Papillary Hemangioma Harbors Somatic GNA11 and GNAQ Mutations.

Autor: Gestrich CK; Departments of Pathology., Vivero MP; Plastic & Oral Surgery, Boston Children's Hospital., Konczyk DJ; Plastic & Oral Surgery, Boston Children's Hospital., Goss JA; Plastic & Oral Surgery, Boston Children's Hospital., Labow BI; Plastic & Oral Surgery, Boston Children's Hospital., Pearson GD; Departments of Plastic Surgery., Cottrell CE; Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH., Mathew MT; Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH., Prasad V; Pathology., Kozakewich HP; Departments of Pathology., Fletcher CDM; Department of Pathology, Brigham and Women's Hospital, Boston, MA., Greene AK; Plastic & Oral Surgery, Boston Children's Hospital., Al-Ibraheemi A; Departments of Pathology.

Publikováno v: The American journal of surgical pathology [Am J Surg Pathol] 2024 Jan 01; Vol. 48 (1), pp. 106-111. Date of Electronic Publication: 2023 Sep 26.

Endothelial cell expression of mutant Map2k1 causes vascular malformations in mice.

Autor: Smits PJ; Department of Plastic & Oral Surgery, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA. patrick.smits@childrens.harvard.edu., Sudduth CL; Department of Plastic & Oral Surgery, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA., Konczyk DJ; Department of Plastic & Oral Surgery, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA., Cheng YS; Department of Plastic & Oral Surgery, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA., Vivero MP; Department of Plastic & Oral Surgery, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA., Kozakewich HPW; Department of Pathology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA., Warman ML; Department of Orthopaedic Surgery, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.; Department of Genetics, Harvard Medical School, 77 Ave Louis Pasteur, Boston, MA, 02115, USA., Greene AK; Department of Plastic & Oral Surgery, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.

Publikováno v: Angiogenesis [Angiogenesis] 2023 Feb; Vol. 26 (1), pp. 97-105. Date of Electronic Publication: 2022 Aug 16.

Parkes Weber syndrome with lymphedema caused by a somatic KRAS variant.

Autor: Eng W; Division of Hematology and Oncology, Department of Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA., Sudduth CL; Department of Plastic and Oral Surgery, Department of Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA., Konczyk DJ; Department of Plastic and Oral Surgery, Department of Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA., Smits PJ; Department of Plastic and Oral Surgery, Department of Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA., Taghinia AH; Department of Plastic and Oral Surgery, Department of Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA., Fishman SJ; Department of Surgery, Department of Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA., Alomari A; Department of Radiology, Department of Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA., Adams DM; Division of Hematology and Oncology, Department of Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA., Greene AK; Department of Plastic and Oral Surgery, Department of Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.

Publikováno v: Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2021 Dec 09; Vol. 7 (6). Date of Electronic Publication: 2021 Dec 09 (Print Publication: 2021).

Lipoblastoma phenotype contains a somatic PIK3CA mutation.

Autor: Sudduth CL; Department of Plastic and Oral Surgery, Harvard Medical School, Boston Children's Hospital, Boston, MA, USA., Konczyk DJ; Department of Plastic and Oral Surgery, Harvard Medical School, Boston Children's Hospital, Boston, MA, USA., Al-Ibraheemi A; Department of Pathology, Harvard Medical School, Boston Children's Hospital, Boston, MA, USA., Smits PJ; Department of Plastic and Oral Surgery, Harvard Medical School, Boston Children's Hospital, Boston, MA, USA., Greene AK; Department of Plastic and Oral Surgery, Harvard Medical School, Boston Children's Hospital, Boston, MA, USA.

Publikováno v: Pediatric dermatology [Pediatr Dermatol] 2021 Jan; Vol. 38 (1), pp. 299-300. Date of Electronic Publication: 2020 Oct 09.

Endothelial MAP2K1 mutations in arteriovenous malformation activate the RAS/MAPK pathway.

Autor: Smits PJ; Department of Plastic & Oral Surgery, Boston Children's Hospital, Harvard Medical School, USA., Konczyk DJ; Department of Plastic & Oral Surgery, Boston Children's Hospital, Harvard Medical School, USA., Sudduth CL; Department of Plastic & Oral Surgery, Boston Children's Hospital, Harvard Medical School, USA., Goss JA; Department of Plastic & Oral Surgery, Boston Children's Hospital, Harvard Medical School, USA., Greene AK; Department of Plastic & Oral Surgery, Boston Children's Hospital, Harvard Medical School, USA. Electronic address: arin.greene@childrens.harvard.edu.

Publikováno v: Biochemical and biophysical research communications [Biochem Biophys Res Commun] 2020 Aug 20; Vol. 529 (2), pp. 450-454. Date of Electronic Publication: 2020 Jul 01.