Survival and toxicity outcomes of hematopoietic stem cell transplantation for pediatric patients with Fanconi anemia: a unified multicentric national study from the Spanish Working Group for Bone Marrow Transplantation in Children.

Hematopoietic stem cell transplantation (HSCT) is currently the only curative option for hematological manifestations in patients with Fanconi anemia (FA). We report the outcome of 34 patients with FA inside a collaborative multicenter national study based on recommendations of Spanish Working Group for Bone Marrow Transplantation in Children (GETMON) between 2009 and 2016. Fludarabine-based conditioning regimen was carried out in all patients, with low dose total body irradiation in unrelated transplants. Disease status before HSCT was bone marrow failure (BMF) in 30 patients and myelodysplastic syndrome (MDS) in four. Donors were matched siblings donors (MSD) in 18, matched unrelated donors (MUD) in 15, and one haploidentical donor. All except one patient engrafted. Cumulative incidence of grades II-IV acute graft-versus-host disease (GVHD) was 29% and 11% for chronic GVHD. Median follow-up after HSCT was 6.5 years. Seven patients (21%) died due to transplant-related causes, two (6%) because of MDS relapse, and one (3%) after a squamous cell carcinoma. Overall survival (OS) was 73% at 5 years post-transplant, with no differences between MSD and MUD transplants. OS for patients with BMF was 80% while for MDS was 25%. Our data suggest HSCT can cure hematologic manifestations of most FA patients with BMF.

Improving the quality of care in the molecular era for children and adolescents with medulloblastoma.

PURPOSE: Elevated mortality and morbidity rates persist in pediatric patients with medulloblastoma. We present a clinical audit of a real-world cohort of patients in search for pragmatic measures to improve their management and outcome. METHODS/PATIENTS: All pediatric patients with medulloblastoma treated between 2003 and 2016 at a Spanish reference center were reviewed. In the absence of internationally accepted quality indicators (QIs) for pediatric CNS tumors, diagnostic, therapeutic, survival, and time QIs were defined and assessed. RESULTS: Fifty-eight patients were included, 24% were younger children (< 3 years), 36% high risk (anaplastic, metastasis, or surgical residue > 1.5 cm2), and 40% standard risk. Five-year OS was 59.2% (95% CI 47-75); 5-year PFS 36.4% (95% CI 25-53). Five main areas of quality assurance were identified: diagnosis, global strategy, frontline treatment modalities, outcomes, and long-term and end-of-life care. A set of 34 QIs was developed and applied. Lack of central pathology review, delay in the incorporation of novel molecular markers, and absence of a neurocognitive and quality-of-life evaluation program were some of the audit findings. CONCLUSIONS: This real-world research study resulted in the development of a pragmatic set of QIs, aimed to improve clinical audits and quality of care given to children and adolescents with medulloblastoma. We hope that our findings will serve as a reference to further develop a quality assurance system with specific QIs for pediatric CNS tumors in the future and that this will ultimately improve the survival and quality of life of these patients.

Prognostic factors and outcomes for pediatric patients receiving an haploidentical relative allogeneic transplant using CD3/CD19-depleted grafts.

Haploidentical hematopoietic stem cell transplantation using T-cell-depleted grafts is a valid option for pediatric patients with hematological malignancies in need of an allogeneic transplantation and lacking an HLA-identical donor. Seventy-five transplantations were performed in 70 patients. Thirty-eight patients had ALL, 32 had AML, 3 had advanced myelodysplastic syndromes and 2 juvenile myelomonocytic leukemia; 19 were in first CR, 30 in second CR, 12 in greater than second CR and 14 were considered to be in refractory disease at time of transplantation. Four patients developed graft failure. Among engrafted patients, the median time to neutrophil and platelet recovery was 13 (range 8-20) and 10 days (range 8-70), respectively. In 64 (85%) cases, ⩾1 infections were diagnosed after transplant. The probability of nonrelapse mortality by day +100 after transplantation was 10±4%. With a median follow-up of 22 months, the probability of relapse was 32±6% and disease-free survival was 52±6%. Haploidentical transplantation using CD3/CD19 depletion is associated with encouraging results especially in patients in early phase of disease. Killer-cell Ig-like receptor B haplotype donors confer a rapid natural killer cells expansion early after transplantation, resulting in lower probability of relapse and suggesting a GvL effect apart from graft-versus-host reactions. Donor infusion of high numbers of CD34+ cells is recommended in order to improve T-cell reconstitution.

Hiperfosforemia e hipolcacemia grave tras la administración de un enema de fosfatosódico / Severe hyperphosphoremia and hypocalcemia after the administration of a hypertonic sodium phosphate enema

No disponible

Exome sequencing reveals novel and recurrent mutations with clinical impact in blastic plasmacytoid dendritic cell neoplasm.

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a very rare disease that currently lacks genomic and genetic biomarkers to assist in its clinical management. We performed whole-exome sequencing (WES) of three BPDCN cases. Based on these data, we designed a resequencing approach to identify mutations in 38 selected genes in 25 BPDCN samples. WES revealed 37-99 deleterious gene mutations per exome with no common affected genes between patients, but with clear overlap in terms of molecular and disease pathways (hematological and dermatological disease). We identified for the first time deleterious mutations in IKZF3, HOXB9, UBE2G2 and ZEB2 in human leukemia. Target sequencing identified 29 recurring genes, ranging in prevalence from 36% for previously known genes, such as TET2, to 12-16% for newly identified genes, such as IKZF3 or ZEB2. Half of the tumors had mutations affecting either the DNA methylation or chromatin remodeling pathways. The clinical analysis revealed that patients with mutations in DNA methylation pathway had a significantly reduced overall survival (P=0.047). We provide the first mutational profiling of BPDCN. The data support the current WHO classification of the disease as a myeloid disorder and provide a biological rationale for the incorporation of epigenetic therapies for its treatment.

Rituximab en el tratamiento de citopenias autoinmunitarias refractarias a tratamientos convencionales / Role of rituximab in the management of refractory autoimmune cytopenia

Objetivo: Evaluar el papel del rituximab en el tratamiento de citopenias autoinmunitarias refractarias a tratamientos convencionales. Material y métodos: Estudio descriptivo longitudinal constituido por una serie de casos clínicos (n = 7) durante el período comprendido entre 2003 y 2010. Resultados: Se recogen 7 pacientes: 4, trombocitopenia inmune primaria; 2, anemia hemolítica autoinmunitaria, y 1, neutropenia autoinmunitaria. Un paciente había recibido trasplante de progenitores hematopoyéticos. La dosis fue de 375mg/m2/semana. Cuatro pacientes recibieron 4 dosis y 3 pacientes recibieron 2, 6 y 8 dosis cada uno. Cinco de los pacientes (71%) cumplieron criterios de respuesta global (completa en 4 pacientes y parcial en 1). A las 8,5 semanas, respondieron la mitad de los pacientes (rango: 3,5-19,5). La mediana de la duración de la respuesta fue de 35,5 semanas (rango: 12,5-53,5). El 100% de los respondedores pudo disminuir su tratamiento previo. Se registraron 2 recaídas. No se registran efectos adversos graves. Conclusiones: El 71% de los pacientes de esta serie responden al tratamiento, disminuyendo el 100% de los respondedores su tratamiento previo. Rituximab es un tratamiento bien tolerado, sin efectos secundarios graves en el período de seguimiento estudiado (AU)

Objectives: This study examined the efficacy of rituximab in children with refractory autoimmune cytopenia. Material and methods: Longitudinal descriptive study comprising a series of clinical cases (n=7) during the period 2003 to 2010. Results: A series 7 patients were included (4 had primary immune thrombocytopenia, 2 autoimmune hemolytic anemia, and 1 autoimmune neutropenia). One patient had received stem cell transplantation. Rituximab was administered intravenously to all patients at a dose of 375mg/mg2 weekly. Four patients received 4 doses. Three patients received 2, 6, and 8 doses, respectively. Overall, 5 patients responded (4 complete responses plus 1 partial response). The median time to achieve complete response was 8.5 weeks (range: 3.5-19.5 weeks). Two patients achieved complete response in the first 3.5 weeks, and the remaining 3 patients between 8.5 and 19.5 weeks. The median time of response was 35.5 weeks (range: 12.5-53.5 weeks). Two patients relapsed. No serious adverse events were recorded. Conclusions: Overall, seventy one percent of patients in this study respond to treatment, 100% of responders decrease their previous treatment. Rituximab was a well tolerated and no related serious side effects were recorded during the study period (AU)

[Role of rituximab in the management of refractory autoimmune cytopenia]. / Rituximab en el tratamiento de citopenias autoinmunitarias refractarias a tratamientos convencionales.

OBJECTIVES: This study examined the efficacy of rituximab in children with refractory autoimmune cytopenia. MATERIAL AND METHODS: Longitudinal descriptive study comprising a series of clinical cases (n=7) during the period 2003 to 2010. RESULTS: A series 7 patients were included (4 had primary immune thrombocytopenia, 2 autoimmune hemolytic anemia, and 1 autoimmune neutropenia). One patient had received stem cell transplantation. Rituximab was administered intravenously to all patients at a dose of 375 mg/mg(2) weekly. Four patients received 4 doses. Three patients received 2, 6, and 8 doses, respectively. Overall, 5 patients responded (4 complete responses plus 1 partial response). The median time to achieve complete response was 8.5 weeks (range: 3.5-19.5 weeks). Two patients achieved complete response in the first 3.5 weeks, and the remaining 3 patients between 8.5 and 19.5 weeks. The median time of response was 35.5 weeks (range: 12.5-53.5 weeks). Two patients relapsed. No serious adverse events were recorded. CONCLUSIONS: Overall, seventy one percent of patients in this study respond to treatment, 100% of responders decrease their previous treatment. Rituximab was a well tolerated and no related serious side effects were recorded during the study period.

Varicella zoster central nervous system vasculitis after allogeneic hematopoietic stem cell transplant successfully treated with cyclophosphamide.

We report the first case of varicella zoster central nervous system vasculitis, to our knowledge, which responded to intravenous pulses of cyclophosphamide in an immunocompromised child with severe and progressive disease, without sequelae.

Early evaluation of immune reconstitution following allogeneic CD3/CD19-depleted grafts from alternative donors in childhood acute leukemia.

Graft engineering procedures for hematopoietic SCT (HSCT) may improve the chance of success in matched unrelated donor (MUD) and haploidentical donor transplantations. Successful donor immune reconstitution is important to mediate GVL effects in reduced-intensity conditioning (RIC) HSCT. We prospectively investigated early immune reconstitution and clinical outcome in 30 CD3/CD19-depleted MUD (n=15) or HP (n=15) HSCTs for high-risk childhood leukemia using a fludarabine-based RIC without serotherapy. The graft consisted of a mean of 10.5 × 10(6)/kg CD34+, 77 × 10(3)/kg CD3+ and 39 × 10(6)/kg CD56+ cells. After transplantation, 86% of the patients engrafted. In all, 13% of patients had >grade 3 acute GVHD. Natural killer (NK) cell, DC and T-cell recovery achieved normal values within the first 60 days after transplantation. DC recovery was dominated by the DC2(-) subset. NK-cell phenotype was altered and cytotoxicity was lower compared with their donors. EFS was 50±9% (73±11% for those in CR1 and 26±11% for those with advanced disease). Faster DC2(-) recovery was associated with better outcome, especially in the MUD setting. In summary, CD3/CD19-depleted HSCT with fludarabine-based RIC without serotherapy resulted in favorable patient survival, and rapid NK, DC and T-cell recovery.

Candidiasis hepatoesplénica en pacientes hemato-oncológicos pediátricos / Hepatosplenic candidiasis in paediatric haematology-oncology patients

Introducción: En las últimas décadas, la supervivencia en las enfermedades hemato-oncológicas infantiles ha aumentado gracias a la mejora de los tratamientos, con regímenes quimioterápicos más agresivos. Esto ha conducido a un aumento en la incidencia de infecciones graves, con la consecuente morbimortalidad. La candidiasis hepatoesplénica es una infección diseminada por Candida que suele afectar más frecuentemente al hígado y bazo, aunque pueden verse involucrados otros órganos. Pacientes y métodos: Se ha realizado un estudio retrospectivo de 13 pacientes pediátricos diagnosticados de candidiasis hepatoesplénica desde enero de 2002 a febrero de 2010 en el Servicio de Hemato-Oncología pediátrica del Hospital Niño Jesús de Madrid siguiendo los criterios propuestos por la EORTC/MSG (European Organization for Research and Treatment of Cancer and Mycoses Study Group) revisados en el 2008. Se analizaron las características clínicas, los métodos diagnósticos, el tratamiento realizado y la evolución posterior. Resultados: El síntoma más frecuente de presentación de la candidiasis hepatoesplénica en nuestra serie fue la fiebre persistente, hasta en un 84,6% de los casos, en casi todos, asociada a algún otro síntoma. Los factores de riesgo para desarrollarla son bastante inespecíficos y estaban presentes hasta en un 92,3% de nuestros pacientes. El diagnóstico de infección probada, que se realiza mediante histología o cultivos, normalmente es difícil de obtener y sólo se logró obtener en nuestro caso en un 23,1%. La mayoría de las veces, como en nuestra serie, sólo se llega a un diagnóstico de sospecha. Las pruebas de laboratorio no tienen utilidad en la población pediátrica y tan sólo en un paciente se apreció aumento de la fosfatasa alcalina al diagnóstico. Este resultado difiere del comportamiento de este marcador biológico en los adultos. Aunque suelen ser necesarios tratamientos prolongados para la resolución de las lesiones, la supervivencia es muy alta, en nuestra serie un 100%, con un tratamiento adecuado. Conclusión: La mortalidad de la candidiasis hepatoesplénica es baja si se realiza un tratamiento precoz y adecuado (AU)

Introduction: In the last few decades, the survival of children with haematology-oncological malignancies has increased due to more aggressive chemotherapy regimens. This has led to an increase of fungal infections causing significant morbidity and mortality in these patients. Hepatosplenic candidiasis is a disseminated candida infection that affects most commonly the liver and spleen, although other organs may be involved. Patients and methods: We performed a retrospective study of 13 paediatric patients diagnosed with hepatosplenic candidiasis from January 2002 to February 2010 in our paediatric haematology-oncology department following the criteria proposed by the EORTC/MSG (European Organization for Research and Treatment of Cancer and Mycoses study group) updated in2008. We analysed the clinical characteristics, diagnostic methods, treatment and outcome. Results: The most common symptom of presentation of hepatosplenic candidiasis in our series was persistent fever, up 84.6% of cases, almost all associated with other symptoms. Risk factors for development are non-specific and were present in 92.3% of our patients. The diagnosis of proven infection, which is made by histology or culture, is usually difficult to obtain and in our series it was obtained only in 23.1% of cases. As in our series, diagnosis is often presumptive. Laboratory tests are not useful in the paediatric population and only in one patient we observed an increase in alkaline phosphatase at diagnosis. This result differs from the behaviour of this biological marker in adults. Although prolonged treatment is often necessary for the resolution of the lesions, survival is high with appropriate treatment, 100% in our series. Conclusions: The mortality of hepatosplenic candidiasis is low with early and adequate treatment (AU)

[Hepatosplenic candidiasis in paediatric haematology-oncology patients]. / Candidiasis hepatoesplénica en pacientes hemato-oncológicos pediátricos.

INTRODUCTION: In the last few decades, the survival of children with haematology-oncological malignancies has increased due to more aggressive chemotherapy regimens. This has led to an increase of fungal infections causing significant morbidity and mortality in these patients. Hepatosplenic candidiasis is a disseminated candida infection that affects most commonly the liver and spleen, although other organs may be involved. PATIENTS AND METHODS: We performed a retrospective study of 13 paediatric patients diagnosed with hepatosplenic candidiasis from January 2002 to February 2010 in our paediatric haematology-oncology department following the criteria proposed by the EORTC/MSG (European Organization for Research and Treatment of Cancer and Mycoses study group) updated in 2008. We analysed the clinical characteristics, diagnostic methods, treatment and outcome. RESULTS: The most common symptom of presentation of hepatosplenic candidiasis in our series was persistent fever, up 84.6% of cases, almost all associated with other symptoms. Risk factors for development are non-specific and were present in 92.3% of our patients. The diagnosis of proven infection, which is made by histology or culture, is usually difficult to obtain and in our series it was obtained only in 23.1% of cases. As in our series, diagnosis is often presumptive. Laboratory tests are not useful in the paediatric population and only in one patient we observed an increase in alkaline phosphatase at diagnosis. This result differs from the behaviour of this biological marker in adults. Although prolonged treatment is often necessary for the resolution of the lesions, survival is high with appropriate treatment, 100% in our series. CONCLUSIONS: The mortality of hepatosplenic candidiasis is low with early and adequate treatment.

Alteraciones de la función pulmonar tras el trasplante de progenitores hematopoyéticos / Lung function changes after haematopoietic stem cell transplantation

Objetivo: Determinar las alteraciones de la función pulmonar en niños tras un trasplante de progenitores hematopoyéticos. Comparar dichas alteraciones tras realizar un trasplante autólogo y un trasplante alogénico. Pacientes y métodos: Estudio observacional, prospectivo, desde 1996 hasta 2005. Se realizó un test de función pulmonar a 93 niños sometidos a trasplante, 47 con trasplante autólogo y 46 con trasplante alogénico, antes del trasplante y a los 2, 6, 12 y 24 meses posteriores a éste. Se determinaron las alteraciones en el volumen espiratorio forzado en un segundo (FEV1), FEV1/capacidad vital forzada (FCV), capacidad pulmonar total (TLC) y capacidad de difusión (DLCO). Se realizó un análisis estadístico de los datos mediante comparación de medias de datos relacionados. Resultados: Antes de la realización del trasplante, el 6,8 % de los pacientes presentó FEV1 inferior al 80 %, el 1 % presentó FEV1/FVC inferior al 80 %, el 7,8 % tuvo TLC inferior al 80 % y el 13,5 % presentó una alteración aislada de la DLCO. Todos los parámetros empeoraron tras el trasplante, y dicho empeoramiento fue máximo a los 2 y a los 6 meses posteriores al trasplante. A los 6 meses, el 8 % de los niños presentó FEV1/FVC inferior al 80 %, un 25 % presentó TLC inferior al 80 % y otro 13 % DLCO inferior al 70 % con el resto de los parámetros normales. A partir de los 6 meses la función pulmonar mejoró, pero a los 2 años no había llegado al punto inicial. Fueron estadísticamente significativos el descenso de FEV1/FVC a los 2 meses (p=0,05), de TLC a los 2 meses (p=0,011) y DLCO a los 2 meses (p < 0,001). No se encontraron diferencias significativas entre trasplantes autólogos y alogénicos salvo por FEV1/FVC, más alterado en el grupo de pacientes sometidos a trasplantes alogénicos a los 6 meses (p=0,02). Conclusiones: Tras el trasplante de progenitores se producen importantes alteraciones de la función pulmonar, sobre todo en los primeros 2 meses posteriores al trasplante, con una mejoría posterior a partir de los 6 meses, que no alcanza los valores previos (AU)

Objective: To evaluate lung function abnormalities in children who underwent haematopoietic stem cell transplantation (HSCT) and to compare these abnormalities between autologous and allogenic transplantation. Patients and methods: Prospective observational study from 1996 to 2005. Ninety-three children receiving HSCT, 47 autologous and 46 allogenic, were included. Lung function tests were performed before transplantation and at 2, 6, 12 and 24 months afterwards. The following indices were determined: forced expiratory volume in 1 s (FEV1), FEV1/ forced vital capacity (FVC), total lung capacity (TLC), and carbon monoxide diffusing capacity (DLCO). Paired Student's t-test was used for statistical analysis of data. Results: Before HSCT, 6,8 % of the children had FEV1 < 80 %, 1 % FEV1/FVC < 80 %, 7,8 % TLC < 80 % and 13.5 % DLCO < 70 %. At 2 months, FEV1/FVC, TLC and DLCO were significantly reduced, when compared to pre-transplantation values (p=0.05, 0.011 and p < 0.001, respectively). Lung function gradually improved from 6 months post-transplantation, but did not reach pre-transplantation values at 24 months. No significant differences were found when comparing allogenic and autologous transplantation, apart from a lower FEV1/ FVC value at 6 months (p=0.02) in the first group. Conclusions: An important proportion of children who undergo HSCT have early pulmonary abnormalities (at 2 and 6 months after transplantation) with partial recovery at 24 months (AU)

Unrelated cord blood transplantation for severe combined immunodeficiency and other primary immunodeficiencies.

HCT is currently the treatment of choice for children with severe primary immunodeficiencies (PIDs). Frequently, these patients lack an HLA-identical sibling donor, and umbilical cord blood (UCB) transplantation may be an option; however, experience in this field remains scant. Fifteen children with PID (SCID 11, X-linked lymphoproliferative syndrome 2, Omenn's syndrome 1, Wiskott-Aldrich syndrome 1) received a UCB transplant. The donor was unrelated in 14 cases and related in 1. Median age at transplant was 11.6 months (range, 2.9-68.0) and median weight 7 kg (range, 4-21). Thirteen patients were conditioned with busulphan and cyclophosphamide and 2 with fludarabine and melphalan. Nine patients received antithymocyte globulin. Median NC x 10(7)/kg infused was 7.9 (range, 2.9-25.0) and median CD34 x 10(5)/kg 2.9 (range, 1.0-7.9). All patients engrafted. Median days to >0.5 x 10(9)/l neutrophils was 31. Eight patients developed acute graft-versus-host disease (GvHD) grades II-IV and one chronic GvHD. Viral and fungal infections were frequent. Four patients died: three from GvHD grade IV complicated by infection and one from progressive interstitial lung disease. Five-year survival was 0.73+/-0.12. All surviving patients presented complete immunologic reconstitution. No patient is intravenous immunoglobulin (IVIg) replacement therapy-dependent. UCB transplantation is a valid option for children with PID who lack an HLA-identical sibling donor.

[Lung function changes after haematopoietic stem cell transplantation]. / Alteraciones de la función pulmonar tras el trasplante de progenitores hematopoyéticos.

OBJECTIVE: To evaluate lung function abnormalities in children who underwent haematopoietic stem cell transplantation (HSCT) and to compare these abnormalities between autologous and allogenic transplantation. PATIENTS AND METHODS: Prospective observational study from 1996 to 2005. Ninety-three children receiving HSCT, 47 autologous and 46 allogenic, were included. Lung function tests were performed before transplantation and at 2, 6, 12 and 24 months afterwards. The following indices were determined: forced expiratory volume in 1 s (FEV1), FEV1/forced vital capacity (FVC), total lung capacity (TLC), and carbon monoxide diffusing capacity (DLCO). Paired Student's t-test was used for statistical analysis of data. RESULTS: Before HSCT, 6.8% of the children had FEV1<80%, 1% FEV1/FVC<80%, 7.8% TLC<80% and 13.5% DLCO<70%. At 2 months, FEV1/FVC, TLC and DLCO were significantly reduced, when compared to pre-transplantation values (p=0.05, 0.011 and p<0.001, respectively). Lung function gradually improved from 6 months post-transplantation, but did not reach pre-transplantation values at 24 months. No significant differences were found when comparing allogenic and autologous transplantation, apart from a lower FEV1/FVC value at 6 months (p=0.02) in the first group. CONCLUSIONS: An important proportion of children who undergo HSCT have early pulmonary abnormalities (at 2 and 6 months after transplantation) with partial recovery at 24 months.

Primary gastrointestinal aspergillosis after autologous peripheral blood progenitor cell transplantation: an unusual presentation of invasive aspergillosis.

Primary gastrointestinal invasive aspergillosis is an unusual presentation in patients with malignancies undergoing chemotherapy. Visceral organ involvement with Aspergillus sp. most often occurs in the setting of disseminated infection. We report a case of a patient diagnosed with Wilms' tumor who developed primary gastrointestinal aspergillosis after autologous peripheral blood progenitor cell transplantation. He had no evidence of pulmonary, sinus, or central nervous system infection. The patient died of septic shock after emergency surgery.

El trasplante de células progenitoras hematopoyéticas de sangre de cordón en hemato-oncología pediátrica / Transplant of hematopoietic stem cells form the cord blood in pediatric hemato-oncology

El cordón umbilical se ha convertido en una fuente alternativa válida para el trasplante alogénico de progenitores hematopoyéticos. La experiencia clínica demuestra que es efectiva en niños con determinadas patologías hematológicas malignas y no malignas. Sin embargo, debido al gran impacto de la dosis de células infundidas y su repercusión en la mortalidad relacionada con el trasplante y la supervivencia, su uso como fuente de progenitores hematopoyéticos se ha extendido más en niños y es menor en adultos. Debido a esto, se están investigando nuevas estrategias para superar el obstáculo de la baja celularidad, como es el uso del doble trasplante de cordón (AU)

The umbilical cord has become a valid alternative source for allogeneic transplant of hematopoietic stem cells. Clinical experience shows that it is effective in children with certain malignant and non-malignant hematological diseases. However, due to the great impact of the infused cell dose ant its repercussion in transplant related mortality and survival, its use as a source of hematopoietic stem cells has become more extended in children and less in adults. Due to this, new strategies are being investigated to overcome the obstacle of low cellularity, such as the use of double cord blood transplant (AU)

Allogeneic hemopoietic stem cell transplantation (HSCT) for Wiskott-Aldrich syndrome: a report of the Spanish Working Party for Blood and Marrow Transplantation in Children (GETMON).

Allogeneic stem cell transplantation is the only curative treatment for Wiskott-Aldrich syndrome. The authors retrospectively analyzed the outcome with this procedure in 13 patients with severe Wiskott-Aldrich syndrome transplanted in 5 Spanish centers from 1989 to 2006. A patient was transplanted twice from the same donor due to a late engraftment failure. Age at transplant ranged from 7 to 192 months (median 30 months). There were 10 matched donors (3 related and 7 unrelated), 2 mismatched unrelated, and 1 haploidentical. Conditioning regimen consisted of busulfan and cyclophosphamide (BuCy) in 11 cases and fludarabine and melfalan (1) or BuCy (1). ATG was added in transplants from non-genetically matched donors. GvHD prophylaxis consisted of cyclosporine and methotrexate in most patients plus T-cell depletion in the haploidentical HSCT. Nine of the 13 transplanted patients are alive with complete clinical, immunologic, and hematologic recovery 8-204 months (median 101 months) after HSCT. Eight surviving patients had been transplanted from matched donors (3 related and 5 unrelated) and 1 from a haploidentical donor. Four patients died, 2 transplanted from matched donors (1 from acute GvHD and organ failure, 1 from a lymphoproliferative disorder after a second transplant), and 2 transplanted from mismatched unrelated donors (1 from acute GvHD and organ failure, 1 from graft failure and infection). Allogeneic hemopoietic stem cell transplantation must be utilized in all patients with severe Wisckott-Aldrich syndrome, using the most suitable graft variant for each patient.