Aggressive systemic mastocytosis

A severe and rare form of systemic mastocytosis (SM) characterized by considerable infiltration of mast cells in different tissues.



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Narrow down the case reports



Total: 25 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(57.3%)		 15377487
 Aggressive systemic mastocytosis mimicking sclerosing cholangitis.
Marbello L, Anghilieri M, Nosari A, Minola E, Cairoli R, Ricci F, Morra E.
Haematologica. 2004;89(9):ECR35.
Cholestasis Ascites Anemia Fever
Abdominal Pain Adrenal Cortex Hormones Adult Amino Acid Substitution Antineoplastic Combined Chemotherapy Protocols Bone Marrow Budd-Chiari Syndrome Cholangitis, Sclerosing Clone Cells Diarrhea Differential Diagnosis Endoscopic Retrograde Cholangiopancreatography Fatal Outcome Females Flushing Histamine H1 Antagonists Homo sapiens Liver Lymphoma Mastocytosis, Systemic Missense Mutation Point Mutation Proto-Oncogene Protein c-kit
2
(48.9%)		 8876560
 The presence of membrane-bound stem cell factor on highly immature nonmetachromatic mast cells in the peripheral blood of a patient with aggressive systemic mastocytosis.
Castells MC, Friend DS, Bunnell CA, Hu X, Kraus M, Osteen RT, Austen KF.
J Allergy Clin Immunol. 1996;98(4):831-40.
Hepatosplenomegaly Anemia
CMA1 FCER1A KIT KITLG
Homo sapiens Male Mastocytosis Middle Aged Skin Spleen Stem Cell Factor
3
(38.0%)		 22462357
 [Systemic mastocytosis: case report with literature review].
Mitrovic M, Peruniic M, Sokic-Milutinovic A, Andrejevic S, Suvajdic N.
Srp Arh Celok Lek. 2012;140(1-2):100-3.
Hepatosplenomegaly Thrombocytopenia
IL2RA KIT
Homo sapiens Male Mastocytosis, Systemic Middle Aged
4
(32.9%)		 28369700
 In utero presentation of aggressive systemic mastocytosis in a neonate.
Huang A, Fiadorchanka N, Brar K, Balderacchi JL, Glick SA.
Br J Dermatol. 2017;177(5):1439-1441.
Hepatosplenomegaly Bacteremia
KIT
p|SUB|D|816|V;RS#:121913507
Ascites Cutaneous Mastocytosis Fatal Outcome Females Hepatomegaly Homo sapiens Infant, Newborn Male Mastocytosis, Systemic Pregnancy Splenomegaly Ultrasonography, Prenatal
5
(31.6%)		 27605890
 Systemic mastocytosis: A rare cause of non-cirrhotic portal hypertension.
Martins C, Teixeira C, Ribeiro S, Trabulo D, Cardoso C, Mangualde J, Freire R, Gamito E, Alves AL, Cremers I, Alves C, Neves A, Oliveira AP.
World J Gastroenterol. 2016;22(28):6559-64.
Cirrhosis Pancytopenia
Biopsy Gastric Antral Vascular Ectasia Hepatomegaly Homo sapiens Liver Male Mastocytosis, Systemic Portal Hypertension Splenomegaly X-Ray Computed Tomography
6
(31.4%)		 28095350
 Progressive multifocal leukoencephalopathy in a patient with systemic mastocytosis treated with cladribine.
Alstadhaug KB, Fykse Halstensen R, Odeh F.
J Clin Virol. 2017;88:17-20.
Dysarthria Lymphopenia Anemia
Homo sapiens Immunosuppressive Agents JC Virus Leukoencephalopathy, Progressive Multifocal Male Mastocytosis, Systemic
7
(31.3%)		 17873616
 Aggressive systemic mastocytosis presenting with hepatic cholestasis.
Kupfer SS, Hart J, Mohanty SR.
Eur J Gastroenterol Hepatol. 2007;19(10):901-5.
Cholestasis Hepatosplenomegaly
KIT
Acute Disease Biological Markers Differential Diagnosis Fatal Outcome Females Homo sapiens Intrahepatic Cholestasis Mastocytosis Middle Aged Myeloid Leukemia Proto-Oncogene Protein c-kit
8
(27.2%)		 30069418
(6057401)
 Aggressive Systemic Mastocytosis in Association with Pure Red Cell Aplasia.
Karam D, Swiatkowski S, Ravipati M, Agrawal B.
Case Rep Hematol. 2018;2018:6928571.
Reticulocytopenia Normocytic anemia
8
(27.2%)		 15806514
 The faces of mast cell disease: bone marrow infiltrates in 3 patients with systemic mastocytosis.
Martinez AE, Medina AM, Hyde JA, Krill-Jackson E, Blaustein A, Schwartz M, Cabello-Inchausti B.
Ann Diagn Pathol. 2005;9(2):81-5.
Thrombocytopenia Anemia
IL2RA KIT
Aged, 80 and over Bone Marrow Females Homo sapiens Immunohistochemistry Interleukin 2 Receptor Male Mastocytosis, Systemic Proto-Oncogene Protein c-kit Staining and Labeling
10
(26.7%)		 25009756
(4069804)
 An unusual case of aggressive systemic mastocytosis mimicking hepatic cirrhosis.
Zhang XY, Zhang WH.
Cancer Biol Med. 2014;11(2):134-8.
Cirrhosis Hepatomegaly
        

Phenotype(s) retrieved from Orphanet

    Total: 40

HPO ID Term Frequency
HP:0000975 Hyperhidrosis Very frequent (99-80%)
HP:0001744 Splenomegaly Very frequent (99-80%)
HP:0001880 Eosinophilia Very frequent (99-80%)
HP:0002017 Nausea and vomiting Very frequent (99-80%)
HP:0002653 Bone pain Very frequent (99-80%)
HP:0005561 Abnormality of bone marrow cell morphology Very frequent (99-80%)
HP:0012378 Fatigue Very frequent (99-80%)
HP:0100495 Mastocytosis Very frequent (99-80%)
HP:0000716 Depressivity Frequent (79-30%)
HP:0000739 Anxiety Frequent (79-30%)
HP:0000939 Osteoporosis Frequent (79-30%)
HP:0000989 Pruritus Frequent (79-30%)
HP:0001695 Cardiac arrest Frequent (79-30%)
HP:0001882 Leukopenia Frequent (79-30%)
HP:0001903 Anemia Frequent (79-30%)
HP:0002014 Diarrhea Frequent (79-30%)
HP:0002024 Malabsorption Frequent (79-30%)
HP:0002027 Abdominal pain Frequent (79-30%)
HP:0002028 Chronic diarrhea Frequent (79-30%)
HP:0002240 Hepatomegaly Frequent (79-30%)
HP:0002615 Hypotension Frequent (79-30%)
HP:0002829 Arthralgia Frequent (79-30%)
HP:0011675 Arrhythmia Frequent (79-30%)
HP:0100845 Anaphylactic shock Frequent (79-30%)
HP:0000217 Xerostomia Occasional (29-5%)
HP:0001394 Cirrhosis Occasional (29-5%)
HP:0001824 Weight loss Occasional (29-5%)
HP:0001876 Pancytopenia Occasional (29-5%)
HP:0002039 Anorexia Occasional (29-5%)
HP:0002094 Dyspnea Occasional (29-5%)
HP:0002099 Asthma Occasional (29-5%)
HP:0002113 Pulmonary infiltrates Occasional (29-5%)
HP:0002488 Acute leukemia Occasional (29-5%)
HP:0002665 Lymphoma Occasional (29-5%)
HP:0002716 Lymphadenopathy Occasional (29-5%)
HP:0002757 Recurrent fractures Occasional (29-5%)
HP:0005547 Myeloproliferative disorder Occasional (29-5%)
HP:0005558 Chronic leukemia Occasional (29-5%)
HP:0011001 Increased bone mineral density Occasional (29-5%)
HP:0100242 Sarcoma Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 15

HPO ID Term # of case reports
HP:0001394 Cirrhosis 2
HP:0001409 Portal hypertension 2
HP:0001880 Eosinophilia 2
HP:0001396 Cholestasis 1
HP:0001433 Hepatosplenomegaly 1
HP:0001541 Ascites 1
HP:0001873 Thrombocytopenia 1
HP:0001903 Anemia 1
HP:0001909 Leukemia 1
HP:0002240 Hepatomegaly 1
HP:0002243 Protein-losing enteropathy 1
HP:0002863 Myelodysplasia 1
HP:0011974 Myelofibrosis 1
HP:0025142 Constitutional symptom 1
HP:0030151 Cholangitis 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID