| Note |
an isochromosome 17 results in a loss of the short arm (17p) and duplication of the long arm (17q) leading to a single copy of 17p and three copies of 17q an i(17q), usually observed in a complex karyotype, has been reported in solid tumors and in various types of hematological diseases: acute and chronic myeloid leukemias, acute lymphoid leukemiasand chronic lymphoid leukemias, and Hodgkin and non-Hodgkin lymphomas inchronic myeloid leukemia, i(17q) is a frequent and well known secondary anomaly, either solely in 10% of cases, or with other additional anomalies , in at least another 10% of cases, in particular with +8. |
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i(17q) G- banding (left) - Courtesy Jean-Luc Lai (top) and Diane H. Norback, Eric B. Johnson, and Sara Morrison-Delap, UW Cytogenetic Services (middle and bottom); and R- banding (right) - top: Editor, bottom: Courtesy Jacques Boyer. |
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| Disease | myeloproliferative/myelodysplastic diseases (MPD/MDS) |
| Phenotype / cell stem origin | previous studies on isolated i(17q) have suggested this aberration was associated with chronic myeloid abnormalities with a high rate of progression to ANLL; a new clinico-pathological entity in which i(17q) is the sole abnormality has been reported in a mixed myeloproliferative disorder / myelodysplastic syndrome with an aggressive course; ifteen patients were included in this study classified as chronic myeloid malignancy at initial presentation: these features were not confirmed after a negative molecular BCR-ABL analysis in all cases studied (eleven patients) |
| Etiology | i(17q) as sole cytogenetic aberration represents only 1% of cases in myeloid malignancies |
| Cytology | a severe hyposegmentation of neutrophil nuclei (pseudo-Pelger Huet neutrophils (PHH)) and a prominence of the monocyte/macrophage lineage has been noted; other studies have identified an association between hyposegmented neutrophils and loss of 17p (called 17p- syndrome), always included in complex karyotypes; the i(17q) appeared to be a part of the malignant clone as demonstrated in cases available for a FISH analysis: all myeloid cell lines observed contained the abnormal i(17q), whereas none of the lymphocytes were affected |
| Prognosis | by standard Kaplan-Meier analysis, the median survival was 2.5 years (range 0.85-5.25 years) |
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