title: Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia.
abstract: Pearson marrow pancreas syndrome (PS) is a multisystem disorder caused by mitochondrial DNA (mtDNA) deletions. Diamond-Blackfan anemia (DBA) is a congenital hypoproliferative anemia in which mutations in ribosomal protein genes and GATA1 have been implicated. Both syndromes share several features including early onset of severe anemia, variable nonhematologic manifestations, sporadic genetic occurrence, and occasional spontaneous hematologic improvement. Because of the overlapping features and relative rarity of PS, we hypothesized that some patients in whom the leading clinical diagnosis is DBA actually have PS. Here, we evaluated patient DNA samples submitted for DBA genetic studies and found that 8 (4.6%) of 173 genetically uncharacterized patients contained large mtDNA deletions. Only 2 (25%) of the patients had been diagnosed with PS on clinical grounds subsequent to sample submission. We conclude that PS can be overlooked, and that mtDNA deletion testing should be performed in the diagnostic evaluation of patients with congenital anemia.
authors.affiliation: Division of Hematology/Oncology, Stem Cell Program, and.
authors.forename: Katelyn E
authors.initials: KE
authors.lastname: Gagne
authors.affiliation: Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA;
authors.forename: Roxanne
authors.initials: R
authors.lastname: Ghazvinian
authors.affiliation: Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA;
authors.forename: Daniel
authors.initials: D
authors.lastname: Yuan
authors.affiliation: Division of Hematology/Oncology, Stem Cell Program, and.
authors.forename: Rebecca L
authors.initials: RL
authors.lastname: Zon
authors.affiliation: Papé Family Pediatric Research Institute, Oregon Stem Cell Center, Oregon Health & Science University, Portland, OR;
authors.forename: Kelsie
authors.initials: K
authors.lastname: Storm
authors.affiliation: Department of Pediatric Hematology, Oncology and Transplantation, Wroclaw Medical University, Wroclaw, Poland;
authors.forename: Magdalena
authors.initials: M
authors.lastname: Mazur-Popinska
authors.affiliation: Women and Children's Hospital of Buffalo, Buffalo, NY;
authors.forename: Laura
authors.initials: L
authors.lastname: Andolina
authors.affiliation: Department of Pediatric Hematology/Oncology, Medical University of Silesia, Zabrze, Poland;
authors.forename: Halina
authors.initials: H
authors.lastname: Bubala
authors.affiliation: Department of Pediatric Hematology/Oncology, Medical University of Warsaw, Poland;
authors.forename: Sydonia
authors.initials: S
authors.lastname: Golebiowska
authors.affiliation: Women and Children's Hospital of Buffalo, Buffalo, NY;
authors.forename: Meghan A
authors.initials: MA
authors.lastname: Higman
authors.affiliation: Department of Pediatric Hematology, Oncology and Transplantation, Wroclaw Medical University, Wroclaw, Poland;
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Kalwak
authors.affiliation: Papé Family Pediatric Research Institute, Oregon Stem Cell Center, Oregon Health & Science University, Portland, OR;
authors.forename: Peter
authors.initials: P
authors.lastname: Kurre
authors.affiliation: Department of Pediatric Hematology/Oncology, Medical University of Warsaw, Poland;
authors.forename: Michal
authors.initials: M
authors.lastname: Matysiak
authors.affiliation: Department of Pediatric Hematology/Oncology, Medical University of Warsaw, Poland;
authors.forename: Edyta
authors.initials: E
authors.lastname: Niewiadomska
authors.affiliation: Pediatrics, Yale University School of Medicine, New Haven, CT;
authors.forename: Salley
authors.initials: S
authors.lastname: Pels
authors.affiliation: Women and Children's Hospital of Buffalo, Buffalo, NY;
authors.forename: Mary Jane
authors.initials: MJ
authors.lastname: Petruzzi
authors.affiliation: Department of Pediatric Hematology/Oncology, Medical University of Silesia, Zabrze, Poland;
authors.forename: Aneta
authors.initials: A
authors.lastname: Pobudejska-Pieniazek
authors.affiliation: Department of Pediatric Hematology/Oncology, Medical University of Silesia, Zabrze, Poland;
authors.forename: Tomasz
authors.initials: T
authors.lastname: Szczepanski
authors.affiliation: Department of Pathology, Boston Children's Hospital, Boston, MA;
authors.forename: Mark D
authors.initials: MD
authors.lastname: Fleming
authors.affiliation: Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA; Harvard Medical School, Boston, MA; Broad Institute, Cambridge, MA; and.
authors.forename: Hanna T
authors.initials: HT
authors.lastname: Gazda
authors.affiliation: Division of Hematology/Oncology, Stem Cell Program, and Harvard Medical School, Boston, MA; Harvard Stem Cell Institute, Cambridge, MA.
authors.forename: Suneet
authors.initials: S
authors.lastname: Agarwal
mesh_terms: D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency* / Q000235:genetics; D029503:Anemia, Diamond-Blackfan / Q000175:diagnosis* / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D000080984:Congenital Bone Marrow Failure Syndromes; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D003937:Diagnosis, Differential; D006801:Humans; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics*; D028361:Mitochondrial Diseases / Q000175:diagnosis* / Q000235:genetics*; D009135:Muscular Diseases / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation; D017384:Sequence Deletion
chemical_list: D004272:DNA, Mitochondrial; D044942:Acyl-CoA Dehydrogenase, Long-Chain
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