Trisomy 8 in a patient who responded to therapy with all‐ trans ‐retinoic acid and developed paroxysmal nocturnal haemoglobinuria
| Autor: | Anastasios Andreopoulos, John Meletis, Evi Michali, Nora Viniou, Dimitris Loukopoulos, N. Stavroyianni, G. Vaiopoulos, Xenophon Yataganas |
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| Rok vydání: | 1997 |
| Předmět: |
medicine.medical_specialty
Numerical Chromosomal Abnormality Adolescent Mosaicism Myelodysplastic syndromes Hemoglobinuria Paroxysmal Cytogenetics Aneuploidy Tretinoin Trisomy Hematology Biology medicine.disease Trisomy 8 Germline mutation Myelodysplastic Syndromes hemic and lymphatic diseases Immunology medicine Humans Female Complication Chromosomes Human Pair 8 |
| Zdroj: | British Journal of Haematology. 97:135-136 |
| ISSN: | 1365-2141 0007-1048 |
| DOI: | 10.1046/j.1365-2141.1997.d01-2123.x |
| Popis: | Trisomy 8 is the most common numerical chromosomal abnormality in myelodysplastic syndromes (MDS). Paroxysmal nocturnal haemoglobinuria (PNH) is an aquired haemolytic anaemia, clonal in nature, due to somatic mutation. PNH may evolve to aplastic anaemia, to MDS or to acute myeloid leukaemia. We present a patient who had trisomy 8 mosaicism at disease presentation who received therapy with all-trans-retinoic acid, responded to therapy, and developed PNH in the course of the disease. Cytogenetics at the time of PNH diagnosis showed a normal karyotype. |
| Databáze: | OpenAIRE |
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