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An acquired stable variant of a dicentric dic(9;20) and complex karyotype in a ...

Wafa, Abdulsamad; Jarjour, Rami A.; Aljapawe, Abdulmunim; ALmedania, Suher; Liehr, Thomas; Melo, Joana B.; Carreira, Isabel M.; Othman, Moneeb A. K.

Background: About 25 years ago, the acquired chromosome abnormality dicentric dic(9;20)(p11 ~ 13;q11) was seen described as a non-random aberration in B-cell precursor acute lymphoblastic leukemia (BCP-ALL). Yet, about 200 cases were reported. However, dicentric dic(9;20) is a subtle abnormality which easily may be mixed up with monosomy 20 and/or del(9p). The dicentric dic(9;20) can be found as a sole chromoso...


A new childhood ALL case with an extremely complex karyotype and acute spontane...

Wafa, Abdulsamad; Jarjour, Rami A; Alolabi, Doaa; Liehr, Thomas; Hamdan, Othman; Melo, Joana B.; Carreira, Isabel M.; Othman, Moneeb A. K.

Background: B cell precursor acute lymphoblastic leukemia (B-ALL) is the most common malignancy of childhood, with, after corresponding treatment, an overall complete remission rate of 90%. Approximately 75% of B-ALL cases harbor recurrent abnormalities, including so-called complex karyotypes (CK). Tumor lysis syndrome (TLS) is a metabolic abnormality which may arise during cancer therapy and also, extremely ra...


Molecular cytogenetic pilot study on pleomorphic adenomas of salivary glands

Thielker, Jovanna; Weise, Anja; Othman, Moneeb A. K.; Carreira, Isabel M.; Melo, Joana B.; Von Eggeling, Ferdinand; Guntinas-Lichius, Orlando

Pleomorphic adenomas (PAs) of salivary glands are the most frequent entity of solid parotid tumors. Nonetheless, their genetics is not yet well understood. Thus, the current study characterized 14 PAs using a unique combination of cytogenetic, molecular cytogenetic and/or molecular karyotyping based approaches. The current study applied G-banding based on trypsin treatment and Giemsa-staining in peripheral bloo...


BIRC3 alterations in chronic and B-cell acute lymphocytic leukemia patients

Alhourani, Eyad; Othman, Moneeb A. K.; Melo, Joana Barbosa; Carreira, Isabel M.; Grygalewicz, Beata; Vujić, Dragana; Zecević, Zeljko; Joksić, Gordana

Deletions within chromosome 11q22-23, are considered among the most common chromosomal aberrations in chronic lymphocytic leukemia (CLL), and are associated with a poor outcome. In addition to the ataxia telangiectasia mutated (ATM) gene, the baculoviral IAP repeat-containing 3 (BIRC3) gene is also located in the region. BIRC3 encodes a negative regulator of the non-canonical nuclear factor κ-light-chain-enhanc...


High rates of submicroscopic aberrations in karyotypically normal acute lymphob...

Othman, Moneeb A. K.; Melo, Joana B.; Carreira, Isabel M.; Rincic, Martina; Glaser, Anita; Grygalewicz, Beata; Gruhn, Bernd; Wilhelm, Kathleen

Background: Acute lymphoblastic leukemia (ALL) is not a single uniform disease. It consists of several subgroups with different cytogenetic and molecular genetic aberrations, clinical presentations and outcomes. Banding cytogenetics plays a pivotal role in the detection of recurrent chromosomal rearrangements and is the starting point of genetic analysis in ALL, still. Nowadays, molecular (cyto)genetic tools pr...


A Novel Cryptic Three-Way Translocation t(2;9;18)(p23.2;p21.3;q21.33) with Dele...

Othman, Moneeb A. K.; Rincic, Martina; Melo, Joana B.; Carreira, Isabel M.; Alhourani, Eyad; Hunstig, Friederike; Glaser, Anita; Liehr, Thomas

Acute leukemia often presents with pure chromosomal resolution; thus, aberrations may not be detected by banding cytogenetics. Here, a case of 26-year-old male diagnosed with T-cell acute lymphoblastic leukemia (T-ALL) and a normal karyotype after standard GTG-banding was studied retrospectively in detail by molecular cytogenetic and molecular approaches. Besides fluorescence in situ hybridization (FISH), multi...


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