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Clinical features and prognosis of patients with myeloid neoplasms harboring t(7;11)(p15;p15) translocation: a single-center retrospective study

BMC Cancer volume 24, Article number: 955 (2024) Cite this article

Abstract

Background

For myeloid neoplasms with t(7;11)(p15;p15) translocation, the prognosis is quite dismal. Because these tumors are rare, most occurrences are reported as single cases. Clinical results and optimal treatment approaches remain elusive. This study endeavors to elucidate the clinical implications and prognosis of this cytogenetic aberration.

Methods

This study retrospectively analyzed 23 cases of myeloid neoplasm with t(7;11)(p15;p15). Clinicopathological characteristics, genetic alterations, and outcomes were evaluated, and the Kaplan-Meier method was employed to construct survival curves.

Results

Of these, nine cases were newly diagnosed acute myeloid leukemia (ND AML), seven presented with relapsed refractory AML (R/R AML), four had myelodysplastic syndrome (MDS), two had secondary AML, and one exhibited a mixed germinoma associated with MDS. Patients with t(7;11)(p15;p15) in AML were primarily younger females who preferred subtype M2. Interestingly, these patients had decreased hemoglobin and red blood cell counts, along with markedly elevated levels of lactic dehydrogenase and interleukin-6, and exhibited the expression of CD117. R/R AML patients exhibited a higher likelihood of additional chromosome abnormalities (ACAs) besides t(7;11). WT1 and FLT3-ITD were the most commonly found mutated genes, and 10 of those instances showed evidence of the NUP98::HOXA9 fusion gene. The composite complete remission rate was 66.7% (12/18), while the cumulative graft survival rate was 100% (4/4). However, the survival outcomes were dismal. Interestingly, the median overall survival for R/R AML patients was 4.0 months (95% CI: 1.7–6.4). Additionally, the type of AML diagnosis or the presence of ACAs or molecular prognostic stratification did not significantly influence clinical outcomes (p = 0.066, p = 0.585, p = 0.570, respectively).

Conclusion

Myeloid leukemia with t(7;11) exhibits unique clinical features, cytogenetic properties, and molecular genetic characteristics. These survival outcomes were dismal. R/R AML patients have a limited lifespan. For myeloid patients with t(7;11), targeted therapy or transplantation may be an effective course of treatment.

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Background

Recurring genetic variations are crucial for categorizing and assessing patients’ risk with acute myeloid leukemia (AML) [1]. Chromosomal rearrangements of Nucleoporin 98 (NUP98) are uncommon but frequently observed anomalies in AML, with rare instances of myelodysplastic syndromes (MDS) or chronic myelogenous leukemia (CML) [2,3,4,5,6,7,8,9]. Research has explored the prognosis of predominantly AML patients harboring NUP98 gene fusions with diverse fusion partners, such as NSD1, KDM5A, and HOXA9. Reduced overall survival, decreased event-free survival rates, and treatment resistance were often observed in these trials [10,11,12].

The molecular analysis of the t(7;11) breakpoint has unveiled the existence of NUP98, a protein encoded by the Gly-Leu-Phe-Gly (GLFG) nuclear channel protein family at 11p15. Furthermore, it has pinpointed HOXA9, a class I homeodomain protein implicated in myelodifferentiation, situated at 7p15 [2]. The hypothesized role of the NUP9::HOXA9 fusion protein in leukemogenesis of t(7;11) AML is significant. The fusion protein causes leukemia via altering transcriptional regulation and chromatin remodeling. Abnormal transcription factor NUP98::HOXA9 has higher and broader transcriptional activity than wild-type NUP98 or HOXA9. It upregulates HOXA9 and MEIS1 genes, preventing progenitor cells from becoming myeloid [13]. It is believed to influence gene transcription within human hematopoietic precursors, consequently disrupting cell differentiation. This disruption results in a median survival period of 8–13 months [2,3,4,5, 14]. A unique mechanism by which the transcription factor HOXA9 in acute myeloid leukemia (AML) represses gene expression through scaffold attachment factor B (SAFB) protein was discovered [15]. In the mouse model, the NUP98 fusion accurately replicates key features of human disease. These include an enhanced self-renewal of hematopoietic progenitor cells, a suppression of myeloid differentiation, and a high expression of HOXA genes [16,17,18,19,20]. Myeloid leukemia, characterized by t(7;11)(p15;p15), presents a unique entity with distinct clinical and biological attributes. To elucidate the clinical implications of this cytogenetic aberration, we conducted a comprehensive search of our cytogenetics database and yielded 23 patients diagnosed with myeloid neoplasms exhibiting t(7;11)(p15;p15). These neoplasms showed demographics, diagnoses, blast morphology, immunophenotype, chromosome and molecular genetic characteristics, therapy, and clinical outcome.

Materials and methods

Case selection

From January 2017 to December 2023, the cytogenetic databases at the First Affiliated Hospital, College of Medicine, Zhejiang University, were systematically searched for neoplasms exhibiting a t(7;11)(p15;p15) translocation. When t(7;11) was found, clinical, pathological, molecular, therapeutic, and follow-up data were carefully evaluated. This study was conducted strictly according to the principles outlined in the Declaration of Helsinki.

Laboratory data and morphological examination

Laboratory experiments were meticulously conducted, encompassing white blood cell count (WBC), red blood cell count (RBC), hemoglobin (Hb) level, platelet count (PLT), lactic dehydrogenase (LDH) level, interleukin (IL)-6, IL-10, IL-17 A, and the percentage of bone marrow (BM) blasts.

Immunophenotyping

Flow cytometric immunophenotyping of BM aspirates was performed using standard multicolor analysis. The utilized antibody combinations encompassed CD2, CD3, CD4, CD5, CD7, CD13, CD14, CD15, CD19, CD20, CD22, CD25, CD33, CD34, CD36, CD38, CD41, CD45, CD56, CD64, CD117, CD123, HLA-DR, along with myeloperoxidase (MPO) reagents. Samples exhibiting > 20% positive staining of leukemic cells were deemed significant for the marker.

Conventional cytogenetics and gene analysis

For cytogenetic analysis, we conducted chromosomal karyotyping via R-banding utilizing standard methodologies. Subsequently, we adopted the karyotypes by the recommendations set forth by the International Standing Committee on Human Cytogenomic Nomenclature (ISCN 2020), which are currently in effect [21].

The gene mutations were conducted in a subset of patients using next-generation sequencing (NGS) techniques. These included common somatic mutant genes associated with hematological malignancies, which were linked to FLT3-ITD, KRAS, NRAS, KIT, IDH1/2, DNMT3A, EZH2, TET2, ASXL1, WT1, NPM1, GATA2, CEBPA, ETV6, RUNX1, TP53, and other gene mutations (EPPK1, CROOC, ROBO2, MUC16, PBRM1, FBXW7, DDX11, ATRX, CCND3, EP300, KMT2D, STAG2, and BCORL1). Other less frequently employed gene panels for this cohort assessed hot spots in a 6-gene panel (DNMT3a, IDH1, IDH2, SRSF2, U2AF1, and SF3B1). Additionally, some patients utilized reverse transcription-polymerase chain reaction (RT-PCR) or NGS to identify common fusion genes associated with physiological malignancies. The NGS assays were conducted utilizing the Illumina MiSeq sequencer, maintaining a sensitivity of 5%.

Survival analysis

Data processing and analysis were conducted in R, using Zstats v1.0 (www.zstats.net). The Kaplan-Meier method was employed to construct survival curves, and the log-rank test was utilized to evaluate differences in survival. A p-value of less than 0.05 was considered statistically significant. The follow-up deadline is set for March 28, 2024. Overall survival (OS) was determined from the date of t(7;11) detection until death (including death of any cause), censoring, or the end of follow-up. Composite complete remission rates (CRc) comprised CR and CR with incomplete hematological recovery (CRi). Disease-free survival (DFS) time was measured from the date of remission until relapse, death, or last follow-up and was employed exclusively in analyses of patients who attained CRc.

Results

Clinical and laboratory features

Among the 23 patients diagnosed with t(7;11)(p15;p15), 15 were female, and 8 were male. The median age of these patients was 53, ranging from 21 to 74. The comprehensive clinical and laboratory data for these patients were presented in Table 1.

Table 1 Clinical and hematological data
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Among the patients with myeloid neoplasms, nine were newly diagnosed with AML (ND AML) (7 of M2 subtype, 1 of M4 subtype, and 1 of M5 subtype), seven had relapsed refractory AML (R/R AML) (6 of M2 subtype, and 1 of M5 subtype), four presented with MDS (MDS-refractory anemia with excess blasts 2 (RAEB2), MDS-excess blasts 1 (EB1), MDS-multilineage dysplasia (MLD), MDS-EB2 respectively), two had secondary AML (sAML) (1 of MDS-EB1 transformed AML, and 1 of neuroendocrine carcinoma transformed AML) and one had a mixed germinoma with MDS. These patients were identified due to symptoms such as asthenia or fever, abnormal blood routine results, or abnormalities detected during other tumor treatments. The results for cases #1, #2, #6, and #9 correspond to cases #10, #12, #15, and #16 in the initial row. All myeloid patients exhibited RBC and Hb levels below the lower limit of detection. In the myeloid patients who underwent cytokine assays, IL-6 levels exceeded the upper limit of normal detection. Among the ND AML patients, WBC (6/9) and LDH levels (5/9) were elevated while PLT (8/9) was low. Additionally, IL-10 (2/6) and IL-17 A (2/6) exceeded the upper limit of detection. Interestingly, all R/R AML patients were female, exhibiting low WBC count (5/7) and PLT (5/7), high LDH level (4/7), and IL-10 (2/4) and IL-17 A (2/4) levels also exceeded the upper limit of detection. The four MDS patients were all male, presenting with low WBC (3/4), PLT (4/4) below the lower limit of detection, and IL-17 A (3/4) exceeding the upper limit of detection. The percentage of blasts observed in BM aspiration samples ranged from 1 to 86.9%. Additionally, auer rods were identified in five patients.

Immunophenotyping, cytogenetic features and molecular features

Table 2 summarized immunophenotyping and cytogenetic results at t(7;11)(p15;p15) emergence. Flow cytometry immunophenotyped all 23 myeloid patients for CD117. Most patients had CD13, CD33, CD34, CD38, CD123, and HLA-DR. Few patients expressed CD7 and CD64, and fewer expressed CD56.

Table 2 Immunophenotyping and cytogenetic features
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All myeloid patients had a t(7;11)(p15; 15) alone anomaly, a quantity abnormality of + 8, +19, or a structural abnormality of t(2;12), t(2;21), add(6p), der(22q). Ten patients had one or more chromosomal abnormalities (ACAs) with the t(7;11), while 13 had only it. Six of the nine ND AML patients had a pure t(7;11) anomaly, while two had a normal karyotype. One case showed ACAs. ACAs were found in five of seven R/R AML individuals. Two of four MDS patients had ACAs. The two sAML patients had ACAs beyond t(7;11). Figure 1a showed t(7;11)(p15;p15) chromosomal abnormalities. Figure 1b shows the balanced translocation pattern for t(7;11)(p15;p15).

Fig. 1
figure 1

Cytogenetic studies of case #5. a Karyotype shows 46,XX, t(7;11)(p15;p15). b Balanced translocation diagram of t(7;11)(p15;p15)

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For R/R AML patients, CEBPA, NRAS, GATA2, and FLT3-ITD were positive for case #10. CEBPA, TET2, EPPK1, CROOC, ROBO2 were positive for case #12. Case #15 was not genetically analyzed. Case #16 was positive for DNMT3A. In case #11, initial diagnosis molecular and cytogenetic data were lacking for various reasons. Case #13 had FLT3-ITD, WT1, and no mitotic phases. FLT3-ITD often tested negative after treatment-induced remission, although WT1 remained positive. First-relapse genetic and chromosomal testing was not done. After the second recurrence, FLT3-ITD and WT1 showed a t(7;11) translocation. Induction therapy did not remove the t(7;11) translocation. After one chemotherapy treatment with a normal karyotype, FLT3-ITD remained positive. Related allogeneic hematopoietic stem cell transplant followed. Case #14 had an abnormal polyploidy karyotype, no genetic data, and no t(7;11) translocation. However, relapse showed t(7;11) translocation.

The proportion of cases with mutation data available for each gene varied (Fig. 2a). The number of patients tested and mutated for each gene was listed in Supplementary Table S1 online. The most common gene mutation was WT1, found in 71% (10/14) tested patients. In total, 53% (8/15) patients had FLT3-ITD mutations, 38% (6/16) patients had DNMT3A, 38% (5/13) patients had NRAS and TET2 mutations, 50% (1/2) patients had EPPK1, CROOC, ROBO2, MUC16, PBRM1, FBXW7, DDX11, CCND3 mutations. Of 13 patients with simultaneous FLT3-ITD and WT1 testing, 38.5% (5/13) had a concordant positivity.

Fig. 2
figure 2

Molecular features of myeloid diseases with t(7;11)(p15;p15). a Frequency of gene mutation in myeloid leukemia with t(7;11). b Next-generation sequencing (NGS) revealed a breakpoint in exton 11 of NUP98 and a breakpoint in exton 1 of HOXA9 (case #15). c NGS revealed a breakpoint in exton 12 of NUP98 and a breakpoint in exton 1 of (case #4)

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In fusion gene testing, 10 patients had NUP98::HOXA9 fusion gene positive. NGS was used for surveillance in five cases. Specifically, one case of type III included both NUP98 ex.11 and HOXA9 ex.1b (Fig. 2b), while three cases of type I incorporated both NUP98 ex.12 and HOXA9 ex.1b (Fig. 2c). Additionally, another patient (# 16) exhibited a fusion of type I and type III, and this patient also had RUNX1::FBXO11 and NUP98::PR1-170170O19.20 fusion genes. Of the 10 NUP98::HOXA9 genes examined, six patients were positive for WT1. Additionally, four patients had FLT3-ITD and TET2, and three patients had DNMT3A and NRAS.

Treatment and prognosis of patients with t(7;11)(p15;p15)

The specifics of the induction therapy and subsequent follow-up procedures are delineated in Table 3. According to IPSS-R, 60% (3/5) of MDS patients (#17, #18, #20), and one instance (#19), were high risk. A patient with MDS-RAEB2 (#17) passed away while awaiting transplantation; two cases (#18) were lost to follow-up following a return to local treatment; a patient (#19) passed away following a return to local treatment involving traditional Chinese and Western medicine; and a patient (#20) underwent chemotherapy, maintained remission following a relapse, and did not progress to AML after follow-up. Due to their low-risk MDS score, another patient (#23) who presented with a combined germinoma and MDS was treated exclusively for the primary disease.

Table 3 Treatment and outcome
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Out of 21 patients, one (#15), unable to be relieved by induction therapy, stayed in chimeric antigen receptor T cell (CAR-T) therapy and died of recurrent fevers for personal reasons. One ND AML (#8) patient started the clinical study with partial remission, while another R/R AML (#11) patient entered the clinical trial soon before discontinuance owing to disease relapse and got crizotinib bisulfate. Induction chemotherapy included tolerating and non-tolerating intense chemotherapy for the remaining 18 patients. CRc was 66.7% (12/18) (Table 3). 77.8% (7/9) of ND AML patients and 28.6% (2/7) of R/R patients were in remission. Five patients relapsed after induction remission. Three patients (#3, #5, #13) received related hematopoietic stem cell transplantation (HSCT). The patient (#7) had unrelated HSCT. The HSCT survival was 100% (4/4). Post-transplantation follow-up averaged 20.5 months (12.8 to 27.5), and patients were in remission except for rejection episodes.

Three patients were not available for the duration of the follow-up period, resulting in a mean follow-up time of 14.6 months(range 0.4–43.6). The survival outcomes were dismal, and the mean OS was 27.7 months (95% CI: 19.2–36.1), and the mean DFS was 21.5 months (95% CI: 14.1–29.0) (Fig. 3a, b). Notably, the median survival for R/R AML patients was found to be 4.0 months (95% CI: 1.7–6.4). The clinical outcomes exhibited no significant difference based on the type of AML (95% CI: 19.0–38.0, p = 0.066), or the presence of ACAs (95% CI: 19.2–36.1, p = 0.585) (Fig. 3c, d). Despite performing the 2022 ELN molecular prognostic categorization on 15 AML patients (8 ND, 5 R/R, 2 sAML), the change was not statistically significant (95% CI: 0.080–4.059, p = 0.570) (Fig. 3e).

Fig. 3
figure 3

Clinical outcomes in patients with t(7;11)(p15;p15). a Overall survival (OS). b Disease-free survival (DFS). c OS in newly diagnosed (ND) acute myeloid leukemia (AML) patients and relapsed refractory (R/R) AML patients. d OS in karyotype with t(7;11) alone and with other additional chromosome abnormalities (ACAs). e OS in 2022 AML-ELN molecular prognostic stratification

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Discussion

Our findings that AML with the t(7;11)(p15;p15) translocation is exclusively seen in AML, primarily subtype M2, are corroborated by prior studies. LDH levels significantly increased with NUP98 rearrangement, which was more frequent in female and younger individuals and was often seen as multilineage pathological hematopoiesis. CNSL occurs in fewer than 3% of AML, however, our patients with high WBC, LDH, and FLT3 mutations did not develop it, presumably due to the preventive intrathecal injections we delivered as needed during treatment. Additionally, morphologically visible auer bodies were present, and immunophenotyping predominantly identified positive markers for CD13, CD33, CD34, CD38, CD117, CD123, and HLA-DR [4, 22,23,24]. IL-6 levels were similarly increased in t(7;11)(p15;p15) myeloid neoplasm patients. This investigation confirmed previous findings that AML patients overexpress IL-6 [25]. IL-6 levels predict AML event-free survival and treatment resistance [26]. Prior research has suggested that mesenchymal stem cells, derived from AML, foster chemoresistance and epithelial-mesenchymal transition-like pathways in AML via the IL-6/JAK2/STAT3 signaling pathway. The Histone Lysine Demethylase Jumonji Domain (JMJD3) can modulate the proliferation and chemosensitivity of AML cells by elevating the expression of IL-6 [27, 28]. The correlation between IL-6 and this particular patient demographic necessitates further case studies and experimental validation.

FLT3-ITD, WT1, NRAS, KRAS, and CEBPA were the most frequently observed recurring changes with NUP98 rearrangement [29,30,31]. All other parameters were similar in this study’s patients except for KRAS mutation. Our mutation investigation on a small subset of patients corroborated these mutations and DNMT3A, TET2, IDH1, IDH2, and TP53, suggesting NUP98-fusions may interact functionally. These mutations may potentially lead to further genetic alterations in the genesis of leukemia and in conferring a poor response to chemotherapy [10]. 80% (4/5) of R/R AML patients treated differently had positive FLT3-ITD or TP53 testing and could not be relapse-screened. Of 8 ND AML patients (6 of whom were examined for TP53 mutation), 62.5% (5/8) showed positive FLT3-ITD mutation testing but no TP53 mutation. The relapse rate was 37.5% (3/8), including 60% (3/5) of FLT3-ITD mutants. One multicenter study of 230 karyotype normal ND AML patients found 23.9% FLT3-ITD, 0.4% TP53, and 44.7% relapse under identical treatment regimens [32]. Similar to us, FLT3-ITD mutations were found in 7 of 44 AML-CN patients (15.9%) with a 57.1% relapse rate (4/7) [33]. Large-scale molecular genetic data is needed to study t(7;11) prognostic variables.

After identifying t(7;11), this study’s limited data demonstrated that FLT3-ITD positivity at diagnosis changed to negative after treatment-induced remission but positive upon relapse. However, treatment status did not affect the WT1 gene, suggesting it is prognostic. The t(7;11) translocations at diagnosis generally remain unchanged or develop new abnormalities after recurrence, complicating them. Unfortunately, only instance #13 received a karyotype study after relapse, and the t(7;11) translocation disappeared.

In this investigation, only NUP98::HOXA9 was the focus of monitoring. This is in contrast to the previous literature [34], where two novel breakpoints were found in the HOXA11 and HOXA13 genes at the translocation breakpoint within the HOXA cluster on 7p15 in CML or MDS patients with the chromosomal rearrangement t(7;11)(p15:p15). These findings suggest that t(7;11)(p15;p15) chromosomal translocations frequently target HOXA genes and that a single translocation can generate many NUP98::HOXA fusion genes due to aberrant splicing. Furthermore, four distinct fusion transcripts have been documented in prior studies as a result of alternative splicing [10]. Contrarily, our research only discerned type I and type III fusion through sequencing, aligning with the literature [5]. This is likely to be constrained by factors such as the number of cases, molecular heterogeneity, and the variety of disease species.

In 54% of 243 AML cases with chromosome 7 deletion (del(7)) or 7q deletion (del(7q)), TP53 mutations were identified. Del(7q) AML patients exhibited chromosomal abnormalities that affected prognosis and had a 49% CRc after the first induction. The median survival of Venetoclax-treated del(7q) AML patients was 5.8 months, worse than those without Venetoclax. In conclusion, AML patients with del(7) and del(7q) share similar demographic and genetic traits and poor clinical outcomes [35]. In another del(7q) myeloid tumor study, AML with del(7q) was found to be linked to the RUNX1 gene [36]. The median survival of 54 AML/MDS patients with KMT2A mutations was 7.6 months, with TP53 and DNMT3A being the most frequently changed genes [37]. Positive NUP98 fusion AML patients have a worse event-free survival rate and increased recurrence rate [38]. In two Asian adult investigations, 11 patients with t(7;11) (p15;p15)/NUP98::HOXA9 genetic translocation showed a median OS of 13.5 months and a median relapse-free survival of 6 months [4]. Another 17 individuals with t(7;11) (p15;p15) exhibited a median OS of 8 months and DFS of 4 months [5]. Despite our study being based on a relatively small sample size over a brief follow-up interval, the survival outcomes were dismal. It’s interesting to note that R/R AML patients had a median overall survival of 4.0 months. ACAs were observed in about 43.5% of patients, yet patients with t(7;11) alone did not show a better survival advantage, and ACAs imply genomic instability to some extent but have a limited impact on prognosis. The findings from these cohorts suggest that NUP98 rearrangement is probably one of the main factors that significantly affects the prognosis.

Currently, no specific targeted drug or standardized treatment exists for t(7;11)(p15;p15)/NUP98::HOXA9. Patients afflicted with this disease primarily derive benefit from conventional chemotherapy or a combination of chemotherapy and select targeted drugs, albeit to a somewhat limited extent. Only 2 out of 8 FLT3-ITD positive patients who received sorafenib inhibitors during induction therapy survived to the follow-up cutoff with 50% (4/8). Due to retrospective study limitations, all patients may benefit from FLT3 inhibitors, but prospective clinical trials may be needed to confirm. Venetoclax may not be able to achieve better remission in this group of patients, 75% (3/4) did not achieve better remission with Venetoclax at the induction stage, and the only patient who achieved remission relapsed after a period of sustained remission and chose to enter a clinical trial. The majority of patients (66.7%) attained a CRc following the initial induction, which further corroborated the notion that only a partial response to therapy is observed in patients diagnosed with t(7;11). Furthermore, 100% (4/4) of patients who achieved remission following HSCT. A study from Japan indicated that HSCT in CR1 resulted in superior outcomes compared to those in CR2 or high-risk patients (7;11)(p15;p15). However, neither the application of intensive chemotherapy nor HSCT significantly mitigated tumor burden in these patients [39]. Whether the efficacy of HSCT as a therapeutic approach for the disease warrants further investigation. Due to the impact of the donor source, patient age, and the degree of chemotherapy remission, not all patients with this disease are eligible for transplantation treatment. Consequently, there is a consideration to formulate and pinpoint potential targeted therapeutic agents.

Menin-MLL1 inhibition upregulates differentiation markers like CD11b and downregulates pro-leukemia transcription factors like Meis1 in NUP98 fusion-transformed leukemia cells, preventing leukemia in the model [40]. The gene lysine methyltransferase 2 A (KMT2A), once referred to as mixed-lineage leukemia (MLL), and Revumenib, previously referred to as SNDX-5613, are potent, orally administered, selective inhibitors of the menin–KMT2A interaction. This first-in-human phase 1 clinical trial demonstrates that oral administration of Revumenib can effectively treat children and adults with acute leukemias that are highly resistant to treatment, caused by KMT2A rearrangements or NPM1 mutations, leading to long-term remissions from acute leukemia [41]. Panobinostat, a histone deacetylase inhibitor (HDACi), inhibits the human hematopoietic progenitor cells (hHP) model that expresses NUP98::HOXA9 more potently than MLL::AF9 or RUNX1::RUNX1T1. Thus, Revumenib or Panobinostat may be a promising targeted therapy for NUP98::HOXA9-positive AML [42, 43]. Our cohort size of 23 is relatively small and that further larger-scale studies could help confirm or refute the findings in this manuscript.

Conclusion

Myeloid leukemia with t(7;11) exhibits unique clinical features, cytogenetic properties, and molecular genetic characteristics. Targeted therapy or transplantation may serve as an effective treatment strategy for this category.

Data availability

The data is conveyed via charts and accompanying tables within the text. Genetic information in this paper can be observed in the OMIX, China National Center for Bioinformation / Beijing Institute of Genomics, Chinese Academy of Sciences (https://ngdc.cncb.ac.cn/omix/release/OMIX006530). For the purposes of retrieving the original genetic data, kindly reach out to the corresponding author.

Abbreviations

ND AML:

Newly diagnosed acute myeloid leukemia

R/R AML:

Relapsed refractory acute myeloid leukemia

MDS:

Myelodysplastic syndrome

sAML:

Secondary acute myeloid leukemia

MDS-RAEB2:

Myelodysplastic syndrome refractory anemia with excess blasts 2

MDS-EB1:

Myelodysplastic syndrome excess blasts 1

MDS-MLD:

Myelodysplastic syndrome multilineage dysplasia

ACAs:

Additional chromosome abnormalities

OS:

Overall survival

DFS:

Disease-free survival

NGS:

Next-generation sequencing

CRc:

Composite complete remission rates

CRi:

Incomplete hematological recovery

CAR-T:

Chimeric antigen receptor T cell

HSCT:

Hematopoietic stem cell transplantation

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Authors and Affiliations

  1. Department of Hematology, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China

    Lin Liu, Shuqi Zhao, Lu Wang, Huan Xu, Zhimei Chen, Jifang Tu, Jiansong Huang, Jie Jin & Hongyan Tong

  2. Zhejiang Province Key Laboratory of Hematology Oncology, Diagnosis, and Treatment, Hangzhou, China

    Lin Liu, Huan Xu, Zhimei Chen, Jifang Tu, Jiansong Huang, Jie Jin & Hongyan Tong

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  1. Lin Liu
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Contributions

LL, JJ, and HYT contributed to the study conception and design. LL wrote the main manuscript text. SQZ, LW, and JFT prepared Tables 1, 2 and 3. LL, HX, ZMC, and JSH prepared Figs. 1, 2 and 3 and supplementary table S1. JJ and HYT critically revised the manuscript. All authors reviewed the manuscript.

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Correspondence to Jie Jin or Hongyan Tong.

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The study was reviewed and approved by the Ethics Committee of the First Affiliated Hospital of Zhejiang University School of Medicine, the approval number is No. 0324. This project was deemed exempt from the requirement for informed consent, which was approved by Ethics Committee of the First Affiliated Hospital of Zhejiang University School of Medicine.

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Liu, L., Zhao, S., Wang, L. et al. Clinical features and prognosis of patients with myeloid neoplasms harboring t(7;11)(p15;p15) translocation: a single-center retrospective study. BMC Cancer 24, 955 (2024). https://doi.org/10.1186/s12885-024-12679-8

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BMC Cancer

ISSN: 1471-2407

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