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Azacitidine and Sorafenib Therapy in a Pediatric Patient With Refractory Acute Myeloid Leukemia With Monosomy 7 and Somatic PTPN11 Mutation
Author(s) -
Dahl Nathan A.,
Michaels Samantha T.,
McMasters Richard L.,
Chandra Sharat,
O'Brien Maureen M.
Publication year - 2016
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.25805
Subject(s) - ptpn11 , azacitidine , medicine , monosomy , sorafenib , myeloid leukemia , cancer research , oncology , juvenile myelomonocytic leukemia , chromosome 7 (human) , stem cell , haematopoiesis , kras , biology , karyotype , genetics , dna methylation , chromosome , cancer , gene expression , colorectal cancer , hepatocellular carcinoma , gene
Monosomy 7 is a well‐documented cytogenetic aberration in pediatric acute myeloid leukemia (AML) and may occur in combinations with molecular abnormalities including PTPN11 mutation. PTPN11 mutations contribute to leukemogenesis through upregulation of Ras pathway signaling. We present the case of a 3‐year‐old female with AML with monosomy 7 and somatic PTPN11 mutation who was refractory to conventional AML chemotherapy but responded to a novel regimen of azacitidine and sorafenib followed by stem cell transplantation. Combination therapy with azacitidine and sorafenib may be an effective therapeutic strategy for patients with AML with Ras pathway abnormalities.