title: Transient juvenile myelomonocytic leukemia in the setting of PTPN11 mutation and Noonan syndrome with secondary development of monosomy 7.
abstract: Juvenile myelomonocytic leukemia (JMML) is a rare childhood neoplasm with poor prognosis except in the setting of Noonan syndrome, where prognosis is generally favorable. We present the case of a child with JMML in the setting of germline PTPN11 mutation and Noonan syndrome with suspected secondary development of monosomy 7 in the bone marrow. Diagnosed shortly after birth, she has been managed with active surveillance alone. Myeloblast percentages initially fluctuated; however, bone marrow biopsy at 4 years of age showed spontaneous remission despite persistence of the monosomy 7 clone, supporting a cautious approach in similar cases.
authors.affiliation: Department of Pediatrics Residency Program, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania.
authors.forename: Katrina
authors.initials: K
authors.lastname: O'Halloran
authors.affiliation: Division of Hematology/Oncology, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania.
authors.forename: A Kim
authors.initials: AK
authors.lastname: Ritchey
authors.affiliation: Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania.
authors.forename: Miroslav
authors.initials: M
authors.lastname: Djokic
authors.affiliation: Division of Hematology/Oncology, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania.
authors.forename: Erika
authors.initials: E
authors.lastname: Friehling
mesh_terms: D059786:Abnormal Karyotype; D002675:Child, Preschool; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000150:complications*; D002897:Chromosomes, Human, Pair 7; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D015470:Leukemia, Myeloid, Acute / Q000150:complications*; D054429:Leukemia, Myelomonocytic, Juvenile / Q000150:complications*; D009190:Myelodysplastic Syndromes / Q000150:complications*; D009634:Noonan Syndrome / Q000150:complications* / Q000235:genetics; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11 / Q000235:genetics
chemical_list: C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11
keywords: JMML; Noonan syndrome; monosomy 7