Rare Case of Multiple Lineage Dysplasia Myelodysplastic Syndrome Presenting with Only Anemia: A Case Report

Noorwati Sutandyo; Ikhwan Rinaldi; Resti Mulya Sari; Agus Susanto Kosasih; Lyana Setiawan; Kevin Winston

doi:10.3889/oamjms.2021.6969

Authors

Noorwati Sutandyo Department of Internal Medicine, Division of Hematology and Medical Oncology, Faculty of Medicine, Universitas Indonesia, Dharmais National Cancer Hospital, Jakarta, Indonesia
Ikhwan Rinaldi Department of Internal Medicine, Division of Hematology and Medical Oncology, Faculty of Medicine, Universitas Indonesia, Cipto Mangunkusumo National General Hospital, Jakarta, Indonesia
Resti Mulya Sari Department of Internal Medicine, Division of Hematology and Medical Oncology, Faculty of Medicine, Universitas Indonesia, Dharmais National Cancer Hospital, Jakarta, Indonesia
Agus Susanto Kosasih Department of Clinical Pathology, Faculty of Medicine, Universitas Indonesia, Dharmais National Cancer Hospital, Jakarta, Indonesia
Lyana Setiawan Department of Clinical Pathology, Faculty of Medicine, Universitas Indonesia, Dharmais National Cancer Hospital, Jakarta, Indonesia
Kevin Winston Department of Internal Medicine, Faculty of Medicine, Universitas Indonesia, Cipto Mangunkusumo National General Hospital, Jakarta, Indonesia

DOI:

https://doi.org/10.3889/oamjms.2021.6969

Keywords:

Myelodysplastic syndrome, Anemia, Lenalidomide, Elderly, Leukemia

Abstract

BACKGROUND: Myelodysplastic syndrome (MDS) is a heterogeneous group of hematopoietic stem cell disorders which is characterized by ineffective hematopoiesis and risk of progression into acute myeloid leukemia. The diagnosis and classification of MDS are determined from the findings of dysplasia in one or more cell lineage and the percentage of blast cell on bone marrow examination. However, it should be noted that an abnormality in one marrow cell lineage does not necessarily translate to the corresponding clinical phenotype. Here, we present a case of MDS with multilineage dysplasia (MLD) (erythrocyte, leukocyte, and thrombocyte) from bone marrow aspiration, but with anemia as the sole clinical manifestation (single cytopenia).

CASE REPORT: A 78-year-old male patient came to our clinic on July 10, 2020, with chief complaint of worsening fatigue which started approximately 1 year before visit. His vital signs during the visit were stable and no other abnormalities observed other than pale conjunctivae. Complete blood count showed macrocytic anemia with no abnormalities in leukocyte count and thrombocyte count, which suggested a single cytopenia. Peripheral blood smear was negative for megaloblasts and hypersegmented neutrophils. The patient’s bone marrow examination showed MDS with MLD. This result was in contrast to complete blood count examination which only showed anemia (single cytopenia).

CONCLUSION: This case showed that there could be discrepancy between clinical manifestations of the cytopenia with bone marrow dysplasia, which highlighted the importance of conducting bone marrow examination to properly classify MDS type.

Downloads

Download data is not yet available.

Metrics

Metrics Loading ...

Plum Analytics Artifact Widget Block

References

Fontenay M, Farhat B, Boussaid I. Pathophysiology of myelodysplastic syndromes. Hemato. 2021;2:477-95.

Cazzola M. Myelodysplastic syndromes. N Engl J Med. 2020;383(14):1358-74. http://doi.org/10.1056/NEJMra1904794 PMid:32997910

Gangat N, Patnaik MM, Tefferi A. Myelodysplastic syndromes: Contemporary review and how we treat. Am J Hematol. 2016;91(1):76-89. http://doi.org/10.1002/ajh.24253 PMid:26769228

Malcovati L, Hellström-Lindberg E, Bowen D, Adès L, Cermak J, Del Cañizo C, et al. Diagnosis and treatment of primary myelodysplastic syndromes in adults: Recommendations from the European LeukemiaNet. Blood. 2013;122(17):2943-64. http://doi.org/10.1182/blood-2013-03-492884 PMid:23980065

Samiev D, Bhatt VR, Armitage JD, Maness LJ, Akhtari M. A primary care approach to myelodysplastic syndromes. Korean J Fam Med. 2014;35(3):111-8. http://doi.org/10.4082/kjfm.2014.35.3.111 PMid:24921029

Ma X. Epidemiology of myelodysplastic syndromes. Am J Med 2012;125(7 Suppl):S2-5. http://doi.org/10.1016/j.amjmed.2012.04.014 PMid:22735748

Sekeres MA, Schoonen WM, Kantarjian H, List A, Fryzek J, Paquette R, et al. Characteristics of US patients with myelodysplastic syndromes: Results of six crosssectional physician surveys. JNCI J Natl Cancer Inst. 2008;100(21):1542-51. http://doi.org/10.1093/jnci/djn349 PMid:18957672

Marisavljevic D, Savic A, Zeremski V, Stanisavljevic N, Jelic S. Myelodysplastic syndromes in adults aged less than 50 years: Incidence and clinicopathological data. J BUON 2014;19(4):999-1005. PMid:25536608

Ma X, Does M, Raza A, Mayne ST. Myelodysplastic syndromes: Incidence and survival in the United States. Cancer. 2007;109(8):1536-42. http://doi.org/10.1002/cncr.22570 PMid:17345612

Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood. 2016;127(20):2391-405. http://doi.org/10.1182/blood-2016-03-643544 PMid:27069254

Maassen A, Strupp C, Giagounidis A, Kuendgen A, Nachtkamp K, Hildebrandt B, et al. Validation and proposals for a refinement of the WHO 2008 classification of myelodysplastic syndromes without excess of blasts. Leuk Res. 2013;37(1):64-70. http://doi.org/10.1016/j.leukres.2012.09.021 PMid:23122806

Germing U, Strupp C, Giagounidis A, Haas R, Gattermann N, Starke C, et al. Evaluation of dysplasia through detailed cytomorphology in 3156 patients from the Düsseldorf Registry on myelodysplastic syndromes. Leuk Res. 2012;36(6):727-34. http://doi.org/10.1016/j.leukres.2012.02.014 PMid:22421409

Greenberg PL, Tuechler H, Schanz J, Sanz G, Garcia-Manero G, Solé F, et al. Revised international prognostic scoring system for myelodysplastic syndromes. Blood. 2012;120(12):2454-65. http://doi.org/10.1182/blood-2012-03-420489 PMid:22740453

Foran JM, Shammo JM. Clinical presentation, diagnosis, and prognosis of myelodysplastic syndromes. Am J Med. 2012;125(7 Suppl):S6-13. http://doi.org/10.1016/j.amjmed.2012.04.015 PMid:22735753

Barzi A, Sekeres MA. Myelodysplastic syndromes: A practical approach to diagnosis and treatment. Cleve Clin J Med. 2010;77(1):37-44. http://doi.org/10.3949/ccjm.77a.09069 PMid:20048028

Nagao T, Hirokawa M. Diagnosis and treatment of macrocytic anemias in adults. J Gen Fam Med. 2017;18(5):200-4. PMid:29264027

Nguyen PL. The myelodysplastic syndromes. Hematol Oncol Clin North Am. 2009;23(4):675-91. http://doi.org/10.1016/j.hoc.2009.04.008 PMid:19577164

Aslinia F, Mazza JJ, Yale SH. Megaloblastic anemia and other causes of macrocytosis. Clin Med Res. 2006;4(3):236-41. http://doi.org/10.3121/cmr.4.3.236 PMid:16988104

Pileggi C, Di Sanzo M, Mascaro V, Marafioti MG, Costanzo FS, Pavia M. Role of serum ferritin level on overall survival in patients with myelodysplastic syndromes: Results of a meta-analysis of observational studies. PLoS One. 2017;12(6):e0179016. http://doi.org/10.1371/journal.pone.0179016 PMid:28622367

Cortelezzi A, Cattaneo C, Cristiani S, Duca L, Sarina B, Deliliers GL, et al. Non-transferrin-bound iron in myelodysplastic syndromes: A marker of ineffective erythropoiesis? Hematol J. 2000;1(3):153-8. http://doi.org/10.1038/sj.thj.6200028 PMid:11920184

Kim A, Nemeth E. New insights into iron regulation and erythropoiesis. Curr Opin Hematol. 2015;22(3):199-205. http://doi.org/10.1097/MOH.0000000000000132 PMid:25710710

Kikuchi S, Kobune M, Iyama S, Sato T, Murase K, Kawano Y, et al. Prognostic significance of serum ferritin level at diagnosis in myelodysplastic syndrome. Int J Hematol. 2012;95(5):527-34. http://doi.org/10.1007/s12185-012-1048-3 PMid:22407873

Haase D, Germing U, Schanz J, Pfeilstöcker M, Nösslinger T, Hildebrandt B, et al. New insights into the prognostic impact of the karyotype in MDS and correlation with subtypes: Evidence from a core dataset of 2124 patients. Blood. 2007;110(13):4385-95. http://doi.org/10.1182/blood-2007-03-082404 PMid:17726160

Anastasi J, Feng J, Le Beau MM, Larson RA, Rowley JD, Vardiman JW. Cytogenetic clonality in myelodysplastic syndromes studied with fluorescence in situ hybridization: Lineage, response to growth factor therapy, and clone expansion. Blood. 1993;81(6):1580-5. PMid:8453104

Gondek LP, Tiu R, O’Keefe CL, Sekeres MA, Theil KS, Maciejewski JP. Chromosomal lesions and uniparental disomy detected by SNP arrays in MDS, MDS/MPD, and MDS-derived AML. Blood. 2008;111(3):1534-42. http://doi.org/10.1182/blood-2007-05-092304 PMid:17954704

Zahid MF, Malik UA, Sohail M, Hassan IN, Ali S, Shaukat MH, et al. Cytogenetic abnormalities in myelodysplastic syndromes: An overview. Int J Hematol Oncol Stem Cell Res. 2017;11(3):231-9. PMid:28989590

Kawankar N, Vundinti BR. Cytogenetic abnormalities in myelodysplastic syndrome: An overview. Hematology. 2011;16(3):131-8. http://doi.org/10.1179/102453311X12940641877966 PMid:21669051

List A, Dewald G, Bennett J, Giagounidis A, Raza A, Feldman E, et al. Lenalidomide in the myelodysplastic syndrome with chromosome 5q deletion. N Engl J Med. 2006;355(14):1456-65. http://doi.org/10.1056/NEJMoa061292 PMid:17021321

Giagounidis A a. N, Germing U, Haase S, Hildebrandt B, Schlegelberger B, Schoch C, et al. Clinical, morphological, cytogenetic, and prognostic features of patients with myelodysplastic syndromes and del(5q) including band q31. Leukemia. 2004;18(1):113-9. http://doi.org/10.1038/sj.leu.2403189 PMid:14586479

Ebert BL, Pretz J, Bosco J, Chang CY, Tamayo P, Galili N, et al. Identification of RPS14 as a 5q- syndrome gene by RNA interference screen. Nature. 2008;451(7176):335-9. PMid:18202658

Schneider RK, Ademà V, Heckl D, Järås M, Mallo M, Lord AM, et al. Role of casein kinase 1A1 in the biology and targeted therapy of del(5q) MDS. Cancer Cell. 2014;26:509-20. http://doi.org/10.1016/j.ccr.2014.08.001 PMid:25242043

Fink EC, Ebert BL. The novel mechanism of lenalidomide activity. Blood. 2015;126(21):2366-9. http://doi.org/10.1182/blood-2015-07-567958 PMid:26438514

Gupta R, Soupir CP, Johari V, Hasserjian RP. Myelodysplastic syndrome with isolated deletion of chromosome 20q: An indolent disease with minimal morphological dysplasia and frequent thrombocytopenic presentation. Br J Haematol. 2007;139(2):265-8. PMid:17764468

Braun T, de Botton S, Taksin AL, Park S, Beyne-Rauzy O, Coiteux V, et al. Characteristics and outcome of myelodysplastic syndromes (MDS) with isolated 20q deletion: A report on 62 cases. Leuk Res. 2011;35(7):863-7. http://doi.org/10.1016/j.leukres.2011.02.008 PMid:21396711

Bacher U, Haferlach T, Schnittger S, Zenger M, Meggendorfer M, Jeromin S, et al. Investigation of 305 patients with myelodysplastic syndromes and 20q deletion for associated cytogenetic and molecular genetic lesions and their prognostic impact. Br J Haematol. 2014;164(6):822-33. http://doi.org/10.1111/bjh.12710 PMid:24372512

Kere J, Ruutu T, de la Chapelle A. Monosomy 7 in granulocytes and monocytes in myelodysplastic syndrome. N Engl J Med. 1987;316(9):499-503. http://doi.org/10.1056/NEJM198702263160902 PMid:2880296

Cordoba I, González-Porras JR, Nomdedeu B, Luño E, de Paz R, Such E, et al. Better prognosis for patients with del(7q) than for patients with monosomy 7 in myelodysplastic syndrome. Cancer. 2012;118(1):127-33. http://doi.org/10.1002/cncr.26279 PMid:21717439

Chen C, Liu Y, Rappaport AR, Kitzing T, Schultz N, Zhao Z, et al. MLL3 is a haploinsufficient 7q tumor suppressor in acute myeloid leukemia. Cancer Cell. 2014;25(5):652-65. http://doi.org/10.1016/j.ccr.2014.03.016 PMid:24794707

Wimazal F, Sperr WR, Kundi M, Meidlinger P, Fonatsch C, Jordan JH, et al. Prognostic value of lactate dehydrogenase activity in myelodysplastic syndromes. Leuk Res. 2001;25(4):287-94. http://doi.org/10.1016/s0145-2126(00)00140-5 PMid:11248325

Morita K, Arai S, Kogure Y, Honda A, Nakazaki K, Kurokawa M. Serum LDH is useful to predict prognosis for intermediate-risk myelodysplastic syndrome. Blood. 2015;126:5255. https://doi.org/10.1182/blood.V126.23.5255.5255

Cazzola M, Della Porta MG, Malcovati L. Clinical relevance of anemia and transfusion iron overload in myelodysplastic syndromes. Hematol Am Soc Hematol Educ Program. 2008;1:166-75. https://doi.org/10.1182/asheducation-2008.1.166 PMid:19074076

Stanworth SJ, Killick S, McQuilten ZK, Karakantza M, Weinkove R, Smethurst H, et al. Red cell transfusion in outpatients with myelodysplastic syndromes: A feasibility and exploratory randomised trial. Br J Haematol. 2020;189(2):279-90. https://doi.org/10.1111/bjh.16347 PMid:31960409

Malcovati L. Impact of transfusion dependency and secondary iron overload on the survival of patients with myelodysplastic syndromes. Leuk Res. 2007;31(Suppl 3):S2-6. https://doi.org/10.1016/S0145-2126(07)70459-9 PMid:18037415

Bessho M, Jinnai I, Matsuda A, Saito M, Hirashima K. Improvement of anemia by recombinant erythropoietin in patients with myelodysplastic syndromes and aplastic anemia. Int J Cell Cloning. 1990;8(6):445-58. https://doi.org/10.1002/stem.5530080647 PMid:2273298

Mantovani L, Lentini G, Hentschel B, Wickramanayake PD, Loeffler M, Diehl V, et al. Treatment of anaemia in myelodysplastic syndromes with prolonged administration of recombinant human granulocyte colony-stimulating factor and erythropoietin. Br J Haematol. 2000;109(2):367-75. https://doi.org/10.1046/j.1365-2141.2000.02016.x PMid:10848827

Fenaux P, Santini V, Spiriti MA, Giagounidis A, Schlag R, Radinoff A, et al. A phase 3 randomized, placebo-controlled study assessing the efficacy and safety of epoetin-α in anemic patients with low-risk MDS. Leukemia. 2018;32(12):2648-58. https://doi.org/10.1038/s41375-018-0118-9 PMid:29895954

Hellström-Lindberg E, Gulbrandsen N, Lindberg G, Ahlgren T, Dahl IM, Dybedal I, et al. A validated decision model for treating the anaemia of myelodysplastic syndromes with erythropoietin + granulocyte colony-stimulating factor: Significant effects on quality of life. Br J Haematol. 2003;120(6):1037-46. https://doi.org/10.1046/j.1365-2141.2003.04153.x PMid:12648074

Santini V, Almeida A, Giagounidis A, Gröpper S, Jonasova A, Vey N, et al. Randomized phase III study of lenalidomide versus placebo in RBC transfusion-dependent patients with lower-risk non-del(5q) myelodysplastic syndromes and ineligible for or refractory to erythropoiesis-stimulating agents. J Clin Oncol. 2016;34(25):2988-96. https://doi.org/10.1200/JCO.2015.66.0118 PMid:27354480