TY - JOUR
T1 - Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia
AU - Gagne, Katelyn E.
AU - Ghazvinian, Roxanne
AU - Yuan, Daniel
AU - Zon, Rebecca L.
AU - Storm, Kelsie
AU - Mazur-Popinska, Magdalena
AU - Andolina, Laura
AU - Bubala, Halina
AU - Golebiowska, Sydonia
AU - Higman, Meghan A.
AU - Kalwak, Krzysztof
AU - Kurre, Peter
AU - Matysiak, Michal
AU - Niewiadomska, Edyta
AU - Pels, Salley
AU - Petruzzi, Mary Jane
AU - Pobudejska-Pieniazek, Aneta
AU - Szczepanski, Tomasz
AU - Fleming, Mark D.
AU - Gazda, Hanna T.
AU - Agarwal, Suneet
PY - 2014/7/17
Y1 - 2014/7/17
N2 - 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 nonhematologicmanifestations, 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 diagnosedwithPSon clinical grounds subsequent to samplesubmission. We conclude that PS can be overlooked, and that mtDNA deletion testing should be performed in the diagnostic evaluation of patients with congenital anemia.
AB - 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 nonhematologicmanifestations, 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 diagnosedwithPSon clinical grounds subsequent to samplesubmission. We conclude that PS can be overlooked, and that mtDNA deletion testing should be performed in the diagnostic evaluation of patients with congenital anemia.
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U2 - 10.1182/blood-2014-01-545830
DO - 10.1182/blood-2014-01-545830
M3 - Article
C2 - 24735966
AN - SCOPUS:84904507797
SN - 0006-4971
VL - 124
SP - 437
EP - 440
JO - Blood
JF - Blood
IS - 3
ER -