pathogenesis possibilities, and the diagnostic value of the rise in serum LDH levels, are discussed. The case reported here constitutes an extremely rare situation of CLL overwhelmed by rapidly progressing idiopathic myelofibrosis.

Lack of relationship between plasma thrombomodulin and portal hypertension in alcoholic liver disease.

The present study was performed to analyze the relationship between portal hypertension and alterations of the endothelium-derived proteins thrombomodulin, plasminogen activator (t-PA) and plasminogen activator inhibitor (PAI-1), which were determined in plasma samples of 28 alcoholic cirrhotic patients and 46 controls. Although cirrhotics showed lower levels of PAI-1, but higher thrombomodulin and t-PA levels than controls, no relationship was observed between thrombomodulin, t-PA or PAI-1 and portal pressure. Therefore, the hypothesis that splachnic endothelial damage secondary to portal hypertension leads to altered thrombomodulin, t-PA and PAI-1 levels in alcoholic cirrhosis is not supported by the results of this study.

[Neutrophil mobilization test with intravenous hydrocortisone in the study of chronic idiopathic neutropenias. Experience with 19 cases and usefulness of a new diagnostic index]. / Prueba de movilización de los neutrófilos con hidrocortisona intravenosa en el estudio de las neutropenias crónicas idiopáticas. Experiencia en 19 casos y utilidad de un nuevo índice diagnóstico.

BACKGROUND: Some patients with chronic benign neutropenia present granulocytes distribution disorders within their different physiologic pools, and this situation can be exposed by granulocyte mobilization tests. Stimulation with hydrocortisone is the best known test, but its performance and interpretation are not well standardized. Granulocyte mobilization test with hydrocortisone was performed in 19 patients with chronic peripheral idiopathic granulocytopenia, by applying homogeneous criteria. PATIENTS AND METHOD: The test included an injection of intravenous hydrocortisone 200 mg after a first basal blood neutrophil determination, and a second neutrophil count four hours after steroid administration. Following data were registered: basal blood neutrophil count (BNC), final blood neutrophil count (FNC), difference between both counts or increment (INCR), and the ratio = 60% of INCR/2.0 (109/1) BNC, which we name demargination index (DI). RESULTS: Three response patterns (three patient groups) were observed: pattern I, with FNC > 2.0 109/1 and DI >/= 1 (false neutropenia with hypermargination component); pattern II, with FNC > 2.0 (109/1) and DI < 1 (false neutropenia with pathogenic mechanisms others than hypermargination), and pattern III, with FNC < 2.0 (109/1) and DI < 1 (true neutropenia). There were no significant differences in BNC or INCR when groups I and II were compared, but we found differences in FNC (p = 0.026) and DI (p = 0.026). Comparison between groups I and III showed differences in all four parameters (BNC P = 0.07, FNC p < 0.001, INCR p = 0.02, and DI p < 0.001). No differences were found between groups II and III. CONCLUSIONS: Granulocyte mobilization test with intravenous hydrocortisone 200 mg and a four-hours interval between basal and final neutrophil counts, allows differentiation between false neutropenia with hypermargination component and true neutropenia.

Coagulation inhibitors in alcoholic liver cirrhosis.

In the present study we have analyzed the relationship between coagulation inhibitors (antithrombin III, protein C and S, thrombomodulin), liver function impairment, and plasma activity of the endothelium-derived proteins plasminogen activator (t-PA) and plasminogen activator inhibitor (PAI-1) in 27 alcoholic cirrhotic patients and 25 controls. Cirrhotics showed decreased values of all the mentioned parameters except for thrombomodulin, PAI-1, and t-PA. Thrombomodulin and t-PA levels were higher in cirrhotics. No relationship was observed between thrombomodulin and t-PA or PAI-1. Protein C and antithrombin III levels were significantly lower in Child's C patients, whereas no correlation was found between t-PA and thrombomodulin and hepatic function derangement. PAI-1 activity was normal in our patients.