A novel homozygous VPS45 p.P468L mutation leading to severe congenital neutropenia with myelofibrosis.


:VPS45-associated severe congenital neutropenia (SCN) is a rare disorder characterized by life-threating infections, neutropenia, neutrophil and platelet dysfunction, poor response to filgrastim, and myelofibrosis with extramedullary hematopoiesis. We present a patient with SCN due to a homozygous c.1403C>T (p.P468L) mutation in VPS45, critical regulator of SNARE-dependent membrane fusion. Structural modeling indicates that P468, like the T224 and E238 residues affected by previously reported mutations, cluster in a VPS45 "hinge" region, indicating its critical role in membrane fusion and VPS45-associated SCN. Bone marrow transplantation, complicated by early graft failure rescued with stem cell boost, led to resolution of the hematopoietic phenotype.


Pediatr Blood Cancer


Pediatric blood & cancer


Shah RK,Munson M,Wierenga KJ,Pokala HR,Newburger PE,Crawford D




Has Abstract


2017-09-01 00:00:00










  • A single-center experience using alemtuzumab, fludarabine, melphalan, and thiotepa as conditioning for transplantation in pediatric patients with chronic granulomatous disease.

    abstract::Chronic granulomatous disease (CGD) is an immune deficiency characterized by defective neutrophil function and increased risk of life-threatening infections. Allogeneic hematopoietic cell transplantation is curative for CGD, and conditioning regimen impacts transplant-related outcomes. We report a single-center prospe...

    journal_title:Pediatric blood & cancer

    pub_type: 临床试验,杂志文章


    authors: Bhatt ST,Schulz G,Hente M,Slater A,Murray L,Shenoy S,Bednarski JJ

    更新日期:2020-01-01 00:00:00

  • Sex ratio among childhood cancers by single year of age.

    abstract:BACKGROUND:The male excess in childhood cancer incidence is well-established; however, the underlying biologic mechanisms remain unknown. Examining the association between male sex and childhood cancer by single year of age and tumor type may highlight important periods of risk such as variation in growth and hormonal ...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Williams LA,Richardson M,Marcotte EL,Poynter JN,Spector LG

    更新日期:2019-06-01 00:00:00

  • Invasive bacterial and fungal infections in paediatric patients with cancer: incidence, risk factors, aetiology and outcomes in a UK regional cohort 2009-2011.

    abstract:BACKGROUND:Cancer is the second most common cause of childhood deaths in the United Kingdom and infection contributes to a quarter of all cancer-related deaths. This study aimed to estimate the risk, aetiology and outcome of bloodstream bacterial and fungal infections in children with cancer within a geographically def...

    journal_title:Pediatric blood & cancer

    pub_type: 临床试验,杂志文章,多中心研究


    authors: Calton EA,Le Doaré K,Appleby G,Chisholm JC,Sharland M,Ladhani SN,CABIN Participants.

    更新日期:2014-07-01 00:00:00

  • Pharmacokinetic interaction between methotrexate and chloral hydrate.

    abstract::We report the case of a drug interaction between methotrexate (MTX) and chloral hydrate (CH) observed in a child treated for acute leukemia. Significantly slower MTX clearance and increased MTX exposure occurred on the first three courses of a high-dose chemotherapy when co-administered with CH despite normal renal fu...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Dao K,Ivanyuk A,Buclin T,Beck-Popovic M,Diezi M

    更新日期:2013-03-01 00:00:00

  • CNS-directed therapy in young children with T-lineage acute lymphoblastic leukemia: High-dose methotrexate versus cranial irradiation.

    abstract:BACKGROUND:Prophylactic use of cranial radiation therapy (CRT) in young children with acute lymphoblastic leukemia (ALL) is associated with significant long-term morbidity. Therefore, current treatment protocols for pediatric B-precursor ALL have abandoned prophylactic CRT in favor of intrathecal chemotherapy, combined...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Nathan PC,Maze R,Spiegler B,Greenberg ML,Weitzman S,Hitzler JK

    更新日期:2004-01-01 00:00:00

  • Treatment of intestinal and hepatic mucormycosis in an immunocompromized child.

    abstract::During ALL chemotherapy, a 4-year-old patient presented with febrile neutropenia and abdominal pain. Ultrasound examinations were repeatedly normal. Computerized tomography on day 7 demonstrated appendicitis and multiple hepatic foci identified as mucormycosis (Absidia corymbifera). Successful outcome was achieved by ...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Lüer S,Berger S,Diepold M,Duppenthaler A,von Gunten M,Mühlethaler K,Wolf R,Aebi C

    更新日期:2009-07-01 00:00:00

  • A family with Hoyeraal-Hreidarsson syndrome and four variants in two genes of the telomerase core complex.

    abstract::We describe an African American family with Hoyeraal-Hreidarrson syndrome (HHS) in which 2 TERT mutations (causing P530L and A880T amino acid changes) and two in the DKC1 variants (G486R and A487A) were segregating. Both genes are associated with dyskeratosis congenita and HHS. It was important to determine the import...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Vogiatzi P,Perdigones N,Mason PJ,Wilson DB,Bessler M

    更新日期:2013-06-01 00:00:00

  • Contribution of fibrinolytic tests to the differential diagnosis of veno-occlusive disease complicating pediatric hematopoietic stem cell transplantation.

    abstract:BACKGROUND:Veno-occlusive disease (VOD) is a major complication following hematopoietic stem cell transplantation (HSCT). Its diagnosis is based on clinical criteria, which have a limited sensitivity. Increased plasminogen activator inhibitor-1 (PAI-1) levels have been suggested as a marker of VOD. We aimed to prospect...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Sartori MT,Cesaro S,Peruzzo M,Messina C,Saggiorato G,Calore E,Pillon M,Varotto S,Spiezia L,Cella G

    更新日期:2012-05-01 00:00:00

  • A systematic review of dental late effects in survivors of childhood cancer.

    abstract::Survivors of childhood cancer are at risk for dental late effects. This systematic review summarizes associations between treatment exposures and dental late effects among survivors of childhood cancer. We included investigations with at least 20 study participants conducted for 2 or more years after completion of chi...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章,评审


    authors: Gawade PL,Hudson MM,Kaste SC,Neglia JP,Constine LS,Robison LL,Ness KK

    更新日期:2014-03-01 00:00:00

  • Physician perceptions and beliefs of phase I trials in pediatric oncology.

    abstract::The identification and referral of candidate patients for phase I trials relies heavily on pediatric oncologists who must balance their own perceptions of phase I trials with the desires of the patient and his/her family. A survey was sent to 419 physicians practicing pediatric oncology at 30 different institutions. R...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章,多中心研究,随机对照试验


    authors: Gilliam MB,Madan-Swain A,Adams JM,Pressey JG

    更新日期:2013-08-01 00:00:00

  • Caregivers' Self-Reported Absence of Social Support Networks is Related to Treatment Abandonment in Children With Cancer.

    abstract:BACKGROUND:Treatment abandonment (TxA) is a primary cause of therapy failure in children with cancer in low-/middle-income countries. We explored the absence of social support network (SSN), among other predictive factors, and TxA in children with cancer in Cali, Colombia. PROCEDURE:In this prospective cohort study, w...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Ospina-Romero M,Portilla CA,Bravo LE,Ramirez O,VIGICANCER working group.

    更新日期:2016-05-01 00:00:00

  • Integrated DNA and RNA sequencing reveals targetable alterations in metastatic pediatric papillary thyroid carcinoma.

    abstract:BACKGROUND:Pediatric papillary thyroid carcinoma (PTC) is clinically and biologically distinct from adult PTC. We sequenced a cohort of clinically annotated pediatric PTC cases enriched for high-risk tumors to identify genetic alterations of relevance for diagnosis and therapy. METHODS:Tumor DNA and RNA were extracted...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Potter SL,Reuther J,Chandramohan R,Gandhi I,Hollingsworth F,Sayeed H,Voicu H,Kakkar N,Baksi KS,Sarabia SF,Lopez ME,Chelius DC,Athanassaki ID,Mahajan P,Venkatramani R,Quintanilla NM,Lopez-Terrada DH,Roy A,Parsons DW

    更新日期:2021-01-01 00:00:00

  • Choroid plexus tumors; management, outcome, and association with the Li-Fraumeni syndrome: the Children's Hospital Los Angeles (CHLA) experience, 1991-2010.

    abstract:BACKGROUND:Choroid plexus tumors (CPT) are rare, and predominate in early childhood. An association with the Li-Fraumeni syndrome (LFS) has been reported, but the biological and clinical implications of this association remain poorly defined. We have investigated the clinical features and overall survival of all CPT pa...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Gozali AE,Britt B,Shane L,Gonzalez I,Gilles F,McComb JG,Krieger MD,Lavey RS,Shlien A,Villablanca JG,Erdreich-Epstein A,Dhall G,Jubran R,Tabori U,Malkin D,Finlay JL

    更新日期:2012-06-01 00:00:00

  • Clinical phenotype and genetic analysis of RPS19, RPL5, and RPL11 genes in Greek patients with Diamond Blackfan Anemia.

    abstract:BACKGROUND:Diamond Blackfan Anemia (DBA) is a rare congenital, bone marrow failure syndrome characterized by normochromic macrocytic anemia, reticulocytopenia and absence or insufficiency of erythroid precursors in normocellular bone marrow, frequently associated with somatic malformations. Here, we present our finding...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Delaporta P,Sofocleous C,Stiakaki E,Polychronopoulou S,Economou M,Kossiva L,Kostaridou S,Kattamis A

    更新日期:2014-12-01 00:00:00

  • Fournier's gangrene and scrotal ulcerations during all-trans-retinoic acid therapy for acute promyelocytic leukemia.

    abstract::Scrotal ulcers are a rare manifestation in patients with acute promyelocytic leukemia. Fournier's gangrene (FG) is even rarer. We describe three adolescents and young adults who developed scrotal ulcerations during induction with all-trans-retinoic acid. One patient developed FG. These lesions are predominantly seen i...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Naithani R,Kumar R,Mahapatra M

    更新日期:2008-08-01 00:00:00

  • Hepatoblastoma and hypoplastic kidneys: a new association.

    abstract::Both hepatoblastoma and hypoplastic kidneys are rare in children. A review of all patients with hepatoblastoma treated at our institution between 1993 and 2011 revealed three cases of hepatoblastoma occurring in children with hypoplastic kidneys and significantly impaired renal function. Two patients were treated with...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Chan R,Mascarenhas L,Venkatramani R

    更新日期:2014-08-01 00:00:00

  • An overview of mongenic and syndromic obesities in humans.

    abstract::Obesity is increasing in prevalence in the United States with over 65% of adults considered overweight and 16% of children with BMI > 95 percentile. The heritability of obesity is estimated between 40% and 70%, but the genetics of obesity for most individuals are complex and involve the interaction of multiple genes a...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Chung WK

    更新日期:2012-01-01 00:00:00

  • Long-term outcomes of children with extracutaneous juvenile xanthogranulomas in Japan.

    abstract:BACKGROUND:Juvenile xanthogranuloma (JXG) is the most common non-Langerhans cell histiocytosis in children. The mortality and morbidity of JXG with extracutaneous lesions remain unclear. METHODS:Data of patients aged < 18 years who were diagnosed with JXG between 2001 and 2010 were retrospectively collected through a ...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Maeda M,Morimoto A,Shioda Y,Asano T,Koga Y,Nakazawa Y,Kanegane H,Kudo K,Ohga S,Ishii E,Histiocytosis Study Group of the Japanese Society of Pediatric Hematology\/Oncology.

    更新日期:2020-07-01 00:00:00

  • Cancer surveillance and control in adolescents--similarities and contrasts between Canada and the United States.

    abstract::Opportunities for cancer prevention in adolescents range from limitation of sun exposure to the use of human papillomavirus vaccines. Those who develop malignant disease experience longer waiting times for diagnosis and treatment than do children, especially when referred to adult treatment centers, and they are less ...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章,评审


    authors: Barr RD,Greenberg ML

    更新日期:2006-03-01 00:00:00

  • Detection of cell-free RNA in children with neuroblastoma and comparison with that of whole blood cell RNA.

    abstract:BACKGROUND:Since there is no validated assay to monitor disease in children with neuroblastoma (NB), we tested whether NB specific cell-free RNA could be detected in their plasma samples. Moreover, with the aim of reducing patients' discomfort, we compared this assay to a recently standardized procedure that uses a lar...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Corrias MV,Pistorio A,Cangemi G,Tripodi G,Carlini B,Scaruffi P,Fardin P,Garaventa A,Pistoia V,Haupt R

    更新日期:2010-07-01 00:00:00

  • Assessment of Financial Burden as a Standard of Care in Pediatric Oncology.

    abstract::Family financial hardship has emerged as a burden of pediatric cancer treatment with negative implications for family well-being. As part of an extensive project to create evidence-based standards for the psychosocial care of children with cancer, we performed a literature review of pediatric cancer-associated financi...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章,评审


    authors: Pelletier W,Bona K

    更新日期:2015-12-01 00:00:00

  • Medical and rehabilitation interventions in pediatric central nervous system radiation necrosis: A case report.

    abstract::Radiation necrosis is a potentially debilitating side effect of therapy necessary to treat pediatric central nervous system tumors. Clinical signs of cerebral radiation necrosis (CRN) are similar to symptoms of disease progression and require close monitoring. The case of an infant diagnosed with a malignant rhabdoid ...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: L'Hotta AJ,Thomas KM,Milgrom SA,Hemenway MS,Levy JMM

    更新日期:2021-01-01 00:00:00

  • Initial testing (stage 1) of M6620 (formerly VX-970), a novel ATR inhibitor, alone and combined with cisplatin and melphalan, by the Pediatric Preclinical Testing Program.

    abstract:BACKGROUND:M6620 is a novel inhibitor of the DNA damage repair enzyme ATR, and has potentiated the activity of cisplatin and irinotecan in non-small cell lung cancer and colon cancer xenografts, respectively. PROCEDURES:M6620 was tested in vitro at concentrations ranging from 1.0 nM to 10.0 μM and at 75 nM in combinat...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Kurmasheva RT,Kurmashev D,Reynolds CP,Kang M,Wu J,Houghton PJ,Smith MA

    更新日期:2018-02-01 00:00:00

  • Promoting adherence in adolescents and young adults with cancer to optimize outcomes: A developmentally oriented narrative review.

    abstract::Adherence is a critical consideration in ongoing efforts to improve outcomes among adolescents and young adults (AYAs) with cancer. In this narrative review, we embed existing conceptualizations of adherence within a developmental context to provide a novel vantage point from which to examine this important issue. App...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章,评审


    authors: Vandermorris A,Sampson L,Korenblum C

    更新日期:2020-04-01 00:00:00

  • MicroRNA expression and activity in pediatric acute lymphoblastic leukemia (ALL).

    abstract::Acute lymphoblastic leukemia (ALL) is the most common type of pediatric neoplasia. Highly heterogeneous, ALL includes several genetic subtypes with varying clinical outcome. Although, some features are well established as prognostic predictors, the details of the molecular mechanisms underlying different phenotypes ar...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章,评审


    authors: de Oliveira JC,Brassesco MS,Scrideli CA,Tone LG,Narendran A

    更新日期:2012-10-01 00:00:00

  • The effect of central nervous system involvement and irradiation in childhood acute lymphoblastic leukemia: Lessons from the NOPHO ALL-92 and ALL-2000 protocols.

    abstract:BACKGROUND:Central nervous system irradiation (CNS-RT) has played a central role in the cure of acute lymphoblastic leukemia (ALL), but due to the risk of long-term toxicity, it is now considered a less-favorable method of CNS-directed therapy. PROCEDURES:Retrospectively, we estimated the effect of CNS involvement and...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Taskinen M,Oskarsson T,Levinsen M,Bottai M,Hellebostad M,Jonsson OG,Lähteenmäki P,Schmiegelow K,Heyman M

    更新日期:2017-02-01 00:00:00

  • Pharmacologic inhibition of epigenetic modification reveals targets of aberrant promoter methylation in Ewing sarcoma.

    abstract:BACKGROUND:Ewing sarcoma (ES), a highly aggressive tumor of children and young adults, is characterized most commonly by an 11;22 chromosomal translocation that fuses EWSR1 located at 22q12 with FLI1, coding for a member of the ETS family of transcription factors. Although genetic changes in ES have been extensively re...

    journal_title:Pediatric blood & cancer

    pub_type: 临床试验,杂志文章,多中心研究


    authors: Nestheide S,Bridge JA,Barnes M,Frayer R,Sumegi J

    更新日期:2013-09-01 00:00:00

  • Delivery of radiation therapy in resource-limited settings: A pilot quality assessment study.

    abstract::Progress has been made in resource-limited countries in treating acute lymphoblastic leukemia, but advances in solid malignancies have been slower. Multidisciplinary care coordination is challenging, assessing adherence to guidelines through quality improvement initiatives is essential. We characterized deviations fro...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Power-Hays A,Friedrich P,Fernandez G,Cruz NA,Marcus K,Rodriguez-Galindo C,Collado L

    更新日期:2017-08-01 00:00:00

  • Recommendations for medical care in the pediatric oncology camp setting: Consensus statements based on Delphi methodology.

    abstract::For many children with cancer, participation in oncology camp programs is an important component of healing that offers opportunities for fun and can have substantial impacts on social and physical well-being. Optimal medical care and infectious screening for children attending oncology camp is critical to maximize sa...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Alexander S,Science M,Breakey V,Clarke A,Gibson P

    更新日期:2020-03-01 00:00:00

  • Medulloblastoma in childhood: Impact of radiation technique upon the outcome of treatment.

    abstract:BACKGROUND:Medulloblastoma is an infratentorial primitive neuroectodermal tumour, diagnosed in paediatric population. The radiotherapy is an essential method of treatment for these tumours. The impact of technical quality of radiation therapy on survival was recently considered. In this study treatment-related variable...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Chojnacka M,Skowrońska-Gardas A

    更新日期:2004-02-01 00:00:00