Chronic myeloid leukemia and systemic mastocytosis are myeloid neoplasms sharing a number of pathogenetic and clinical features. In both conditions, an aberrantly activated oncoprotein with tyrosine kinase activity, namely BCR-ABL1 in chronic myeloid leukemia, and mutant KIT, mostly KIT D816V, in systemic mastocytosis, is key to disease evolution. The appreciation of the role of such tyrosine k...

BACKGROUND Mastocytosis is a clonal disorder characterized by the accumulation of abnormal mast cells in the skin and/or in extracutaneous organs. OBJECTIVES To present all cases of mastocytosis seen in the Porto Hospital Center and evaluate the performance of World Health Organization diagnostic criteria for systemic disease. METHODS The cases of twenty-four adult patients with mastocytosi...

BACKGROUND Mastocytosis is either cutaneous (with skin-limited proliferation of mast cells) or systemic (with mast cells in extracutaneous sites). The onset of solitary mastocytoma in an adult is rare. PURPOSE A woman with the new onset of solitary mastocytoma is described. The clinical features of patients with adult-onset solitary mastocytoma are summarized. Recommendations for the evaluati...

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. D...

Mastocytosis is a myeloproliferative neoplasm characterized by clonal expansion of abnormal mast cells, ranging from the cutaneous forms of the disease to mast cell leukemia. In a significant proportion of patients, systemic mastocytosis (SM) coexists with another hematologic malignancy, termed systemic mastocytosis with an associated hematologic nonmast cell lineage disorder (SM-AHNMD). Despit...

Systemic mastocytosis is characterized by abnormal growth and accumulation of mast cells in various organs. Gastrointestinal (GI) symptoms are common disease manifestations in this disease and can significantly impair the quality of life. Signs of GI systemic mastocytosis include steatorrhea, malabsorption, hepatomegaly, splenomegaly, portal hypertension, and ascites. Acute appendicitis as a pr...

INTRODUCTION The association between anaphylactic reactions and systemic mastocytosis is well documented. However, platelet transfusion has not previously been reported as a potential elicitor of anaphylaxis in the context of systemic mastocytosis. CASE PRESENTATION We describe the clinicopathological findings of a 59-year-old Latin American man who presented to the emergency room with fatigu...

CONTEXT Systemic mastocytosis is defined as a clonal disorder of mast cells and their precursor cells and is currently classified as a myeloproliferative neoplasm. Its clinical course has a wide spectrum, ranging from indolent disease, with normal life expectancy, to highly aggressive disease, associated with multisystemic involvement and poor overall survival. The aim of this study was to repo...

Systemic mastocytosis is a rare condition that often involves the bone marrow. We report the case of a patient with systemic mastocytosis who underwent total hip replacement. Technical difficulties encountered during the procedure included a narrow medullary canal and abnormally hard bone, later confirmed by laboratory measurements. Follow-up at five years showed a good clinical and radiologica...

Abbreviations: BAT: Basophil Activation Test; CRTH2: G proteincoupled Receptor-44 or Chemoattractant Receptor Expressed on Th2 cells; EDTA-K3: Ethylene-Diamine-Tetracetic Acid; ENPP-3: Ectoenzyme ectonucleotide Pyrophosphatase/Phosphodiesterases 3; IL: Interleukin; ISM: Indolent Systemic Mastocytosis; LAMP: Lysosomal Membrane Proteins; MFI: Median Fluorescence Intensity; PGD2: Prostaglandin D2;...