RARE DISEASE
Myelodysplastic neoplasm with increased blasts type 2
Myelodysplastic neoplasm with increased blasts type 2
Myelodysplastic neoplasm with increased blasts type 2
Synonyms: MDS-IB2, RAEB-2, Refractory anemia with excess blasts type 2
Synonyms: MDS-IB2, RAEB-2, Refractory anemia with excess blasts type 2
Synonyms: MDS-IB2, RAEB-2, Refractory anemia with excess blasts type 2
Drug discovery
0
drugs
With orphan designations
Overview
Myelodysplastic neoplasm with increased blasts type 2 (MDS-EB-2) is a high-risk subtype characterized by 10-19% bone marrow blasts or 5-19% peripheral blood blasts, multilineage dysplasia, and frequent cytopenias [1][5][9]. It carries a median survival of 12-18 months, with 30-40% progressing to acute myeloid leukemia (AML) [9][18]. Diagnosis requires exclusion of AML and confirmation through cytogenetic/molecular testing [5][12].
Categories: rare hematological diseases, rare neoplastic diseases, rare transplant-related disorders
Research Papers
360 drug discovery papers about Myelodysplastic neoplasm with increased blasts type 2, with 2 first-in-class emerging drug candidates forecasted to outperform the average preclinical success rate. Recent publications:
360 drug discovery papers about Myelodysplastic neoplasm with increased blasts type 2, with 2 first-in-class emerging drug candidates forecasted to outperform the average preclinical success rate. Recent publications:
2026-07-14 | Venetoclax combined with azacitidine in the treatment of secondary myelodysplastic syndrome following multiple myeloma: a case report and literature review
We conducted a retrospective analysis of the clinical data of a patient with myelodysplastic syndrome (MDS) secondary to stable multiple myeloma (MM), who was treated with a combination of venetoclax and azacitidine at the Fifth People's Hospital of Chengdu. Additionally, we reviewed the relevant literature. The patient, a 74-year-old male, was initially diagnosed with multiple myeloma (IgA-γ, DS IIIA, ISS III, R-ISS II) and achieved a very good partial response (VGPR) following sequential treatments with BCTD, RVD, and PVD regimens, subsequently receiving maintenance therapy with pomalidomide. Despite being in continuous remission, the patient developed secondary myelodysplastic syndrome characterized by refractory anemia with excess blasts-2 (MDS-RAEB-II) 51 months post-initial MM diagnosis. He was then treated with venetoclax in combination with azacitidine. After the first treatment course, the patient achieved morphological partial remission of MDS. However, due to non-adherence to continuous treatment, he ultimately succumbed to a secondary infection.
2026-05-06 | Case Report: Use of mirvetuximab soravtansine in a patient with platinum-resistant ovarian cancer and concomitant PARP-inhibitor-related myelodysplastic syndrome.
Response rates in platinum-resistant ovarian cancer remain low (16-30%) and decline with subsequent lines of therapy. Mirvetuximab soravtansine (MIRV), an antibody-drug conjugate targeting folate receptor alpha (FRα), has demonstrated clinically meaningful activity in FRα-positive disease. We report a 65-year-old patient with heavily pretreated, FRα-positive ovarian cancer who developed therapy-related myelodysplastic syndrome with increased blasts (MDS-IB2, DNMT3A-mutated) during therapy with MIRV in combination with carboplatin having received prior PARPi maintenance therapy. Azacitidine treatment induced complete hematologic remission. Following progression of the ovarian cancer disease, MIRV was reintroduced concurrently with ongoing azacitidine. This strategy resulted in seven months of sustained disease control of the ovarian cancer without evidence of MDS worsening. In fact, after three cycles of azacitidine, a follow-up bone marrow biopsy showed no residual MDS. This case demonstrates that MIRV can be safely and effectively administered alongside azacitidine, providing clinically meaningful tumor control without compromising hematologic outcomes. These findings support the concurrent management of ovarian cancer and therapy-related MDS as a viable and underutilized treatment approach in a highly challenging clinical setting.
2026-04-21 | Survival of myelodysplastic syndrome patients after azacitidine therapy.
BACKGROUND: Although azacitidine monotherapy improves survival in myelodysplastic (MDS) patients, various outcomes have been found regarding cytogenetic and molecular features. METHODS: This retrospective analysis of 80 Thai patients with MDS treated with azacitidine monotherapy evaluated real-world outcomes in Thailand and identified clinical parameters associated with treatment response and survival. Azacitidine was given at 100 mg/day for 7 days, every 28-day cycle. Targeted exome analysis of 25 genes was performed, using a QIAact Myeloid DNA UMI Panel with GeneReader next generation sequencing system. RESULTS: MDS with increased blasts (IB) and low blasts (LB) were observed in 64% and 20%, respectively. The median number of cycles of azacitidine therapy was 11 cycles. The ORR was 59%, patients with MDS-IB2 had the highest ORR (71%) compared to those with MDS-IB1 (47%) or MDS-LB (41%), p = 0.029. A significantly lower ORR was found for MDS patients (27%) with complex karyotypes (CKs), p = 0.016. MDS patients with poor/very poor risk cytogenetics had significantly lower ORR than those without poor/very poor risk cytogenesis 37% versus 65%, p = 0.039. MDS patients with mutated TET2 had lower ORR than those with wild-type TET2, 17% vs. 62% (p = 0.041). The median OS in patients with MDS was 19 months. The median OS was shorter in MDS patients with CKs (p = 0.003), intermediate/higher-risk IPSS-R (p = 0.046), poor- cytogenetic risks (p = 0.028), RUNX1 (p = 0.047) or transcription factor (TF) gene mutations (p = 0.011) than those without CKs, poor risk cytogenetics, RUNX1 and TF gene mutation. CONCLUSIONS: Complex karyotype was associated with poor ORR in MDS patients receiving azacitidine monotherapy, therefore, these patients need to be treated with the combination therapy or other treatment regimens rather than azacitidine monotherapy. CKs, intermediate/higher-risk IPSS-R, poor-cytogenetic risks, mutated RUNX1 and transcription factor gene mutations were associated with poor OS in MDS patients.
2025-11-26 | PO:21:028 | A difficult case of VEXAS syndrome: management of myelodysplastic syndrome associated with systemic inflammation and infectious complications
Background. This work describes a clinical case of VEXAS syndrome associated with myelodysplastic neoplasm, aiming to highlight the clinical and diagnostic features and the importance of a multidisciplinary approach to optimize treatment and improve the patient's prognosis. Materials and Methods. A 57-year-old male, with a medical history of type 2 diabetes and hypertension, presented between March and June 2024 with marked fatigue, migratory arthralgia in the lower limbs, subcutaneous nodules, an episode of left ear chondritis, and a 20 kg weight loss over 6 months, without fever or apparent infections. Laboratory findings included macrocytic anemia (Hb 6.8 g/dL, MCV 108 fl), without hemolysis, leukocytopenia (WBC 2270/mm³, PMN 1170/mm³), hyperferritinemia (842 µg/L), CRP 111 mg/L, and polyclonal hypergammaglobulinemia. Autoimmune markers (ANA, ENA, ANCA) and HCV/HBV serology were negative. CT scans of the head, chest, and abdomen (August 2024) revealed hepatosplenomegaly. In September, the patient developed a fever with chills, further weight loss, and petechiae at the base of all limbs. PET-CT showed increased lymph node, splenic, and skeletal uptake, while bone marrow biopsy identified myelodysplastic syndrome of the RAEB II subtype, with high IPSS and R-IPSS scores. Microscopic examination noted cytoplasmic vacuoles in granulocytes and blasts. VEXAS syndrome was confirmed by genetic testing identifying a mutation in the UBA1 gene (c.121A>G p.(Met41Val)). The treatment regimen included corticosteroids (methylprednisolone 1 mg/kg/day), with azacitidine as a bridge to transplant. Results. During follow-up, the patient showed a satisfactory clinical and laboratory response to steroid and antineoplastic drugs, with normalization of inflammatory markers, blood count, and regression of clinical manifestations. In January 2025, he was hospitalized for influenza A pneumonia during neutropenia and treated with antivirals, antibiotics, and corticosteroids. The steroid dose was tapered to 10 mg/day of prednisone, maintaining satisfactory clinical and laboratory control. A follow-up chest CT (3 months later) revealed persistent fibrotic changes and ground-glass opacities, consistent with an inflammatory pattern related to the syndrome. Azacitidine therapy resulted in partial remission, and the option of allogeneic stem cell transplantation was contemplated owing to the patient's youth and the poor prognosis linked to myelodysplasia. Conclusions. This case underscores the importance of early recognition of VEXAS syndrome, a rare autoinflammatory disorder that combines systemic inflammatory and hematological manifestations. Genetic diagnosis is essential for confirming the diagnosis and guiding treatment. A multidisciplinary approach, involving immunosuppressive therapy and consideration of allogeneic stem cell transplantation, is the most promising strategy to improve patient’s prognosis. Close clinical and radiological monitoring is crucial to manage infectious and inflammatory complications, optimizing the therapeutic choice and the patient's quality of life.
2025-11-03 | Survival outcomes and mortality-to-incidence ratio (MIR) in refractory anemia with excess blasts: A retrospective overview
Abstract Introduction Myelodysplastic syndrome (MDS) is a heterogeneous clonal disorder of hematopoietic stem cells characterized by dysplasia and restricted maturation resulting in ineffective hematopoiesis and peripheral blood cytopenias. Refractory anemia with excess blasts (RAEB) is a subtype of MDS, defined by the presence of 2%-19% blasts in peripheral blood or 5%-19% blasts in the bone marrow. The purpose of this study is to determine the racial and gender disparities and survival trends in patients with RAEB. Methods We collected RAEB cases from Surveillance, Epidemiology and End Result database Research Plus Data, 17 Registries, Nov 2024 Sub (2000-2022), using the ICD Code 9983/3. The analysis was further stratified based on age, sex, race, year of diagnosis, income, demography and treatment with chemotherapy and radiation therapy. Survival curves were then compared using the Log-Rank test (GraphPad Prism). Results We extracted 12155 cases of refractory anemia with excess blasts. The median age of diagnosis was 74 years. 60.7% of the cases were males, while only 39.3% were females. The neoplasm was most noted in Caucasians (77.1%) and then Hispanics (8.4%), Asians/Pacific Islanders (7.2%), Black (6.6%) and Alaskans/American Indians and unknown race <1% each. Overall median of survival (MoS) was 11 months, with a 1-year OS of 47.4% (CI 95%, 46.5-48.3), 3-year OS of 18.1% (CI 95%, 17.4-18.8), and 5-year OS of 10.97% (CI 95%, 10.4-11.6). MoS were significant for Age: 0-65 years (16 months), 65+ years (10 months) (p <0.0001); Race: Caucasians (11 months), Black (11 months), Hispanics (12 months), Asian/Pacific Islanders (13 months), Alaskan/Native Americans (15 months) (p <0.0001); Income: less than 40,000$ - 70,000$ (10 months), 70K-100K (11 months), 100K+ (14 months); Demography: residents in a metropolitan area (12 months) vs non-metropolitan area (10 months) (p value 0.0003). Treatment based survival analysis showed: chemotherapy (14 months) vs no chemotherapy (8 months) (p <0.0001), XRT (27 months) vs no XRT (11 months). Survival analyses based on gender was insignificant. Mortality-to-Incidence Ratio (MIR) trend was notable for 2000-2005 (96.6%), 2006-2011 (95.5%), 2012-2016 (92.2%), and 2017-2022 (69.3%) (p 0.0001, Logrank test for trend). Conclusion Refractory anemia with excess blasts is a subtype of MDS with a very high mortality. Our analysis revealed that it favors male gender, and Caucasian race. Superior survival outcomes were observed with age less than 65, Asian/Pacific Islanders or Alaskan/Native Americans origin, income above 100K and metropolitan residence. Management with chemotherapy or radiotherapy were also associated with higher survival. No significant association was noted with gender. Further research and analysis is warranted to identify specific targetable mutations to help improve overall survival in this aggressive hematologic malignancy.
2026-07-14 | Venetoclax combined with azacitidine in the treatment of secondary myelodysplastic syndrome following multiple myeloma: a case report and literature review
We conducted a retrospective analysis of the clinical data of a patient with myelodysplastic syndrome (MDS) secondary to stable multiple myeloma (MM), who was treated with a combination of venetoclax and azacitidine at the Fifth People's Hospital of Chengdu. Additionally, we reviewed the relevant literature. The patient, a 74-year-old male, was initially diagnosed with multiple myeloma (IgA-γ, DS IIIA, ISS III, R-ISS II) and achieved a very good partial response (VGPR) following sequential treatments with BCTD, RVD, and PVD regimens, subsequently receiving maintenance therapy with pomalidomide. Despite being in continuous remission, the patient developed secondary myelodysplastic syndrome characterized by refractory anemia with excess blasts-2 (MDS-RAEB-II) 51 months post-initial MM diagnosis. He was then treated with venetoclax in combination with azacitidine. After the first treatment course, the patient achieved morphological partial remission of MDS. However, due to non-adherence to continuous treatment, he ultimately succumbed to a secondary infection.
2026-05-06 | Case Report: Use of mirvetuximab soravtansine in a patient with platinum-resistant ovarian cancer and concomitant PARP-inhibitor-related myelodysplastic syndrome.
Response rates in platinum-resistant ovarian cancer remain low (16-30%) and decline with subsequent lines of therapy. Mirvetuximab soravtansine (MIRV), an antibody-drug conjugate targeting folate receptor alpha (FRα), has demonstrated clinically meaningful activity in FRα-positive disease. We report a 65-year-old patient with heavily pretreated, FRα-positive ovarian cancer who developed therapy-related myelodysplastic syndrome with increased blasts (MDS-IB2, DNMT3A-mutated) during therapy with MIRV in combination with carboplatin having received prior PARPi maintenance therapy. Azacitidine treatment induced complete hematologic remission. Following progression of the ovarian cancer disease, MIRV was reintroduced concurrently with ongoing azacitidine. This strategy resulted in seven months of sustained disease control of the ovarian cancer without evidence of MDS worsening. In fact, after three cycles of azacitidine, a follow-up bone marrow biopsy showed no residual MDS. This case demonstrates that MIRV can be safely and effectively administered alongside azacitidine, providing clinically meaningful tumor control without compromising hematologic outcomes. These findings support the concurrent management of ovarian cancer and therapy-related MDS as a viable and underutilized treatment approach in a highly challenging clinical setting.
2026-04-21 | Survival of myelodysplastic syndrome patients after azacitidine therapy.
BACKGROUND: Although azacitidine monotherapy improves survival in myelodysplastic (MDS) patients, various outcomes have been found regarding cytogenetic and molecular features. METHODS: This retrospective analysis of 80 Thai patients with MDS treated with azacitidine monotherapy evaluated real-world outcomes in Thailand and identified clinical parameters associated with treatment response and survival. Azacitidine was given at 100 mg/day for 7 days, every 28-day cycle. Targeted exome analysis of 25 genes was performed, using a QIAact Myeloid DNA UMI Panel with GeneReader next generation sequencing system. RESULTS: MDS with increased blasts (IB) and low blasts (LB) were observed in 64% and 20%, respectively. The median number of cycles of azacitidine therapy was 11 cycles. The ORR was 59%, patients with MDS-IB2 had the highest ORR (71%) compared to those with MDS-IB1 (47%) or MDS-LB (41%), p = 0.029. A significantly lower ORR was found for MDS patients (27%) with complex karyotypes (CKs), p = 0.016. MDS patients with poor/very poor risk cytogenetics had significantly lower ORR than those without poor/very poor risk cytogenesis 37% versus 65%, p = 0.039. MDS patients with mutated TET2 had lower ORR than those with wild-type TET2, 17% vs. 62% (p = 0.041). The median OS in patients with MDS was 19 months. The median OS was shorter in MDS patients with CKs (p = 0.003), intermediate/higher-risk IPSS-R (p = 0.046), poor- cytogenetic risks (p = 0.028), RUNX1 (p = 0.047) or transcription factor (TF) gene mutations (p = 0.011) than those without CKs, poor risk cytogenetics, RUNX1 and TF gene mutation. CONCLUSIONS: Complex karyotype was associated with poor ORR in MDS patients receiving azacitidine monotherapy, therefore, these patients need to be treated with the combination therapy or other treatment regimens rather than azacitidine monotherapy. CKs, intermediate/higher-risk IPSS-R, poor-cytogenetic risks, mutated RUNX1 and transcription factor gene mutations were associated with poor OS in MDS patients.
2025-11-26 | PO:21:028 | A difficult case of VEXAS syndrome: management of myelodysplastic syndrome associated with systemic inflammation and infectious complications
Background. This work describes a clinical case of VEXAS syndrome associated with myelodysplastic neoplasm, aiming to highlight the clinical and diagnostic features and the importance of a multidisciplinary approach to optimize treatment and improve the patient's prognosis. Materials and Methods. A 57-year-old male, with a medical history of type 2 diabetes and hypertension, presented between March and June 2024 with marked fatigue, migratory arthralgia in the lower limbs, subcutaneous nodules, an episode of left ear chondritis, and a 20 kg weight loss over 6 months, without fever or apparent infections. Laboratory findings included macrocytic anemia (Hb 6.8 g/dL, MCV 108 fl), without hemolysis, leukocytopenia (WBC 2270/mm³, PMN 1170/mm³), hyperferritinemia (842 µg/L), CRP 111 mg/L, and polyclonal hypergammaglobulinemia. Autoimmune markers (ANA, ENA, ANCA) and HCV/HBV serology were negative. CT scans of the head, chest, and abdomen (August 2024) revealed hepatosplenomegaly. In September, the patient developed a fever with chills, further weight loss, and petechiae at the base of all limbs. PET-CT showed increased lymph node, splenic, and skeletal uptake, while bone marrow biopsy identified myelodysplastic syndrome of the RAEB II subtype, with high IPSS and R-IPSS scores. Microscopic examination noted cytoplasmic vacuoles in granulocytes and blasts. VEXAS syndrome was confirmed by genetic testing identifying a mutation in the UBA1 gene (c.121A>G p.(Met41Val)). The treatment regimen included corticosteroids (methylprednisolone 1 mg/kg/day), with azacitidine as a bridge to transplant. Results. During follow-up, the patient showed a satisfactory clinical and laboratory response to steroid and antineoplastic drugs, with normalization of inflammatory markers, blood count, and regression of clinical manifestations. In January 2025, he was hospitalized for influenza A pneumonia during neutropenia and treated with antivirals, antibiotics, and corticosteroids. The steroid dose was tapered to 10 mg/day of prednisone, maintaining satisfactory clinical and laboratory control. A follow-up chest CT (3 months later) revealed persistent fibrotic changes and ground-glass opacities, consistent with an inflammatory pattern related to the syndrome. Azacitidine therapy resulted in partial remission, and the option of allogeneic stem cell transplantation was contemplated owing to the patient's youth and the poor prognosis linked to myelodysplasia. Conclusions. This case underscores the importance of early recognition of VEXAS syndrome, a rare autoinflammatory disorder that combines systemic inflammatory and hematological manifestations. Genetic diagnosis is essential for confirming the diagnosis and guiding treatment. A multidisciplinary approach, involving immunosuppressive therapy and consideration of allogeneic stem cell transplantation, is the most promising strategy to improve patient’s prognosis. Close clinical and radiological monitoring is crucial to manage infectious and inflammatory complications, optimizing the therapeutic choice and the patient's quality of life.
2025-11-03 | Survival outcomes and mortality-to-incidence ratio (MIR) in refractory anemia with excess blasts: A retrospective overview
Abstract Introduction Myelodysplastic syndrome (MDS) is a heterogeneous clonal disorder of hematopoietic stem cells characterized by dysplasia and restricted maturation resulting in ineffective hematopoiesis and peripheral blood cytopenias. Refractory anemia with excess blasts (RAEB) is a subtype of MDS, defined by the presence of 2%-19% blasts in peripheral blood or 5%-19% blasts in the bone marrow. The purpose of this study is to determine the racial and gender disparities and survival trends in patients with RAEB. Methods We collected RAEB cases from Surveillance, Epidemiology and End Result database Research Plus Data, 17 Registries, Nov 2024 Sub (2000-2022), using the ICD Code 9983/3. The analysis was further stratified based on age, sex, race, year of diagnosis, income, demography and treatment with chemotherapy and radiation therapy. Survival curves were then compared using the Log-Rank test (GraphPad Prism). Results We extracted 12155 cases of refractory anemia with excess blasts. The median age of diagnosis was 74 years. 60.7% of the cases were males, while only 39.3% were females. The neoplasm was most noted in Caucasians (77.1%) and then Hispanics (8.4%), Asians/Pacific Islanders (7.2%), Black (6.6%) and Alaskans/American Indians and unknown race <1% each. Overall median of survival (MoS) was 11 months, with a 1-year OS of 47.4% (CI 95%, 46.5-48.3), 3-year OS of 18.1% (CI 95%, 17.4-18.8), and 5-year OS of 10.97% (CI 95%, 10.4-11.6). MoS were significant for Age: 0-65 years (16 months), 65+ years (10 months) (p <0.0001); Race: Caucasians (11 months), Black (11 months), Hispanics (12 months), Asian/Pacific Islanders (13 months), Alaskan/Native Americans (15 months) (p <0.0001); Income: less than 40,000$ - 70,000$ (10 months), 70K-100K (11 months), 100K+ (14 months); Demography: residents in a metropolitan area (12 months) vs non-metropolitan area (10 months) (p value 0.0003). Treatment based survival analysis showed: chemotherapy (14 months) vs no chemotherapy (8 months) (p <0.0001), XRT (27 months) vs no XRT (11 months). Survival analyses based on gender was insignificant. Mortality-to-Incidence Ratio (MIR) trend was notable for 2000-2005 (96.6%), 2006-2011 (95.5%), 2012-2016 (92.2%), and 2017-2022 (69.3%) (p 0.0001, Logrank test for trend). Conclusion Refractory anemia with excess blasts is a subtype of MDS with a very high mortality. Our analysis revealed that it favors male gender, and Caucasian race. Superior survival outcomes were observed with age less than 65, Asian/Pacific Islanders or Alaskan/Native Americans origin, income above 100K and metropolitan residence. Management with chemotherapy or radiotherapy were also associated with higher survival. No significant association was noted with gender. Further research and analysis is warranted to identify specific targetable mutations to help improve overall survival in this aggressive hematologic malignancy.
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