Genomic analysis reveals germline and somatic PDGFRB variants with clinical implications in familial infantile myofibromatosis

Pediatric Blood & CancerVolume 70, Issue 6 e30262 LETTER TO THE EDITOR Genomic analysis reveals germline and somatic PDGFRB variants with clinical implications in familial infantile myofibromatosis Kelly K. Barry, Kelly K. Barry orcid.org/0000-0003-0382-4470 Dermatology Section, Division of Immunology, Boston Children's Hospital, Boston, Massachusetts, USA Harvard Medical School, Boston, Massachusetts, USASearch for more papers by this authorJaclyn Schienda, Jaclyn Schienda Harvard Medical School, Boston, Massachusetts, USA Division of Hematology/Oncology, Boston Children's Hospital, Boston, Massachusetts, USA Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USASearch for more papers by this authorJames J. Morrow, James J. Morrow Harvard Medical School, Boston, Massachusetts, USA Division of Hematology/Oncology, Boston Children's Hospital, Boston, Massachusetts, USA Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USASearch for more papers by this authorAlyaa Al-Ibraheemi, Alyaa Al-Ibraheemi Harvard Medical School, Boston, Massachusetts, USA Department of Pathology, Boston Children's Hospital, Boston, Massachusetts, USASearch for more papers by this authorDaniel M. Balkin, Daniel M. Balkin Harvard Medical School, Boston, Massachusetts, USA Department of Plastic & Oral Surgery, Boston Children's Hospital, Boston, Massachusetts, USASearch for more papers by this authorAlanna J. Church, Alanna J. Church Harvard Medical School, Boston, Massachusetts, USA Department of Pathology, Boston Children's Hospital, Boston, Massachusetts, USASearch for more papers by this authorWhitney Eng, Whitney Eng Harvard Medical School, Boston, Massachusetts, USA Division of Hematology/Oncology, Boston Children's Hospital, Boston, Massachusetts, USA Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USASearch for more papers by this authorKatherine A. Janeway, Katherine A. Janeway orcid.org/0000-0001-6000-3594 Harvard Medical School, Boston, Massachusetts, USA Division of Hematology/Oncology, Boston Children's Hospital, Boston, Massachusetts, USA Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USASearch for more papers by this authorJunne Kamihara, Junne Kamihara Harvard Medical School, Boston, Massachusetts, USA Division of Hematology/Oncology, Boston Children's Hospital, Boston, Massachusetts, USA Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USASearch for more papers by this authorMarilyn G. Liang, Corresponding Author Marilyn G. Liang [email protected] Dermatology Section, Division of Immunology, Boston Children's Hospital, Boston, Massachusetts, USA Harvard Medical School, Boston, Massachusetts, USA Correspondence Marilyn G. Liang, Boston Children's Hospital, 300 Longwood Ave, Boston, MA 02115, USA. Email: [email protected]Search for more papers by this author Kelly K. Barry, Kelly K. Barry orcid.org/0000-0003-0382-4470 Dermatology Section, Division of Immunology, Boston Children's Hospital, Boston, Massachusetts, USA Harvard Medical School, Boston, Massachusetts, USASearch for more papers by this authorJaclyn Schienda, Jaclyn Schienda Harvard Medical School, Boston, Massachusetts, USA Division of Hematology/Oncology, Boston Children's Hospital, Boston, Massachusetts, USA Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USASearch for more papers by this authorJames J. Morrow, James J. Morrow Harvard Medical School, Boston, Massachusetts, USA Division of Hematology/Oncology, Boston Children's Hospital, Boston, Massachusetts, USA Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USASearch for more papers by this authorAlyaa Al-Ibraheemi, Alyaa Al-Ibraheemi Harvard Medical School, Boston, Massachusetts, USA Department of Pathology, Boston Children's Hospital, Boston, Massachusetts, USASearch for more papers by this authorDaniel M. Balkin, Daniel M. Balkin Harvard Medical School, Boston, Massachusetts, USA Department of Plastic & Oral Surgery, Boston Children's Hospital, Boston, Massachusetts, USASearch for more papers by this authorAlanna J. Church, Alanna J. Church Harvard Medical School, Boston, Massachusetts, USA Department of Pathology, Boston Children's Hospital, Boston, Massachusetts, USASearch for more papers by this authorWhitney Eng, Whitney Eng Harvard Medical School, Boston, Massachusetts, USA Division of Hematology/Oncology, Boston Children's Hospital, Boston, Massachusetts, USA Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USASearch for more papers by this authorKatherine A. Janeway, Katherine A. Janeway orcid.org/0000-0001-6000-3594 Harvard Medical School, Boston, Massachusetts, USA Division of Hematology/Oncology, Boston Children's Hospital, Boston, Massachusetts, USA Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USASearch for more papers by this authorJunne Kamihara, Junne Kamihara Harvard Medical School, Boston, Massachusetts, USA Division of Hematology/Oncology, Boston Children's Hospital, Boston, Massachusetts, USA Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USASearch for more papers by this authorMarilyn G. Liang, Corresponding Author Marilyn G. Liang [email protected] Dermatology Section, Division of Immunology, Boston Children's Hospital, Boston, Massachusetts, USA Harvard Medical School, Boston, Massachusetts, USA Correspondence Marilyn G. Liang, Boston Children's Hospital, 300 Longwood Ave, Boston, MA 02115, USA. Email: [email protected]Search for more papers by this author First published: 02 March 2023 https://doi.org/10.1002/pbc.30262Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL No abstract is available for this article. REFERENCES 1Sbaraglia M, Bellan E, Dei Tos AP. The 2020 WHO classification of soft tissue tumours: news and perspectives. Pathologica. 2021; 113(2): 70- 84. 2Coffin CM, Alaggio R. Fibroblastic and myofibroblastic tumors in children and adolescents. Pediatr Dev Pathol. 2012; 15(1): 127- 180. 3Garcia EP, Minkovsky A, Jia Y, et al. 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Pediatr Blood Cancer. 2022; 69(3):e29403. 13Dachy G, de Krijger RR, Fraitag S, et al. Association of PDGFRB mutations with pediatric myofibroma and myofibromatosis. JAMA Dermatol. 2019; 155(8): 946- 950. 14Bidadi B, Watson A, Weigel B, Oliveira A, Kirkham J, Arndt C. Treatment of generalized infantile myofibromatosis with sorafenib and imatinib: a case report. Pediatr Blood Cancer. 2020; 67(6):e28288. 15Mudry P, Slaby O, Neradil J, et al. Case report: rapid and durable response to PDGFR targeted therapy in a child with refractory multiple infantile myofibromatosis and a heterozygous germline mutation of the PDGFRB gene. BMC Cancer. 2017; 17(1): 119. Volume70, Issue6June 2023e30262 ReferencesRelatedInformation