Medical Oncology

, Volume 29, Issue 5, pp 3540–3546 | Cite as

Systemic mastocytosis: progressive evolution of an occult disease into fatal mast cell leukemia: unique findings on an unusual hematological neoplasm

  • T. GülenEmail author
  • B. Sander
  • G. Nilsson
  • J. Palmblad
  • K. Sotlar
  • H.-P. Horny
  • H. Hägglund
Original Paper


Systemic mastocytosis (SM) may be associated with a clonal hematopoietic non-mast cell-lineage disease (AHNMD). SM and AHNMD even may be clonally related. This report contributes to a better understanding of the different morphological aspects of SM by demonstrating that various AHNMDs can be detected in one patient during the course of disease. Routinely processed biopsy specimens of bone marrow and spleen removed from a 63-year-old man were investigated including a broad panel of immunohistochemical stainings. KIT codon 816 mutation analysis was carried out by melting point analysis of nested PCR products amplified from DNA of pooled microdissected mast cells. The histomorphological features of the initial bone marrow showed diffuse infiltration by hairy cell leukemia (HCL). Occult SM was only detected retrospectively by demonstration of a slight diffuse increase in loosely scattered, spindle-shaped mast cells carrying the activating point mutation KIT D816V . In the second bone marrow, core biopsy removed about two years later HCL had been completely eradicated, while a diagnosis of SM-AHNMD with multifocal compact mast cell infiltrates associated with a myeloproliferative neoplasm (MPN) and significant increase in eosinophilic granulocytes was established. The third and last bone marrow biopsy specimen lacked the features of both MPN and HCL but showed progression into a secondary mast cell leukemia (MCL) with a focal sarcomatous component. To the best of the authors’ knowledge, this is the first description of a case of SM-AHNMD with coexisting hematological neoplasms of lymphatic and myeloid origin initially presenting as occult disease and terminating as secondary MCL.


Mastocytosis SM-AHNMD Mast cell leukemia Eosinophilia c-Kit mutation Occult SM 



This study was supported by grants from the Swedish Research Council; the Swedish Cancer Society; the Center for Allergy Research, Karolinska Institute and through the regional agreement on medical training and clinical research (ALF) between Stockholm County Council and the Karolinska Institutet.

Conflict of interest

The authors report no conflict of interest.


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Copyright information

© Springer Science+Business Media, LLC 2012

Authors and Affiliations

  • T. Gülen
    • 1
    • 2
    • 6
    Email author
  • B. Sander
    • 3
    • 6
  • G. Nilsson
    • 2
    • 6
  • J. Palmblad
    • 4
  • K. Sotlar
    • 5
  • H.-P. Horny
    • 5
  • H. Hägglund
    • 4
    • 6
  1. 1.Department of Respiratory Medicine and Allergy, M53Karolinska University Hospital HuddingeStockholmSweden
  2. 2.Clinical Immunology and Allergy Research Unit, Department of MedicineKarolinska University Hospital Solna, Karolinska InstituteStockholmSweden
  3. 3.Department of PathologyKarolinska University Hospital HuddingeStockholmSweden
  4. 4.Department of HematologyKarolinska University Hospital HuddingeStockholmSweden
  5. 5.Institute of PathologyLudwig-Maximilians UniversityMunichGermany
  6. 6.Mastocytosis Center at Karolinska University Hospital and Karolinska InstituteStockholmSweden

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