Mastocytosis is a rare disorder that results from the clonal proliferation of abnormal mast cells which accumulates in the skin and extracutaneous organs. Its prevalence is estimated at 1 in 10,000 persons. Cutaneous mastocytosis occurs in less than 5% of adults while adult-onset mastocytosis is suggestive of systemic progression. Involvement of the gastrointestinal tract occurs in 14-85% of patients diagnosed with systemic mastocytosis. This case involves a 72-year-old female previously diagnosed with cutaneous mastocytosis who presented with gastrointestinal symptoms fifteen years later. Workups done included CT scan, colonoscopy, and bone marrow aspiration. Colonic and bone marrow tissue samples revealed eosinophilia with CD117 positivity. The patient was started on therapy with imatinib. No recurrence of hematochezia was observed on follow-up.

Humans ; Mastocytosis, Systemic ; Retrospective Studies ; Proto-Oncogene Proteins c-kit

Humans ; Lymph Nodes ; Mastocytosis, Systemic ; Stomach

Mastocytosis is a disorder characterized by abnormal mast cell proliferation and accumulation in one or more tissues. It presents in two major variants: cutaneous mastocytosis and systemic mastocytosis. Because the symptoms are related to mast cells, histamine receptor antagonists and leukotriene receptor antagonists are recommended as therapeutic options. Here, we report a 54-year-old male patient with a history of urticaria pigmentosa who presented with recurrent anaphylaxis. His serum tryptase level was 31.7 ng/mL and mast cell infiltration was observed in his bone marrow. He had frequent attacks of anaphylaxis despite treatment with ketotifen, levocetirizine, and montelukast. Symptoms related to systemic mastocytosis were controlled and the patient exhibited no recurrence of anaphylaxis following the introduction of monthly omalizumab injection. Omalizumab can be considered as a treatment option in patients with systemic mastocytosis unresponsive to conventional oral medications.
Anaphylaxis ; Bone Marrow ; Humans ; Ketotifen ; Leukotriene Antagonists ; Male ; Mast Cells ; Mastocytosis ; Mastocytosis, Cutaneous ; Mastocytosis, Systemic ; Middle Aged ; Omalizumab ; Receptors, Histamine ; Recurrence ; Tryptases ; Urticaria Pigmentosa

Mastocytosis is a rare disease which occurs in both children and adults, and it can manifest as a solitary or multiple skin lesions. Both can cause cutaneous or systemic symptoms. Because of the heterogeneity of clinical presentation of mastocytosis and its rare prevalence, it can be hard to suspect the mastocytosis at the first time. Most solitary mastocytomas are about 1–5 cm in diameter and have features of brownish-yellow, minimally elevated plaques with a smooth shiny surface. This article presents a case of solitary mastocytoma which occurred in neonate and that we treated through surgical excision. In histopathological examination, it consisted of c-kit-positive mast cells. Although pediatric cutaneous mastocytosis might regress spontaneously, clinicians should keep in mind that it could be associated with systemic mastocytosis which involves hematopoietic system.
Adult ; Child ; Hematopoietic System ; Humans ; Infant, Newborn ; Mast Cells ; Mastocytoma* ; Mastocytosis ; Mastocytosis, Cutaneous ; Mastocytosis, Systemic ; Parturition* ; Population Characteristics ; Prevalence ; Rare Diseases ; Skin

No abstract available.
Flow Cytometry* ; Mastocytosis, Systemic* ; Splenomegaly*

No abstract available.
Hypereosinophilic Syndrome* ; Mastocytosis, Systemic*

BACKGROUND: Mast cell leukemia (MCL) is the most aggressive form of systemic mastocytosis disorders. Owing to its rarity, neither pathogenesis nor standard treatment is established for this orphan disease. Hence, we tried to treat a patient with MCL based on the exome and transcriptome sequencing results of the patient's own DNA and RNA. METHODS: First, tumor DNA and RNA were extracted from bone marrow at the time of diagnosis. Germline DNA was extracted from the patient's saliva 45 days after induction chemotherapy and used as a control. Then, we performed whole-exome sequencing (WES) using the DNA and whole transcriptome sequencing (WTS) using the RNA. Single nucleotide variants (SNVs) were called using MuTect and GATK. Samtools, FusionMap, and Gene Set Enrichment Analysis were utilized to analyze WTS results. RESULTS: WES and WTS results revealed mutation in KIT S476I. Fusion analysis was performed using WTS data, which suggested a possible RARα-B2M fusion. When RNA expression analysis was performed using WTS data, upregulation of PIK3/AKT pathway, downstream of KIT and mTOR, was observed. Based on our WES and WTS results, we first administered all-trans retinoic acid, then dasatinib, and finally, an mTOR inhibitor. CONCLUSION: We present a case of orphan disease where we used a targeted approach using WES and WTS data of the patient. Even though our treatment was not successful, use of our approach warrants further validation.
Bone Marrow ; Diagnosis ; DNA ; Exome ; Humans ; Precision Medicine ; Induction Chemotherapy ; Leukemia ; Leukemia, Mast-Cell* ; Mast Cells* ; Mastocytosis, Systemic ; Rare Diseases ; RNA ; Saliva ; Transcriptome ; Tretinoin ; Up-Regulation ; Dasatinib

Anaphylaxis is a severe and life-threatening systemic reaction. Despite the extensive evaluation to determine the cause, 30%-60% of cases of anaphylaxis in adults remain idiopathic. Recently, omalizumab treatment has been postulated to treat refractory idiopathic anaphylaxis. We report a case of idiopathic anaphylaxis treated with omalizumab and investigated its pharmacological mechanism. A 66-year-old female presented to our clinic with recurrent anaphylaxis. She suffered from anaphylaxis 2-3 times a month for 6 months. She had past medical history of nonallergic bronchial asthma. History was carefully undertaken and anaphylaxis was not related to any specific foods, drugs, exercise, and insect bites. Serum specific IgE antibodies to common food allergens showed negative results. Oral provocation tests to food additives revealed to be negative. To screen systemic mastocytosis and mast cell activating syndrome, baseline tryptase level was checked, and it was within normal range. From comprehensive evaluation, she was diagnosed as having idiopathic anaphylaxis. She could not tolerate oral medications due to gastrointestinal discomfort, therefore, omalizumab treatment (150 mg, monthly) was started. After 6 months of treatment, anaphylaxis did not occur with complete remission status. To evaluate the pharmacological mechanism of omalizumab treatment, basophil histamine releasability test was performed. Histamine releasability induced by anti-IgE did not change after 6 months of treatment, while that induced by calcium inophore decreased. Omalizumab treatment can induce remission or favorable effects on idiopathic anaphylaxis, which may be derived from increased threshold of mast cell degranulation. Long-term studies in a larger cohort will be needed to confirm its efficacy.
Adult ; Aged ; Allergens ; Anaphylaxis* ; Antibodies ; Asthma ; Basophils ; Calcium ; Cohort Studies ; Female ; Food Additives ; Histamine ; Humans ; Immunoglobulin E ; Insect Bites and Stings ; Mast Cells ; Mastocytosis, Systemic ; Reference Values ; Tryptases ; Omalizumab

Humans ; Mastocytosis, Systemic