Systemic mastocytosis: A concise clinical and laboratory review

Mrinal M Patnaik, Michelle Rindos, Peter A. Kouides, Ayalew Tefferi, Animesh D Pardanani

Research output: Contribution to journalArticle

51 Citations (Scopus)

Abstract

Context. - Systemic mastocytosis is characterized by abnormal growth and accumulation of neoplastic mast cells in various organs. The clinical presentation is varied and may include skin rash, symptoms related to release of mast cell mediators, and/or organopathy from involvement of bone, liver, spleen, bowel, or bone marrow. Objective. - To concisely review pathogenesis, disease classification, clinical features, diagnosis, and treatment of mast cell disorders. Data Sources. - Pertinent literature emerging during the last 20 years in the field of mast cell disorders. Conclusions. - The cornerstone of diagnosis is careful bone marrow histologic examination with appropriate immunohistochemical studies. Ancillary tests such as mast cell immunophenotyping, cytogenetic/molecular studies, and serum tryptase levels assist in confirming the diagnosis. Patients with cutaneous disease or with low systemic mast cell burden are generally managed symptomatically. In the patients requiring mast cell cytoreductive therapy, treatment decisions are increasingly being guided by results of molecular studies. Most patients carry the kit D816V mutation and are predicted to be resistant to imatinib mesylate (Gleevec) therapy. In contrast, patients carrying the FIP1L1-PDGFRA mutation achieve complete responses with low-dose imatinib therapy. Other therapeutic options include use of interferon-α, chemotherapy (2-chlorodeoxyadenosine), or novel small molecule tyrosine kinase inhibitors currently in clinical trials.

Original languageEnglish (US)
Pages (from-to)784-791
Number of pages8
JournalArchives of Pathology and Laboratory Medicine
Volume131
Issue number5
StatePublished - May 2007

Fingerprint

Systemic Mastocytosis
Mast Cells
Cladribine
Bone Marrow Examination
Therapeutics
Tryptases
Immunophenotyping
Mutation
Information Storage and Retrieval
Cell- and Tissue-Based Therapy
Exanthema
Skin Diseases
Cytogenetics
Protein-Tyrosine Kinases
Interferons
Spleen
Bone Marrow
Clinical Trials
Bone and Bones
Drug Therapy

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Medical Laboratory Technology

Cite this

Systemic mastocytosis : A concise clinical and laboratory review. / Patnaik, Mrinal M; Rindos, Michelle; Kouides, Peter A.; Tefferi, Ayalew; Pardanani, Animesh D.

In: Archives of Pathology and Laboratory Medicine, Vol. 131, No. 5, 05.2007, p. 784-791.

Research output: Contribution to journalArticle

@article{11a4a2d72f54488e99b09cee5fe22908,
title = "Systemic mastocytosis: A concise clinical and laboratory review",
abstract = "Context. - Systemic mastocytosis is characterized by abnormal growth and accumulation of neoplastic mast cells in various organs. The clinical presentation is varied and may include skin rash, symptoms related to release of mast cell mediators, and/or organopathy from involvement of bone, liver, spleen, bowel, or bone marrow. Objective. - To concisely review pathogenesis, disease classification, clinical features, diagnosis, and treatment of mast cell disorders. Data Sources. - Pertinent literature emerging during the last 20 years in the field of mast cell disorders. Conclusions. - The cornerstone of diagnosis is careful bone marrow histologic examination with appropriate immunohistochemical studies. Ancillary tests such as mast cell immunophenotyping, cytogenetic/molecular studies, and serum tryptase levels assist in confirming the diagnosis. Patients with cutaneous disease or with low systemic mast cell burden are generally managed symptomatically. In the patients requiring mast cell cytoreductive therapy, treatment decisions are increasingly being guided by results of molecular studies. Most patients carry the kit D816V mutation and are predicted to be resistant to imatinib mesylate (Gleevec) therapy. In contrast, patients carrying the FIP1L1-PDGFRA mutation achieve complete responses with low-dose imatinib therapy. Other therapeutic options include use of interferon-α, chemotherapy (2-chlorodeoxyadenosine), or novel small molecule tyrosine kinase inhibitors currently in clinical trials.",
author = "Patnaik, {Mrinal M} and Michelle Rindos and Kouides, {Peter A.} and Ayalew Tefferi and Pardanani, {Animesh D}",
year = "2007",
month = "5",
language = "English (US)",
volume = "131",
pages = "784--791",
journal = "Archives of Pathology and Laboratory Medicine",
issn = "0003-9985",
publisher = "College of American Pathologists",
number = "5",

}

TY - JOUR

T1 - Systemic mastocytosis

T2 - A concise clinical and laboratory review

AU - Patnaik, Mrinal M

AU - Rindos, Michelle

AU - Kouides, Peter A.

AU - Tefferi, Ayalew

AU - Pardanani, Animesh D

PY - 2007/5

Y1 - 2007/5

N2 - Context. - Systemic mastocytosis is characterized by abnormal growth and accumulation of neoplastic mast cells in various organs. The clinical presentation is varied and may include skin rash, symptoms related to release of mast cell mediators, and/or organopathy from involvement of bone, liver, spleen, bowel, or bone marrow. Objective. - To concisely review pathogenesis, disease classification, clinical features, diagnosis, and treatment of mast cell disorders. Data Sources. - Pertinent literature emerging during the last 20 years in the field of mast cell disorders. Conclusions. - The cornerstone of diagnosis is careful bone marrow histologic examination with appropriate immunohistochemical studies. Ancillary tests such as mast cell immunophenotyping, cytogenetic/molecular studies, and serum tryptase levels assist in confirming the diagnosis. Patients with cutaneous disease or with low systemic mast cell burden are generally managed symptomatically. In the patients requiring mast cell cytoreductive therapy, treatment decisions are increasingly being guided by results of molecular studies. Most patients carry the kit D816V mutation and are predicted to be resistant to imatinib mesylate (Gleevec) therapy. In contrast, patients carrying the FIP1L1-PDGFRA mutation achieve complete responses with low-dose imatinib therapy. Other therapeutic options include use of interferon-α, chemotherapy (2-chlorodeoxyadenosine), or novel small molecule tyrosine kinase inhibitors currently in clinical trials.

AB - Context. - Systemic mastocytosis is characterized by abnormal growth and accumulation of neoplastic mast cells in various organs. The clinical presentation is varied and may include skin rash, symptoms related to release of mast cell mediators, and/or organopathy from involvement of bone, liver, spleen, bowel, or bone marrow. Objective. - To concisely review pathogenesis, disease classification, clinical features, diagnosis, and treatment of mast cell disorders. Data Sources. - Pertinent literature emerging during the last 20 years in the field of mast cell disorders. Conclusions. - The cornerstone of diagnosis is careful bone marrow histologic examination with appropriate immunohistochemical studies. Ancillary tests such as mast cell immunophenotyping, cytogenetic/molecular studies, and serum tryptase levels assist in confirming the diagnosis. Patients with cutaneous disease or with low systemic mast cell burden are generally managed symptomatically. In the patients requiring mast cell cytoreductive therapy, treatment decisions are increasingly being guided by results of molecular studies. Most patients carry the kit D816V mutation and are predicted to be resistant to imatinib mesylate (Gleevec) therapy. In contrast, patients carrying the FIP1L1-PDGFRA mutation achieve complete responses with low-dose imatinib therapy. Other therapeutic options include use of interferon-α, chemotherapy (2-chlorodeoxyadenosine), or novel small molecule tyrosine kinase inhibitors currently in clinical trials.

UR - http://www.scopus.com/inward/record.url?scp=34248232533&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=34248232533&partnerID=8YFLogxK

M3 - Article

C2 - 17488167

AN - SCOPUS:34248232533

VL - 131

SP - 784

EP - 791

JO - Archives of Pathology and Laboratory Medicine

JF - Archives of Pathology and Laboratory Medicine

SN - 0003-9985

IS - 5

ER -