Relation between mutations in the 5′ UTR of ANKRD26 gene and inherited thrombocytopenia with predisposition to myeloid malignancies. An Egyptian study
Inherited thrombocytopenias are a heterogeneous group of diseases characterized by a reduced number of platelets and a bleeding tendency that ranges from very mild to life threatening especially in surgery. Mutations in the 5′ untranslated region (UTR) of Ankirin repeat domain 26 (ANKRD26) are respo...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Taylor & Francis Group
2021-07-01
|
| Series: | Platelets |
| Subjects: | |
| Online Access: | http://dx.doi.org/10.1080/09537104.2020.1790512 |
| _version_ | 1827816866922364928 |
|---|---|
| author | Nahla Ibrahim Zidan Doaa Metwally AbdElmonem Haitham Mohamed Elsheikh Elsayed Anany Metwally Wesam AbdElmonem Mokhtar Gamal Mohamed Osman |
| author_facet | Nahla Ibrahim Zidan Doaa Metwally AbdElmonem Haitham Mohamed Elsheikh Elsayed Anany Metwally Wesam AbdElmonem Mokhtar Gamal Mohamed Osman |
| author_sort | Nahla Ibrahim Zidan |
| collection | DOAJ |
| description | Inherited thrombocytopenias are a heterogeneous group of diseases characterized by a reduced number of platelets and a bleeding tendency that ranges from very mild to life threatening especially in surgery. Mutations in the 5′ untranslated region (UTR) of Ankirin repeat domain 26 (ANKRD26) are responsible for autosomal-dominant form of thrombocytopenia, that is known as ANKRD26-related thrombocytopenia (ANKRD26 RT), characterized by a moderate thrombocytopenia with mild propensity to bleeding and predisposition to hematological malignancies including AML and MDS. We included 90 unrelated patients with inherited thrombocytopenia. In addition, we investigated 45 patients with ITP. Peripheral blood and bone marrow samples were collected and examined and molecular detection of mutations in the 5︡ UTR of ANKRD26 gene was performed for all the patients. Also, screening of the mutation and development of myeloid malignancies in the extended series of the affected subjects was done. ANKRD26 mutations were identified in 10% of the patients with inherited thrombocytopenia. The most common types were c.128 G > A and c.127A>T, while no mutations were found in the ITP group. In those affected, the median number of platelets was 69 x109/L (43–106) with normal MPV in most of the patients (9.4–11.6). There was a statistically significant increase in the unexpected high frequency of myeloid malignancies in the extended series of the mutated subjects compared with the ITP group-extended series (P < .001). So, we can conclude that ANKRD26 RT is associated with increased risk for developing myeloid malignancies and ANKRD26 mutations can represent a valuable tool for making therapeutic decisions. |
| first_indexed | 2024-03-12T00:26:27Z |
| format | Article |
| id | doaj.art-a8dc618b61d246678946df20b53013bb |
| institution | Directory Open Access Journal |
| issn | 0953-7104 1369-1635 |
| language | English |
| last_indexed | 2024-03-12T00:26:27Z |
| publishDate | 2021-07-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | Platelets |
| spelling | doaj.art-a8dc618b61d246678946df20b53013bb2023-09-15T10:38:08ZengTaylor & Francis GroupPlatelets0953-71041369-16352021-07-0132564265010.1080/09537104.2020.17905121790512Relation between mutations in the 5′ UTR of ANKRD26 gene and inherited thrombocytopenia with predisposition to myeloid malignancies. An Egyptian studyNahla Ibrahim Zidan0Doaa Metwally AbdElmonem1Haitham Mohamed Elsheikh2Elsayed Anany Metwally3Wesam AbdElmonem Mokhtar4Gamal Mohamed Osman5Zagazig UniversityZagazig UniversityZagazig UniversityZagazig UniversityZagazig UniversityZagazig UniversityInherited thrombocytopenias are a heterogeneous group of diseases characterized by a reduced number of platelets and a bleeding tendency that ranges from very mild to life threatening especially in surgery. Mutations in the 5′ untranslated region (UTR) of Ankirin repeat domain 26 (ANKRD26) are responsible for autosomal-dominant form of thrombocytopenia, that is known as ANKRD26-related thrombocytopenia (ANKRD26 RT), characterized by a moderate thrombocytopenia with mild propensity to bleeding and predisposition to hematological malignancies including AML and MDS. We included 90 unrelated patients with inherited thrombocytopenia. In addition, we investigated 45 patients with ITP. Peripheral blood and bone marrow samples were collected and examined and molecular detection of mutations in the 5︡ UTR of ANKRD26 gene was performed for all the patients. Also, screening of the mutation and development of myeloid malignancies in the extended series of the affected subjects was done. ANKRD26 mutations were identified in 10% of the patients with inherited thrombocytopenia. The most common types were c.128 G > A and c.127A>T, while no mutations were found in the ITP group. In those affected, the median number of platelets was 69 x109/L (43–106) with normal MPV in most of the patients (9.4–11.6). There was a statistically significant increase in the unexpected high frequency of myeloid malignancies in the extended series of the mutated subjects compared with the ITP group-extended series (P < .001). So, we can conclude that ANKRD26 RT is associated with increased risk for developing myeloid malignancies and ANKRD26 mutations can represent a valuable tool for making therapeutic decisions.http://dx.doi.org/10.1080/09537104.2020.1790512ankirin repeat domain 26 related thrombocytopeniahematological malignanciesinherited thrombocytopenia |
| spellingShingle | Nahla Ibrahim Zidan Doaa Metwally AbdElmonem Haitham Mohamed Elsheikh Elsayed Anany Metwally Wesam AbdElmonem Mokhtar Gamal Mohamed Osman Relation between mutations in the 5′ UTR of ANKRD26 gene and inherited thrombocytopenia with predisposition to myeloid malignancies. An Egyptian study Platelets ankirin repeat domain 26 related thrombocytopenia hematological malignancies inherited thrombocytopenia |
| title | Relation between mutations in the 5′ UTR of ANKRD26 gene and inherited thrombocytopenia with predisposition to myeloid malignancies. An Egyptian study |
| title_full | Relation between mutations in the 5′ UTR of ANKRD26 gene and inherited thrombocytopenia with predisposition to myeloid malignancies. An Egyptian study |
| title_fullStr | Relation between mutations in the 5′ UTR of ANKRD26 gene and inherited thrombocytopenia with predisposition to myeloid malignancies. An Egyptian study |
| title_full_unstemmed | Relation between mutations in the 5′ UTR of ANKRD26 gene and inherited thrombocytopenia with predisposition to myeloid malignancies. An Egyptian study |
| title_short | Relation between mutations in the 5′ UTR of ANKRD26 gene and inherited thrombocytopenia with predisposition to myeloid malignancies. An Egyptian study |
| title_sort | relation between mutations in the 5 utr of ankrd26 gene and inherited thrombocytopenia with predisposition to myeloid malignancies an egyptian study |
| topic | ankirin repeat domain 26 related thrombocytopenia hematological malignancies inherited thrombocytopenia |
| url | http://dx.doi.org/10.1080/09537104.2020.1790512 |
| work_keys_str_mv | AT nahlaibrahimzidan relationbetweenmutationsinthe5utrofankrd26geneandinheritedthrombocytopeniawithpredispositiontomyeloidmalignanciesanegyptianstudy AT doaametwallyabdelmonem relationbetweenmutationsinthe5utrofankrd26geneandinheritedthrombocytopeniawithpredispositiontomyeloidmalignanciesanegyptianstudy AT haithammohamedelsheikh relationbetweenmutationsinthe5utrofankrd26geneandinheritedthrombocytopeniawithpredispositiontomyeloidmalignanciesanegyptianstudy AT elsayedananymetwally relationbetweenmutationsinthe5utrofankrd26geneandinheritedthrombocytopeniawithpredispositiontomyeloidmalignanciesanegyptianstudy AT wesamabdelmonemmokhtar relationbetweenmutationsinthe5utrofankrd26geneandinheritedthrombocytopeniawithpredispositiontomyeloidmalignanciesanegyptianstudy AT gamalmohamedosman relationbetweenmutationsinthe5utrofankrd26geneandinheritedthrombocytopeniawithpredispositiontomyeloidmalignanciesanegyptianstudy |