Scholars@Duke
David Sinclaire Van Mater

David Sinclaire Van Mater

Assistant Professor of Pediatrics
Pediatrics, Hematology-Oncology
david.vanmater@duke.edu
102382, Durham, NC 27710
Dept of Pediatrics, Box 2916, Durham, NC 27710

Selected Publications

Successful Management of Cushing Syndrome From Ectopic ACTH Secretion in an Adolescent With Osilodrostat.

Journal Article JCEM Case Rep · July 2023 A previously healthy 11-year-old male was found to have a mass in the pancreatic head after several months of abdominal pain and jaundice. Pathology was consistent with a World Health Organization grade 2 pancreatic neuroendocrine tumor. He developed refra ... Full text Link to item Cite

Molecular and phenotypic diversity of CBL-mutated juvenile myelomonocytic leukemia.

Journal Article Haematologica · January 1, 2022 Mutations in the gene CBL were first identified in adults with various myeloid malignancies. Some patients with juvenile myelomonocytic leukemia (JMML) were also noted to harbor mutations in CBL, but were found to have generally less aggressive disease cou ... Full text Link to item Cite

Receptor tyrosine kinase inhibitors for the treatment of osteosarcoma and Ewing sarcoma.

Journal Article Pediatr Blood Cancer · August 2021 Adjuvant chemotherapy for osteosarcoma and Ewing sarcoma consists of conventional cytotoxic regimens that have changed little over the past decades. There is an urgent need for agents that are more effective and have less long-term toxicity. Receptor tyros ... Full text Link to item Cite

A phase I trial of the CDK 4/6 inhibitor palbociclib in pediatric patients with progressive brain tumors: A Pediatric Brain Tumor Consortium study (PBTC-042).

Journal Article Pediatr Blood Cancer · April 2021 BACKGROUND: Disruption of cell-cycle regulators is a potential therapeutic target for brain tumors in children and adolescents. The aim of this study was to determine the maximum tolerated dose (MTD) and describe toxicities related to palbociclib, a select ... Full text Link to item Cite

Sweet Syndrome in Pediatric Acute Myeloid Leukemia.

Journal Article J Pediatr Hematol Oncol · January 2021 Full text Link to item Cite

Genitourinary manifestations of hereditary cancer predisposition syndromes in children

Journal Article Translational Andrology and Urology · October 1, 2020 Several hereditary cancer predisposition syndromes are associated with genitourinary (GU) manifestations in children. The GU manifestation may be the first symptom of a more global syndrome to arise, which places the pediatric urologist in a unique positio ... Full text Cite

Mutational landscape in genetically engineered, carcinogen-induced, and radiation-induced mouse sarcoma.

Journal Article JCI Insight · July 11, 2019 Cancer development is influenced by hereditary mutations, somatic mutations due to random errors in DNA replication, or external factors. It remains unclear how distinct cell-intrinsic and -extrinsic factors impact oncogenesis within the same tissue type. ... Full text Link to item Cite

Management of recurrent Ewing sarcoma: challenges and approaches.

Journal Article Onco Targets Ther · 2019 Although many patients with newly diagnosed Ewing sarcoma can become long-term survivors, relapse remains an important clinical problem for which there is no standard approach. Several prognostic factors have been identified, and these may help guide patie ... Full text Link to item Cite

Somatic Mosaicism of IDH1 R132H Predisposes to Anaplastic Astrocytoma: A Case of Two Siblings.

Journal Article Front Oncol · 2019 Anaplastic astrocytomas are aggressive glial cancers that present poor prognosis and high recurrence. Heterozygous IDH1 R132H mutations are common in adolescent and young adult anaplastic astrocytomas. In a majority of cases, the IDH1 R132H mutation is uni ... Full text Link to item Cite

Injury promotes sarcoma development in a genetically and temporally restricted manner.

Journal Article JCI Insight · October 18, 2018 Cancer results from the accumulation of genetic mutations in a susceptible cell of origin. We and others have also shown that injury promotes sarcoma development, but how injury cooperates with genetic mutations at the earliest stages of tumor formation is ... Full text Link to item Cite

Generation and comparison of CRISPR-Cas9 and Cre-mediated genetically engineered mouse models of sarcoma.

Journal Article Nat Commun · July 10, 2017 Genetically engineered mouse models that employ site-specific recombinase technology are important tools for cancer research but can be costly and time-consuming. The CRISPR-Cas9 system has been adapted to generate autochthonous tumours in mice, but how th ... Full text Link to item Cite

Bone marrow transplantation for CVID-like humoral immune deficiency associated with red cell aplasia.

Journal Article Pediatr Blood Cancer · October 2016 Patients with common variable immunodeficiency (CVID) have a higher incidence of autoimmune disease, which may mark the disease onset; however, anemia secondary to pure red cell aplasia is an uncommon presenting feature. Here, we describe a case of CVID-li ... Full text Link to item Cite

Acute tissue injury activates satellite cells and promotes sarcoma formation via the HGF/c-MET signaling pathway.

Journal Article Cancer Res · February 1, 2015 Some patients with soft-tissue sarcoma (STS) report a history of injury at the site of their tumor. Although this phenomenon is widely reported, there are relatively few experimental systems that have directly assessed the role of injury in sarcoma formati ... Full text Link to item Cite

Methods to generate genetically engineered mouse models of soft tissue sarcoma.

Journal Article Methods Mol Biol · 2015 We discuss the generation of primary soft tissue sarcomas in mice using the Cre-loxP system to activate conditional mutations in oncogenic Kras and the tumor suppressor p53 (LSL-Kras(G12D/+); p53(flox/flox)). Sarcomas can be generated either by adenoviral ... Full text Link to item Cite

Abstract A64: A role for injury in sarcomagenesis

Conference Cancer Research · October 15, 2014 AbstractWe developed a primary mouse model of embryonal rhabdomyosarcoma and discovered that tissue injury dramatically accelerates sarcoma formation at the site of injury. We were intrigued by this finding ... Full text Cite

MicroRNA-182 drives metastasis of primary sarcomas by targeting multiple genes.

Journal Article J Clin Invest · October 2014 Metastasis causes most cancer deaths, but is incompletely understood. MicroRNAs can regulate metastasis, but it is not known whether a single miRNA can regulate metastasis in primary cancer models in vivo. We compared the expression of miRNAs in metastatic ... Full text Link to item Cite

Successful Management of Cushing Syndrome From Ectopic ACTH Secretion in an Adolescent With Osilodrostat.

Journal Article JCEM Case Rep · July 2023 A previously healthy 11-year-old male was found to have a mass in the pancreatic head after several months of abdominal pain and jaundice. Pathology was consistent with a World Health Organization grade 2 pancreatic neuroendocrine tumor. He developed refra ... Full text Link to item Cite

Molecular and phenotypic diversity of CBL-mutated juvenile myelomonocytic leukemia.

Journal Article Haematologica · January 1, 2022 Mutations in the gene CBL were first identified in adults with various myeloid malignancies. Some patients with juvenile myelomonocytic leukemia (JMML) were also noted to harbor mutations in CBL, but were found to have generally less aggressive disease cou ... Full text Link to item Cite

Receptor tyrosine kinase inhibitors for the treatment of osteosarcoma and Ewing sarcoma.

Journal Article Pediatr Blood Cancer · August 2021 Adjuvant chemotherapy for osteosarcoma and Ewing sarcoma consists of conventional cytotoxic regimens that have changed little over the past decades. There is an urgent need for agents that are more effective and have less long-term toxicity. Receptor tyros ... Full text Link to item Cite

A phase I trial of the CDK 4/6 inhibitor palbociclib in pediatric patients with progressive brain tumors: A Pediatric Brain Tumor Consortium study (PBTC-042).

Journal Article Pediatr Blood Cancer · April 2021 BACKGROUND: Disruption of cell-cycle regulators is a potential therapeutic target for brain tumors in children and adolescents. The aim of this study was to determine the maximum tolerated dose (MTD) and describe toxicities related to palbociclib, a select ... Full text Link to item Cite

Sweet Syndrome in Pediatric Acute Myeloid Leukemia.

Journal Article J Pediatr Hematol Oncol · January 2021 Full text Link to item Cite

Genitourinary manifestations of hereditary cancer predisposition syndromes in children

Journal Article Translational Andrology and Urology · October 1, 2020 Several hereditary cancer predisposition syndromes are associated with genitourinary (GU) manifestations in children. The GU manifestation may be the first symptom of a more global syndrome to arise, which places the pediatric urologist in a unique positio ... Full text Cite

Mutational landscape in genetically engineered, carcinogen-induced, and radiation-induced mouse sarcoma.

Journal Article JCI Insight · July 11, 2019 Cancer development is influenced by hereditary mutations, somatic mutations due to random errors in DNA replication, or external factors. It remains unclear how distinct cell-intrinsic and -extrinsic factors impact oncogenesis within the same tissue type. ... Full text Link to item Cite

Management of recurrent Ewing sarcoma: challenges and approaches.

Journal Article Onco Targets Ther · 2019 Although many patients with newly diagnosed Ewing sarcoma can become long-term survivors, relapse remains an important clinical problem for which there is no standard approach. Several prognostic factors have been identified, and these may help guide patie ... Full text Link to item Cite

Somatic Mosaicism of IDH1 R132H Predisposes to Anaplastic Astrocytoma: A Case of Two Siblings.

Journal Article Front Oncol · 2019 Anaplastic astrocytomas are aggressive glial cancers that present poor prognosis and high recurrence. Heterozygous IDH1 R132H mutations are common in adolescent and young adult anaplastic astrocytomas. In a majority of cases, the IDH1 R132H mutation is uni ... Full text Link to item Cite

Injury promotes sarcoma development in a genetically and temporally restricted manner.

Journal Article JCI Insight · October 18, 2018 Cancer results from the accumulation of genetic mutations in a susceptible cell of origin. We and others have also shown that injury promotes sarcoma development, but how injury cooperates with genetic mutations at the earliest stages of tumor formation is ... Full text Link to item Cite

Generation and comparison of CRISPR-Cas9 and Cre-mediated genetically engineered mouse models of sarcoma.

Journal Article Nat Commun · July 10, 2017 Genetically engineered mouse models that employ site-specific recombinase technology are important tools for cancer research but can be costly and time-consuming. The CRISPR-Cas9 system has been adapted to generate autochthonous tumours in mice, but how th ... Full text Link to item Cite

Bone marrow transplantation for CVID-like humoral immune deficiency associated with red cell aplasia.

Journal Article Pediatr Blood Cancer · October 2016 Patients with common variable immunodeficiency (CVID) have a higher incidence of autoimmune disease, which may mark the disease onset; however, anemia secondary to pure red cell aplasia is an uncommon presenting feature. Here, we describe a case of CVID-li ... Full text Link to item Cite

Acute tissue injury activates satellite cells and promotes sarcoma formation via the HGF/c-MET signaling pathway.

Journal Article Cancer Res · February 1, 2015 Some patients with soft-tissue sarcoma (STS) report a history of injury at the site of their tumor. Although this phenomenon is widely reported, there are relatively few experimental systems that have directly assessed the role of injury in sarcoma formati ... Full text Link to item Cite

Methods to generate genetically engineered mouse models of soft tissue sarcoma.

Journal Article Methods Mol Biol · 2015 We discuss the generation of primary soft tissue sarcomas in mice using the Cre-loxP system to activate conditional mutations in oncogenic Kras and the tumor suppressor p53 (LSL-Kras(G12D/+); p53(flox/flox)). Sarcomas can be generated either by adenoviral ... Full text Link to item Cite

Abstract A64: A role for injury in sarcomagenesis

Conference Cancer Research · October 15, 2014 AbstractWe developed a primary mouse model of embryonal rhabdomyosarcoma and discovered that tissue injury dramatically accelerates sarcoma formation at the site of injury. We were intrigued by this finding ... Full text Cite

MicroRNA-182 drives metastasis of primary sarcomas by targeting multiple genes.

Journal Article J Clin Invest · October 2014 Metastasis causes most cancer deaths, but is incompletely understood. MicroRNAs can regulate metastasis, but it is not known whether a single miRNA can regulate metastasis in primary cancer models in vivo. We compared the expression of miRNAs in metastatic ... Full text Link to item Cite

Distinct and overlapping sarcoma subtypes initiated from muscle stem and progenitor cells.

Journal Article Cell Rep · November 27, 2013 Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children, whereas undifferentiated pleomorphic sarcoma (UPS) is one of the most common soft tissue sarcomas diagnosed in adults. To investigate the myogenic cell(s) of origin of these sarcoma ... Full text Link to item Cite

Trilateral retinoblastoma in a patient with Peutz-Jeghers syndrome.

Journal Article Am J Med Genet A · May 2013 Germline loss of function mutations in tumor suppressor genes RB1 and LKB1/STK11 are associated with the autosomal dominant cancer predisposing syndromes familial retinoblastoma and Peutz-Jeghers syndrome (PJS), respectively. We present a rare case of a yo ... Full text Link to item Cite

Neuroblastoma in a pediatric patient with a microduplication of 2p involving the MYCN locus.

Journal Article Am J Med Genet A · March 2013 Neuroblastoma is the most common solid tumor of infancy, and mutations in several genes have been implicated as playing a role in tumor development. Here, we describe a pediatric patient with a constitutional microduplication of 2p24.3 who developed Stage ... Full text Link to item Cite

MLL duplication in a pediatric patient with B-cell lymphoblastic lymphoma.

Journal Article J Pediatr Hematol Oncol · April 2012 Lymphoblastic lymphoma is the second most common type of non-Hodgkin lymphoma seen in children. Approximately, 90% of lymphoblastic lymphomas arise from T cells, with the remaining 10% being B-cell-lineage derived. Although T-cell lymphoblastic lymphoma mo ... Full text Link to item Cite

Pyogenic variant of primary cutaneous anaplastic large-cell lymphoma: a lymphoproliferative disorder with a predilection for the immunocompromized and the young.

Journal Article Am J Dermatopathol · December 2010 Cutaneous anaplastic large-cell lymphoma belongs to the class of primary cutaneous CD30-positive lymphoproliferative disorders. The pyogenic variant is marked by a neutrophil rich inflammatory background. We describe 2 cases (one which clinically presented ... Full text Link to item Cite

Transient activation of beta -catenin signaling in cutaneous keratinocytes is sufficient to trigger the active growth phase of the hair cycle in mice.

Journal Article Genes Dev · May 15, 2003 Wnts have key roles in many developmental processes, including hair follicle growth and differentiation. Stabilization of beta-catenin is essential in the canonical Wnt signaling pathway. We developed transgenic mice expressing a regulated form of beta-cat ... Full text Link to item Cite

ITF-2, a downstream target of the Wnt/TCF pathway, is activated in human cancers with beta-catenin defects and promotes neoplastic transformation.

Journal Article Cancer Cell · March 2002 In many cancers, inactivation of the adenomatous polyposis coli (APC) or Axin tumor suppressor proteins or activating mutations in beta-catenin lead to elevated beta-catenin levels, enhanced binding of beta-catenin to T cell factor (TCF) proteins, and incr ... Full text Link to item Cite

Growth hormone regulates phosphorylation and function of CCAAT/enhancer-binding protein beta by modulating Akt and glycogen synthase kinase-3.

Journal Article J Biol Chem · June 1, 2001 Growth hormone (GH) regulates transcription factors associated with c-fos, including C/EBPbeta. Two forms of C/EBPbeta, liver-activating protein (LAP) and liver inhibitory protein (LIP), are dephosphorylated in GH-treated 3T3-F442A fibroblasts. GH-induced ... Full text Link to item Cite

Identification of the yeast cytidine deaminase CDD1 as an orphan C-->U RNA editase.

Journal Article Nucleic Acids Res · April 15, 2001 Yeast co-expressing rat APOBEC-1 and a fragment of human apolipoprotein B (apoB) mRNA assembled functional editosomes and deaminated C6666 to U in a mooring sequence-dependent fashion. The occurrence of APOBEC-1-complementing proteins suggested a naturally ... Full text Link to item Cite

Disproportionate relationship between APOBEC-1 expression and apolipoprotein B mRNA editing activity.

Journal Article Exp Cell Res · October 10, 1999 Apolipoprotein B (apoB) mRNA editing is a site-specific (nucleotide 6666) cytidine to uridine transition catalyzed by a cytidine deaminase, APOBEC-1, in the context of a multiprotein complex referred to as the C/U editosome. This report quantifies for the ... Full text Link to item Cite

Ethanol increases apolipoprotein B mRNA editing in rat primary hepatocytes and McArdle cells.

Journal Article Biochem Biophys Res Commun · November 18, 1998 Apolipoprotein B (apoB) mRNA editing involves a site-specific cytidine to uridine transition catalyzed by the cytidine deaminase, APOBEC-1, in the context of and regulated by a multi-protein-containing editosome. ApoB mRNA editing in vivo is subject to tis ... Full text Link to item Cite