Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemia

Samara L. Potter; Rajkumar Venkatramani; Scott Wenderfer; Brett H. Graham; Sanjeev A. Vasudevan; Andrew Sher; Hao Wu; David A. Wheeler; Yaping Yang; Christine M. Eng; Richard A. Gibbs; Angshumoy Roy; Sharon E. Plon; D. Williams Parsons

doi:10.1002/pbc.26286

Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemia

Samara L. Potter, Rajkumar Venkatramani, Scott Wenderfer, Brett H. Graham, Sanjeev A. Vasudevan, Andrew Sher, Hao Wu, David A. Wheeler, Yaping Yang, Christine M. Eng, Richard A. Gibbs, Angshumoy Roy, Sharon E. Plon, D. Williams Parsons

Research output: Contribution to journal › Article › peer-review

5 Scopus citations

Abstract

Pediatric renal cell carcinoma (RCC) is a rare cancer that can be associated with inherited diseases including tuberous sclerosis complex (TSC) caused by germline mutations in TSC1 or TSC2. Somatic mutations in TSC1 and TSC2 have also been reported in adult RCC, which predict response to mTOR inhibitors. Here, we present the first case of RCC in a child with methylmalonic acidemia (MMA). Clinical whole exome sequencing of blood and tumor samples confirmed the diagnosis of MMA and revealed two somatic inactivating mutations in TSC2, suggesting the potential consideration of an mTOR inhibitor in the event of tumor recurrence.

Original language	English (US)
Article number	e26286
Journal	Pediatric Blood and Cancer
Volume	64
Issue number	5
DOIs	https://doi.org/10.1002/pbc.26286
State	Published - May 1 2017
Externally published	Yes

Keywords

TSC2
methylmalonic acidemia
renal cell carcinoma

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Hematology
Oncology

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Potter, S. L., Venkatramani, R., Wenderfer, S., Graham, B. H., Vasudevan, S. A., Sher, A., Wu, H., Wheeler, D. A., Yang, Y., Eng, C. M., Gibbs, R. A., Roy, A., Plon, S. E., & Parsons, D. W. (2017). Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemia. Pediatric Blood and Cancer, 64(5), Article e26286. https://doi.org/10.1002/pbc.26286

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title = "Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemia",

abstract = "Pediatric renal cell carcinoma (RCC) is a rare cancer that can be associated with inherited diseases including tuberous sclerosis complex (TSC) caused by germline mutations in TSC1 or TSC2. Somatic mutations in TSC1 and TSC2 have also been reported in adult RCC, which predict response to mTOR inhibitors. Here, we present the first case of RCC in a child with methylmalonic acidemia (MMA). Clinical whole exome sequencing of blood and tumor samples confirmed the diagnosis of MMA and revealed two somatic inactivating mutations in TSC2, suggesting the potential consideration of an mTOR inhibitor in the event of tumor recurrence.",

keywords = "TSC2, methylmalonic acidemia, renal cell carcinoma",

author = "Potter, {Samara L.} and Rajkumar Venkatramani and Scott Wenderfer and Graham, {Brett H.} and Vasudevan, {Sanjeev A.} and Andrew Sher and Hao Wu and Wheeler, {David A.} and Yaping Yang and Eng, {Christine M.} and Gibbs, {Richard A.} and Angshumoy Roy and Plon, {Sharon E.} and Parsons, {D. Williams}",

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year = "2017",

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doi = "10.1002/pbc.26286",

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AU - Potter, Samara L.

AU - Venkatramani, Rajkumar

AU - Wenderfer, Scott

AU - Graham, Brett H.

AU - Vasudevan, Sanjeev A.

AU - Sher, Andrew

AU - Wu, Hao

AU - Wheeler, David A.

AU - Yang, Yaping

AU - Eng, Christine M.

AU - Gibbs, Richard A.

AU - Roy, Angshumoy

AU - Plon, Sharon E.

AU - Parsons, D. Williams

PY - 2017/5/1

Y1 - 2017/5/1

N2 - Pediatric renal cell carcinoma (RCC) is a rare cancer that can be associated with inherited diseases including tuberous sclerosis complex (TSC) caused by germline mutations in TSC1 or TSC2. Somatic mutations in TSC1 and TSC2 have also been reported in adult RCC, which predict response to mTOR inhibitors. Here, we present the first case of RCC in a child with methylmalonic acidemia (MMA). Clinical whole exome sequencing of blood and tumor samples confirmed the diagnosis of MMA and revealed two somatic inactivating mutations in TSC2, suggesting the potential consideration of an mTOR inhibitor in the event of tumor recurrence.

AB - Pediatric renal cell carcinoma (RCC) is a rare cancer that can be associated with inherited diseases including tuberous sclerosis complex (TSC) caused by germline mutations in TSC1 or TSC2. Somatic mutations in TSC1 and TSC2 have also been reported in adult RCC, which predict response to mTOR inhibitors. Here, we present the first case of RCC in a child with methylmalonic acidemia (MMA). Clinical whole exome sequencing of blood and tumor samples confirmed the diagnosis of MMA and revealed two somatic inactivating mutations in TSC2, suggesting the potential consideration of an mTOR inhibitor in the event of tumor recurrence.

KW - TSC2

KW - methylmalonic acidemia

KW - renal cell carcinoma

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JO - Pediatric Blood and Cancer

JF - Pediatric Blood and Cancer

IS - 5

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Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemia

Abstract

Keywords

ASJC Scopus subject areas

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