Myeloid neoplasms with isolated isochromosome 17q: a yet to be defined entity

Abstract

Myeloid neoplasms with isolated isochromosome 17q [MN i(17q)] has been described as a distinct entity with poor prognosis. However, literature reports show a considerable clinical and molecular heterogeneity. We describe a 58-year-old male patient who was diagnosed as refractory anemia with multilineage dysplasia and ringed sideroblasts with isolated i(17q). Though he initially responded well to erythropoietin, he gradually progressed to an aggressive form of MDS/MPN refractory to azacytidine and died 29 months after the first diagnosis. Notably, in contrast to disease advancement, his karyotype reverted to normal, whereas his mutational profile remained unchanged. To our knowledge, this is the first report of karyotype normalization during disease progression in patients with MN i(17q). It suggests that the i(17q) anomaly is dispensable for the leukemic transformation and highlighting the underlying clinical and molecular complexity which both has to be resolved before the establishment of MN with isolated i(17q) as a distinct entity.

From cellular morphology to molecular and epigenetic anomalies of myelodysplastic syndromes

“…The i(17q) abnormality is associated with wild‐type TP53 in the remaining allele. ASXL1 (addition of sex Combs‐like 1), SRSF2 (serine and arginine rich splicing factor 2), RAS (resistance to audiogenic seizures), and SETBP1 (SET binding protein 1) are the most frequently mutated genes reported in isolated i(17q) . Some cytogenetic abnormalities from the listed above contribute to the evaluation of prognostic risk in MDS.…”

“…(SET binding protein 1) are the most frequently mutated genes reported in isolated i(17q). 74,75 Some cytogenetic abnormalities from the listed above contribute to the evaluation of prognostic risk in MDS. Thus, patients with MDS with trisomy 11 are classified as intermediate risk or poor prognosis according to IPSS and the IPSS-R. 68,76 Also, MLL (mixed-lineage leukemia) gene located in 11q23 is altered in 50% of patients with MDS with +11.…”

Prognostic significance of isochromosome 17q in hematologic malignancies

“…The authors detected somatic IGHV hypermutation in all patients, and TP53 mutations in 71.4% of all those enrolled in the study. The patients with i(17q) and complex karyotypes had poorer OS compared to the patients with other abnormalities of 17p13 [ 72 ]. Alhourani et al [ 71 ] tried to assess if the presence of i(17q) could be a prognostic marker for CLL patients.…”