BACKGROUND Mast cell leukemia(MCL),a subtype of systemic mastocytosis(SM),is an extremely rare clinical entity characterized by a very poor prognosis.Chemotherapy,tyrosine kinase inhibitors,and allogeneic hematopoieti...BACKGROUND Mast cell leukemia(MCL),a subtype of systemic mastocytosis(SM),is an extremely rare clinical entity characterized by a very poor prognosis.Chemotherapy,tyrosine kinase inhibitors,and allogeneic hematopoietic cell transplantation are the only treatment options,but they cannot provide the desired outcomes in most cases of MCL.However,other types of SM can be successfully treated.The disease has no specific manifestation,but gastroenterological symptoms are present in most cases.CASE SUMMARY The authors,hereby,report a case of a 46-year-old female patient diagnosed with MCL-the rarest subtype of SM.The patient presented to the gastroenterology clinic with multiple,various,and unspecific gastroenterological symptoms.Concomitance of skin lesions significantly contributed to a relatively prompt diagnosis.The serum tryptase level was extremely high and bone the marrow aspirate showed an infiltration of atypical mast cells.The disease was rapidly progressive and primary refractory to chemotherapy and the patient succumbed to the illness about a month after the initiation of treatment.CONCLUSION Despite its“hematological nature”,MCL,in most cases presents dominantly with unspecific gastroenterological symptoms.Thus,a high disease awareness among physicians other than hematologists is necessary to improve treatment outcomes.Serum tryptase level,due to its non-invasive nature and easy access,may serve as an initial step to estimate the probability of mastocytosis.展开更多
As recognition of mast cell(MC) involvement in a range of chronic inflammatory disorders has increased, diagnosticians' suspicions of MC activation disease(MCAD) in their chronically mysteriously inflamed patients...As recognition of mast cell(MC) involvement in a range of chronic inflammatory disorders has increased, diagnosticians' suspicions of MC activation disease(MCAD) in their chronically mysteriously inflamed patients have similarly increased. It is now understood that the various forms of systemic mastocytosis- diseases of inappropriate activation and proliferation of MCs seemingly driven by a small set of rare, usually constitutively activating mutations in assorted MC regulatory elements-comprise merely the tip of the MCAD iceberg, whereas the far larger and far more clinically heterogeneous(and thus more difficult to recognize) bulk of the iceberg consists of assorted forms of MC activation syndrome(MCAS) which manifest little to no abnormal MC proliferation and may originate from a far more heterogeneous set of MC mutations. It is reasonable to suspect MCAD when symptoms and signs of MC activation are present and no other diagnosis better accounting for the full range of findings is present. Initial laboratory assessment should include not only routine blood counts and serum chemistries but also a serum total tryptase level, which helps direct further evaluation for mastocytosis vs MCAS. Appropriate tissue examinations are needed to diagnose mastocytosis, while elevated levels of relatively specific mast cell mediators are sought to support diagnosis of MCAS. Whether assessing for mastocytosis or MCAS, testing is fraught with potential pitfalls which can easily yield false negatives leading to erroneous rejection of diagnostic consideration of MCAD in spite of a clinical history highly consistent with MCAD. Efforts at accurate diagnosis of MCAD are worthwhile, as many patients then respond well to appropriately directed therapeutic efforts.展开更多
文摘BACKGROUND Mast cell leukemia(MCL),a subtype of systemic mastocytosis(SM),is an extremely rare clinical entity characterized by a very poor prognosis.Chemotherapy,tyrosine kinase inhibitors,and allogeneic hematopoietic cell transplantation are the only treatment options,but they cannot provide the desired outcomes in most cases of MCL.However,other types of SM can be successfully treated.The disease has no specific manifestation,but gastroenterological symptoms are present in most cases.CASE SUMMARY The authors,hereby,report a case of a 46-year-old female patient diagnosed with MCL-the rarest subtype of SM.The patient presented to the gastroenterology clinic with multiple,various,and unspecific gastroenterological symptoms.Concomitance of skin lesions significantly contributed to a relatively prompt diagnosis.The serum tryptase level was extremely high and bone the marrow aspirate showed an infiltration of atypical mast cells.The disease was rapidly progressive and primary refractory to chemotherapy and the patient succumbed to the illness about a month after the initiation of treatment.CONCLUSION Despite its“hematological nature”,MCL,in most cases presents dominantly with unspecific gastroenterological symptoms.Thus,a high disease awareness among physicians other than hematologists is necessary to improve treatment outcomes.Serum tryptase level,due to its non-invasive nature and easy access,may serve as an initial step to estimate the probability of mastocytosis.
文摘As recognition of mast cell(MC) involvement in a range of chronic inflammatory disorders has increased, diagnosticians' suspicions of MC activation disease(MCAD) in their chronically mysteriously inflamed patients have similarly increased. It is now understood that the various forms of systemic mastocytosis- diseases of inappropriate activation and proliferation of MCs seemingly driven by a small set of rare, usually constitutively activating mutations in assorted MC regulatory elements-comprise merely the tip of the MCAD iceberg, whereas the far larger and far more clinically heterogeneous(and thus more difficult to recognize) bulk of the iceberg consists of assorted forms of MC activation syndrome(MCAS) which manifest little to no abnormal MC proliferation and may originate from a far more heterogeneous set of MC mutations. It is reasonable to suspect MCAD when symptoms and signs of MC activation are present and no other diagnosis better accounting for the full range of findings is present. Initial laboratory assessment should include not only routine blood counts and serum chemistries but also a serum total tryptase level, which helps direct further evaluation for mastocytosis vs MCAS. Appropriate tissue examinations are needed to diagnose mastocytosis, while elevated levels of relatively specific mast cell mediators are sought to support diagnosis of MCAS. Whether assessing for mastocytosis or MCAS, testing is fraught with potential pitfalls which can easily yield false negatives leading to erroneous rejection of diagnostic consideration of MCAD in spite of a clinical history highly consistent with MCAD. Efforts at accurate diagnosis of MCAD are worthwhile, as many patients then respond well to appropriately directed therapeutic efforts.
