David Van Mater

Overview:

I am a pediatric oncologist with a specific interest in hereditary cancer syndromes and sarcoma. I also director of the Duke Comprehensive Neurofibromatosis Clinic where I see children and adults with neurofibromatosis type I and II, in addition to schwannomatosis. 

Positions:

Assistant Professor of Pediatrics

Pediatrics, Hematology-Oncology
School of Medicine

Member of the Duke Cancer Institute

Duke Cancer Institute
School of Medicine

Education:

MD./PhD. 2006

University of Michigan, Ann Arbor

Pediatrics Internship and Residency, Pediatrics

University of Michigan, Ann Arbor

Pediatric Hematology/Oncology Fellowship, Pediatrics

Duke University School of Medicine

Grants:

Dissecting the role of injury is sarcoma formation

Administered By
Pediatrics, Hematology-Oncology
Awarded By
Sarcoma Alliance for Research Through Collaboration
Role
Principal Investigator
Start Date
End Date

Dissecting the role of injury is sarcoma formation

Administered By
Pediatrics, Hematology-Oncology
Awarded By
Sarcoma Alliance for Research Through Collaboration
Role
Principal Investigator
Start Date
End Date

Phase I study of PD-0332991 for pediatric patiens with retinoblastoma protein (RB)-positive recurrent or refractory central nervous system (CNS) tumors.

Administered By
Pediatrics, Hematology-Oncology
Awarded By
Pfizer, Inc.
Role
Principal Investigator
Start Date
End Date

MAIN STUDY: Developing Evidence-Based Crieteria for Initiating Treatment fo NF1-OPG.

Administered By
Pediatrics, Hematology-Oncology
Awarded By
Children's Tumor Foundation
Role
Principal Investigator
Start Date
End Date

Visual Field Outcomes in Pediatric Patients with NF1-associated Optic Pathway Gliomas

Administered By
Pediatrics, Hematology-Oncology
Awarded By
Boston Children's Hospital
Role
Principal Investigator
Start Date
End Date

Publications:

Sweet Syndrome in Pediatric Acute Myeloid Leukemia.

Authors
Keskinyan, VS; Noyd, DH; Underwood, CM; Van Mater, D
MLA Citation
Keskinyan, Vahakn S., et al. “Sweet Syndrome in Pediatric Acute Myeloid Leukemia.J Pediatr Hematol Oncol, vol. 43, no. 1, Jan. 2021, pp. 31–32. Pubmed, doi:10.1097/MPH.0000000000001900.
URI
https://scholars.duke.edu/individual/pub1462119
PMID
32925399
Source
pubmed
Published In
Journal of Pediatric Hematology/Oncology
Volume
43
Published Date
Start Page
31
End Page
32
DOI
10.1097/MPH.0000000000001900

Genitourinary manifestations of hereditary cancer predisposition syndromes in children

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 position to impact the health of the child. Some GU manifestations are pathognomonic for a particular hereditary cancer predisposition syndrome, which can prompt genetic testing and enhanced surveillance for other features of the condition. In other cases, knowledge of an underlying hereditary cancer predisposition syndrome alters treatment decisions. This review focuses on hereditary cancer predisposition syndromes that impact the GU tract and are likely to be seen by a pediatric urologist.
Authors
Gillespie, NJ; van Mater, D
MLA Citation
Gillespie, N. J., and D. van Mater. “Genitourinary manifestations of hereditary cancer predisposition syndromes in children.” Translational Andrology and Urology, vol. 9, no. 5, Oct. 2020, pp. 2331–47. Scopus, doi:10.21037/tau-2019-pum-09.
URI
https://scholars.duke.edu/individual/pub1465208
Source
scopus
Published In
Translational Andrology and Urology
Volume
9
Published Date
Start Page
2331
End Page
2347
DOI
10.21037/tau-2019-pum-09

Combination therapy with sorafenib and celecoxib for pediatric patients with desmoid tumor.

Authors
Robles, J; Keskinyan, VS; Thompson, M; Davis, JT; Mater, DV
MLA Citation
Robles, Joanna, et al. “Combination therapy with sorafenib and celecoxib for pediatric patients with desmoid tumor.Pediatr Hematol Oncol, vol. 37, no. 5, Aug. 2020, pp. 445–49. Pubmed, doi:10.1080/08880018.2020.1735591.
URI
https://scholars.duke.edu/individual/pub1434261
PMID
32129687
Source
pubmed
Published In
Pediatr Hematol Oncol
Volume
37
Published Date
Start Page
445
End Page
449
DOI
10.1080/08880018.2020.1735591

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

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 unique to the tumor, although rare cases of anaplastic astrocytoma have been described in patients with mosaic IDH1 mutations (Ollier disease or Maffucci syndrome). Here, we present two siblings with IDH1 R132H mutant high grade astrocytomas diagnosed at 14 and 26 years of age. Analysis of IDHR132H mutations in the siblings' tumors and non-neoplastic tissues, including healthy regions of the brain, cheek cells, and primary teeth indicate mosaicism of IDHR132H. Whole exome sequencing of the tumor tissue did not reveal any other common mutations between the two siblings. This study demonstrates the first example of IDH1 R132H mosaicism, acquired during early development, that provides an alternative mechanism of cancer predisposition.
Authors
Lee, S; Kambhampati, M; Almira-Suarez, MI; Ho, C-Y; Panditharatna, E; Berger, SI; Turner, J; Van Mater, D; Kilburn, L; Packer, RJ; Myseros, JS; Vilain, E; Nazarian, J; Bornhorst, M
MLA Citation
Lee, Sulgi, et al. “Somatic Mosaicism of IDH1 R132H Predisposes to Anaplastic Astrocytoma: A Case of Two Siblings.Front Oncol, vol. 9, 2019, p. 1507. Pubmed, doi:10.3389/fonc.2019.01507.
URI
https://scholars.duke.edu/individual/pub1432118
PMID
32010615
Source
pubmed
Published In
Frontiers in Oncology
Volume
9
Published Date
Start Page
1507
DOI
10.3389/fonc.2019.01507

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

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 4 neuroblastoma at age 11 months. He represents the sixth patient described in the literature with partial trisomy 2p and neuroblastoma. All previous cases had duplication events spanning two genes implicated in neuroblastoma, MYCN and ALK. Our patient is unique because his duplicated region includes the MYCN gene only; the ALK gene is unaffected. These data, combined with the relatively high incidence of neuroblastoma reported in partial trisomy 2p patients, support the notion that MYCN duplication should be added to the growing list of genetic factors associated with an increased risk of neuroblastoma. The mechanism of increased risk is unclear, but the fact that our patient had dramatic amplification of MYCN in his tumor suggests that a germline duplication might predispose to further amplification. Additionally, our patient has several morphologic features common to patients with partial trisomy 2p including high forehead, hypertelorism, postaxial polydactyly, and developmental delay despite having a microduplication spanning approximately 1 Mb and including just three intact genes. This case may therefore help further delineate the genotype-phenotype correlations associated with partial trisomy 2p.
Authors
Van Mater, D; Knelson, EH; Kaiser-Rogers, KA; Armstrong, MB
MLA Citation
Van Mater, David, et al. “Neuroblastoma in a pediatric patient with a microduplication of 2p involving the MYCN locus.Am J Med Genet A, vol. 161A, no. 3, Mar. 2013, pp. 605–10. Pubmed, doi:10.1002/ajmg.a.35766.
URI
https://scholars.duke.edu/individual/pub932533
PMID
23401364
Source
pubmed
Published In
Am J Med Genet A
Volume
161A
Published Date
Start Page
605
End Page
610
DOI
10.1002/ajmg.a.35766

Research Areas:

Neurofibromatosis
Neurofibromatosis 1
Neurofibromatosis 2
Neurofibromatosis in children
Oncology
Sarcoma
Tumors in children