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1

Cryptic rearrangements of chromosome 12 in testicular germ cell tumors with or without the specific i(12p) marker

100%
Grygalewicz B., Pienkowska-Grela B., Woroniecka R.
Journal of Applied Genetics
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2000
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vol. 41
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issue 2
123-131
EN
Isochromosome of the short arm of chromosome 12 [i(12p)] is a highly specific chromosome abnormality of human testicular germ-cell tumors (TGCTs). It has been detected in 80% of cases. Other abnormalities that involved 12p-derived material have been observed in the remaining 20% of cases. In our study, cryptic rearrangements of the short arm of chromosome 12 were distinguished by fluorescence in situ hybridization (FISH) in eight cytogenetically abnormal TGCTs. This group included multiplicated material of 12p-arm in both i(12p)-positive and i(12p)-negative tumors. Such a common occurrence of chromosome 12 short arm rearrangements and overrepresentation of 12p-material confirms that yet unidentified gene(s) on 12p can play an important role in oncogenesis of TGCTs.
2

Significance of chromosomal markers in the diagnosis of mantle cell lymphoma (MCL)

76%
Woroniecka R., Pienkowska-Grela B., Grygalewicz B., Rygier J., Witkowska A., Rymkiewicz G., Jarosinska-Romejko J.
Journal of Applied Genetics
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2002
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vol. 43
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issue 4
545-553
EN
According to the REAL/WHO classification, the diagnosis of mantle cell lymphoma (MCL) should be based on clinical, histopathological, immunological and cytogenetic or molecular data. This study is based on 13 cases, which were initially diagnosed as MCL with the use of conventional cytogenetic method and fluorescent in situ hybridization (FISH). MCL is associated with a specific cytogenetic aberration t(11;14)(q13;q32). The chromosomal analyses confirmed the MCL diagnosis in four cases. A neartetraploid cell line and two copies of t(11;14) were observed in three cases. These results correspond with a blastoid variant of MCL, accompanied by aggressive course and poor prognosis. The presence of karyotype with t(11;14) as the sole anomaly predicts an intermediate clinical outcome. Six patients had normal karyotypes, which is characteristic for the typical form of MCL, associated with a better prognosis. In this study we show that detection of chromosomal abnormalities is useful in diagnosis of MCL and has some prognostic significance.
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