title: Molecular monitoring of 8p11 myeloproliferative syndrome in an infant.
abstract: The 8p11 myeloproliferative syndrome is a rare hematologic malignancy derived from a pluripotent hematopoietic stem cell associated with rearrangements involving the fibroblast growth factor receptor 1 (FGFR1) gene located on chromosome 8p11. The most common translocation, t(8;13) (p11;q13), results in a ZNF198-FGFR1 fusion gene and constitutively active FGFR1 tyrosine kinase activity. Typical pathologic findings include myeloid hyperplasia, lymphadenopathy, precursor T-lymphoblastic lymphoma, and eosinophilia. The disease is usually associated with an aggressive course and progression to acute myeloid leukemia is frequent. We report here the first case of 8p11 myeloproliferative syndrome in an infant and demonstrate the value of molecular testing in the diagnosis and minimal disease monitoring of this rare disease.
authors.affiliation: Department of Pathology, Texas Children's Hospital, Baylor College of Medicine, Houston, TX 77030, USA.
authors.forename: Wenyong W
authors.initials: WW
authors.lastname: Zhang
authors.forename: Sultan
authors.initials: S
authors.lastname: Habeebu
authors.forename: Andrea M
authors.initials: AM
authors.lastname: Sheehan
authors.forename: Rizwan
authors.initials: R
authors.lastname: Naeem
authors.forename: Vivian S
authors.initials: VS
authors.lastname: Hernandez
authors.forename: Zoann E
authors.initials: ZE
authors.lastname: Dreyer
authors.forename: Dolores
authors.initials: D
authors.lastname: López-Terrada
mesh_terms: D000971:Antineoplastic Combined Chemotherapy Protocols / Q000008:administration & dosage; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006412:Hematopoietic Stem Cells / Q000378:metabolism / Q000473:pathology; D006801:Humans; D007223:Infant; D009196:Myeloproliferative Disorders / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D018365:Neoplasm, Residual; D014411:Neoplastic Stem Cells / Q000378:metabolism / Q000473:pathology; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D051496:Receptor, Fibroblast Growth Factor, Type 1 / Q000235:genetics*; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D004268:DNA-Binding Proteins; D015514:Oncogene Proteins, Fusion; D014157:Transcription Factors; C111777:ZMYM2 protein, human; C496348:FGFR1 protein, human; D051496:Receptor, Fibroblast Growth Factor, Type 1