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 at Ann Arbor

Pediatrics Internship and Residency, Pediatrics

University of Michigan at 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
Role
Principal Investigator
Start Date
End Date

Dissecting the role of injury is sarcoma formation

Administered By
Pediatrics, Hematology-Oncology
Role
Principal Investigator
Start Date
End Date

PBTC-042 (Phase 1 of PD-0332991)

Administered By
Pediatrics, Hematology-Oncology
Role
Principal Investigator
Start Date
End Date

NF1-OPG

Administered By
Pediatrics, Hematology-Oncology
Role
Principal Investigator
Start Date
End Date

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

Administered By
Pediatrics, Hematology-Oncology
Role
Principal Investigator
Start Date
End Date

Publications:

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

Trilateral retinoblastoma in a patient with Peutz-Jeghers syndrome.

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 young woman with trilateral retinoblastoma diagnosed as an infant who survived and was then diagnosed with PJS as a teenager. There was no family history of either disorder. Analysis of the LKB1/STK11 gene sequence identified a germline frameshift mutation (c.107del) leading to a nonsense mutation near the N-terminus of the protein, confirming a clinical diagnosis of Peutz-Jeghers syndrome. Extensive RB1 gene analysis failed to detect germline mutations or deletions, and immunohistochemical analysis of her ocular tumors demonstrated nuclear staining of immunoreactive pRB. This result suggests that the RB1 gene is intact. We estimate the chance of trilateral retinoblastoma and PJS occurring in the same individual at approximately 1 in 134 billion live births, and we discuss the possibility that this case could be explained by a putative modifier of pRB action that is associated with the LKB1/STK11 pathway.
Authors
Raizis, AM; Van Mater, D; Aaltonen, LA; Lohmann, D; Cheale, MS; Bickley, VM; George, PM; Zhou, Y; Rosoff, PM
MLA Citation
Raizis, Anthony M., et al. “Trilateral retinoblastoma in a patient with Peutz-Jeghers syndrome.Am J Med Genet A, vol. 161A, no. 5, May 2013, pp. 1096–100. Pubmed, doi:10.1002/ajmg.a.35748.
URI
https://scholars.duke.edu/individual/pub933188
PMID
23463749
Source
pubmed
Published In
Am J Med Genet A
Volume
161A
Published Date
Start Page
1096
End Page
1100
DOI
10.1002/ajmg.a.35748

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

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

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 most frequently occurs in the anterior mediastinum (thymus), B-cell lymphoblastic lymphoma (B-LBL) predominates in extranodal sites such as skin and bone. Here, we describe a pediatric B-LBL patient who presented with extensive abdominal involvement and whose lymphoma cells displayed segmental duplication of the mixed lineage leukemia (MLL) gene. MLL duplication/amplification has been described primarily in acute myeloid leukemia and myelodysplastic syndrome with no published reports of discrete MLL duplication/amplification events in B-LBL. The MLL gene duplication noted in this case may represent a novel mechanism for tumorigenesis in B-LBL.
Authors
Mater, DV; Goodman, BK; Wang, E; Gaca, AM; Wechsler, DS
MLA Citation
Mater, David Van, et al. “MLL duplication in a pediatric patient with B-cell lymphoblastic lymphoma.J Pediatr Hematol Oncol, vol. 34, no. 3, Apr. 2012, pp. e120–23. Pubmed, doi:10.1097/MPH.0b013e3182273b57.
URI
https://scholars.duke.edu/individual/pub772319
PMID
22052166
Source
pubmed
Published In
Journal of Pediatric Hematology/Oncology
Volume
34
Published Date
Start Page
e120
End Page
e123
DOI
10.1097/MPH.0b013e3182273b57

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

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 as cellulitis, and another arising in a patient with Hodgkin lymphoma) and review the clinicopathologic features of cases reported in the literature. In all cases, the male to female ratio is 1.2:1. The average age at presentation for patients with this variant is 47 years old with 15% of patients being 25 years old or younger. Thirteen percent of patients are immunocompromized. Ten percent of patients experience extracutaneous disease progression and 18% of patients are dead at 10 months. Immunophenotypically, the anaplastic large cells demonstrate loss of pan-T cell antigens, CD2, CD3, CD5, and CD7, with 65% of cases expressing CD4 and 29% of cases expressing CD8. Epithelial membrane antigen expression is reported in over half of the cases. In the clinical context of a progressive ulcerating lesion in younger or immunocompromized patients, it is important for the pathologist when presented with a skin specimen demonstrating a neutrophil-rich inflammatory background to include the pyogenic variant of anaplastic large-cell lymphoma. We hope to increase awareness of this rare CD30-positive lymphoproliferative disorder subtype by better defining the clinical spectrum in which this entity can present.
Authors
Papalas, JA; Van Mater, D; Wang, E
MLA Citation
Papalas, John A., et al. “Pyogenic variant of primary cutaneous anaplastic large-cell lymphoma: a lymphoproliferative disorder with a predilection for the immunocompromized and the young.Am J Dermatopathol, vol. 32, no. 8, Dec. 2010, pp. 821–27. Pubmed, doi:10.1097/DAD.0b013e3181d81dc3.
URI
https://scholars.duke.edu/individual/pub804841
PMID
20881832
Source
pubmed
Published In
The American Journal of Dermatopathology
Volume
32
Published Date
Start Page
821
End Page
827
DOI
10.1097/DAD.0b013e3181d81dc3

Research Areas:

Neurofibromatosis
Neurofibromatosis 1
Neurofibromatosis 2
Neurofibromatosis in children
Sarcoma