A novel SAMD9 variant identified in patient with MIRAGE syndrome: Further defining syndromic phenotype and review of previous cases.

Abstract:

:We present here a case of MIRAGE syndrome due to novel variant (c.2318T>C) in the sterile α motif domain-containing protein 9 (SAMD9) gene. Previous reports have described the clinical phenotype, which includes myelodysplasia, recurrent infections, restriction of growth and development, adrenal insufficiency, genitourinary abnormalities, and enteropathies, often resulting in fatality within the first few years of life. This report illustrates the variability in phenotype by describing an 11-year-old male, diagnosed with MIRAGE at age 9 years when his novel variant was identified through whole exome sequencing. A brief review of previously published cases of MIRAGE syndrome and the genotypic and phenotypic spectrum are presented.

journal_name

Pediatr Blood Cancer

journal_title

Pediatric blood & cancer

authors

Perisa MP,Rose MJ,Varga E,Kamboj MK,Spencer JD,Bajwa RPS

doi

10.1002/pbc.27726

subject

Has Abstract

pub_date

2019-07-01 00:00:00

pages

e27726

issue

7

eissn

1545-5009

issn

1545-5017

journal_volume

66

pub_type

杂志文章,评审
  • A global perspective on sickle cell disease.

    abstract::The global burden of sickle cell disease (SCD) is now being increasingly realized. SCD poses a significant public health problem in sub-Saharan Africa, the Middle East, some regions of India, the Caribbean, and Brazil. In many of these regions, progress in the management of SCD has been slow. Long-term North-South and...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章,评审

    doi:10.1002/pbc.24175

    authors: Aygun B,Odame I

    更新日期:2012-08-01 00:00:00

  • Clinical characteristics and outcomes of HIV-infected children diagnosed with Kaposi sarcoma in Malawi and Botswana.

    abstract:BACKGROUND:Kaposi sarcoma (KS) is the most common HIV-associated malignancy in sub-Saharan Africa. The presentation and outcomes of pediatric KS are not well understood. PROCEDURE:We performed a retrospective cohort analysis of 81 HIV-infected children with KS at the Baylor Children's Clinical Centres of Excellence in...

    journal_title:Pediatric blood & cancer

    pub_type: 临床试验,杂志文章,多中心研究

    doi:10.1002/pbc.24516

    authors: Cox CM,El-Mallawany NK,Kabue M,Kovarik C,Schutze GE,Kazembe PN,Mehta PS

    更新日期:2013-08-01 00:00:00

  • Mortality in children with low-grade glioma or glioneuronal tumors: A single-institution study.

    abstract:BACKGROUND:While pediatric low-grade glioma/glioneuronal tumors (LGG/LGGNTs) are considered slow-growing, indolent tumors with excellent long-term prognosis, mortality due to the disease is not unknown. Few studies have addressed the cause of death in this population. METHODS:Retrospective review of clinicopathologic ...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章

    doi:10.1002/pbc.26717

    authors: Upadhyaya SA,Ghazwani Y,Wu S,Broniscer A,Boop FA,Gajjar A,Qaddoumi I

    更新日期:2018-01-01 00:00:00

  • Phase 1 trial, pharmacokinetics, and pharmacodynamics of dasatinib combined with crizotinib in children with recurrent or progressive high-grade and diffuse intrinsic pontine glioma.

    abstract:BACKGROUND:Progressive/recurrent high-grade and diffuse intrinsic pontine gliomas (DIPGs) are fatal. Treatments targeting molecular pathways critical for these cancers are needed. METHODS:We conducted a phase 1 study (rolling-six design) to establish the safety and maximum tolerated dose (MTD) of dasatinib, an oral pl...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章

    doi:10.1002/pbc.27035

    authors: Broniscer A,Jia S,Mandrell B,Hamideh D,Huang J,Onar-Thomas A,Gajjar A,Raimondi SC,Tatevossian RG,Stewart CF

    更新日期:2018-07-01 00:00:00

  • Importance of clinical and epidemiological research in defining the long-term clinical care of pediatric cancer survivors.

    abstract::With the increasing number of long-term survivors of childhood cancer, there continues to be a critical need for development and implementation of evidence-based recommendations for clinical follow-up. In order to establish and maintain health-related follow-up guidelines, it is important to recognize the attributes o...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章

    doi:10.1002/pbc.20609

    authors: Hawkins MM,Robison LL

    更新日期:2006-02-01 00:00:00

  • Pulmonary function in long-term survivors of pediatric hematopoietic cell transplantation.

    abstract:BACKGROUND:The purpose of this study was to determine the prevalence of pulmonary dysfunction in pediatric hematopoietic cell transplant (HCT) survivors and to identify associated risk factors. PROCEDURE:In a cross-sectional study, patients surviving at least 5 years after pediatric HCT were requested to undergo pulmo...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章

    doi:10.1002/pbc.20531

    authors: Hoffmeister PA,Madtes DK,Storer BE,Sanders JE

    更新日期:2006-10-15 00:00:00

  • Outcome of children with primary resistant or relapsed non-Hodgkin lymphoma and mature B-cell leukemia after intensive first-line treatment: a population-based analysis of the Austrian Cooperative Study Group.

    abstract:BACKGROUND:Children and adolescents with Non-Hodgkin lymphoma (NHL) and mature B-cell leukemia (B-ALL) have an excellent prognosis with contemporary chemotherapy stratified according to the histologic subtype and clinical stage of disease. However, a small subset of patients does not respond to front-line therapy or su...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章,多中心研究

    doi:10.1002/pbc.20121

    authors: Attarbaschi A,Dworzak M,Steiner M,Urban C,Fink FM,Reiter A,Gadner H,Mann G

    更新日期:2005-01-01 00:00:00

  • Follicular variant papillary thyroid carcinoma in a pediatric population.

    abstract:BACKGROUND:Follicular variant of papillary thyroid carcinoma (FVPTC) has been shown to be an intermediate entity between papillary (PTC) and follicular/Hurtle cell (FTC) thyroid carcinoma in adults. However, the tumor characteristics and prognosis of FVPTCs has not been studied in the pediatric population and is the fo...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章

    doi:10.1002/pbc.25623

    authors: Lerner J,Goldfarb M

    更新日期:2015-11-01 00:00:00

  • Multidisciplinary management of endocrinopathies and treatment-related toxicities in patients with Bloom syndrome and cancer.

    abstract::The treatment of malignancy in cancer predisposition syndromes that also confer exquisite sensitivity to standard chemotherapy and radiation regimens remains a challenge. Bloom syndrome is one such disorder that is caused by a defect in DNA repair, predisposing to the development of early-onset age-related medical con...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章

    doi:10.1002/pbc.28815

    authors: Fein Levy C,Presswala LS,Slomovic A,Stiefel J,Schulman-Rosenbaum R

    更新日期:2021-02-01 00:00:00

  • Imaging guidelines for children with Ewing sarcoma and osteosarcoma: a report from the Children's Oncology Group Bone Tumor Committee.

    abstract::The Children's Oncology Group (COG) is a multi-institutional cooperative group dedicated to childhood cancer research that has helped to increase the survival of children with cancer through clinical trials. These clinical trials include a standardized regimen of imaging examinations performed prior to, during, and fo...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章,实务指引

    doi:10.1002/pbc.21596

    authors: Meyer JS,Nadel HR,Marina N,Womer RB,Brown KL,Eary JF,Gorlick R,Grier HE,Randall RL,Lawlor ER,Lessnick SL,Schomberg PJ,Kailo MD

    更新日期:2008-08-01 00:00:00

  • Energy balance: an overview with emphasis on children.

    abstract::Childhood obesity is a significant public health problem, affecting one in five children in the United States. At the crux of this issue is a dysregulation of energy intake and energy expenditure. This review will provide an overview on energy and nutrient balance. We discuss energy balance studies in children using i...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章,评审

    doi:10.1002/pbc.23375

    authors: Tam CS,Ravussin E

    更新日期:2012-01-01 00:00:00

  • Chemotherapy responsiveness in a patient with multiply relapsed ameloblastic fibro-odontosarcoma of the maxilla.

    abstract::Ameloblastic fibro-odontosarcoma (AFOS) is an extremely rare malignant odontogenic tumor. Complete surgical excision is the treatment of choice. Deaths due to disease recurrence and/or progression are documented. Here, we report the case of a 15-year-old female with multiple recurrent AFOS. She responded to chemothera...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章

    doi:10.1002/pbc.25627

    authors: Gatz SA,Thway K,Mandeville H,Kerawala C,MacVicar D,Chisholm J

    更新日期:2015-11-01 00:00:00

  • Influence of pediatric cancer-related financial burden on parent distress and other stress-related symptoms.

    abstract:BACKGROUND:Pediatric cancer-induced financial burden is source of stress for parents, particularly mothers, single parents, and parents with lower incomes. This financial burden has been linked to poorer family quality of life (QOL) in terms of new onset material hardships, and could also affect individual QOL in terms...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章

    doi:10.1002/pbc.28093

    authors: Santacroce SJ,Kneipp SM

    更新日期:2020-03-01 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

    doi:10.1002/pbc.24936

    authors: Chan R,Mascarenhas L,Venkatramani R

    更新日期:2014-08-01 00:00:00

  • Factors affecting response to everolimus therapy for subependymal giant cell astrocytomas associated with tuberous sclerosis.

    abstract:BACKGROUND:The aim of the study was to investigate factors affecting response to everolimus, a mammalian-target-of-rapamycin (mTOR) inhibitor, of subependymal giant cell astrocytomas (SEGA) in patients with tuberous sclerosis complex (TSC). METHODS:The study group consisted of 15 children with a diagnosis of TSC-relat...

    journal_title:Pediatric blood & cancer

    pub_type: 临床试验,杂志文章

    doi:10.1002/pbc.25368

    authors: Trelinska J,Dachowska I,Kotulska K,Baranska D,Fendler W,Jozwiak S,Mlynarski W

    更新日期:2015-04-01 00:00:00

  • The importance of enteral nutrition to prevent or treat undernutrition in children undergoing treatment for cancer.

    abstract::Nutrition therapy is a therapeutic approach to treating medical conditions and symptoms via diet, which can be done by oral, enteral or parenteral routes. It is desirable to include nutritional interventions as a standard of care in pediatric cancer units (PCUs) at all levels of care. The interventions are dependent o...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章,评审

    doi:10.1002/pbc.28378

    authors: Trehan A,Viani K,da Cruz LB,Sagastizado SZ,Ladas EJ

    更新日期:2020-06-01 00:00:00

  • Extramedullary infiltration at diagnosis and prognosis in children with acute myelogenous leukemia.

    abstract:BACKGROUND:Extramedullary infiltration (EMI) is an occasional clinical symptom in childhood acute myelogenous leukemia (AML), but there is considerable controversy regarding the prognostic significance of EMI in AML. PROCEDURE:We evaluated the frequency and prognostic significance of EMI at diagnosis of AML in childre...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章

    doi:10.1002/pbc.20824

    authors: Kobayashi R,Tawa A,Hanada R,Horibe K,Tsuchida M,Tsukimoto I,Japanese childhood AML cooperative study group.

    更新日期:2007-04-01 00:00:00

  • Prevalence of abnormal bone density of pediatric patients prior to blood or marrow transplant.

    abstract::Osteoporosis and osteopenia are long-term side effects of bone marrow transplant (BMT). The purpose of this study was to determine the prevalence of bone mineral density (BMD) abnormalities in pediatric patients prior to BMT. Forty-four pediatric patients were evaluated with DEXA scans. The average Z-score was -0.37. ...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章

    doi:10.1002/pbc.22102

    authors: Klopfenstein KJ,Clayton J,Rosselet R,Kerlin B,Termuhlen A,Gross T

    更新日期:2009-10-01 00:00:00

  • Adolescent and young adult oncology: transition of care.

    abstract::The fundamental purposes underlying formal health care transition from the pediatric to adult setting for young adult survivors of childhood cancer are to facilitate the continuous, medically and developmentally appropriate implementation of risk-based guidelines for the monitoring and management of late effects of ch...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章,评审

    doi:10.1002/pbc.21455

    authors: Freyer DR,Brugieres L

    更新日期:2008-05-01 00:00:00

  • Subcutaneous immunoglobulin replacement following CD19-specific chimeric antigen receptor T-cell therapy for B-cell acute lymphoblastic leukemia in pediatric patients.

    abstract::Twenty-eight patients were maintained on subcutaneous immunoglobulin replacement for persistent B-cell aplasia and agammaglobulinemia following CD19-targeted chimeric antigen receptor T-cell therapy for B-cell lymphoblastic leukemia. Patients were transitioned from intravenous to subcutaneous immunoglobulin replacemen...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章

    doi:10.1002/pbc.28092

    authors: Arnold DE,Maude SL,Callahan CA,DiNofia AM,Grupp SA,Heimall JR

    更新日期:2020-03-01 00:00:00

  • Preventing Infections in Sickle Cell Disease: The Unfinished Business.

    abstract::While encapsulated bacterial agents, particularly Streptococcus pneumoniae, are recognized as important microbes that are associated with serious illness in hosts with sickle cell disease (SCD), multiple pathogens are implicated in infectious manifestations of SCD. Variations in clinical practice have been an obstacle...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章,评审

    doi:10.1002/pbc.25911

    authors: Obaro SK,Iroh Tam PY

    更新日期:2016-05-01 00:00:00

  • Children with sickle cell disease migrating to the United States from sub-Saharan Africa.

    abstract::Sickle cell disease (SCD) is an inherited red blood cell disorder that occurs worldwide and results in significant morbidity and mortality. In addition to affected children who are born in the US, an increasing number of children with SCD are migrating to the US with their families or through international adoption. C...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章

    doi:10.1002/pbc.27000

    authors: Thornburg CD,Ware RE

    更新日期:2018-06-01 00:00:00

  • The burden of childhood cancer in Mexico: Implications for low- and middle-income countries.

    abstract::In Mexico, childhood cancer incidence and mortality have increased in the last decade. Through government actions since 2005, the Popular Medical Insurance (PMI) program for childhood cancer was created. The objective of PMI was to offer early cancer diagnosis, standardized treatment regimens, and numerous pediatric o...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章,评审

    doi:10.1002/pbc.26366

    authors: Rivera-Luna R,Zapata-Tarres M,Shalkow-Klincovstein J,Velasco-Hidalgo L,Olaya-Vargas A,Finkelstein-Mizrahi N,Cárdenas-Cardós R,Aguilar-Ortiz MR

    更新日期:2017-06-01 00:00:00

  • Magnetic resonance imaging in childhood leukemia survivors treated with cranial radiotherapy: a cross sectional, single center study.

    abstract:BACKGROUND:Children treated with cranial radiotherapy (CRT) for leukemia are at risk of developing central nervous system injuries. Magnetic resonance imaging (MRI) represents the examination method of choice for evaluating radiation-induced brain complications. The purpose of this report is to describe the spectrum of...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章

    doi:10.1002/pbc.22923

    authors: Faraci M,Morana G,Bagnasco F,Barra S,Polo P,Hanau G,Fioredda F,Caruso S,Rossi A,Spaziante R,Haupt R

    更新日期:2011-08-01 00:00:00

  • Parental views on tissue banking in pediatric oncology patients.

    abstract:PURPOSE:Research using banked tissue is key to advancing risk-stratification and treatment of children with cancer. Knowledge of parental attitudes to ethical issues arising in tissue banking is very limited but essential in obtaining respectful consent. METHODS:One hundred parents of consecutively diagnosed children ...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章

    doi:10.1002/pbc.22716

    authors: McMurter B,Parker L,Fraser RB,Magee JF,Kozancyzn C,Fernandez CV

    更新日期:2011-12-15 00:00:00

  • Thiotepa/topotecan/carboplatin with autologous stem cell rescue in recurrent/refractory/poor prognosis pediatric malignancies of the central nervous system.

    abstract:BACKGROUND:Thiotepa and carboplatin are known to be active in central nervous system tumors. Topotecan potentiates the anti-cancer effects of alkylators and crosses the blood-brain barrier. We present ten patients with recurrent or progressive central nervous system malignancies treated on a myeloablative regimen using...

    journal_title:Pediatric blood & cancer

    pub_type: 临床试验,杂志文章

    doi:10.1002/pbc.22347

    authors: Gilheeney SW,Khakoo Y,Souweidane M,Wolden S,Boulad F,Dunkel IJ

    更新日期:2010-04-01 00:00:00

  • Second cancer risk in childhood cancer survivors treated with intensity-modulated radiation therapy (IMRT).

    abstract:BACKGROUND:Treatment with radiotherapy (RT) is associated with an increased risk of second malignant neoplasms (SMNs) in childhood cancer survivors; it is unclear how treatment with intensity-modulated radiation therapy (IMRT) impacts this risk. We provide the first report of SMN risk in a cohort of childhood cancer su...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章

    doi:10.1002/pbc.25285

    authors: Casey DL,Friedman DN,Moskowitz CS,Hilden PD,Sklar CA,Wexler LH,Wolden SL

    更新日期:2015-02-01 00:00:00

  • Plasma levels of osteopontin from birth to adulthood.

    abstract:AIM:Osteopontin (OPN) has been investigated as a biomarker for cancer and nonmalignant diseases during the last decades. Data about OPN as a potential biomarker in childhood diseases are still sparse, and reference values are not available in children. We aimed to establish reference values for children from birth to y...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章

    doi:10.1002/pbc.28272

    authors: Nourkami-Tutdibi N,Graf N,Beier R,Zemlin M,Tutdibi E

    更新日期:2020-07-01 00:00:00

  • Thrombophilia testing in children: a 7 year experience.

    abstract:BACKGROUND:Incidence of venous thromboembolism (VTE) in children is reported to be increasing. We examined thrombophilia testing results in children with VTE that presented in inpatient and outpatient settings to explore patterns of thrombophilia testing. PROCEDURE: PATIENTS/METHODS:Children, ages 0-20 years with VTE...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章

    doi:10.1002/pbc.24846

    authors: Mahajerin A,Obasaju P,Eckert G,Vik TA,Mehta R,Heiny M

    更新日期:2014-03-01 00:00:00

  • Hydroxyurea use among children with sickle cell anemia.

    abstract::This study describes hydroxyurea use among children ages 1 to 17 with sickle cell anemia (SCA) enrolled in at least one year of Medicaid in six states from 2005 to 2012. Administrative claims were used to summarize the number of days' supply of hydroxyurea dispensed by state and year. A total of 7963 children with SCA...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章

    doi:10.1002/pbc.27721

    authors: Reeves SL,Jary HK,Gondhi JP,Raphael JL,Lisabeth LD,Dombkowski KJ

    更新日期:2019-06-01 00:00:00