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Zhu YJ, Ma XY, Hao YL, Guan Y. Myelodysplastic syndrome transformed into B-lineage acute lymphoblastic leukemia: A case report. World J Clin Cases 2021; 9:5191-5196. [PMID: 34307566 PMCID: PMC8283593 DOI: 10.12998/wjcc.v9.i19.5191] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/17/2020] [Revised: 04/06/2021] [Accepted: 05/08/2021] [Indexed: 02/06/2023] Open
Abstract
BACKGROUND Myelodysplastic syndromes (MDSs) are a group of hematological diseases caused by expansion of an abnormal clone of hematopoietic stem cells. Primary MDS is a potentially premalignant clonal disorder that may progress to overt acute leukemia in 25%-50% of cases. However, most of these cases evolve into acute myeloid leukemia and rarely progress to acute lymphoblastic leukemia (ALL). Thus, transformation of MDS into B-cell ALL is rare.
CASE SUMMARY A 58-year-old man was admitted to the hospital for reduced blood cell counts. Based on all the test results and the World Health Organization diagnosis and classification, the patient was finally diagnosed with ring-shaped sideroblastic MDS with refractory hemocytopenia due to multilineage dysplasia. We used red blood cell transfusions and other symptomatic support treatments. After 4 years, the patient felt dizziness, fatigue, and night sweats. We improved bone marrow and peripheral blood and other related auxiliary examinations. He was eventually diagnosed with B-lineage acute lymphocytic leukemia (MDS transformation).
CONCLUSION The number of peripheral blood cells, type of MDS, proportion of primitive cells in bone marrow, and number and quality of karyotypes are all closely related to the conversion of MDS to ALL.
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Affiliation(s)
- Ye-Jing Zhu
- Department of Clinical Medicine, Clinical College of Jining Medical University, Jining 272000, Shandong Province, China
| | - Xiang-Yu Ma
- Department of Science and Education, People's Hospital of Rizhao, Rizhao 276800, Shandong Province, China
| | - Yun-Liang Hao
- Department of Hematology, Jining First People’s Hospital, Jining 272000, Shandong Province, China
| | - Yun Guan
- Department of Hematology, Jining First People’s Hospital, Jining 272000, Shandong Province, China
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Martins F, Kruszewski M, Scarpelli I, Schoumans J, Spertini O, Lübbert M, Blum S. Characterization of myelodysplastic syndromes progressing to acute lymphoblastic leukemia. Ann Hematol 2020; 100:63-78. [PMID: 32556451 DOI: 10.1007/s00277-020-04114-2] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/13/2020] [Accepted: 06/01/2020] [Indexed: 12/17/2022]
Abstract
Myelodysplastic syndromes (MDS) are a heterogeneous group of diseases, with a variable probability of transformation into acute leukemia, which is, in the vast majority of cases, of myeloid lineage. Nevertheless, rare cases of acute lymphoblastic leukemia in patients with previously diagnosed MDS have been reported. We describe a series of 3 cases of MDS/CMML marked with evolution to acute lymphoblastic leukemia (ALL) and provide a comprehensive review of the 49 cases documented in the literature so far. These sporadic events have only been published as single-case reports or small series to date. Such atypical cases emphasize the possibility of major phenotypic switches arising at the leukemic stem cell (LSC) and/or early progenitor levels, as a consequence of epigenetic and genomic events driving these changes in the bone marrow niche.
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Affiliation(s)
- Filipe Martins
- Centre Hospitalier Universitaire Vaudois (CHUV), Hematology Service and Central laboratory, Oncology department, Rue du Bugnon 46, Lausanne, CH-1011, Switzerland. .,Service and Central Laboratory of Hematology, Department of Oncology and Department of Laboratory Medicine and Pathology, Lausanne University Hospital (CHUV), Rue du Bugnon 46, Lausanne, CH-1011, Switzerland. .,School of Life Sciences, Laboratory of Virology and Genetics, Swiss Federal Institute of Technology Lausanne (EPFL), Station 19, CH-1015, Lausanne, Switzerland.
| | - Michael Kruszewski
- Internal Medicine 1, Hematology, Oncology and Stem Cell Transplantation, Faculty of Medicine, University Hospital Freiburg, Hugstetter Straße 55, 79106, Freiburg, Germany
| | - Ilaria Scarpelli
- Oncogenomic Laboratory, Hematology Service, Department of Laboratory Medicine and Pathology, Lausanne University Hospital (CHUV), Rue du Bugnon 46, Lausanne, CH-1011, Switzerland
| | - Jacqueline Schoumans
- Oncogenomic Laboratory, Hematology Service, Department of Laboratory Medicine and Pathology, Lausanne University Hospital (CHUV), Rue du Bugnon 46, Lausanne, CH-1011, Switzerland
| | - Olivier Spertini
- Service and Central Laboratory of Hematology, Department of Oncology and Department of Laboratory Medicine and Pathology, Lausanne University Hospital (CHUV), Rue du Bugnon 46, Lausanne, CH-1011, Switzerland.,Oncogenomic Laboratory, Hematology Service, Department of Laboratory Medicine and Pathology, Lausanne University Hospital (CHUV), Rue du Bugnon 46, Lausanne, CH-1011, Switzerland
| | - Michael Lübbert
- Internal Medicine 1, Hematology, Oncology and Stem Cell Transplantation, Faculty of Medicine, University Hospital Freiburg, Hugstetter Straße 55, 79106, Freiburg, Germany
| | - Sabine Blum
- Service and Central Laboratory of Hematology, Department of Oncology and Department of Laboratory Medicine and Pathology, Lausanne University Hospital (CHUV), Rue du Bugnon 46, Lausanne, CH-1011, Switzerland.
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3
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Guo ZP, Tan YH, Li JL, Xu ZF, Chen XH, Xu LR. Acute pro-B-Cell lymphoblastic leukemia transformed from myelodysplastic syndrome with an ASXL1 missense mutation: A case report with literature review. Oncol Lett 2018; 15:9745-9750. [PMID: 29805685 PMCID: PMC5958712 DOI: 10.3892/ol.2018.8546] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/30/2017] [Accepted: 04/13/2018] [Indexed: 01/23/2023] Open
Abstract
The development of acute lymphoblastic leukemia (ALL) from myelodysplastic syndrome (MDS) is a very rare event. The current report presents a rare case of a 33-year-old man who was diagnosed with MDS with multiple-lineage dysplasia (MDS-MLD) that transformed into pro-B-ALL. A missense mutation (S1231F) of the additional sex combs like 1, transcriptional regulator gene was identified, which may have a substantial role in the progression, however does not act as an unfavorable prognostic marker. The patient died during induction chemotherapy. The present study further conducted an analysis on 30 patients to determine progression to ALL. Patients were predominantly male (76.7%, 23/30) with a median age of 56 years (3-90 years). The median time to transformation was 5.5 months (2-50 months). The most common type of MDS with ALL transformation comprised of MDS-excess blasts (MDS-EB; 40%, 12/30), MDS with single-lineage dysplasia (MDS-SLD; 30%, 9/30) and MDS with ring sideroblasts (MDS-RS; 16.7%, 5/30). The majority of the patients transformed to B-cell (66.7%, 16/24) followed by T-cell (33.3%, 8/24) ALL. From the 25 cases where data was available, the complete remission rate was 75% (15/20) with ALL-directed chemotherapy and the median remission duration was 15 months (range 4.5 to 51 months). However, the results indicated that ALL following MDS is characterized by a high rate of early death (20%, 5/25).
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Affiliation(s)
- Zhi-Ping Guo
- Department of Hematology, The Second Hospital of Shanxi Medical University, Taiyuan, Shanxi 030001, P.R. China
| | - Yan-Hong Tan
- Department of Hematology, The Second Hospital of Shanxi Medical University, Taiyuan, Shanxi 030001, P.R. China
| | - Jian-Lan Li
- Department of Hematology, The Second Hospital of Shanxi Medical University, Taiyuan, Shanxi 030001, P.R. China
| | - Zhi-Fang Xu
- Department of Hematology, The Second Hospital of Shanxi Medical University, Taiyuan, Shanxi 030001, P.R. China
| | - Xiu-Hua Chen
- Department of Hematology, The Second Hospital of Shanxi Medical University, Taiyuan, Shanxi 030001, P.R. China
| | - Lian-Rong Xu
- Department of Hematology, The Second Hospital of Shanxi Medical University, Taiyuan, Shanxi 030001, P.R. China
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Myelodysplastic syndrome with myelofibrosis transformed to a precursor B-cell acute lymphoblastic leukemia: a case report with review of the literature. Case Rep Hematol 2012; 2012:207537. [PMID: 22937321 PMCID: PMC3420696 DOI: 10.1155/2012/207537] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/08/2011] [Accepted: 01/15/2012] [Indexed: 11/29/2022] Open
Abstract
Myelodysplastic syndromes (MDS) comprise a group of heterogeneous clonal hematopoietic cell disorders characterized by cytopenias, bone marrow hypercellularity, and increased risk of transformation to acute leukemias. MDS usually transformed to acute myeloid leukemia, and transformation to acute lymphoblastic leukemia (ALL) is rare. Herein, we report a unique patient who presented with MDS with myelofibrosis. Two months after the initial diagnosis, she progressed to a precursor B-cell acute lymphoblastic leukemia. She was treated with induction therapy followed by allogenic stem cell transplantation. She was alive and doing well upon last followup. We have also reviewed the literature and discussed the clinicopathologic features of 36 MDS patients who progressed to ALL reported in the literature.
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Serefhanoglu S, Goker H, Buyukasik Y, Sayinalp N, Ozcebe OI. Transformation of adult myelodysplastic syndrome-refractory anemia to acute T-cell lymphoblastic leukemia. J Natl Med Assoc 2009; 101:370-2. [PMID: 19397230 DOI: 10.1016/s0027-9684(15)30887-7] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/22/2022]
Abstract
OBJECTIVE Myelodysplastic syndrome (MDS) is recognized as a preleukemic disorder with a variable risk of transformation to acute myeloid leukemia. Usually the blast cells in leukemia are transformed after MDS displays a myeloid phenotype. Lymphoid progression had been reported as myeloid-lymphoid hybrid or early B phenotype, but our patient transformed acute T-lymphoblastic leukemia, which is a rare lymphoid transformation. CLINICAL PRESENTATION AND INTERVENTION We present a case of refractory anemia with excess of blast that transformed into acute T-cell lymphoblastic leukemia. MDS was diagnosed in a 69-year-old man in April 2007. Twelve month later, he developed T-acute lymphoblastic leukemia. The blasts were positive for expression of CD2, CD3, CD5, CD7, CD45, and HLA-DR, leading to a diagnosis of T-lymphoblastic leukemia. The patient was treated with chemotherapy, but he died of multiple organ failure. CONCLUSION The mechanism of lymphoid transformation is not yet fully understood. This case clinically supports the nature of MDS as a pluripotent hematopoietic stem cell disorder. MDS often transforms into acute leukemia, usually of a myeloid phenotype. The transformation of MDS into acute lymphoblastic leukemia is extremely rare.
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Affiliation(s)
- Songul Serefhanoglu
- Department of Internal Medicine, Division of Hematology, Hacettepe University Medical School, Ankara, Turkey.
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6
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Sato N, Nakazato T, Kizaki M, Ikeda Y, Okamoto S. Transformation of Myelodysplastic Syndrome to Acute Lymphoblastic Leukemia: A Case Report and Review of the Literature. Int J Hematol 2004; 79:147-51. [PMID: 15005342 DOI: 10.1532/ijh97.03137] [Citation(s) in RCA: 22] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/17/2023]
Abstract
Myelodysplastic syndrome (MDS) often transforms into acute leukemia, usually of a myeloid phenotype. However, the transformation of MDS into acute lymphoblastic leukemia (ALL) is extremely rare. We present a case of refractory anemia with excess of blasts (RAEB) that transformed into ALL. MDS (RAEB) was diagnosed in a 68-year-old Japanese woman in August 2001. Two months later, MDS progressed to erythroleukemia (French-American-British [FAB]classification, acute myeloid leukemia [AML]-M6), and in December, 2001, she was treated with combined chemotherapy containing aclarubicin, cytarabine, and granulocyte colony-stimulating factor, which improved her clinical symptoms. However, 1 month after the chemotherapy, she developed ALL. The blasts at that time had a markedly basophilic cytoplasm with multiple cytoplasmic vacuoles, and their morphology mimicked that of ALL-L3. The blasts also expressed CD13, a myeloid marker, in addition to lymphoid markers. Southern-blot analysis revealed rearrangement of the immunoglobulin heavy chain, but no additional chromosomal abnormality characteristic of ALL-L3 was detected. The patient was treated with chemotherapy, but she developed tumor lysis syndrome and died of multiple organ failure. Although the precise mechanism of lymphoid transformation is not yet fully understood, this case clinically supports the nature of MDS as a pluripotent hematopoietic stem cell disorder.
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Affiliation(s)
- Norihide Sato
- Division of Hematology, Department of Medicine, Keio University School of Medicine, Tokyo, Japan.
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7
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Pajor L, Matolcsy A, Vass JA, Méhes G, Marton E, Szabó F, Iványi JL. Phenotypic and genotypic analyses of blastic cell population suggest that pure B-lymphoblastic leukemia may arise from myelodysplastic syndrome. Leuk Res 1998; 22:13-7. [PMID: 9585074 DOI: 10.1016/s0145-2126(97)00131-8] [Citation(s) in RCA: 14] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/07/2023]
Abstract
The case history of a 70-year-old man with myelodysplastic syndrome terminated into acute leukemia in 22 months is presented. The leukemic cells exhibited multifocal acid phosphatase positivity and expressed TdT, CD45, CD34 and HLA-DR but not myeloid, monocytic or megakaryocytic differentiation antigenes. The genotypic analysis revealed clonal immunoglobulin heavy chain gene rearrangement. These phenotypic and genotypic analyses of the blastic cell population suggest that myelodysplastic syndrome may transform to pure acute lymphoblastic leukemia of B-cell origin.
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Affiliation(s)
- L Pajor
- Department of Pathology, University Medical School of Pécs, Hungary.
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8
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Lima CS, de Souza CA, Cardinalli IA, Lorand-Metze I. Lymphoblastic transformation of myelodysplastic syndrome. SAO PAULO MED J 1997; 115:1508-12. [PMID: 9595816 DOI: 10.1590/s1516-31801997000400009] [Citation(s) in RCA: 8] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/07/2023] Open
Abstract
Mielodysplastic syndromes (MDS) are clonal disorders of the hemopoietic stem cell. About one third of the cases terminate in an acute leukemia, usually acute myeloblastic leukemia. However, few cases of transformation into acute lymphoblastic leukemia (ALL) have been described. We present a case of refractory anemia that transformed into ALL two months after diagnosis and was successfully treated with conventional chemotherapy. Two years later a hyperfibrotic form of MDS was detected in the patient, that soon after terminated in acute megakaryoblastic leukemia. The course of MDS in the present case provides evidence that MDS can involve a pluripotent stem cell, presenting clonal evolution, documented by successive changes in its clinical and hematological features.
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Affiliation(s)
- C S Lima
- Department of Internal Medicine, Faculty of Medicine, State University of Campinas, Brazil
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9
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San Miguel JF, Sanz GF, Vallespí T, del Cañizo MC, Sanz MA. Myelodysplastic syndromes. Crit Rev Oncol Hematol 1996; 23:57-93. [PMID: 8817082 DOI: 10.1016/1040-8428(96)00197-7] [Citation(s) in RCA: 13] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/02/2023] Open
Affiliation(s)
- J F San Miguel
- Hematology Service, Hospital Clínico Universitario of Salamanca, Spain
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10
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Kouides PA, Bennett JM. Transformation of chronic myelomonocytic leukemia to acute lymphoblastic leukemia: case report and review of the literature of lymphoblastic transformation of myelodysplastic syndrome. Am J Hematol 1995; 49:157-62. [PMID: 7771469 DOI: 10.1002/ajh.2830490211] [Citation(s) in RCA: 27] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/27/2023]
Abstract
If chronic myelomonocytic leukemia (CMML) transforms into an acute leukemic phase, the blast crisis is invariably myeloid. Occasionally, the other subtypes of myelodysplastic syndrome (MDS) (refractory anemia, refractory anemia with ringed sideroblasts, refractory anemia with excess blasts, refractory anemia with excess blasts in transformation) have been noted to transform into acute lymphoblastic leukemia (ALL). We now report a case of CMML that transformed into ALL and we review the literature of 13 other cases of MDS with ALL transformation. Such cases provide suggestive clinical evidence that MDS can involve a pluripotent stem cell.
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Affiliation(s)
- P A Kouides
- Department of Medicine, Hematology Unit, Rochester General Hospital, NY 14621, USA
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11
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Noël P, Tefferi A, Pierre RV, Jenkins RB, Dewald GW. Karyotypic analysis in primary myelodysplastic syndromes. Blood Rev 1993; 7:10-8. [PMID: 8467227 DOI: 10.1016/0268-960x(93)90019-z] [Citation(s) in RCA: 16] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/30/2023]
Abstract
Cytogenetics has provided new insights into the biology and pathogenesis of myelodysplastic syndromes. In patients with refractory anemia, it has provided proof of clonality and has helped differentiate chronic myelomonocytic leukemia from chronic myeloid leukemia. As a prognostic tool, cytogenetics has been predictive of duration of survival and leukemic transformation. However, its role as an independent prognostic factor compared with recent prognostic scoring systems remains to be determined. New techniques such as fluorescent in situ hybridization using chromosome-specific DNA probes may expand the usefulness of cytogenetics. The prognostic impact of cytogenetics may not be fully realized until more effective treatments become available.
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Affiliation(s)
- P Noël
- Division of Hematology and Internal Medicine, Mayo Clinic, Rochester, Minnesota
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12
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Noël P, Solberg LA. Myelodysplastic syndromes. Pathogenesis, diagnosis and treatment. Crit Rev Oncol Hematol 1992; 12:193-215. [PMID: 1379818 DOI: 10.1016/1040-8428(92)90054-t] [Citation(s) in RCA: 28] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/26/2022] Open
Abstract
Our understanding of the biology of leukemia and myelodysplasia is still only partial. The diagnosis of myelodysplasia is often based on quantitative and qualitative findings in the peripheral blood and bone marrow. These findings are often shared by other disorders. There is a need for sensitive and inexpensive laboratory tests to determine clonality and karyotypic abnormalities in this disorder. Future classifications of these syndromes will need to be based on morphologic and biologic markers that are closely linked to disease progression, response to treatment, and survival. Our limited understanding of the pathogenesis of MDS decreases the specificity and effectiveness of our therapeutic interventions. Agents that are minimally toxic such as CRA, danazol, 1,25-dihydroxyvitamin D3, androgens, and pyridoxine are seldom useful. Antileukemic therapy and allogeneic bone marrow transplantation have a major role to play in patients younger than 45 years of age; in older patients these treatment modalities remain controversial because of their toxicity. Hematopoietic growth factors, used alone or in combination, may improve the quality of life and improve survival of patients with MDS. Growth factors may also decrease treatment-related mortality associated with chemotherapy and bone marrow transplantation and render these treatment modalities available for a higher percentage of patients. The development of more specific differentiating agents may permit hematopoietic differentiation while minimizing side effects.
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Affiliation(s)
- P Noël
- Division of Hematology and Internal Medicine, Mayo Clinic, Rochester, MN 55905
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13
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Rozman M, Ribera JM, Ispizua AU, Matutes E, Villamor N, Vives Corrons JL, Montserrat E, Rozman C. Early Pre-B Lymphoblastic Transformation in A Patient with Refractory Anemia. Leuk Lymphoma 1991; 3:301-3. [DOI: 10.3109/10428199109107918] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/13/2022]
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14
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Affiliation(s)
- M A Dayton
- Department of Medicine, Indiana University School of Medicine, Indianapolis
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15
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Behm FG. Morphologic and Cytochemical Characteristics of Childhood Lymphoblastic Leukemia. Hematol Oncol Clin North Am 1990. [DOI: 10.1016/s0889-8588(18)30465-9] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/14/2022]
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16
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Komatsu N, Yoshida M, Eguchi M, Akashi M, Sasaki R, Sakamoto S, Miura Y. Simultaneous expression of lymphoid and myeloid phenotypes in acute leukemia arising from myelodysplastic syndrome. Am J Hematol 1988; 28:103-6. [PMID: 3164979 DOI: 10.1002/ajh.2830280208] [Citation(s) in RCA: 15] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/04/2023]
Abstract
A 57-year-old female developed myelodysplastic syndrome (MDS) that terminated as a biphenotypic leukemia after exposure to chemoradiotherapy. Double staining of blast cells, using monoclonal antibodies specific for myeloid and lymphoid lineage, demonstrated that one-third of the leukemic cells simultaneously expressed the E rosette-associated antigen (OKT11) and myeloid-associated antigen (MY7). This finding suggests the possibility that some cases of MDS are clonal disorders that arise in a pluripotent stem cell that can also differentiate to T cell lineage.
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Affiliation(s)
- N Komatsu
- Department of Medicine, Jichi Medical School, Tochigi-ken, Japan
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