Unbalanced translocation der(1;7)(q10;p10) defines a unique clinicopathological subgroup of myeloid neoplasms

Abstract

The unbalanced translocation, der(1;7)(q10;p10), is one of the characteristic cytogenetic abnormalities found in myelodysplastic syndromes (MDS) and other myeloid neoplasms. Although described frequently with very poor clinical outcome and possible relationship with monosomy 7 or 7q-(À7/7q-), this recurrent cytogenetic abnormality has not been explored fully. Here we analyzed retrospectively 77 cases with der(1;7)(q10;p10) in terms of their clinical and cytogenetic features, comparing with other 46 adult À7/7q-cases without der(1;7)(q10;p10). In contrast with other À7/7q-cases, where the abnormality tends to be found in one or more partial karyotypes, der(1;7)(q10;p10) represents the abnormality common to all the abnormal clones and usually appears as a sole chromosomal abnormality during the entire clinical courses, or if not, is accompanied only by a limited number and variety of additional abnormalities, mostly trisomy 8 and/or loss of 20q. der(1;7)(q10;p10)-positive MDS cases showed lower blast counts (Po0.0001) and higher hemoglobin concentrations (Po0.0075) at diagnosis and slower progression to acute myeloid leukemia (P ¼ 0.0043) than other À7/7q-cases. der(1;7)(q10;p10) cases showed significantly better clinical outcome than other À7/7q cases (Po0.0001). In conclusion, der(1;7)(q10;p10) defines a discrete entity among myeloid neoplasms, showing unique clinical and cytogenetic characteristics. Leukemia (2007) 21, 992-997.

Validation of the new comprehensive cytogenetic scoring system (NCCSS) on 630 consecutive de novo MDS patients from a single institution

“…Instead, in our series the five patients with der(1;7)(q10;q10) experienced a clinical outcome similar to that of normal karyotypes. Thus, in agreement with Sanada et al [39] and in contrast with Slovak et al [40], our result confirms that der(1;7)(q10;p10) truly defines a distinct MDS risk group with an OS and a LFS significantly better than those associated with 27 and del(7q).…”

Sole abnormalities of chromosome 7 in myeloid malignancies: Spectrum, histopathologic correlates, and prognostic implications

“…Previous reports in MDS have suggested that 7q-or der(1;7) is prognostically better than monosomy 7 [9][10][11][12][13]. However, these studies mostly used univariate analysis in their evaluation of survival: Hasse et al [9] (a tendency toward better survival with 7q-compared to monosomy 7), Pozdnyakova et al [10] (better survival with 7q-or der(1;7) compared to monosomy 7), and Cordoba et al [11] (better survival with 7q-compared to monosomy 7).…”

“…However, these studies mostly used univariate analysis in their evaluation of survival: Hasse et al [9] (a tendency toward better survival with 7q-compared to monosomy 7), Pozdnyakova et al [10] (better survival with 7q-or der(1;7) compared to monosomy 7), and Cordoba et al [11] (better survival with 7q-compared to monosomy 7). Multivariable analysis was utilized in the study by Sanada et al [13] (better survival with der(1;7) compared to either 7q-or monosomy 7) but the results were confounded by the inclusion of patients with therapy-related MDS and those with multiple chromosome abnormalities. Most recently, Schanz et al [12] reported that 7q-was more favorable with regards to overall survival as compared to monosomy 7, when each was considered as a single abnormality, but their observation was internally inconsistent in that 7q-and monosomy 7 were considered equivalent for defining double abnormalities.…”

“…The international prognostic scoring system (IPSS) considers complex karyotype (=3 abnormalities) and chromosome 7 abnormalities as poor-risk karyotype in MDS and does not distinguish between monosomy 7 and other chromosome 7 abnormalities [8]. However, recent reports have suggested that MDS patients with 7q-or der(1;7)(q10;p10) might carry a better prognosis than those with monosomy 7 [9][10][11][12][13] whereas others have refuted such a distinction [14]. In many of these studies, prognostic assessment of chromosome 7 abnormalities was confounded by the inclusion of patients with additional other chromosome abnormalities and those with therapy-related MDS [9,13,14].…”

“…However, recent reports have suggested that MDS patients with 7q-or der(1;7)(q10;p10) might carry a better prognosis than those with monosomy 7 [9-13] whereas others have refuted such a distinction [14]. In many of these studies, prognostic assessment of chromosome 7 abnormalities was confounded by the inclusion of patients with additional other chromosome abnormalities and those with therapy-related MDS [9,13,14].In the current study, we focused on sole chromosome 7 abnormalities to avoid confounding from other chromosomal abnormalities. Our objectives were to (i) describe the prevalence and spectrum of chromosome 7 abnormalities in an unselected cohort of cytogenetic studies performed at our institution over a 20-year period, (ii) describe the specific histopathologic diagnoses associated with these abnormalities, and (iii) assess interabnormality [i.e., monosomy 7 vs. 7q-vs der(1;7)(q10;p10)] prognostic differences in the context of primary MDS and after accounting for presence or absence of excess blasts or multilineage dysplasia.…”