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Acquisition of monosomy 7 and a RUNX1 mutation in Pearson syndrome
Author(s) -
Nishimura Akira,
Hirabayashi Shinsuke,
Hasegawa Daisuke,
Yoshida Kenichi,
Shiraishi Yuichi,
Ashiarai Miho,
Hosoya Yosuke,
Fujiwara Tohru,
Harigae Hideo,
Miyano Satoru,
Ogawa Seishi,
Manabe Atsushi
Publication year - 2021
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.28799
Subject(s) - sideroblastic anemia , medicine , pancytopenia , monosomy , aplastic anemia , fanconi anemia , cytopenia , anemia , mutation , runx1 , exome sequencing , pathology , bone marrow , genetics , karyotype , haematopoiesis , biology , dna , gene , chromosome , dna repair , stem cell
Pearson syndrome (PS) is a very rare and often fatal multisystem disease caused by deletions in mitochondrial DNA that result in sideroblastic anemia, vacuolization of marrow precursors, and pancreatic dysfunction. Spontaneous recovery from anemia is often observed within several years of diagnosis. We present the case of a 4‐month‐old male diagnosed with PS who experienced prolonged severe pancytopenia preceding the emergence of monosomy 7. Whole‐exome sequencing identified two somatic mutations, including RUNX1 p.S100F that was previously reported as associated with myeloid malignancies. The molecular defects associated with PS may have the potential to progress to advanced myelodysplastic syndrome .