Recognition of Li Fraumeni syndrome at diagnosis of a locally advanced extremity rhabdomyosarcoma.

Abstract:

:A contemporaneous presentation of a second breast cancer in a mother and an extremity rhabdomyosarcoma (RMS) in her daughter led to the diagnosis of the Li Fraumeni syndrome (LFS). Although the association between LFS and RMS in young patients is well recognised 1 there are no guidelines as to how this knowledge should influence the optimal management of these patients. After reviewing the literature about the natural history of the LFS 2, the incidence of second malignancy (SMN) in RMS survivors 3-6 and the management of extremity RMS 7-9, we are concerned that contemporary RMS treatment, combining non-mutilating surgery with chemoradiotherapy, may be associated with an excessive SMN risk in LFS patients with advanced RMS. We question whether treatment should be individualised and, where possible and acceptable to the family, measures such as amputation should be the considered to attain local control for LFS patients with RMS as this will avoid the need for local radiotherapy without compromising long-term function and quality of life 10.

journal_name

Pediatr Blood Cancer

journal_title

Pediatric blood & cancer

authors

Trahair T,Andrews L,Cohn RJ

doi

10.1002/pbc.20795

keywords:

subject

Has Abstract

pub_date

2007-03-01 00:00:00

pages

345-8

issue

3

eissn

1545-5009

issn

1545-5017

journal_volume

48

pub_type

杂志文章
  • The strange case of the lost NRAS mutation in a child with juvenile myelomonocytic leukemia.

    abstract::Juvenile myelomonocytic leukemia (JMML) is a rare myelodysplastic/myeloproliferative disorder of early childhood characterized by mutations of the RAS-RAF-MAP kinase signaling pathway. We report the case of a child with a diagnosis of JMML carrying two mutations of NRAS gene (c.37G>C and c.38G>A) independently occurri...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章

    doi:10.1002/pbc.23401

    authors: De Filippi P,Zecca M,Novara F,Lisini D,Maserati E,Pasquali F,Rosti V,Carlo-Stella C,Zavras N,Cagioni C,Zuffardi O,Pagliara D,Danesino C,Locatelli F

    更新日期:2012-09-01 00:00:00

  • Anaplastic large cell lymphoma of bone--is it a bad tumor?

    abstract::A teenage boy presented with a CD30-positive anaplastic large cell lymphoma (ALCL) affecting his scapula and was successfully treated with chemotherapy. His clinical features and outcome were compared with other cases described in the literature. A further review of 11 ALCL cases with bony involvement treated in the U...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章,评审

    doi:10.1002/pbc.20542

    authors: Ng A,Hobson R,Williams D,Morland B

    更新日期:2007-04-01 00:00:00

  • Acute lymphocytic leukemia in adolescence with multiple osteolytic lesions and hypercalcemia mediated by lymphoblast-producing parathyroid hormone-related peptide: a case report and review of the literature.

    abstract:BACKGROUND:Osteopathy is one of the common initial symptoms of acute lymphocytic leukemia (ALL) in children and adolescents, but multiple osteolysis accompanied by hypercalcemia is rarely observed. PROCEDURE:We treated a 14-year-old female who had multiple osteolytic lesions and hypercalcemia at initial onset of ALL. ...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章,评审

    doi:10.1002/pbc.20357

    authors: Shimonodan H,Nagayama J,Nagatoshi Y,Hatanaka M,Takada A,Iguchi H,Oda Y,Okamura J

    更新日期:2005-09-01 00:00:00

  • Normal ovarian function and assessment of ovarian reserve in the survivor of childhood cancer.

    abstract::Increasingly young people survive cancer in childhood and as a result complications of its treatment are becoming more common and important. Premature ovarian failure is recognized as a complication of radiotherapy to a field that includes the pelvis and alkylating-agent-based chemotherapy. Young pre-pubertal girls ar...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章,评审

    doi:10.1002/pbc.22012

    authors: Johnston RJ,Wallace WH

    更新日期:2009-08-01 00:00:00

  • The duration of anthracycline infusion should be at least one hour in children with cancer: A clinical practice guideline.

    abstract::We aimed to provide recommendations on the infusion duration of anthracycline chemotherapy agents in children with cancer. This study also serves as a practice example of the essential steps that need to be taken when using a previously published systematic review to develop a high-quality clinical practice guideline....

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章,实务指引,评审

    doi:10.1002/pbc.26867

    authors: Loeffen EAH,van Dalen EC,Mulder RL,van de Wetering MD,Kremer LCM,Tissing WJE,Anthracycline Cardiotoxicity Working Group.

    更新日期:2018-02-01 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

    doi:10.1002/pbc.28741

    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

  • Psychological distress in long-term survivors of solid tumors diagnosed in childhood: a report from the childhood cancer survivor study.

    abstract:PURPOSE:To evaluate and compare psychological distress in long-term survivors of solid tumors diagnosed in childhood and their siblings, and to identify significant correlates of psychological distress. PROCEDURE:Adult survivors (2,778) of solid tumors diagnosed in childhood and 2,925 siblings completed a long-term fo...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章,多中心研究

    doi:10.1002/pbc.20914

    authors: Zebrack BJ,Zevon MA,Turk N,Nagarajan R,Whitton J,Robison LL,Zeltzer LK

    更新日期:2007-07-01 00:00:00

  • Hepatoblastoma in a child with neurofibromatosis type I.

    abstract::A major hallmark of NF1 is the development of benign tumors, including peripheral neurofibromas, plexiform neurofibromas, gliomas of the optic tract, other low grade gliomas, and pheochromocytomas. Hepatoblastoma have not been previously reported in patients with neurofibromatosis type 1. We present a case of a 9-mont...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章

    doi:10.1002/pbc.20663

    authors: Uçar C,Calişkan U,Toy H,Günel E

    更新日期:2007-09-01 00:00:00

  • DLK1, a serum marker for hepatoblastoma in young infants.

    abstract::Hepatoblastoma is a malignant pediatric liver tumor. The currently used diagnostic serum marker for hepatoblastoma, α-fetoprotein (AFP), is not always reliable in infants with hepatoblastoma, due to the physiologically elevated levels of AFP in this age group. In this report, we show that Delta-like 1 homolog (DLK1), ...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章

    doi:10.1002/pbc.24024

    authors: Falix FA,Aronson DC,Lamers WH,Hiralall JK,Seppen J

    更新日期:2012-10-01 00:00:00

  • Outcomes of paroxysmal nocturnal hemoglobinuria in the pediatric age group in a resource-constrained setting.

    abstract::Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired clonal stem cell disorder. Eculizumab and bone marrow transplantation are disease-modifying treatments for PNH but may not be readily available in resource-constrained settings. Of 52 pediatric patients with PNH, 20 had classical PNH and 32 had PNH/aplastic ...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章

    doi:10.1002/pbc.27712

    authors: Halder R,Mishra P,Aggarwal M,Mannivanan P,Dhawan R,Seth T,Tyagi S,Mahapatra M,Pati HP,Saxena R

    更新日期:2020-04-01 00:00:00

  • Autologous stem cell transplantation for refractory opsoclonus myoclonus ataxia syndrome.

    abstract::Opsoclonus, myoclonus, ataxia syndrome (OMA) is a severe neurologic disorder often associated with neuroblastoma. It is challenging to treat and can have long-term neurologic sequelae. Current recommended therapies include intravenous immunoglobulin, corticosteroids, rituximab, and chemotherapy (cyclophosphamide). We ...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章

    doi:10.1002/pbc.27110

    authors: Johnston DL,Murray S,Irwin MS,Doyle J,Schechter T

    更新日期:2018-08-01 00:00:00

  • Optic pathway glioma: long-term visual outcome in children without neurofibromatosis type-1.

    abstract:BACKGROUND:Little is known about the visual outcome of children affected by an optic pathway glioma (OPG). PROCEDURES:We evaluated the long-term visual outcome of 32 consecutive children affected by OPG without neurofibromatosis type-1 referred to the Pediatric Department of Padua University and managed according to s...

    journal_title:Pediatric blood & cancer

    pub_type: 临床试验,杂志文章

    doi:10.1002/pbc.22748

    authors: Campagna M,Opocher E,Viscardi E,Calderone M,Severino SM,Cermakova I,Perilongo G

    更新日期:2010-12-01 00:00:00

  • A new clinical score for disease activity in Langerhans cell histiocytosis.

    abstract:OBJECTIVE:To develop an objective tool for assessing disease activity in patients with Langerhans cell histiocytosis (LCH). METHOD:Scoring system was developed and applied to a database containing information on 612 patients. RESULTS:At diagnosis, the score distribution was highly asymmetrical: the score was between ...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章

    doi:10.1002/pbc.20160

    authors: Donadieu J,Piguet C,Bernard F,Barkaoui M,Ouache M,Bertrand Y,Ibrahim H,Emile JF,Hermine O,Tazi A,Genereau T,Thomas C

    更新日期:2004-12-01 00:00:00

  • Paediatric and adolescent alveolar soft part sarcoma: A joint series from European cooperative groups.

    abstract:BACKGROUND:Alveolar soft part sarcomas (ASPS) are generally chemo- and radio-resistant mesenchymal tumours, with no standardized treatment guidelines. We describe the clinical behaviour of paediatric ASPS and compare these features to previously reported adult series. PATIENTS AND METHODS:The clinical data of 51 child...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章

    doi:10.1002/pbc.24683

    authors: Orbach D,Brennan B,Casanova M,Bergeron C,Mosseri V,Francotte N,Van Noesel M,Rey A,Bisogno G,Pierron G,Ferrari A

    更新日期:2013-11-01 00:00:00

  • Risk for CMV reactivation in children undergoing allogeneic hematopoietic stem cell transplantation.

    abstract::Tailoring pre-emptive CMV therapy to hematopoietic cell transplant recipients' risk for reactivation could make this approach more cost-effective. To determine the feasibility of creating a risk classification system for this purpose, we analyzed 169 pediatric HCTs involving seropositive recipients or donors. Using ri...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章

    doi:10.1002/pbc.25237

    authors: Qayed M,Khurana M,Hilinski J,Gillespie S,McCracken C,Applegate K,Chiang KY,Horan J

    更新日期:2015-02-01 00:00:00

  • A single-center experience with undifferentiated embryonal sarcoma of the liver.

    abstract::Undifferentiated embryonal sarcoma of the liver (UESL) is a rare aggressive mesenchymal pediatric tumor. Previously, reported outcomes have been very poor. Here, we report a single-center experience of five patients with UESL treated with upfront gross total resection and adjuvant chemotherapy. We have a median follow...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章

    doi:10.1002/pbc.26154

    authors: Mathias MD,Ambati SR,Chou AJ,Slotkin EK,Wexler LH,Meyers PA,Magnan H

    更新日期:2016-12-01 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

    doi:10.1002/pbc.28705

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

    更新日期:2021-01-01 00:00:00

  • Sequence analysis of the SRGN, AP3B1, ARF6, and SH2D1A genes in familial hemophagocytic lymphohistiocytosis.

    abstract::In the present study, DNA sequencing of the genes SRGN, ARF6, AP3B1, and SH2D1A was performed in a well defined cohort of 18 families with familial hemophagocytic lymphohistiocytosis (FHL). A heterozygous nucleotide change (C > T) in the 3'untranslated region of the SRGN gene and a monoallelic 3-base pair deletion (c....

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章

    doi:10.1002/pbc.21428

    authors: Ma D,Rudd E,Edner J,Gavhed S,Ramme KG,Fadeel B,Nordenskjöld M,Henter JI,Zheng C

    更新日期:2008-05-01 00:00:00

  • Improved outcome in childhood acute myeloid leukemia in Singapore with the MRC AML 10 protocol.

    abstract:BACKGROUND:The introduction of the United Kingdom Medical Research Council's 10th AML trial (MRC AML 10) protocol incorporating high-dose anthracycline therapy has improved outcome of children with acute myeloid leukemia (AML). In this study, we review the results of childhood AML therapy in a Singapore university hosp...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章

    doi:10.1002/pbc.20834

    authors: Tan RM,Quah TC,Aung L,Liang S,Kirk RC,Yeoh AE

    更新日期:2007-03-01 00:00:00

  • Improving the safety of high-dose methotrexate for children with hematologic cancers in settings without access to MTX levels using extended hydration and additional leucovorin.

    abstract:BACKGROUND:A lack of access to methotrexate levels is common in low- and middle-income countries (LMIC), relevant for 80% of children with cancer worldwide. We evaluated whether high-dose methotrexate (HD-MTX) can be administered safely with extended hydration and leucovorin rescue, with monitoring of serum creatinine ...

    journal_title:Pediatric blood & cancer

    pub_type: 临床试验,杂志文章

    doi:10.1002/pbc.27241

    authors: Vaishnavi K,Bansal D,Trehan A,Jain R,Attri SV

    更新日期:2018-12-01 00:00:00

  • Eating behaviors and dietary quality in childhood acute lymphoblastic leukemia survivors.

    abstract:BACKGROUND:Childhood acute lymphoblastic leukemia (ALL) survivors' increased risk for adverse health outcomes could be mitigated through consuming a balanced diet. Nonetheless, >70% of adult survivors do not meet survivorship dietary recommendations. ALL treatment may amplify risk for restricted dietary preferences (pi...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章

    doi:10.1002/pbc.28811

    authors: Chardon ML,Pinto S,Slayton WB,Fisher RS,Janicke DM

    更新日期:2020-12-31 00:00:00

  • Oxandrolone for the treatment of bone marrow failure in Fanconi anemia.

    abstract:BACKGROUND:A majority of Fanconi anemia (FA) patients will experience bone marrow failure (BMF) and androgen therapy (most often oxymetholone) may be utilized as a treatment to improve BMF-related cytopenias. However, oxymetholone is associated with toxicities making identification of other agents of interest. In this ...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章

    doi:10.1002/pbc.24617

    authors: Rose SR,Kim MO,Korbee L,Wilson KA,Ris MD,Eyal O,Sherafat-Kazemzadeh R,Bollepalli S,Harris R,Jeng MR,Williams DA,Smith FO

    更新日期:2014-01-01 00:00:00

  • Mycophenolate mofetil administered every 8 hours in combination with tacrolimus is efficacious in the prophylaxis of acute graft versus host disease in childhood, adolescent, and young adult allogeneic stem cell transplantation recipients.

    abstract:BACKGROUND:The optimal dose and schedule of mycophenolate mofetil (MMF) in pediatric allogeneic stem cell transplant recipients remains to be determined. We previously reported safety and pharmacokinetics of MMF at 900 mg/m2 q6h dosing. This study was conducted to investigate the efficacy of tacrolimus plus q8h MMF dos...

    journal_title:Pediatric blood & cancer

    pub_type: 临床试验,杂志文章

    doi:10.1002/pbc.27091

    authors: Militano O,Ozkaynak MF,Mehta B,van deVen C,Hamby C,Cairo MS

    更新日期:2018-08-01 00:00:00

  • The influence of patient reported outcomes on the discussion of psychosocial issues in children with cancer.

    abstract:BACKGROUND:This study investigates the effect of using patient reported outcomes (PROs) about health-related quality of life (HRQOL) in clinical practice on the type and amount of psychosocial topics discussed during a paediatric oncology consultation. PROCEDURE:Children (N = 193) with cancer participated in a sequent...

    journal_title:Pediatric blood & cancer

    pub_type: 临床试验,杂志文章,多中心研究

    doi:10.1002/pbc.24089

    authors: Engelen V,van Zwieten M,Koopman H,Detmar S,Caron H,Brons P,Egeler M,Kaspers GJ,Grootenhuis M

    更新日期:2012-07-15 00:00:00

  • A case of natural killer cell lymphoma presenting with bilateral pleural effusions and hemophagocytic lymphohistocytosis.

    abstract::Natural killer (NK) cell lymphoma of lung is very rare. We report a case of NK cell lymphoma presented in a 17-year-old male with bilateral pleural effusions and hemophagocytic lymphohistocytosis. Morphologic and immunohistochemical tests revealed an association of NK cell lymphoma with Epstein-Barr virus. A literatur...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章

    doi:10.1002/pbc.21943

    authors: Tai CF,Chang LY,Lin DT,Lin KH,Jou ST,Yang YL

    更新日期:2009-05-01 00:00:00

  • A teenage boy with late onset hemophagocytic lymphohistiocytosis with predominant neurologic disease and perforin deficiency.

    abstract::Familial hemophagocytic lymphohistiocytosis (FHLH) is an autosomal recessive disorder of cytotoxic cell function that results in abnormal proliferation of benign lymphocytes and histiocytes in response to infectious stimuli. FHLH generally occurs in very young children, and typically presents with fever, cytopenias, c...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章

    doi:10.1002/pbc.21438

    authors: Beaty AD,Weller C,Levy B,Vogler C,Ferguson WS,Bicknese A,Knutsen AP

    更新日期:2008-05-01 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

    doi:10.1002/pbc.24522

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

    更新日期:2013-08-01 00:00:00

  • Incidence of acute kidney injury among pediatric hematology/oncology patients receiving vancomycin in combination with piperacillin/tazobactam or cefepime.

    abstract::There is mounting evidence that combination of antibiotic therapy with vancomycin and piperacillin/tazobactam (pip/tazo) is associated with acute kidney injury (AKI). To determine whether vancomycin plus pip/tazo is associated with higher rates of AKI compared to vancomycin plus cefepime among pediatric hematology/onc...

    journal_title:Pediatric blood & cancer

    pub_type: 临床试验,杂志文章

    doi:10.1002/pbc.27750

    authors: Quach HT,Esbenshade AJ,Zhao Z,Banerjee R

    更新日期:2019-07-01 00:00:00

  • Identifying patient-centered outcomes for children with cancer and their caregivers when they seek care in the emergency department.

    abstract:BACKGROUND:Children with cancer have high utilization of the emergency department (ED), but little is known about which outcomes are most important to them and their caregivers when they seek care in the ED. PROCEDURE:A qualitative evaluation of ED experience for children with cancer and their caregivers was performed...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章

    doi:10.1002/pbc.27903

    authors: Mueller EL,Cochrane AR,Lynch DO,Cockrum BP,Wiehe SE

    更新日期:2019-10-01 00:00:00

  • How I approach expressing condolences and longitudinal remembering to a family after the death of a child.

    abstract::Bereaved families fear their child being forgotten by those who knew their loved child, including their child's oncology team. Thoughtfully timed, family-centric condolences shared by pediatric oncology team members have the potential to extend our compassion and kindness toward a family during the darkness of grief. ...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章

    doi:10.1002/pbc.27489

    authors: Weaver MS,Lichtenthal WG,Larson K,Wiener L

    更新日期:2019-02-01 00:00:00