scholarly journals Hypotension, Syncope, and Fever in Systemic Mastocytosis without Skin Infiltration and Rapid Response to Corticosteroid and Cyclosporin: A Case Report

2010 ◽  
Vol 2010 ◽  
pp. 1-4 ◽  
Author(s):  
Didem Ozdemir ◽  
Selcuk Dagdelen ◽  
Tomris Erbas ◽  
Kemal Agbaht ◽  
Songul Serefhanoglu ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Mast Cell ◽  
Case Report ◽  
Cell Activation ◽  
Systemic Mastocytosis ◽  
Mast Cell Activation ◽  
Organ Systems ◽  
Abnormal Accumulation ◽  
Skin Infiltration ◽  
Principles Of Treatment

Mast cell disorders are defined by an abnormal accumulation of tissue mast cells in one or more organ systems. In systemic mastocytosis, at least one extracutaneous organ is involved by definition. Although, systemic mastocytosis usually represents with skin lesion called urticaria pigmentosa, in a small proportion, there is extracutaneous involvement without skin infiltration. Other manifestations are flushing, tachycardia, dyspepsia, diarrhea, hypotension, syncope, and rarely fever. Various medications have been used but there is not a definite cure for systemic mastocytosis. The principles of treatment include control of symptoms with measures aimed to decrease mast cell activation. We describe a case of systemic mastocytosis presenting with hypotension, syncope attacks, fever, and local flushing. In bone marrow biopsy, increased mast cell infiltration was demonstrated. She had no skin infiltration. A good clinicopathological response was obtained acutely with combination therapy of glucocorticoid and cyclosporine.

scholarly journals Case Report: Treatment of systemic mastocytosis with sunitinib

F1000Research ◽  
2017 ◽  
Vol 6 ◽  
pp. 2182 ◽  
Author(s):  
Gerhard J. Molderings ◽  
Lawrence B. Afrin ◽  
Hans-Jörg Hertfelder ◽  
Stefan Brettner
Keyword(s):  
Mast Cell ◽  
Case Report ◽  
Cell Activation ◽  
Kinase Inhibitors ◽  
Systemic Mastocytosis ◽  
Mast Cell Activation ◽  
Oral Allergy Syndrome ◽  
Inhibition Of Proliferation ◽  
Imatinib Resistant ◽  
Activation Syndrome

Mast cell activation disease typically presents as chronic multisystem polymorbidity of generally inflammatory ± allergic theme.  Presently, treatment of the rare, cytoproliferative variant systemic mastocytosis employs empirically selected therapies to impede mast cell mediator production and action and, when necessary, inhibition of proliferation. Some tyrosine kinase inhibitors (TKIs) have been used successfully in uncommon cases of systemic mastocytosis not bearing that disease’s usual imatinib-resistant KITD816V mutation. Recently, sunitinib, a multi-targeted TKI, had been successful in a case of systemic mast cell activation syndrome. In addition, most allergy is principally a mast cell activation phenomenon, and sunitinib has been shown helpful in controlling a murine model of oral allergy syndrome. Here, we present the first use of sunitinib in systemic mastocytosis.

Systemic Mastocytosis

2018 ◽  
Author(s):  
Matthew J. Hamilton
Keyword(s):  
Bone Marrow ◽  
Mast Cell ◽  
Blood Test ◽  
Cell Activation ◽  
Systemic Mastocytosis ◽  
Mast Cell Activation ◽  
Clonal Population ◽  
Ige Mediated ◽  
Specific Symptoms ◽  
Activation Syndrome

Systemic mastocytosis (SM) is a disease characterized by an abnormal proliferation and accumulation of a clonal population of mast cells in the tissues including the bone marrow, gastrointestinal tract, and skin. In the most common form, indolent mastocytosis, the symptoms are most often due to the consequences of mast cell activation and include flushing, abdominal pain, and diarrhea. The diagnosis is made using a defined set of criteria based on a tissue biopsy, with special staining and a blood test for tryptase. Treatment is directed at the mast cell activation and specific symptoms such as nausea and abdominal bloating. Differential diagnosis includes the non-clonal form of mast cell activation syndrome and IgE-mediated allergy. Keywords: mast cell, mast cell activation, mastocytosis, tryptase, flushing, urticaria pigmentosa, dermatographism This review contains 5 highly rendered figures, 4 tables, and 35 references.

scholarly journals MDS with 5q deletion and rare cKIT positive mastocytosis: a diagnostic and therapeutic challenge

2019 ◽  
Vol 12 (4) ◽  
pp. e227768
Author(s):  
Daniel Steven Sanders ◽  
Thomas Fennell ◽  
Mohammad Muhsin Chisti
Keyword(s):  
Bone Marrow ◽  
Mast Cell ◽  
Case Report ◽  
Systemic Mastocytosis ◽  
Molecular Testing ◽  
Bone Marrow Biopsies ◽  
Haematological Response ◽  
Clonal Origin ◽  
Mast Cell Population ◽  
5Q Deletion

A patient with a diagnosis of myelodysplastic syndrome (MDS) with isolated 5q deletion underwent repeat bone marrow biopsy to assess haematological response after 6 months of initial lenalidomide therapy. Subsequent bone marrow biopsies revealed persistent MDS with del(5q) in addition to a small atypical mast cell population with >25% of mast cells with spindle-shaped morphology and immunohistochemistry characteristics consistent with mastocytosis. Molecular testing on the bone marrow was positive for cKIT D816V and the patient was diagnosed with systemic mastocytosis (SM) with an associated haematological neoplasm. MDS with SM is well known to be associated; however, to the best of our knowledge, only one prior case report identifies MDS with del(5q) and associated cKIT D816V positive mastocytosis. While the exact clonal origin of both chromosomal aberrations is unclear, this case illustrates the therapeutic efficacy of lenalidomide in a patient with MDS with del(5q) and rarely associated cKIT positive SM.

Mast cell leukemia

Blood ◽  
2013 ◽  
Vol 121 (8) ◽  
pp. 1285-1295 ◽  
Author(s):  
Sophie Georgin-Lavialle ◽  
Ludovic Lhermitte ◽  
Patrice Dubreuil ◽  
Marie-Olivia Chandesris ◽  
Olivier Hermine ◽  
...  
Keyword(s):  
Mast Cell ◽  
Mast Cells ◽  
Cell Activation ◽  
De Novo ◽  
Systemic Mastocytosis ◽  
Mast Cell Activation ◽  
Cell Leukemia ◽  
Mast Cell Leukemia ◽  
Kit D816v

Abstract Mast cell leukemia (MCL) is a very rare form of aggressive systemic mastocytosis accounting for < 1% of all mastocytosis. It may appear de novo or secondary to previous mastocytosis and shares more clinicopathologic aspects with systemic mastocytosis than with acute myeloid leukemia. Symptoms of mast cell activation—involvement of the liver, spleen, peritoneum, bones, and marrow—are frequent. Diagnosis is based on the presence of ≥ 20% atypical mast cells in the marrow or ≥ 10% in the blood; however, an aleukemic variant is frequently encountered in which the number of circulating mast cells is < 10%. The common phenotypic features of pathologic mast cells encountered in most forms of mastocytosis are unreliable in MCL. Unexpectedly, non-KIT D816V mutations are frequent and therefore, complete gene sequencing is necessary. Therapy usually fails and the median survival time is < 6 months. The role of combination therapies and bone marrow transplantation needs further investigation.

scholarly journals Recent advances in the understanding and therapeutic management of mastocytosis

F1000Research ◽  
2019 ◽  
Vol 8 ◽  
pp. 1961 ◽  
Author(s):  
Julien Rossignol ◽  
Laura Polivka ◽  
Leila Maouche-Chrétien ◽  
Laurent Frenzel ◽  
Patrice Dubreuil ◽  
...  
Keyword(s):  
Mast Cell ◽  
Mast Cells ◽  
Cell Activation ◽  
Hematological Malignancies ◽  
Tumor Burden ◽  
New Drugs ◽  
Mast Cell Activation ◽  
Abnormal Accumulation ◽  
Mast Cell Leukemia

Mastocytosis is a rare disease due to the abnormal accumulation of mast cells in various tissues. Its clinical presentation is heterogeneous depending on mast cell infiltration and mediators release. In some cases, it is associated with hematological malignancies. Prognosis varies from very good with a life expectancy similar to the general population in indolent forms of the disease to a survival time of just a few months in mast cell leukemia. Although in most cases a somatic KIT D816V mutation is found in tumor mast cells, the physiopathology of the disease is not yet fully understood. Additional germline and somatic mutations may explain this heterogeneity. Treatments aim at blocking effect of mast cell mediators, reducing mast cell activation and tumor burden. New drugs mainly directed against the tyrosine kinase activity of KIT have dramatically changed the quality of life and prognosis of mast cell diseases. Present and future therapeutic strategies are discussed in this review.

Validation of the REMA Score for Predicting Systemic Mastocytosis in Patients with Mast Cell Activation Disorders

2011 ◽  
Vol 127 (2) ◽  
pp. AB248-AB248
Author(s):  
I. Alvarez-Twose ◽  
D. González-de-Olano ◽  
L. Sánchez-Muñoz ◽  
A. Matito ◽  
J. Morgado ◽  
...  
Keyword(s):  
Mast Cell ◽  
Cell Activation ◽  
Systemic Mastocytosis ◽  
Mast Cell Activation
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