Variants of systemic mastocytosis: A report of three cases

Abstract

Advanced systemic mast cell neoplasms are very rare tumors and systemic mastocytosis is in the form of atypical leukemic infiltration of neoplastic mast cells to bone marrow and/or other organs. In this study, histological, immunohistochemical, flow cytometry, and molecular genetic findings of three patients that showing the increase in mast cells in the bone marrow discussed in terms of aggressive systemic mastocytosis, mast cell leukemia, systemic mastocytosis with associated clonal hematological non-mast lineage disease and myelomastocytic leukemia differential diagnosis in the light of the scientific literature. J Clin Exp Invest 2015; 6 (1): 65-68 Key words: Mast cell, neoplasm, differential diagnosis

Keywords

• Mast cell, neoplasm, differential diagnosis

Sistemik mastositoz: Üç olgu sunumu

Öz

İleri sistemik mast hücreli neoplaziler oldukça nadir tümörlerdir. Sistemik mastositoz, kemik iliği ve/veya diğer organlara neoplastik mast hücrelerinin atipik lösemik infiltrasyonu biçimindedir. Bu çalışmada kemik iliğinde mast hücre artışı gösteren 3 olgunun histolojik, immünohistokimyasal, flowsitometri ve genetik bulguları, ileri mast hücreli neoplazmlar -agresif sistemik mastositoz, mast hücreli lösemi, mast hücre dışı klonal hematolojik bir hastalıkla beraber olan sistemik mastositoz- ayırıcı tanısı açısından tartışılmıştır

Anahtar Kelimeler

• Mast hücresi, neoplazi, ayırıcı tanı

Kaynakça

1. Arredondo AR, Gotlib J, Shier L, et al. Myelomastocytic
2. leukemia versus mast cell leukemia versus systemic
3. mastocytosis associated with acute myeloid leukemia:
4. a diagnostic challenge. Am J Hematol 2010;85:600-
5. -
6. Valent P, Horny HP, Escribano L, et al. Diagnostic criteria
7. and classification of mastocytosis: a consensus
8. proposal. Leuk Res 2001;25:603-625.

9. Valent P, Akin C, Escribano L, et al. Standards and standardization
10. in mastocytosis: consensus statements
11. on diagnostics, treatment recommendations and response
12. criteria. Eur J Clin Invest 2007;37:435–453.
13. Valent P, Sperr WR, Schwartz LB, et al. Diagnosis and
14. classification of mast cell proliferative disorders: delineation
15. from immunologic diseases and non-mast
16. cell hematopoietic neoplasms. J Allergy Clin Immunol
17. ;114:3-11.
18. Valent P, Akin C, Sperr WR, et al. Diagnosis and treatment
19. of systemic mastocytosis: state of the art. Br J
20. Haematol 2003;122:695-717.
21. Horny H.P, Sotlar K, Valent P, et al. Mastocytosis: state
22. of the art. Pathobiology 2007;74:121-132.
23. Sperr W.R, Horny H.P, Lechner K, et al. Clinical and biologic
24. diversity of leukemias occurring in patients with
25. mastocytosis. Leuk Lymphoma 2000;37:473-486.
26. Noack F, Sotlar K, Notter M, et al. Aleukemic mast cell
27. leukemia with abnormal immunophenotype and c-kit
28. mutation D816V. Leuk Lymphoma 2004;45:2295-
29. -
30. Valent P, Somorapoompichit P, Sperr WR, et al. Myelomastocytic
31. leukemia: myeloid neoplasm characterized
32. by partial differentiation of mast cell-lineage cells.
33. Hematol J 2002;3:90-94.
34. Valent P, Sperr WR, Somorapoompichit P, et al. Myelomastocytic
35. overlap syndromes: biology, criteria, and
36. relationship to mastocytosis. Leuk Res 2001;25:595-
37. -