1/7. Evolution of urticaria pigmentosa into indolent systemic mastocytosis: abnormal immunophenotype of mast cells without evidence of c-kit mutation ASP-816-VAL.mastocytosis comprises a heterogeneous group of hematological disorders which are morphologically defined by proliferation and accumulation of tissue mast cells in one or more organs. Clinical manifestations of mastocytosis range from disseminated maculopapular skin lesions (= urticaria pigmentosa [UP]) that may spontaneously regress to highly aggressive neoplasms like mast cell leukemia or mast cell sarcoma. Recently, it could be shown that systemic mastocytosis (SM) is a clonal disorder often exhibiting mutations of c-kit, a protooncogene encoding the tyrosine kinase receptor for stem cell factor (SCF). Mutations of c-kit are considered to play a key role in the pathogenesis of mastocytosis. Therefore, we investigated the unique case of a 36 year-old male patient with indolent systemic mastocytosis (ISM) evolving from UP (cutaneous mastocytosis) by means of histology, immunophenotyping and molecular biology. At the time of initial diagnosis the bone marrow showed only a mild diffuse increase in mast cells but compact infiltrates were missing. The serum tryptase levels were normal. Five years later, however, the bone marrow histology displayed patchycompact mast cell infiltrates, which now allowed to establish the diagnosis of an ISM. The serum tryptase levels at this time were markedly elevated. At both time points, mast cells were analyzed by immunohistochemistry using anti-tryptase antibody AA1, by flow cytometry using antibodies against CD2 and CD25, and nested polymerase chain reaction (PCR) on laser-microdissected, single pooled mast cells. immunohistochemistry revealed strong tryptase-positivity of mast cells in both cutaneous and bone marrow infiltrates. flow cytometry yielded an aberrant expression of CD2 and CD25 on bone marrow mast cells. However, repeated thorough PCR analysis failed to unveil c-kit mutation in atypical mast cells of skin and bone marrow samples of both dates. These findings clearly show that ISM can evolve from UP. Moreover, our study provides further evidence that the c-kit mutation Asp-816-Val is not invariably present in ISM.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
2/7. Response to therapy with interferon alpha-2b and prednisolone in aggressive systemic mastocytosis: report of five cases and review of the literature.Aggressive systemic mastocytosis (ASM) is a hematopoietic neoplasm characterized by infiltration of visceral organs by neoplastic mast cells (MCs) with consecutive organopathy and respective clinical and laboratory findings (so called C-Findings). Whereas, it is generally appreciated that patients with ASM are candidates for pharmacological intervention, no ideal drug or drug combination have been identified yet. One drug proposed to work in ASM is interferon alpha-2b (IFN-alpha2b). However, little is known so far about the quality of responses to IFN-alpha2b and actual response rates. We here report on five ASM patients treated with either a combination of IFN-alpha2b (3x3 million units per week) and prednisolone (n=4), or IFN-alpha2b alone (n=1). During therapy, two of the five patients showed a major response defined by complete resolution of C-Finding(s), one a partial response (partial regression of C-Findings), and one a stable disease (no changes in C-Findings). In one patient, progression to mast cell leukemia was seen after 3 months. In contrast to the other patients, this patient exhibited >10% MCs in his bone marrow (bm) smear at first presentation. In summary, our data confirm beneficial effects of IFN-alpha2b (plus prednisolone) for a group of patients with ASM, whereas patients with mast cell leukemia may require more aggressive therapy. Prospective trials with more patients are now required to further document these drug effects and to better define subgroups of patients with ASM who show good and long-lasting responses to IFN-alpha2b.- - - - - - - - - - ranking = 2keywords = organ (Clic here for more details about this article) |
3/7. Acute spinal epidural hematoma and systemic mastocytosis.BACKGROUND: Systemic mastocytosis is a mast cell proliferative disorder affecting many organs that is rarely associated with internal bleeding. OBJECTIVE: To describe a case of spinal epidural hematoma in a patient with past medical history of urticaria pigmentosa and osteoporosis diagnosed with systemic mastocytosis. CASE REPORT: A 63-year-old woman with urticaria pigmentosa was admitted to hospital for severe back pain after minor trauma. physical examination showed pain on pressing T12 and L1 spinous processes, bilateral Lasegue sign, absent ankle jerk, and extensor plantar response. Computed tomography disclosed L3 fracture, and magnetic resonance imaging revealed spinal epidural hematoma and T2 hyperintensive scattered vertebral foci that suggested malignancy. The 24-hour urine histamine was very high. Mast cell infiltration was found in bone marrow biopsy. Because power was normal and there was no clinical sphincter disorder, the patient was successfully treated with conservative care. CONCLUSIONS: To our knowledge, acute intraspinal epidural hematoma has never been associated with mastocytosis. The hematoma was likely related to the vertebral fracture as well as a hemorrhagic diathesis due to anticoagulants released by local mast cells.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
4/7. Aggressive systemic mastocytosis: a case report and brief review of the literature.Aggressive Systemic mastocytosis (ASM), a rare subtype of Systemic mastocytosis (SM), results from clonal proliferation and invasion of multiple organs by neoplastic mast cells. The clinical presentation varies, dependent on which organ systems are involved, and may take an indolent or rapidly fatal course. Several treatment strategies have been proposed. The most effective treatment, though not curative, is a combination of glucocorticoids and alpha-interferon 2b (IFN-alpha). We present a case report of ASM to demonstrate the clinical presentation, laboratory findings, and therapeutic response to treatment.- - - - - - - - - - ranking = 2keywords = organ (Clic here for more details about this article) |
5/7. Involvement of the jaw bones in systemic mastocytosis.Systemic mastocytosis is characterised by proliferation of mast cells and infiltration of organs. Severe bony pain may result from release of chemical mediators from mast cells and affected patients are at an increased risk of anaphylaxis. Traditional analgesics such as non-steroidal anti-inflammatory agents and opioids are contraindicated. diagnosis is based on presentation, biopsy of bone marrow, and magnetic resonance imaging of the affected area. In the head and neck, the disease may present as facial pain, localised osteomyelitis, oral sinus formation, and oral ulceration. Treatment is with histamine antagonists and bisphosphonates to control symptoms. An adrenaline pen is provided for use in case of anaphylaxis.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
6/7. Bone graft and implants in a patient with systemic mastocytosis.BACKGROUND: Systemic mastocytosis (mast-cell proliferation in various organs, including the skeleton) is a rare disease. Reports on mastocytosis that affects facial bones are few. The bone lesions may be osteolytic or sclerotic. PURPOSE: To describe (for the first time) bone grafting followed by dental implant treatment yielding a good result in a patient with systemic mastocytosis. MATERIALS AND methods: A bone graft was performed on a 60-year-old woman with systemic mastocytosis. Dental implant treatment was performed 13 weeks after sclerotic bone of the iliac crest was grafted to the maxillary sinus bilaterally. A microimplant was installed simultaneously with the dental implants and was removed 6 months later for histomorphometric evaluation. Bone biopsy specimens from the donor site of the sclerotic iliac crest and later from the remodeled maxillary bone graft were histologically analyzed. A clinical examination of the patient with regard to her mastocytosis was performed by a dermatologist. The patient was followed up after 3 years. RESULTS: Bone grafting and dental implant treatment were successful, and the patient's clinical and radiologic situation was stable after 3 years. Histologic examination of the bone grafted from the iliac crest showed sclerotic lesions in the bone and a dense infiltration of mast cells. The bone graft seemed to remodel initially in a normal way in the maxillary sinus. However, computed tomography 3 years later showed regions of sclerosis in the remodeled maxillary bone. These lesions now had a pattern similar to the adjacent facial bone. Both the microimplant and the dental implants integrated well. Bone-implant contact measured on the microimplants was 20% higher in this actual case, compared to that of patients previously treated and grafted with the same technique. CONCLUSIONS: There are many clinical implications to be considered when treating this group of patients. Bone grafting, remodeling of the bone, and dental implant installation were successful in this patient with systemic mastocytosis and signs of osteosclerosis. Installation of microimplants in patients with pathologic bone conditions may allow successful dental implant treatment.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
7/7. Systemic mastocytosis (SM) associated with chronic eosinophilic leukemia (SM-CEL): detection of FIP1L1/PDGFRalpha, classification by WHO criteria, and response to therapy with imatinib.Based on generally accepted criteria and the WHO-classification, a subset of patients with systemic mastocytosis (SM) have (or develop) an associated clonal hematologic non-mast cell lineage disease (SM-AHNMD). We describe a case of SM with coexisting chronic eosinophilic leukemia (SM-CEL). The patient, a 51-year-old male, was first seen in 1992 with small-sized infiltrates of spindle-shaped mast cells in his marrow, and marked eosinophilia. Retrospectively, a CHIC2 deletion and the FIP1L1/PDGFRalpha fusion gene-product were demonstrable by FISH analysis and RT-PCR, respectively. SM-associated organopathy or mediator-related symptoms were not recorded. However, the patient developed cardiomyopathy. Therapy with interferon-alpha, hydroxyurea, and corticosteroids were without effects. By contrast, therapy with imatinib was followed by a fast and sustained response with complete and stable regression of eosinophilia, drop in eosinophil cationic protein, and decrease of serum tryptase to normal levels. This case provides further evidence for the potential of co-existence of SM with a primary eosinophilic disorder (CEL) defined by the FIP1L1/PDGFRalpha fusion gene. Because of the availability of a superior targeted drug (imatinib), it is of importance to screen for FIP1L1/PDGFRalpha in suspected CEL with or without co-existing SM.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |