Humans ; Mastocytosis, Systemic

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

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

Humans ; Lymph Nodes ; Mastocytosis, Systemic ; Stomach

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

Urticaria pigmentosa (UP) is the most common variant of cutaneous mastocytosis. Primarily a disease of childhood, in over one-half of the cases onset is before 2 years of age, and in 90%, the disease is confined to the skin. UP precedes the diagnosis of systemic mastocytosis and is more common in adults than in children. Therefore, systemic examination should be performed in patients with UP. We report a case of adult-onset UP with systemic involvement.
Adult ; Child ; Humans ; Mastocytosis, Cutaneous ; Mastocytosis, Systemic ; Skin ; Urticaria ; Urticaria Pigmentosa

Female ; Humans ; Infant ; Mastocytosis, Systemic ; diagnosis ; pathology ; therapy

Female ; Humans ; Infant, Newborn ; Mastocytosis, Systemic ; diagnosis ; pathology

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

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