Notice: Users may be experiencing issues with displaying some pages on stanfordhealthcare.org. We are working closely with our technical teams to resolve the issue as quickly as possible. Thank you for your patience.
 

Learn about the flu shot, COVID-19 vaccine, and our masking policy »

Stanford Health Care

Diminutive somatic deletions in the 5q region lead to a phenotype atypical of classical 5q-syndrome BLOOD Vlachos, A., Farrar, J. E., Atsidaftos, E., Muir, E., Narla, A., Markello, T. C., Singh, S. A., Landowski, M., Gazda, H. T., Blanc, L., Liu, J. M., Ellis, S. R., Arceci, R. J., Ebert, B. L., Bodine, D. M., Lipton, J. M. 2013; 122 (14): 2487-2490

Abstract

Classical 5q- syndrome is an acquired macrocytic anemia of the elderly. Similar to Diamond Blackfan anemia (DBA), an inherited red cell aplasia, the bone marrow is characterized by a paucity of erythroid precursors. RPS14 deletions in combination with other deletions in the region have been implicated as causative of the 5q- syndrome phenotype. We asked whether smaller, less easily detectable deletions could account for a syndrome with a modified phenotype. We employed single-nucleotide polymorphism array genotyping to identify small deletions in patients diagnosed with DBA and other anemias lacking molecular diagnoses. Diminutive mosaic deletions involving RPS14 were identified in a 5-year-old patient with nonclassical DBA and in a 17-year-old patient with myelodysplastic syndrome. Patients with nonclassical DBA and other hypoproliferative anemias may have somatically acquired 5q deletions with RPS14 haploinsufficiency not identified by fluorescence in situ hybridization or cytogenetic testing, thus refining the spectrum of disorders with 5q- deletions.

View details for DOI 10.1182/blood-2013-06-509935

View details for Web of Science ID 000326078200032

View details for PubMedID 23943650