Coexistent systemic mastocytosis and essential thrombocythemia complicated with monoclonal gammopathy and hypocomplementaemia

• Authors: Judit Varkonyi , Eszter Rausz , Pál Pánczél , Melinda Sperlagh , Lilian Varga , Henriette Farkas , Judit Csomor , Tibor Füle , István Karádi
• Languages of publication: EN

Abstracts

EN

Hematological neoplasms associated with systemic mast cell disease are most frequently of myeloid origin. There are a few reports, however, of systemic mastocytosis (SM) cases associated with lymphoid or plasma cell neoplasms as well. In this report, the authors present a case of SM (with D816V mutation in the c-KIT gene) associated with JAK2 V617F mutation negative essential thrombocythemia. The leading symptom of the 78-year-old female was recurring hydrothorax that responded only to interferon alpha therapy. During the first year of therapy, the patient developed insulin-dependent diabetes and hypothyroidism. The hematological workup also revealed IgG kappa monoclonal gammopathy that was non-progressive in the following next three years. Low levels of complements without known clinical significance accompanied the entire picture.

Keywords

EN

Systemic mastocytosis; Monoclonal Gammopathy; Interferon alpha; Hypocomplementaemia

• Publisher: De Gruyter Open
• Journal: Open Medicine
• Year: 2012
• Volume: 7
• Issue: 6
• Pages: 742-746

Dates

published

1 - 12 - 2012

online

11 - 10 - 2012

Contributors

author

Judit Varkonyi

• 3rd Department of Internal Medicine, Semmelweis University, H-1125, Budapest, Hungary

author

Eszter Rausz

• PhD School of Semmelweis University, H-1085, Budapest, Hungary

author

Pál Pánczél

• 3rd Department of Internal Medicine, Semmelweis University, H-1125, Budapest, Hungary

author

Melinda Sperlagh

• 3rd Department of Internal Medicine, Semmelweis University, H-1125, Budapest, Hungary

author

Lilian Varga

• 3rd Department of Internal Medicine, Semmelweis University, H-1125, Budapest, Hungary

author

Henriette Farkas

• 3rd Department of Internal Medicine, Semmelweis University, H-1125, Budapest, Hungary

author

Judit Csomor

• 1st Department of Pathology, Semmelweis Unniversity, H-1083, Budapest, Hungary

author

Tibor Füle

• 1st Department of Pathology, Semmelweis Unniversity, H-1083, Budapest, Hungary

author

István Karádi

• 3rd Department of Internal Medicine, Semmelweis University, H-1125, Budapest, Hungary

References

• [1] Valent P., Horny H.P., Escribano L., Longley B.J., Li C.Y., Schwartz L.B., Marone G., Nunez R., Akin C., Sotlar K., Sperr W.R., Wolff K., Brunning R.D., Parwaresch R.M., Austen K.F., Lennert K., Vardiman J.W., Bennett J.M. Diagnostic criteria and classification of mastocytosis: a consensus proposal. Leukemia Research 2001, 25, 603–625. http://dx.doi.org/10.1016/S0145-2126(01)00038-8[Crossref]
• [2] Valent P., Akin C., Escribano L. Födinger M., Hartmann K., Brockow K., Castells M., Sperr W. R., Kluin-Nelemans H. C., Hamdy N. A. T., Lortholary O., Robyn J., van Doormaal J., Sotlar K., Hauswirth A.W., Arock M., Hermine O., Hellmann A., Triggiani M., Niedoszytko M. Standards and standardization in mastocytosis: Consensus Statements on Diagnostics, Treatment Recommendations and Response Criteria. European Journal of Clinical Investigation 2007,37, 435–453. http://dx.doi.org/10.1111/j.1365-2362.2007.01807.x[Crossref][WoS]
• [3] Hagen W., Schwarzmeier J., Walchshofer S., et al. A case of bone marrow mastocytosis associated with multiple myeloma. Ann. Haematol. 1998,76, 167–74. http://dx.doi.org/10.1007/s002770050382[Crossref]
• [4] Stellmacher F., Sotlar K., Balleisen L., et al. Bone marrow mastocytosis associated with IgM Kappa plasma cell myeloma. Leukemia Lymphoma 2004, 45, 801–805. http://dx.doi.org/10.1080/10428190310001615693[Crossref]
• [5] Sotlar K., Saeger W., Stellmacher F., Stahmer J., Jäckle S., Valent P., Horny H-P. “Occult” mastocytosis with activating c-kit point mutation evolving into systemic mastocytosis associated with plasma cell myeloma and secondary amyloidosis J. Clin. Pathol. 2006,59, 875–878. http://dx.doi.org/10.1136/jcp.2005.028837[Crossref]
• [6] Pullarkat S.T., Sedarat F., Paquette R. et al. Systemic Mastocytosis with Plasma. Cell Dyscrasia: report of a case. Leuk. Res. 2008, 32, 1160–1163 http://dx.doi.org/10.1016/j.leukres.2007.10.017[Crossref][WoS]
• [7] Motwani P., Kocoglu M., Lorsbach R.B. Systemic mastocytosis in association with plasma cell dyscrasias: report of a case and review of the literature. Leuk. Res. 2009, 33, 856–859 http://dx.doi.org/10.1016/j.leukres.2008.11.010[Crossref][WoS]
• [8] Kluin-Nelemans H.C., Ferenc V., van Doormaal J.J., van Iperen C., Peters W.G., Akin C., Valent P. Lenalidomide therapy in systemic mastocytosis. Leuk. Res. 2009, 33, 19–22 http://dx.doi.org/10.1016/j.leukres.2008.06.013[Crossref]
• [9] Giclas P.C. Classical pathway evaluation. Curr. Protoc. Immunol. 2001, Chapter 13, Unit 13.1 [Crossref]
• [10] Minh D.Q., Czink E., Mod A., Fust G., Hollan S.R. Serial complement measurements in patients with leukaemia. Clin. Lab. Haematol. 1983, 5, 23–34. http://dx.doi.org/10.1111/j.1365-2257.1983.tb00493.x[Crossref]
• [11] Delamarche C., Berger F., Pouplard A., Emile J. An ELISA technique for the measurement of C1q in cerebrospinal fluid. J. Immunol Methods 1988, 114, 101–106 http://dx.doi.org/10.1016/0022-1759(88)90160-3[Crossref]
• [12] Swerdlow S.H., Campo E., Harris N.L., et al, editors. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. Lyon, France: IARC; 2008
• [13] Raanani P., Ben Bassat I. Immune-mediated complications during interferon therapy in hematological patients. Acta Haemtol. 2002,107, 133–144 http://dx.doi.org/10.1159/000057631[Crossref]
• [14] Vardiman J.W., Harris N.L., Brunning R.D. The World Health Organization (WHO) classification of the myeloid neoplasms. Blood, 2002,100, 2292–2302 http://dx.doi.org/10.1182/blood-2002-04-1199[Crossref]
• [15] Cugno M., Castelli R., Cicardi M. Angioedema due to acquired C1 - inhibitor deficiency: A bridging condition between autoimmunity and lymphoproliferation. Autoimmunity Reviews 2008, 8, 156–159 http://dx.doi.org/10.1016/j.autrev.2008.05.003[Crossref][WoS]
• [16] van Spronsen D.J., Hoorntje S.J., Hannema A.J., Hack C.E. Acquired angio-oedema caused by IgA paraprotein. Neth. J. Med. 1998, 52, 22–25 http://dx.doi.org/10.1016/S0300-2977(97)00066-1[Crossref]
• [17] Gordon E.H., Beall G.N., Klaustermeyer W.B. Angioedema and multiple myeloma. Ann. Allergy 1983, 51, 378–380

Identifiers

DOI

10.2478/s11536-012-0065-1