Aggressive systemic mastocytosis: a diagnostic challenge in a patient with myotonic dystrophy type 2: a case report

  • Christin Le Hoa Tran
  • Nadja Jaekel
  • Marcus Bauer
  • Alexander Emmer
  • Claudia Wickenhauser
  • Haifa Kathrin Al-AliEmail author
Letter to the Editor



aggressive systemic mastocytosis


bone marrow


body mass index

CT scan

computed tomography scan


myotonic dystrophy type 2




hematopoietic cell transplantation


mast cells


myeloproliferative neoplasm


percutaneous endoscopic gastrostomy tube


systemic mastocytosis


white blood count


Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Informed consent

The patient has given her informed consent for each diagnostic and therapeutic step presented in this case report as part of the routine clinical work up.


  1. 1.
    Valent P, Akin C, Metcalfe DD (2017) Mastocytosis: 2016 updated WHO classification and novel emerging treatment concepts. Blood 129:11CrossRefGoogle Scholar
  2. 2.
    Horny HP, Valent P (2001) Diagnosis of mastocytosis: general histopathological aspects, morphological criteria, and immunohistochemical findings. Leuk Res 25:7CrossRefGoogle Scholar
  3. 3.
    Pardanani A (2013) Systemic mastocytosis in adults: 2013 update on diagnosis, risk stratification, and management: Annual Clinical Updates in Hematological Malignancies: A Continuing Medical Education Series. Am J Hematol 88:7Google Scholar
  4. 4.
    Swerdlow SH, Campo E, Harris NL et al (2017) WHO classification of tumours of haematopoietic and lymphoid tissues. Revised, 4th edn. International Agency for Research on Cancer, LyonGoogle Scholar
  5. 5.
    Schoser B, Timchenko L (2010) Myotonic dystrophies 1 and 2: complex diseases with complex mechanisms. Curr Genomics 11(2):77–90CrossRefGoogle Scholar
  6. 6.
    Gotlib J, Kluin-Nelemans HC, George TI, Akin C, Sotlar K, Hermine O, Awan FT, Hexner E, Mauro MJ, Sternberg DW, Villeneuve M, Huntsman Labed A, Stanek EJ, Hartmann K, Horny HP, Valent P, Reiter A (2016) Efficacy and safety of midostaurin in advanced systemic mastocytosis. N Engl J Med 374:2530–2541CrossRefGoogle Scholar
  7. 7.
    Valent P, Akin C, Escribano L, Födinger M, Hartmann K, Brockow K, Castells M, Sperr WR, Kluin-Nelemans HC, Hamdy NA, Lortholary O, Robyn J, van Doormaal J, Sotlar K, Hauswirth AW, Arock M, Hermine O, Hellmann A, Triggiani M, Niedoszytko M, Schwartz LB, Orfao A, Horny HP, Metcalfe DD (2007) Standards and standardization in mastocytosis: consensus statements on diagnostics, treatment recommendations and response criteria. Eur J Clin Investig 37:435–453CrossRefGoogle Scholar
  8. 8.
    Jawhar M, Schwaab J, Schnittger S, Meggendorfer M, Pfirrmann M, Sotlar K, Horny HP, Metzgeroth G, Kluger S, Naumann N, Haferlach C, Haferlach T, Valent P, Hofmann WK, Fabarius A, Cross NC, Reiter A (2016) Additional mutations in SRSF2, ASXL1 and/or RUNX1 identify a high-risk group of patients with KIT D816V+ advanced systemic mastocytosis. Leukemia 30:136–143CrossRefGoogle Scholar

Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Department of Hematology/OncologyUniversity Hospital Halle, GermanyHalleGermany
  2. 2.Department of PathologyUniversity Hospital Halle, GermanyHalleGermany
  3. 3.Department of NeurologyUniversity Hospital Halle, GermanyHalleGermany

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