We report four patients with myelodysplastic syndrome (MDS) with isochromosome i(17q) as the sole chromosomal anomaly. One patient was classified as refractory anemia (RA) and three as refractory anemia with excess of blasts (RAEB). All four patients shared several features such as male sex, advanced age, severe anemia, as well as a bone marrow with myeloproliferative characteristics: hypercellularity, prominent baso- and eosinophilia, and marked increase of micromegakaryocytes. We suggest that patients with i(17q) as the sole chromosomal anomaly may identify a distinct MDS with characteristics between MDS and chronic myeloproliferative disorders (CMPD).

Download full-text PDF

Source
http://dx.doi.org/10.1016/0145-2126(93)90080-5DOI Listing

Publication Analysis

Top Keywords

myelodysplastic syndrome
8
i17q sole
8
sole chromosomal
8
chromosomal anomaly
8
refractory anemia
8
isochromosome 17q
4
17q sole
4
sole anomaly
4
anomaly distinct
4
distinct myelodysplastic
4

Similar Publications

JAGN1 (Jagunal-homolog1) is a ER-resident transmembrane protein which is part of the early secretory pathway and granulocyte colony-stimulating factor receptor mediated signaling. Autosomal recessively inherited variants in the JAGN1 gene lead to congenital neutropenia, early-onset bacterial infections, aphthosis and skin abscesses due to aberrant differentiation and maturation of neutrophils. In addition, bone metabolism disorders and a syndromic phenotype, including facial features, short stature and neurodevelopmental delay, have been reported in affected patients.

View Article and Find Full Text PDF

Magnusiomyces capitatus is an environmental fungus found in soil, water, air, plants, and dairy products which may cause opportunistic infections in patients with haematological disorders resulting in high mortality rates. This series of the first reported cases in Ireland discusses investigation of two patients with underlying haematological disorders, hospitalised in the Irish National Adult Stem Cell Transplant Unit (NASCTU), who developed line-related fungaemias with M. capitatus within a three-month period.

View Article and Find Full Text PDF

Chromosomes 5 and 7 are large chromosomes that contain close to 1,000 genes each. Deletions of the long arms or loss of the entire chromosome (monosomy) are common defects in myeloid disorders, particularly MDS and AML. Loss of material from either chromosome 5 or 7 results in haploinsufficiency of multiple genes, with some implicated in leukemogenesis.

View Article and Find Full Text PDF

Mutations in the SLC25A38 gene are responsible for the second most common form of congenital sideroblastic anemia (CSA), a severe condition for which no effective treatment exists. We developed and characterized a K562 erythroleukemia cell line with markedly reduced expression of the SLC25A38 protein (A38-low cells). This model successfully recapitulated the main features of CSA, including reduced heme content and mitochondrial respiration, increase in mitochondrial iron, ROS levels and sensitivity to oxidative stress.

View Article and Find Full Text PDF

Application of Pathomic Features for Differentiating Dysplastic Cells in Patients with Myelodysplastic Syndrome.

Bioengineering (Basel)

December 2024

Department of Laboratory Medicine, Kangnam Sacred Heart Hospital, Hallym University College of Medicine, Seoul 07440, Republic of Korea.

Myelodysplastic syndromes (MDSs) are a group of hematologic neoplasms accompanied by dysplasia of bone marrow (BM) hematopoietic cells with cytopenia. Recently, digitalized pathology and pathomics using computerized feature analysis have been actively researched for classifying and predicting prognosis in various tumors of hematopoietic tissues. This study analyzed the pathomic features of hematopoietic cells in BM aspiration smears of patients with MDS according to each hematopoietic cell lineage and dysplasia.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!