Abstract
Myelodysplastic syndromes (MDS) comprise a group of clonal hematopoietic stem cell disorders characterised by dysplasia in at least one major myeloid cell line and signs of bone marrow insufficiency with subsequent cytopenia. The updated WHO classification of MDS defines several subtypes including refractory cytopenia (anemia, neutropenia and/or thrombocytopenia), refractory anemia (RA) with ring sideroblasts (RARS), refractory cytopenia with multilineage dysplasia and RA with excess of blast cells (RAEB). While isolated recfractory neutropenia and thrombocytopenia are very rare disease categories, refractory cytopenia with multilineages dysplasia, RARS and refractory anemia with excess of blasts are much more frequently observed. One peculiar subtype of MDS is defined by the presence of an isolated cytogenetic abnormality, in particular del(5q). The diagnostic approach to MDS should include not only cytomorphological evaluation of blood and bone marrow smears but also histological analysis of a bone marrow trephine biopsy specimen and molecular/cytogenetic findings. Some rare subvariants of MDS are not included in the WHO classification system but represent special disorders which can only be recognised by histological investigation: (1) hypocellular MDS, (2) MDS with fibrosis, and (3) MDS associated with systemic mastocytosis (SM) in the setting of a so-called SM-AHNMD (“associated clonal hematologic non-mast cell disorder”). While cytological atypia of blood cells is easilyrecognisable in smear preparations only histologic investigation of the bone marrow enables detection of reticulin fibrosis, small blast cell infiltrates and clustering of megakaryocytes. Therefore, immunohistochemical analysis with antibodies against the stem cell-associated antigen CD34, at least one platelet-related antibody (CD42, CD61), and an antibody against mast cell tryptase is recommended in all cases of suspected MDS. Differential diagnostic aspects include a broad variety of non-neoplastic and neoplastic disorders, especially overt acute myeloid leukemia (AML) but also systemic mastocytosis considering that more than one neoplasm may develop and co-exist in the same patient.
Keywords
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Bennett JM, Catovsky D, Daniel MT, Flandrin G, Galton DA, Gralnick HR, Sultan C (1982) Proposals for the classification of the myelodysplastic syndromes. Br J Haematol 51:189–199
Orazi A, Bennett JM, Germing U, Brunning RD, Bain BJ, Thiele J (2008) Myelodysplastic syndromes. In: Swerdlow SH et al (eds) World health organization classification of tumours. Pathology & genetics. Tumours of haematopoietic and lymphoid tissues. IARC Press, Lyon
Bennett JM (2005) A comparative review of classification systems in myelodysplastic syndromes (MDS). Semin Oncol 32:S3–S10
Greenberg P, Cox C, LeBeau MM, Fenaux P, Morel P, Sanz G et al (1997) International scoring system for evaluating prognosis in myelodysplastic syndromes. Blood 89:2079–2088
Lambertenghi-Deliliers G, Annaloro C, Oriani A, Soligo D (1992) Myelodysplastic syndrome associated with bone marrow fibrosis. Leuk Lymphoma 8:51–55
Horny H-P, Wehrmann M, Schlicker HU, Eichstaedt A, Clemens MR, Kaiserling E (1995) QBEND10 for the diagnosis of myelodysplastic syndromes in routinely processed bone marrow biopsy specimens. J Clin Pathol 48:291–294
Baur AS, Meuge-Moraw C, Schmidt PM, Parlier V, Jotterand M, Delacretaz F (2000) CD34/QBEND10 immunostaining in bone marrow biopsies: an additional parameter for the diagnosis and classification of myelodysplastic syndromes. Eur J Haematol 64:71–99
Horny H-P, Greschniok A, Jordan JH, Menke DM, Valent P (2003) Chymase expressing bone marrow mast cells in mastocytosis and myelodysplastic syndromes: an immunohistochemical and morphometric study. J Clin Pathol 56:103–106
Horny H-P, Sotlar K, Sperr WR, Valent P (2004) Systemic mastocytosis with associated clonal haematological non-mast cell lineage diseases: a histopathological challenge. J Clin Pathol 57:604–608
Valent P, Horny H-P, Bennett JM, Fonatsch C, Germing U, Greenberg P, Haferlach T, Haase T, Kolb H-J, Krieger O, Loken M, van de Loosdrecht A, Ogata K, Orfao A, Pfeilstöcker M, Rüter B, Sperr WR, Stauder R, Wells DA (2007) Definitions and standards in the diagnosis and treatment of the myelodysplastic syndromes: consensus statements and report from a working conference. Leuk Res 31:727–736
Tricot G, De Wolf-Peeters C, Vlietinck R, Verwilghen RL (1984) Bone marrow histology in myelodysplastic syndromes. II. Prognostic value of abnormal localization of immature precursors in MDS. Br J Haematol 58:217–225
Oriani A, Annaloro C, Soligo D, Pozzoli E, Cortelezzi A, Lambertenghi Deliliers G (1996) Bone marrow histology and CD34 immunostaining in the prognostic evaluation of primary myelodysplastic syndromes. Br J Haematol 92:360–364
Horny H-P, Sotlar K, Stellmacher F, Krokowski M, Agis H, Schwartz LB, Valent P (2006) The tryptase-positive compact round cell infiltrate of the bone marrow (TROCI-bm): a novel histopathological finding requiring the application of lineage-specific markers. J Clin Pathol 59:298–302
Thiele J, Quitmann H, Wagner S, Fischer R (1991) Dysmegakaryopoiesis in myelodysplastic syndromes (MDS): an immunomorphometric study of bone marrow trephine biopsy specimens. J Clin Pathol 44:300–305
Agis H, Krauth MT, Böhm A, Mosberger I, Müllauer L, Simonitsch-Klupp I, Walls AF, Horny H-P, Valent P (2006) Identification of basogranulin (BB1) as a novel immunohistochemical marker of basophils in normal bone marrow and patients with myeloprolferative disorders. Am J Clin Pathol 125:1–9
Agis H, Krauth MT, Mosberger I, Müllauer L, Simonitsch-Klupp I, Schwartz LB, Printz D, Böhm A, Fritsch G, Horny H-P, Valent P (2006) Enumeration and immunohistochemical characterisation of bone marrow basophils in myeloproliferative disorders using the basophil specific antibody 2D7. J Clin Pathol 59:396–402
Orazi A, O’Malley DP, Jiang J, Vance GH, Thomas J, Czader M, Fang W, An C, Banks PM (2005) Acute panmyelosis with myelofibrosis: an entity distinct from acute megakaryoblastic leukemia. Mod Pathol 18:603–614
Imbert M, Nguyen D, Sultan C (1992) Myelodysplastic syndromes (MDS) and acute myeloid leukemias (AML) with myelofibrosis. Leuk Res 16:51–54
Horny H-P, Sotlar K, Valent P (2007) Diagnostic value of histology and immunohistochemistry in myelodysplastic syndromes. Leuk Res 31:1609–1616
Brunning RD, Bennett JM, Flandrin G, Matutes E, Head D, Vardiman JW et al (2001) Myelodysplastic syndromes. In: Jaffe ES, Harris NL, Stein H, Vardiman JW (eds) World health organization classification of tumours. Pathology & genetics. Tumours of haematopoietic and lymphoid tissues, vol 1. IARC Press, Lyon, pp 61–73
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2011 Springer Science+Business Media B.V.
About this chapter
Cite this chapter
Horny, HP., Valent, P. (2011). Myelodysplastic Syndromes/Neoplasms: Morphological and Immunohistochemical Features and Standard Evaluation. In: Várkonyi, J. (eds) The Myelodysplastic Syndromes. Springer, Dordrecht. https://doi.org/10.1007/978-94-007-0440-4_3
Download citation
DOI: https://doi.org/10.1007/978-94-007-0440-4_3
Published:
Publisher Name: Springer, Dordrecht
Print ISBN: 978-94-007-0439-8
Online ISBN: 978-94-007-0440-4
eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)