Type of tumour, gender and time since diagnosis affect differently health-related quality of life in adolescent survivors.

Research findings about health-related quality of life (HRQoL) of childhood cancer survivors are mixed and the features which could modulate these results have not been investigated rigorously. This research aims to improve the knowledge on these topics. Thus, HRQoL between central nervous system (CNST) and non-central nervous system (non-CNST) adolescent cancer survivors was compared. The influence of selected factors (gender and years since diagnosis) on HRQoL was also analysed. In a cross-sectional design, 78 survivors (12-20 years) who were ≥ 1 year free of oncological treatment answered the self-reported version of the KIDSCREEN-52. HRQoL mean scores of CNST survivors were lower in comparison with non-CNST in physical well-being and social support and peers dimensions. Furthermore, female gender was also related to lower HRQoL scores for both types of tumours in physical well-being and autonomy dimensions. Additionally, scores on psychological well-being, social support and peers, parent relations and home life and school environment dimensions decrease with length of time from diagnosis. Therefore, diagnosis of CNST and gender were related to lower HRQoL among survivors in some dimensions, whereas time from diagnosis was related to impaired HRQoL in other features. These results can help to design tailored interventions and psychosocial guidelines to follow-up survivors.

Molecular biology of retinoblastoma.

Retinoblastoma (Rb), the most common intraocular tumor in childhood, is caused by the loss of function of both retinoblastoma susceptibility gene (RB1 or Rb1) alleles. In 1971, Alfred Knudson proposed his "two-hit" theory based upon empiric observations of the clinical genetics of Rb, revealing the role of tumor-suppressor genes in human cancer. Knudson proposed that: "In the dominant inherited form of Rb, one mutation is inherited via germ line and the second occurs in somatic cells. In the nonhereditary form, both mutations occur in somatic cells." The Knudson hypothesis was validated later with the cloning of RB1, the first tumor-suppressor gene to be identified. A few years later, Harbour extended these findings to small-cell lung cancer, showing that the RB1 locus was disrupted in tumors other than Rb and osteosarcoma. Since then, it has been found that most, if not all, tumors have defects in their RB1 pathway through genetic lesions in the RB1 gene itself or other genes in the pathway. The history of Rb research highlights how basic research on a rare childhood cancer can have a much broader effect on a disease that affects millions of people each year worldwide.

Molecular biology of retinoblastoma

Retinoblastoma (Rb), the most common intraocular tumor in childhood, is caused by the loss of function of both retinoblastoma susceptibility gene (RB1 or Rb1) alleles. In 1971, Alfred Knudson proposed his "two-hit" theory based upon empiric observations of the clinical genetics of Rb, revealing the role of tumor-suppressor genes in human cancer. Knudson proposed that: "In the dominant inherited form of Rb, one mutation is inherited via germ line and the second occurs in somatic cells. In the nonhereditary form, both mutations occur in somatic cells." The Knudson hypothesis was validated later with the cloning of RB1, the first tumor-suppressor gene to be identified. A few years later, Harbour extended these findings to small-cell lung cancer, showing that the RB1 locus was disrupted in tumors other than Rb and osteosarcoma. Since then, it has been found that most, if not all, tumors have defects in their RB1 pathway through genetic lesions in the RB1 gene itself or other genes in the pathway. The history of Rb research highlights how basic research on a rare childhood cancer can have a much broader effect on a disease that affects millions of people each year worldwide (AU)

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Lactante de 9 meses con aumento unilateral del tamaño testicular / Nine-month-old infant with unilateral increase in testicular size

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[Castleman disease]. / Enfermedad de Castleman.

Castleman disease or angiofollicular hyperplasia is a rare disorder included in the group of lymphoproliferative disorders. This entity was originally described by Castleman in 1956. The etiology remains unknown but it is postulated to be a reactive lymphoid hyperplasia due to chronic antigenic stimulation caused by a viral infection. The disease presents in young adults and is more frequent in women; it is exceptionally rare in the pediatric age group. It is classified into two clinical groups (localized disease and disseminated disease) and there are two histologic variants (hyaline-vascular and plasma cell Castleman disease). Localized disease is usually asymptomatic, has a good prognosis, and is the most common presentation in pediatric patients, usually corresponding to highly vascularized mediastinal masses. Resection of the mass, which is curative, is associated with a high risk of blood loss. Recently, preoperative arteriography with embolization has been used satisfactorily in the preoperative management of these tumors. We present a case of localized Castleman disease in a 12-year-old girl satisfactorily treated with embolization before curative resection.

Enfermedad de Castleman / Castleman disease

La enfermedad de Castleman o hiperplasia angiofolicular es una entidad poco frecuente enmarcada dentro de los trastornos linfoproliferativos. Esta enfermedad fue descrita inicialmente por Castleman en 1956. Su etiología es desconocida, pero se cree que responde a una estimulación antigénica crónica de probable etiología viral. Se presenta en adultos jóvenes, más frecuente en mujeres, y es excepcional en la edad pediátrica. Clínicamente se distinguen dos formas de enfermedad: una localizada y otra multicéntrica. La forma localizada, de buen pronóstico, asintomática al diagnóstico, es la forma de presentación más frecuente en la edad pediátrica y por lo general corresponde a masas mediastínicas muy vascularizadas. La resección de la lesión, que es curativa, se asocia a un alto riesgo de sangrado. Recientemente se ha introducido la arteriografía con embolización prequirúrgica para minimizar el riesgo de sangrado en el acto quirúrgico. Se presenta un caso de enfermedad de Castleman localizada en una paciente de 12 años en la que se utilizó con éxito la angioembolización prequirúrgica

Castleman disease or angiofollicular hyperplasia is a rare disorder included in the group of lymphoproliferative disorders. This entity was originally described by Castleman in 1956. The etiology remains unknown but it is postulated to be a reactive lymphoid hyperplasia due to chronic antigenic stimulation caused by a viral infection. The disease presents in young adults and is more frequent in women; it is exceptionally rare in the pediatric age group. It is classified into two clinical groups (localized disease and disseminated disease) and there are two histologic variants (hyaline-vascular and plasma cell Castleman disease). Localized disease is usually asymptomatic, has a good prognosis, and is the most common presentation in pediatric patients, usually corresponding to highly vascularized mediastinal masses. Resection of the mass, which is curative, is associated with a high risk of blood loss. Recently, preoperative arteriography with embolization has been used satisfactorily in the preoperative management of these tumors. We present a case of localized Castleman disease in a 12-year-old girl satisfactorily treated with embolization before curative resection

[Acute liver failure due to T cell lymphoma without hepatic infiltration]. / Insuficiencia hepática aguda por linfoma de células T sin infiltración hepática.

Hepatomegaly and alterations in hepatic function are common to all patients with sickle-cell disease. In these patients, hepatic sickling is a manifestation of severe intrahepatic vaso-oclusive crises, even at levels of 25 % HbS and hematocrits of more than 45-50 %, which in 10 % of cases can lead to acute hepatic failure (AHF). AHF can be due to a variety of causes, including hematologic malignancies, but T cell lymphoma, which is usually secondary to diffuse hepatic infiltration and ischemia, is an exceptional cause, although other mechanisms can be involved. Cytokines released by lymphomas have recently been implicated as a cause of AHF.We describe a black girl with sickle cell disease, who developed AHF due to T cell lymphoma without lymphomatous infiltration of the liver. The only mechanism found to explain the clinical findings was release of cytokines by lymphoma. In patients with AHF of unknown etiology we propose early liver biopsy, because prognosis depends on the presence or absence of hepatic tumour infiltration. If AHF develops in a patient with diagnosed malignant disease, cytokine release may be the cause of AHF. Consequently, early diagnosis of the underlying disease and provision of liver support, as well as direct removal of inflammatory mediators from the circulation by exchange transfusion or other methods, should be the main priorities.

Insuficiencia hepática aguda por linfoma de células T sin infiltración hepática / Acute liver failure due to T cell lymphoma without hepatic infiltration

En pacientes con anemia de células falciformes, la hepatomegalia y alteración de la función hepática son comunes. En ellos, las crisis vasooclusivas intrahepáticas graves, pueden ocurrir con niveles de hemoglobina del 25 per cent y hematocrito superior a 45-50 per cent. Un 10 per cent pueden llegar a fallo hepático agudo (FHA). El FHA tiene diversas causas, entre ellas los procesos hematológicos malignos, excepcionalmente el linfoma de células T, que por lo general produce infiltración hepática e isquemia, aunque éste no es el único mecanismo lesional. Recientemente se ha considerado a las citocinas liberadas por linfomas como causa de FHA. Se presenta el caso de una niña de raza negra, con enfermedad de células falciformes, que presentó FHA secundario a un linfoma de células T que no infiltró al hígado, y donde el único mecanismo que se encontró para explicar el cuadro clínico fue el mediado por las citocinas. Cuando los estudios de imagen no confirman la infiltración hepática por células malignas, debe valorarse realizar una biopsia hepática, pues el pronóstico del FHA variará en función de si hay o no infiltración tumoral. Si la causa del FHA es compatible con una enfermedad neoplásica, las citocinas pueden ser las responsables del FHA. Por ello, establecer medidas de soporte de la función hepática e iniciar tratamiento precoz de la enfermedad de base, además de remover directamente estos mediadores inflamatorios de la circulación mediante exanguinotransfusión u otro procedimiento debe constituir la principal preocupación (AU)

[Randomized multi-center trial of the administration of erythropoietin in anemia of prematurity]. / Estudio multicéntrico aleatorizado de administración de eritropoyetina en la anemia de la prematuridad.

OBJECTIVES: The purpose of this study was to test the therapeutic effect of human recombinant erythropoietin (rH-EPO) on anemia of prematurity. MATERIAL AND METHODS: Fifty-eight preterm infants less than 34 weeks of gestational age from three different hospitals were studied. Transfusional policies were similar in all three centers. Infants with ABO or Rh incompatibility were excluded. At 28 days after birth, 28 infants (48.3%) had hemoglobin levels under 10.5 g/dL and were randomized to receive rH-EPO or standard care. Those infants ascribed to the treatment group received 200 U/kg of body weight of rH-EPO subcutaneously once a day, three days a week for 4 weeks together with oral supplements of ferrous sulfate at a dosage of 4 mg/kg/day. Both groups received daily doses of 50 micrograms of folic acid and 5U of vitamin E per os. Erythropoietin and ferritin were determined at randomization and at 60 days of age. Hemoglobin, reticulocytes, leucocytes, granulocytes and platelets were measured once a week, from the beginning of the treatment until 60 days of age. RESULTS: At randomization into treatments, there were no significant differences between the groups with respect to weight, gestational age, hemoglobin (9.42 +/- 0.73 vs 9.26 +/- 0.68 g/dL), reticulocytes (61.7 +/- 32.2 vs 68.0 +/- 61.0 x 10(9)/L), ferritin, EPO1 leucocytes or platelets. At 60 days of age, the treatment group showed higher hemoglobin values (10.5 +/- 1.73 vs 9.1 +/- 1.0 g/dL, p < 0.05). There were no significant differences between reticulocyte counts (176.4 +/- 91.1 vs 112.6 +/- 85.0 x 10(9)/L), granulocytes (2,351 +/- 868 vs 2,075 +/- 856 x 10(9)/L), platelets (400 +/- 138 vs 316 +/- 164 x 10(9)/L) or ferritin (209 +/- 177 vs 393 +/- 328 micrograms/mL). Of the infants in the nontreated group, 13.3% received blood transfusions between 30 and 60 days of age, while only 6.7% of the treatment group did (p = 0.31). DISCUSSION: We have been able to find 11 controlled studies in the medical literature which deal with the clinical usage of rH-EPO in newborns. Six use the hormone in an early phase and 5 in a posterior one. Our study should be included in the later and, as happens in most of them, demonstrates the efficacy of rH-EPO in the treatment of late anemia of the preterm newborn as shown by an increment in the hemoglobin levels and a trend towards the diminution in the use of blood transfusions. We have not observed substantial adverse effects.