Cytogenetic features in primary myelodysplastic syndrome Egyptian patients
Karyotype is the most important diagnostic and prognostic parameter in myelodysplastic syndromes (MDS) and is abnormal in approximately 50% of patients. We emphasized the importance of chromosomal analysis and reported the most frequent cytogenetic abnormalities in 50 MDS (29 males (58%) and 21 fema...
| Asıl Yazarlar: | , |
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| Materyal Türü: | Makale |
| Dil: | English |
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Elsevier
2018-03-01
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| Seri Bilgileri: | Journal of Advanced Research |
| Konular: | |
| Online Erişim: | http://www.sciencedirect.com/science/article/pii/S2090123218300225 |
| _version_ | 1828927653421252608 |
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| author | Yasser Elnahass Lamiaa Youssif |
| author_facet | Yasser Elnahass Lamiaa Youssif |
| author_sort | Yasser Elnahass |
| collection | DOAJ |
| description | Karyotype is the most important diagnostic and prognostic parameter in myelodysplastic syndromes (MDS) and is abnormal in approximately 50% of patients. We emphasized the importance of chromosomal analysis and reported the most frequent cytogenetic abnormalities in 50 MDS (29 males (58%) and 21 females (42%), median age: 57.5 years) Egyptian patients using conventional banding analysis (CBA). Karyotype description was conducted according to the International System for Human Cytogenetic Nomenclature (ISCN, 2013). Patients were diagnosed based on complete history, bone marrow (BM) aspirate, peripheral blood (PBL) examination, and Iron stain. MDS with multilineage dysplasia (MDS-MLD) was the most frequently encountered subtype; 19/50 (38%) followed by MDS with single lineage dysplasia (MDS-SLD); 11/50 (22%). 27/50 patients (54%) showed a normal karyotype while 23 patients (46%) showed clonal nonrandom chromosomal abnormalities. Most patients with MDS with excess blasts-II (MDS-EB-II) showed abnormal karyotype (3/4; 75%) followed by MDS-EB-I (3/5, 60%) and MDS-MLD (10/19, 53%). Among 50 primary MDS patients; 14/50 (28%) had a single chromosomal abnormality, 3/50 (6%) had double chromosomal abnormality, and 6/50 (12%) had complex karyotype. Male sex was more frequently associated with higher IPSS prognostic risk categories than female gender. The most common single chromosomal abnormalities were −5/del5q; 7/50 (14%) patients followed by −7; 4/50 (8%) patients. +8, del20q and delY were each detected in 1/50 patient (2%). Abnormalities of chromosome 5 (−5/del5q) as a single chromosomal abnormality was the most frequent chromosomal abnormality among Egyptian primary MDS patients followed by complex karyotype. Cytogenetic characteristics of MDS Egyptian patients were similar to North African and European patients. Karyotype offers useful information in establishing accurate diagnosis and male gender is an important predisposing factor that can predict worse prognosis in MDS patients. |
| first_indexed | 2024-12-13T23:52:50Z |
| format | Article |
| id | doaj.art-db183aba02b64dd1af8136e88a6981f8 |
| institution | Directory Open Access Journal |
| issn | 2090-1232 2090-1224 |
| language | English |
| last_indexed | 2024-12-13T23:52:50Z |
| publishDate | 2018-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Journal of Advanced Research |
| spelling | doaj.art-db183aba02b64dd1af8136e88a6981f82022-12-21T23:26:43ZengElsevierJournal of Advanced Research2090-12322090-12242018-03-0110C778310.1016/j.jare.2018.02.002Cytogenetic features in primary myelodysplastic syndrome Egyptian patientsYasser Elnahass0Lamiaa Youssif1Department of Clinical Pathology, National Cancer Institute, Cairo University, Cairo, EgyptDepartment of Molecular Diagnostics, Genetic Engineering and Biotechnology Research Institute, University of Sadat City, Sadat City, Menoufia Province, EgyptKaryotype is the most important diagnostic and prognostic parameter in myelodysplastic syndromes (MDS) and is abnormal in approximately 50% of patients. We emphasized the importance of chromosomal analysis and reported the most frequent cytogenetic abnormalities in 50 MDS (29 males (58%) and 21 females (42%), median age: 57.5 years) Egyptian patients using conventional banding analysis (CBA). Karyotype description was conducted according to the International System for Human Cytogenetic Nomenclature (ISCN, 2013). Patients were diagnosed based on complete history, bone marrow (BM) aspirate, peripheral blood (PBL) examination, and Iron stain. MDS with multilineage dysplasia (MDS-MLD) was the most frequently encountered subtype; 19/50 (38%) followed by MDS with single lineage dysplasia (MDS-SLD); 11/50 (22%). 27/50 patients (54%) showed a normal karyotype while 23 patients (46%) showed clonal nonrandom chromosomal abnormalities. Most patients with MDS with excess blasts-II (MDS-EB-II) showed abnormal karyotype (3/4; 75%) followed by MDS-EB-I (3/5, 60%) and MDS-MLD (10/19, 53%). Among 50 primary MDS patients; 14/50 (28%) had a single chromosomal abnormality, 3/50 (6%) had double chromosomal abnormality, and 6/50 (12%) had complex karyotype. Male sex was more frequently associated with higher IPSS prognostic risk categories than female gender. The most common single chromosomal abnormalities were −5/del5q; 7/50 (14%) patients followed by −7; 4/50 (8%) patients. +8, del20q and delY were each detected in 1/50 patient (2%). Abnormalities of chromosome 5 (−5/del5q) as a single chromosomal abnormality was the most frequent chromosomal abnormality among Egyptian primary MDS patients followed by complex karyotype. Cytogenetic characteristics of MDS Egyptian patients were similar to North African and European patients. Karyotype offers useful information in establishing accurate diagnosis and male gender is an important predisposing factor that can predict worse prognosis in MDS patients.http://www.sciencedirect.com/science/article/pii/S2090123218300225MDSGenderChromosomal abnormalities−5/5q-MDS-MLDMDS-EB-II |
| spellingShingle | Yasser Elnahass Lamiaa Youssif Cytogenetic features in primary myelodysplastic syndrome Egyptian patients Journal of Advanced Research MDS Gender Chromosomal abnormalities −5/5q- MDS-MLD MDS-EB-II |
| title | Cytogenetic features in primary myelodysplastic syndrome Egyptian patients |
| title_full | Cytogenetic features in primary myelodysplastic syndrome Egyptian patients |
| title_fullStr | Cytogenetic features in primary myelodysplastic syndrome Egyptian patients |
| title_full_unstemmed | Cytogenetic features in primary myelodysplastic syndrome Egyptian patients |
| title_short | Cytogenetic features in primary myelodysplastic syndrome Egyptian patients |
| title_sort | cytogenetic features in primary myelodysplastic syndrome egyptian patients |
| topic | MDS Gender Chromosomal abnormalities −5/5q- MDS-MLD MDS-EB-II |
| url | http://www.sciencedirect.com/science/article/pii/S2090123218300225 |
| work_keys_str_mv | AT yasserelnahass cytogeneticfeaturesinprimarymyelodysplasticsyndromeegyptianpatients AT lamiaayoussif cytogeneticfeaturesinprimarymyelodysplasticsyndromeegyptianpatients |