Case Of Systemic Mastocytosis Research Articles

Indolent systemic mastocytosis associated with light chain deposition disease

Systemic mastocytosis (SM) is characterized by infiltration of neoplastic mast cells in one or more organ systems. SM in association with plasma cell dyscrasia is very rare. We report a first case of indolent SM (ISM) associated with light chain deposition disease (LCDD) in a kidney biopsy from a 59-year-old female presenting with skin rash, elevated serum creatinine, hematuria and mild proteinuria. Subsequent workup demonstrated IgG kappa monoclonal protein in serum and urine. A bone marrow biopsy revealed neoplastic mast cells involving bone marrow without evidence of clonal myeloid or lymphoid proliferation. Kidney biopsy demonstrated modest mesangial expansion detected by light microscopy and unequivocal evidence of monoclonal kappa light chain deposition within glomerular capillaries, tubular basement membranes and vascular walls detected by immunofluorescence and/or electron microscopy, along with equivocal evidence of light chain cast nephropathy. Despite treatment with bortezomib and dexamethasone, her renal function was progressively declined over the next 6 months. This case is a reminder that SM can coincide with LCDD, which requires clinical suspicion and multimodality workup on a kidney biopsy including immunofluorescence and electron microscopy to reach the correct diagnosis.

Severe chronic diarrhea and maculopapular rash: A case report

Systemic mastocytosis (SM) is a heterogeneous disease of the bone marrow characterized by abnormal growth, accumulation and activation of clonal mast cells (MCs). We report a case of SM with multi-organ involvement. A 30-year-old man presented with diarrhea, flushing, maculopapular rash with itching and weight loss. The upper and lower gastrointestinal endoscopies showed macroscopic involvement of stomach and duodenum; mucosal samples from stomach, duodenum, colon and distal ileum showed mucosal infiltration by large, spindle-shaped MCs with abnormal surface molecule expression (CD2 and CD25), a picture fully consistent with SM, according to the World Health Organization diagnostic criteria. A computed tomography scan showed diffuse lymphadenopathy, hepatosplenomegaly and diffuse small bowel involvement. Bone marrow aspirate and biopsy were diagnostic for SM; serum tryptase levels were increased (209 ng/mL, normal values < 20 ng/mL). The conclusive diagnosis was smouldering SM. There were no therapeutic indications except for treatment of symptoms. The patient was strictly followed up because of the risk of aggressive evolution.

An elusive case of systemic mastocytosis

A 40 year old woman with recurrent “idiopathic” anaphylaxis was referred. Past history revealed a right ovarian mucinous cyst adenoma that was surgically removed. Medications included celebrex and alesse. Six months following the oopherectomy at age 15, she began to experience anaphylaxis every 2 months. Typically these occurred in late afternoon, not on an empty stomach, and half related to physical activity. During three reactions she self administered epinephrine that led to improvement within minutes. She had one biphasic reaction. She did recall being stung by a vespid but was asymptomatic. Her two – three hour reactions consisted of abdominal pain, nausea, vomiting, diarrhea, weakness, pruritis with flushing, and documented hypotension. Occasionally, there was nasal congestion, stridor, palpatations, presyncope. On two occasions she had syncope. There were no triggers including cholinergic, foods, and catamenial. Physical examination was unremarkable. She neither had Darier’s sign nor urticaria pigmentosa. Skin prick testing to common allergens was negative. Her serum tryptase was 8.3 ug/L. Tryptase immediately after a reaction was 33 ug/L. Normetanephrines, metanephrines, vanillymandelic acid, 5-hydroxyindoleacetic acid, 24 hour urine catecholamines for noradrenaline and dopamine, serum chromogranin A and calcitonin were all normal. Her CT abdomen and pelvis was normal. She continued to have episodes on ranitidine 150mg and ketotifen 4mg twice daily as well as cetirizine 20mg and singulair 10mg once daily. On bone marrow biopsy she met three WHO minor criteria for systemic mastocytosis: greater than 25% mast cells having cytologically atypical hypogranular spindle shapes; flow cytometry showing positive aberrant co-expression of CD25 and CD2 on mast cells; and mutational analysis of the c-kit gene being positive for the D816V C-KIT mutation. Tryptase at bone marrow aspiration was 7.6ug/L. In patients with idiopathic anaphylaxis, consider a bone marrow biopsy for systemic mastocytosis in spite of a negative physical exam and normal tryptase.

Successful Treatment of KIT D816V-positive, Imatinib-resistant Systemic Mastocytosis with Interferon-alpha

We describe a case of systemic mastocytosis associated with myelodysplastic syndrome. The bone marrow showed multifocal clusters of mast cells and myeloid dysplasia. Sequencing of the KIT DNA revealed a point mutation at codon 816 including a substitution of valine for aspartic acid (D816V). The patient's tumor did not respond to imatinib; however, interferon-alpha reduced the bone marrow mast cells and serum total tryptase. The patient remains alive at one year after the diagnosis without disease progression.

Systemic mastocytosis with associated myeloproliferative disease and precursor B lymphoblastic leukaemia with t(13;13)(q12;q22) involving FLT3

Systemic mastocytoses represent neoplastic proliferations of mast cells. In about 20% of cases systemic mastocytoses are accompanied by clonal haematopoietic non-mast cell-lineage disorders, most commonly myeloid neoplasms. A case of...

Systemic mastocytosis associated with small lymphocytic lymphoma: An incidental finding in a patient with invasive gastric adenocarcinoma

Mastocytosis comprises a heterogeneous group of disorders characterized by the abnormal growth and accumulation of mast cells in various tissues. We report an interesting case of systemic mastocytosis diagnosed incidentally in an omental lymph node in the setting of an invasive gastric adenocarcinoma. The Diff-Quick touch preparation of the lymph node revealed abundant single cells and loose aggregates of cells with round to oval nuclei and deeply basophilic granules. Monotonous proliferation of small mature lymphocytes and many eosinophils were also present in the background. No evidence of metastatic carcinoma was seen. The frozen section and permanent sections of lymph node showed partial to complete replacement of lymph node by neoplastic mast cells. We present the cytologic findings of this unique case in addition to a brief discussion of systemic mastocytosis in the setting of another malignancy.

Systemic Mastocytosis Mimicking Inflammatory Bowel Disease: A Case Report and Discussion of Gastrointestinal Pathology in Systemic Mastocytosis

Gastrointestinal (GI) symptoms are present in up to 80% of patients with systemic mastocytosis (SM). GI symptoms include mainly abdominal pain, diarrhea, nausea, and vomiting. It is believed that most of the GI symptoms are due to the secondary effect of mast cell mediators on the GI tract. Direct involvement of the GI tract by neoplastic mast cell infiltration has not been well documented. We report a case of SM that initially mimicked inflammatory bowel disease based on clinical, radiographic, endoscopic, and histopathologic findings. On routine histologic sections of small bowel and colonic mucosal biopsies, there was expansion of the lamina propria by mononuclear inflammatory cells, foci of erosions with associated acute inflammation, and evidence of chronic mucosal injury with architectural distortion and gland foreshortening. Only on repeat biopsies and with ancillary tests for mast cells was a diagnosis of SM made, with extensive involvement of the GI tract. This is the first reported case of SM presenting as and mimicking inflammatory bowel disease. It is critical that clinicians and pathologists are aware that neoplastic mast cells in patients with SM can infiltrate the mucosa throughout the GI tract and that this infiltration can lead to symptoms and findings that can mimic inflammatory bowel disease.

An unusual case of systemic mastocytosis associated with chronic lymphocytic leukaemia (SM-CLL)

Aims: Whereas focal accumulations of reactive lymphocytes around mast cell (MC) infiltrates are often seen in indolent systemic mastocytosis (ISM) involving the bone marrow, an association of systemic mastocytosis (SM)...

Systemic mastocytosis (SM) associated with chronic eosinophilic leukemia (SM-CEL): Detection of FIP1L1/PDGFRα, 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/PDGFRα 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/PDGFRα fusion gene. Because of the availability of a superior targeted drug (imatinib), it is of importance to screen for FIP1L1/PDGFRα in suspected CEL with or without co-existing SM.

Delineation of Patterns of Bone Marrow Mast Cell Infiltration in Systemic Mastocytosis

In most cases, the diagnosis of systemic mastocytosis (SM) is based on histomorphologic evaluation of the bone marrow. We analyzed mast cell (MC) infiltration patterns in 57 cases of SM and 31 cases of mast cell hyperplasia (MCH). Tryptase immunohistochemical analysis was used for MC detection and CD25 to distinguish neoplastic from normal MCs. The following infiltration patterns were found: I, diffuse interstitial; II, focal, dense; III, focal, dense with an additional diffuse component, located preferentially around focal infiltrates; IV, focal, dense with an additional diffuse component evenly distributed throughout; and V, diffuse, dense. In 29 cases of MCH, MCs formed the type I pattern. The majority of SM cases exhibited patterns II to V; type IV was the most frequent (n = 36). Type V was seen in 3 cases of MC leukemia and 1 case of smoldering SM. In 1 case of SM, type I infiltration was found; the SM diagnosis was based on 3 minor SM criteria. Our data show that the infiltration pattern in SM correlates with the disease subtype and should be recognized as an important aspect in the histomorphologic evaluation of the bone marrow.

A case of systemic mastocytosis associated with severe osteoporosis and pathologic fractures

We describe the case of a 56-year-old man with rapidly progressive osteoporosis culminating in pathologic fractures of multiple lumbar vertebrae. With the exception of discrete brown-reddish cutaneous lesions, low back pain was the only prominent symptom. Laboratory evaluations excluded metabolic or endocrinological abnormalities. Serum tryptase was highly increased, as was urinary excretion of histamine. Iliac crest biopsy demonstrated mastocytosis, which was confirmed by skin biopsy and which was consistent with teleangiectasia macularis eruptiva perstans, a rare form of cutaneous mastocytosis. In cases of unusually marked osteoporosis, especially in men, mastocytosis should be considered in the differential diagnosis.

Systemic mastocytosis with involvement of the pelvis: A radiographic and clinicopathologic study—a case report

The musculoskeletal manifestations of systemic mastocytosis have been decribed in the literature. We present a case of systemic mastocytosis involving the pelvis. Conventional radiographs and CT imaging may demonstrate diffuse sclerotic, or mixed lytic and sclerotic lesions. On MRI, the lesions, if sclerotic, may show low signal on T1- and T2-weighted images. However, if lytic, the lesions may demonstrate low signal on T1, and increased signal on T2. As there are numerous disease entities included within the differential diagnosis, the clinical and pathological findings are crucial for establishing the correct diagnosis.

Osteopenia, Osteonecrosis, and Mastocytosis

Systemic mastocytosis has been defined as an abnormal increase in mast cells in tissues other than the skin. We report an unusual case of systemic mastocytosis that was manifested by osteopenia and osteonecrosis, and was associated with pancreatic adenocarcinoma. Our experience suggests that osteopenia and compression fractures may be the presenting features of mastocytosis and that a careful search for a malignancy is warranted in these patients.

Endoscopic findings in systemic mastocytosis

Systemic mastocytosis is an uncommon disease caused by a proliferation of mast cells with cutaneous and systemic manifestations. Its most common clinical presentation is the cutaneous form, urticaria pigmentosa. Mast cell infiltrations most commonly involve skin, but may also be seen in bone, liver, spleen, and the gastrointestinal tract. Presenting gastrointestinal symptoms are widely variable, but most commonly include abdominal pain and diarrhea. 1 Cherner JA Jensen RT Dubois A et al. Gastrointestinal dysfunction in systemic mastocytosis. Gastroenterology. 1988; 95: 657-667 Abstract Full Text PDF PubMed Scopus (133) Google Scholar Gastroscopic findings in systemic mastocytosis have been previously reported. 2 Borda F Uribarrena R Rivero-Puenta A. Gastroscopic findings in systemic mastocytosis. Endoscopy. 1983; 15: 342-343 Crossref PubMed Scopus (5) Google Scholar We describe a case of systemic mastocytosis with colonoscopic and histologic findings.

Ostéoporose révélatrice d'une mastocytose. Apport de l'imagerie et intérêt diagnostique de la biopsie osseuse

Mastocytosis represents a spectrum of clinical disorders that results from an aberrant proliferation of tissue mast cells. We report a case of systemic mastocytosis revealed by a reticulated osteoporosis.

A case of systemic mastocytosis; therapeutic efficacy of ketotifen

A 68-year-old man presented with a 6-month history of fatigue, rhinorrhoea, pruritic skin lesions, left pleural effusion, ascites, oedema and weight loss of 10 kg. Investigations revealed hepatosplenomegaly, retroperitoneal lymphadenopathy, anaemia, leucocytosis with eosinophilia, hypoprothrombinaemia, hypocholesterolaemia and elevation of both gamma glutamyltransferase and alkaline phosphatase. Biopsies of a skin lesion, bone marrow and liver revealed mast cell infiltration, allowing the diagnosis of systemic mastocytosis (SM). Hydroxyzine plus ranitidine were given without success. Hydroxyzine treatment was stopped, and ketotifen was initiated; substantial symptomatic improvement was observed within 8 d. This case report indicates the effectiveness of ketotifen in the symptomatic treatment of SM.

Short-Term Effects of the Long-Acting Somatostatin Analogue SMS 201-995 in Five Cases of APUDoma (Four with Metastases) and in One Case of Systemic Mastocytosis

Short-Term Effects of the Long-Acting Somatostatin Analogue SMS 201-995 in Five Cases of APUDoma (Four with Metastases) and in One Case of Systemic Mastocytosis

Portal hypertension associated with systemic mastocytosis and splenomegaly

An unusual case of systemic mastocytosis with splenomegaly, portal hypertension, and bleeding esophageal varices is presented. Arteriograms and liver biopsy suggested the mechanism of the portal hypertension was due to increased blood flow in the splenic vein, although splenic arteriovenous shunting secondary to histamine release and increased intrahepatic resistance secondary to mast cell infiltration might have played a role. The portal hypertension was relieved by splenectomy.

Systemic mastocytosis in a cat: remission after splenectomy.

ABSTRACTA case of systemic mastocytosis is recorded in a 12‐year old cat. After splenectomy, the mast cells disappeared from the body and normal health was regained for 7 months but the cat died during the eighth month after surgery.

Systemic Mastocytosis: a Case Report

A case of systemic mastocytosis with unusual clinical manifestations, appearing as an isolated splenohepatomegaly, is described. The proliferative character is evident from the cytological characteristics of immaturity and the presence of a moderate percentage of mast cells in the peripheral blood. These cells make up 40% of the total cells in the bone marrow. Special attention is given to the optical, morphological, cytochemical, and ultrastructural studies of the disease. Some anomalies were found at the subcellular level which apparetnly have not been recorded until present. Various dyshematopoietic features of this case are reported, which may be considered as manifestations of a paraneoplastic syndrome.