Case Of Systemic Mastocytosis Research Articles

A rare case of systemic mastocytosis with t(8;21) acute myeloid leukaemia in a young girl: a case report

A rare case of systemic mastocytosis with t(8;21) acute myeloid leukaemia in a young girl: a case report

S3364 A Case of Systemic Mastocytosis Diagnosed Endoscopically

S3364 A Case of Systemic Mastocytosis Diagnosed Endoscopically

S2590 A Case of Systemic Mastocytosis With Rapid Progression to Liver Cirrhosis

S2590 A Case of Systemic Mastocytosis With Rapid Progression to Liver Cirrhosis

2466 Surprisingly Uncommon Trigger of Massive Ascites

INTRODUCTION: Systemic Mastocytosis (SM) is a group of disorders characterized by excessive mast cells accumulation into single or multiple organs. It affects mainly skin, but it may involve extracutaneous sites, such as the bone, liver, spleen, GI tract, and lymph node. If it involves the liver, it can lead to noncirrhotic portal hypertension. We present a case of systemic mastocytosis with an associated hematologic neoplasm (SM-AHN) that mimics a decompensated cirrhosis with massive ascites. CASE DESCRIPTION/METHODS: A 73-year-old male presented with progressive abdominal distention, lower extremity swelling for 3 months. Also, he had a poor appetite, 20 pounds of weight loss, shortness of breath, diarrhea, and recurrent skin bruises. He was a non-smoker, denied any alcohol or illicit drugs. Past medical history was remarkable for chronic myelomonocytic leukemia. Vitals were normal. Physical exam was remarkable for the presence of significant ascites & legs edema. Labs revealed ALP 456 U/L, ALT 33 U/L, AST 36 U/L, bilirubin 2.8 mg/dl, albumin 3.3 g/dl, Hgb 10.5 g/dl, WBC 3.9 k/uL, and Platelet 37 k/uL. Hepatitis A, B, and C serology was negative. The abdominal US showed normal liver morphology, splenomegaly, and ascites. The echocardiogram showed LVEF of 60% and no abnormalities. Paracentesis was performed with removal of 8.5 liters. The ascitic fluid analysis was negative for infection with a low total protein, and SAAG was >1.1. Trans-jugular liver biopsy was significant for HVPG 15 mmHg, and pathology showed dense portal and sinusoidal infiltration by clusters of atypical cells with relatively abundant cytoplasm and irregular nuclei. These atypical cells stained positive for CD117, CD 25, and mast cell tryptase by immunohistochemistry, consistent with systemic mastocytosis. Serum tryptase was 230. The patient was going to follow up with hematologist for cytoreductive therapy and evaluation for hematopoietic stem cell transplantation. DISCUSSION: Liver involvement in a patient with systemic mastocytosis is a poor prognostic factor associated with increased mortality due to disease progression. Our patient presented with massive ascites and hepatic involvement due to systemic mastocytosis with an associated hematologic neoplasm (SM-AHN). The diagnosis is with high clinical suspicion and aided with liver biopsy. The survival rate is months to a year in case of (SM-AHN). Early diagnosis could limit unnecessary management and lessen any potential harm.

1473 A Vanishing Cecal Mass

INTRODUCTION: Systemic mastocytosis (SM) is a rare disease characterized by infiltration of mast cells in extracutaneous organs. Although gastrointestinal (GI) manifestations such as nausea, vomiting, abdominal pain are observed in up to 60-80% of patients, colon lesions are rarely identified. Here we describe an unusual case of SM that manifested as a colon mass on routine screening colonoscopy. CASE DESCRIPTION/METHODS: A 71-year-old, asymptomatic, female with a long history of urticaria pigmentosa was referred to a gastroenterology clinic for evaluation of an eight by twelve centimeter, polypoid mass involving the cecum and ileocecal valve, found on screening colonoscopy. Subsequently, a CT scan noted mucosal hyperenhancement with slight vascular engorgement and colonic wall thickening involving the cecum and proximal ascending colon. Pathology from the initial biopsies revealed dense (>100 per high powered field) infiltration of mast cells that stained positive for CD117 and CD25 cell surface proteins. The initial, large, polypoid, cecal mass was not present on repeat colonoscopy with upper endoscopy. Instead, there was patchy nodular- appearing mucosa in the right colon. Follow-up biopsies of the upper and lower GI tract revealed dense infiltration of mast cells in the duodenum, ileum, ascending colon and transverse colon as well as elevated serum tryptase level (38 ug/L), all findings consistent with GI involvement of SM. Histamine-blocking therapy with ranitidine and cetirizine was commenced. DISCUSSION: Systemic mastocytosis results from a sporadic somatic mutation in the KIT gene that encodes a protein implicated in cell growth, division & survival that results in overproduction of mast cells that accumulate in organs. There are four subtypes of SM that range in severity from slow and indolent to rapidly progressive towards organ failure. It is important to recognize and categorize systemic involvement of mastocytosis to aid in prognosis and treatment. Frequently, GI symptoms are mild but can include more serious effects of mast cell infiltration including peptic ulcer disease, malabsorption and non-cirrhotic portal hypertension. Specifically important to gastroenterologists is the recognition of GI involvement of mastocytosis disorders and understanding of appropriate evaluation, including upper and lower endoscopy with random biopsies to identify mast cell infiltration. Although GI symptoms are frequent and result in endoscopic evaluation, there are only rare reports of colon masses.

Systemic mastocytosis associated with a haematological neoplasm – JAK2 mutated myelofibrosis: a case report

Aim: To discuss the morphological, immunohistochemical and molecular features of a case of systemic mastocytosis in a patient with JAK2 mutated myelofibrosis.

SYSTEMIC MASTOCYTOSIS WITH NORMAL BIOMARKERS. HOW VALUABLE ARE MAST CELL MEDIATORS IN IDENTIFYING DISEASE?

Introduction Systemic Mastocytosis (SM) is a disorder characterized by the excessive accumulation and activation of mast cells (MC) in various organs. Many biomarkers have proven to be helpful in disease screening and diagnosis. Namely, serum tryptase, urinary N-methylhistamine, leukotriene E4 (LTE4) and prostaglandin F2 alpha (PGF2α). Our purpose is to describe a case of Indolent SM (ISM) with normal MC biomarkers. Case Description This is a 30 y.o. female who presented with a 10-year history of headaches, clouding of consciousness, syncope, intermittent abdominal pain, nausea, diarrhea, bone pain, skin flushing and suspected episodes of anaphylaxis. Serum tryptase, 24-hour urinary N-methylhistamine, PGF2α and LTE4 were all within normal limits. Blood molecular studies confirmed KITD816V point mutation. Skin biopsy showed mastocytosis with features of telangiectasia macularis eruptiva perstans. Bone scan was consistent with bony remodeling for MC disease. Ultimately, bone marrow (BM) biopsy showed low-level (25%) exhibiting an atypical spindle shape morphology, immunohistochemistry detected aberrant CD5 and CD2 co-expression confirming SM. Discussion Cutaneous and ISM have a good prognosis with similar survival rates compared to the general population. However, close monitoring may be warranted in SM patients, since a low-rate progression has been reported. The relationship between biomarkers and symptomatology and MC burden is not completely understood nor are the sensitivities of the tests. In the right clinical setting, clinicians should proceed with bone marrow biopsy, immunohistochemistry and molecular studies for a prompt and accurate diagnosis regardless of the status of the above mentioned serum and urine MC biomarkers. Systemic Mastocytosis (SM) is a disorder characterized by the excessive accumulation and activation of mast cells (MC) in various organs. Many biomarkers have proven to be helpful in disease screening and diagnosis. Namely, serum tryptase, urinary N-methylhistamine, leukotriene E4 (LTE4) and prostaglandin F2 alpha (PGF2α). Our purpose is to describe a case of Indolent SM (ISM) with normal MC biomarkers. This is a 30 y.o. female who presented with a 10-year history of headaches, clouding of consciousness, syncope, intermittent abdominal pain, nausea, diarrhea, bone pain, skin flushing and suspected episodes of anaphylaxis. Serum tryptase, 24-hour urinary N-methylhistamine, PGF2α and LTE4 were all within normal limits. Blood molecular studies confirmed KITD816V point mutation. Skin biopsy showed mastocytosis with features of telangiectasia macularis eruptiva perstans. Bone scan was consistent with bony remodeling for MC disease. Ultimately, bone marrow (BM) biopsy showed low-level (25%) exhibiting an atypical spindle shape morphology, immunohistochemistry detected aberrant CD5 and CD2 co-expression confirming SM. Cutaneous and ISM have a good prognosis with similar survival rates compared to the general population. However, close monitoring may be warranted in SM patients, since a low-rate progression has been reported. The relationship between biomarkers and symptomatology and MC burden is not completely understood nor are the sensitivities of the tests. In the right clinical setting, clinicians should proceed with bone marrow biopsy, immunohistochemistry and molecular studies for a prompt and accurate diagnosis regardless of the status of the above mentioned serum and urine MC biomarkers.

A Case of Systemic Mastocytosis with Predominately Gastrointestinal Manifestations

A Case of Systemic Mastocytosis with Predominately Gastrointestinal Manifestations

A Case of Systemic Mastocytosis Presenting Initially with Weight Loss and Elevated Alkaline Phosphatase

Systemic mastocytosis (SM) is a myeloproliferative disorder characterized by increased numbers of abnormal mast cells that form aggregates in various tissues. Symptoms are related to dysregulated mast cell activation and organ dysfunction. We report a case of SM where the initial single complaint was weight loss with increased alkaline phosphatase (ALP) and gamma glutamyltransferase (GGT). A 64 year-old-man presented for evaluation of weight loss and increased ALP and GGT (Table 1). CT revealed mesenteric and retroperitoneal lymphadenopathy and PET showed mildly increased activity in the nodes. Endoscopic ultrasound demonstrated hypoechoic lymph nodes up to 32 mm in size. Fine needle aspiration revealed lymphocytes, histiocytes, mixed inflammatory cells, but no evidence of lymphoma. The patient developed abdominal pain and palpable hepatomegaly with rising ALP and GGT which prompted a liver biopsy. Biopsy showed portal and lobular aggregates of spindle cells with admixed histiocytes, eosinophils and lymphocytes. The spindled cells stained strongly positive for CD117 indicating mast cells. An elevated serum tryptase and bone marrow biopsy showing multifocal mast cell aggregates with D816V mutated KIT confirmed the diagnosis of SM; specifically, aggressive SM (ASM), due to his liver dysfunction and weight loss, likely secondary to malabsorption from gastrointestinal involvement. Midostaurin was selected as first line treatment. The patient developed significant toxicity on midostaurin, including neutropenic fever and persistent QTc prolongation, and treatment was discontinued. Second-line therapy with cladribine was declined due to risks outweighing potential benefits. The patient expired one month after treatment cessation. ASM is associated with various organopathies and therefore a wide range of clinical manifestations. Malabsorption and lymphadenopathy are both uncommon presentations of ASM1, but were the only presenting symptoms in this patient. Since there were no other indications of SM, no clear direction was provided for workup which increased the time to diagnosis. The delay in treatment initiation in this case demonstrates the implications of the broad clinical spectrum of SM and the potential for rapid progression despite a limited clinical presentation.

The Recurrent Flush: A Case and Review of Systemic Mastocytosis

Systemic Mastocytosis (SM) is a hematologic neoplasm characterized by an abnormal proliferation of mast cells, which have the potential to infiltrate one or more visceral organs. Patients can present with a wide constellation of symptoms making it a challenging diagnosis for clinicians. Non-specific symptoms such as fatigue, headache, and weight loss may predominate; however, some patients may present with acute onset of urticaria, flushing, and diarrhea. Due to its rarity, clinicians often face a challenge in evaluating, diagnosing and effectively treating systemic mastocytosis. Identification during the indolent phase is important as SM can progress to aggressive leukemias or myeloproliferative disorders. In this article, we present a case of SM, and discuss current practices in diagnosis, evaluation and management. We conclude with future directions for treatments and diagnosis

165 A Rare Case of Systemic Mastocytosis With Associated Clonal Hematological Non-Mast Cell Lineage Disease

165 A Rare Case of Systemic Mastocytosis With Associated Clonal Hematological Non-Mast Cell Lineage Disease

Refractory Hypotension Related to Systemic Mastocytosis Diagnosed After Cytoreductive Therapy for Acute Myeloid Leukemia

Systemic Mastocytosis (SM) can be associated with Acute Myeloid Leukemia (AML) and mast cells can be masked on bone marrow biopsy by the high burden of blast cells. Most of the SM-AML patients have associated translocation t(8;21) and mutation of D816V KIT gene which were not present in the reported case. None of the SM-AML cases described in the literature had systemic symptoms secondary to SM. This is the first reported case of life-threatening symptomatic SM in a patient with SM-AML. Checking

A case of systemic mastocytosis diagnosed on colonic biopsy

A case of systemic mastocytosis diagnosed on colonic biopsy

The case of systemic mastocytosis in the practice of the allergist-immunologist

Mastocytosis is a disease caused by excessive proliferation of mast cells, and it can lead to anaphylactoid reactions. Different mechanisms are involving in the development of anaphylactoid and anaphylactic reactions, however, these reactions have a similar clinical picture. Therefore, patients with mastocytosis can get into the field of view of an allergist-immunologist with suspects insect, food, drug allergy or anaphylaxis of unknown origin. It’s important not only to suggest the correct diagnosis, but also to give the patient the recommendation to reduce the risk of life-threatening reactions. In this article the case of systemic mastocytosis without skin manifestations, which has been regarded for a long time by physicians as drug hypersensitivity is considered.

Systemic Mastocytosis as an Unconventional Cause of Variceal Bleeding: Think Outside the Box

Systemic mastocytosis is a rare infiltrative disease caused by excessive mast cell proliferation and accumulation in various organs including skin, bone marrow, digestive system, liver and spleen. Common gastrointestinal symptoms include abdominal pain, diarrhea, nausea and vomiting. Gastrointestinal bleeding is seldom reported in mastocytosis and is predominantly caused by peptic ulcer disease secondary to excessive histamine secretion by mast cells resulting in hyperacidemia. Though exceptionally rare, non cirrhotic portal hypertension is peculiar in mastocytosis and is caused by perisinusoidal mast cell infiltration and fibrosis. Those patients typically present with variceal bleeding in the setting of preserved liver function. Herein we report a rare case of systemic mastocytosis that was disclosed after a massive variceal bleeding. 59 year old male with atrial fibrillation on coumadin, congestive heart failure and smoldering multiple myeloma presents with hematemesis and melena of 1 day duration. At presentation, he was hemodynamically unstable with severe blood loss (Hb:5.2g/dl) and supratherapeutic INR of >15. His liver profile was unremarkable except for albumin of 2.3. After resuscitation and reversal of anticoagulation, EGD reveals large gastroesophageal varices (Fig 1) with red whale signs. Band ligation was performed and control of bleeding achieved. He denied any history of liver diseases, hepatitis or alcohol abuse. Abdominal sonogram revealed normal liver parenchyma and patent hepatic and portal veins without any evidence of cirrhosis. Serologic tests for hepatitis A, B, C, HIV, markers of autoimmune hepatitis (AMA, ASMA, LKM antibodies), ceruloplasmin, iron indices and tumor markers were all unrevealing. Liver biopsy revealed severe perisinusoidal fibrosis with focal nodule formation (Fig 2). CD117 (c-kit) immunostain disclosed abundant mast cells in portal tracts (Fig 3). Serum tryptase level was elevated: 104 ng/ml (reference: 2 to 10) and bone marrow biopsy revealed hypercellular marrow infiltrated predominantly by mast cells, establishing the diagnosis of systemic mastocytosis.Figure 1Figure 2Figure 3This unique report highlights an out of the ordinary reason of variceal bleeding due to non cirrhotic portal hypertension in a patient with systemic mastocytosis. In this rare myeloproliferative disease, mast cell derived factors (tryptase, TNF α, PDGF and chymase) induce excessive collagen formation and fibrosis deposition in the hepatic sinusoids which lead to compression of portal veins and increased portal pressures. Typically liver function is preserved, which serves as an important clue for the diagnosis. Bone marrow biopsy is essential for diagnosis. Heightened awareness of this unique and rare presentation of mastocytosis is advised, to improve early recognition and avoid unnecessary investigation.

Œdème vulvaire révélant une mastocytose systémique

Systemic mastocytosis is characterised by abnormal proliferation of mast cells in various organs. We report an original case of systemic mastocytosis revealed by vulvar oedema. A 24-year-old patient was examined in the dermatology department for vulvar oedema appearing during sexual intercourse. She presented vasomotor dysfunction of the lower limbs, urticaria on the trunk on exertion, diarrhoea and bone pains. Laboratory tests showed serum tryptase of 29.7μg and plasma histamine at twice the normal value. Myelogram results showed infiltration by dysmorphic mast cells. Screening for c-kit D816V mutation was positive. Duodenal biopsies revealed mast-cell clusters with aggregation involving over 15 mast cells. CD2 staining was inconclusive and CD25 staining could not be done. Trabecular osteopenia was found, and we thus made a diagnosis of indolent systemic mastocytosis (ISM variant Ia) as per the WHO 2008 criteria. Symptomatic treatment was initiated (antiH1, H2, antileukotrienes) and clinical and laboratory follow-up was instituted. The cutaneous signs leading to diagnosis in this patient of systemic mastocytosis involving several organs were seemingly minimal signs associated with mastocyte degranulation. This is the third recorded case of mastocytosis revealed by vulvar oedema and the first case revealing systemic involvement. The two previously reported cases of vulvar oedema revealed cutaneous mastocytosis alone. Mastocytosis, whether systemic or cutaneous, must be included among the differential diagnoses considered in the presence of vulvar oedema.

Systemic Mastocytosis in a 2 Month Old Infant - A Case Report

Mastocytosis consists of a heterogeneous group of disorders characterized by a pathological accumulation of mast cells in the tissues including the skin, bone marrow, liver, spleen and the lymph nodes. In children, this rare disease usually presents with dermatological manifestations in the form of urticaria pigmentosa and its systemic form is rarely seen in children. We, hereby, present a case of systemic mastocytosis in a 2 month old infant.

Systemic Mastocytosis Involving the Gastrointestinal Tract: Case Report and Review

Mastocytosis is rare, and is actually a heterogeneous group of diseases that may only involve the skin (urticaria pigmentosa) or that may have a systemic presentation with multiorgan involvement. The gastrointestinal (GI) tract can be affected and symptoms related to GI involvement are often nonspecific. The diagnosis of systemic mastocytosis with primarily GI presentation can be challenging and requires familiarity with this entity and a high index of suspicion. We report a case of systemic mastocytosis primarily diagnosed by the recognition of small intestinal and colonic involvement and review the diagnostic criteria, histopathology, and recent developments regarding this entity.

A Case of Systemic Mastocytosis Associated with Acute Myeloid Leukemia Terminating as Aleukemic Mast Cell Leukemia after Allogeneic Hematopoietic Stem Cell Transplantation

In up to 40% of systemic mastocytosis (SM) cases, an associated clonal hematological non-mast cell lineage disease such as AML is diagnosed before, simultaneously with, or after the diagnosis of SM. A 40-yr-old man was diagnosed with AML with t(8;21)(q22;q22). Mast cells were not noted at diagnosis, but appeared as immature forms at relapse. After allogeneic hematopoietic stem cell transplantation (HSCT), leukemic myeloblasts were not observed; however, neoplastic metachromatic blasts strikingly proliferated during the state of bone marrow aplasia, and finally, aleukemic mast cell leukemia developed. As the disease progressed, we observed serial morphologic changes from immature mast cells with myeloblasts to only metachromatic blasts and atypical mast cells as mast cell leukemia; FISH analysis showed that the neoplastic mast cells originated from the same clone as the leukemic myeloblasts of AML.

Coexistent systemic mastocytosis and essential thrombocythemia complicated with monoclonal gammopathy and hypocomplementaemia

Abstract Hematological neoplasms associated with systemic mast cell disease are most frequently of myeloid origin. There are a few reports, however, of systemic mastocytosis (SM) cases associated with lymphoid or plasma cell neoplasms as well. In this report, the authors present a case of SM (with D816V mutation in the c-KIT gene) associated with JAK2 V617F mutation negative essential thrombocythemia. The leading symptom of the 78-year-old female was recurring hydrothorax that responded only to interferon alpha therapy. During the first year of therapy, the patient developed insulin-dependent diabetes and hypothyroidism. The hematological workup also revealed IgG kappa monoclonal gammopathy that was non-progressive in the following next three years. Low levels of complements without known clinical significance accompanied the entire picture.