4.7 Review

New Insights into the Pathogenesis of Systemic Mastocytosis

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Article Hematology

Hereditary α tryptasemia is a valid genetic biomarker for severe mediator-related symptoms in mastocytosis

Georg Greiner et al.

Summary: The study showed that in patients with mastocytosis, those with HαT had higher levels of tryptase and were more likely to experience hymenoptera venom hypersensitivity reactions and severe cardiovascular mediator-related symptoms/anaphylaxis. This suggests that HαT could be a novel emerging robust biomarker in mastocytosis.
Article Hematology

Graft-versus-mastocytosis effect after donor lymphocyte infusion: Proof of principle

Hans Hagglund et al.

Summary: This report describes a 53-year-old female patient with systemic mastocytosis and associated hematological neoplasm, who achieved sustained complete remission of SM-AHN with only donor lymphocyte infusions after undergoing allogeneic stem cell transplantation. The potent graft-versus-mastocytosis effect observed in this patient resembles the favorable effect seen in relapsing chronic myeloid leukemia patients after transplantation, and is the first case showing the proof of principle of this effect.

EUROPEAN JOURNAL OF HAEMATOLOGY (2021)

Review Biotechnology & Applied Microbiology

Practical management of adverse events in patients with advanced systemic mastocytosis receiving midostaurin

Jason Gotlib et al.

Summary: This review discusses the management of common adverse events in patients with advSM who participated in phase 2 clinical studies that led to the approval of midostaurin. In the advSM population undergoing treatment with midostaurin, treatment-related AEs are often difficult to distinguish from disease-related symptoms, which can lead to premature discontinuation and improper dose reduction of midostaurin therapy in patients who might have benefitted from continued therapy.

EXPERT OPINION ON BIOLOGICAL THERAPY (2021)

Article Hematology

Nintedanib targets KIT D816V neoplastic cells derived from induced pluripotent stem cells of systemic mastocytosis

Marcelo A. S. Toledo et al.

Summary: The KIT D816V mutation is a key therapeutic target for systemic mastocytosis, and nintedanib has been identified as a potential inhibitor for KIT D816V in patient-specific pluripotent stem cells.
Article Hematology

Proposed global prognostic score for systemic mastocytosis: a retrospective prognostic modelling study

Javier Munoz-Gonzalez et al.

Summary: A risk stratification model for systemic mastocytosis was designed and validated, showing clear discrimination between low-risk and high-risk patients for progression-free survival (PFS) and overall survival (OS) outcomes. The model was based on unique combinations of independent prognostic factors and showed high accuracy in predicting PFS and OS in both non-advanced and advanced systemic mastocytosis.

LANCET HAEMATOLOGY (2021)

Article Hematology

Systemic mastocytosis in adults: 2021 Update on diagnosis, risk stratification and management

Animesh Pardanani

Summary: Systemic mastocytosis (SM) is a disease caused by the clonal proliferation of abnormal mast cells in extra-cutaneous organs, diagnosed primarily based on the presence of abnormal mast cells in the bone marrow. Risk stratification is important for treatment planning, with options including small-molecule inhibitors targeting mutant-KIT for advanced cases. Treatment goals involve symptom control and prevention of complications such as anaphylaxis in indolent cases, while cytoreductive therapy may be necessary for those with advanced disease.

AMERICAN JOURNAL OF HEMATOLOGY (2021)

Letter Allergy

COVID-19 infection in patients with mast cell disorders including mastocytosis does not impact mast cell activation symptoms

Matthew P. Giannetti et al.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE (2021)

Article Medicine, Research & Experimental

Cytogenetic and molecular aberrations and worse outcome for male patients in systemic mastocytosis

Hanneke C. Kluin-Nelemans et al.

Summary: In systemic mastocytosis, male patients present with more advanced cases, inferior survival rates, and a higher frequency of prognostically relevant cytogenetic and molecular genetic abnormalities.

THERANOSTICS (2021)

Review Hematology

The clinical and pathological panoply of systemic mastocytosis

Deepti H. Radia et al.

BRITISH JOURNAL OF HAEMATOLOGY (2020)

Review Cell Biology

mTOR at the nexus of nutrition, growth, ageing and disease

Grace Y. Liu et al.

NATURE REVIEWS MOLECULAR CELL BIOLOGY (2020)

Article Allergy

Midostaurin improves quality of life and mediator-related symptoms in advanced systemic mastocytosis

Karin Hartmann et al.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2020)

Review Oncology

CAR T Cells for Acute Myeloid Leukemia: State of the Art and Future Directions

Sherly Mardiana et al.

FRONTIERS IN ONCOLOGY (2020)

Article Oncology

An aggressive systemic mastocytosis preceded by ovarian dysgerminoma

Makiko Tsutsumi et al.

BMC CANCER (2020)

Article Oncology

MARS: Mutation-Adjusted Risk Score for Advanced Systemic Mastocytosis

Mohamad Jawhar et al.

JOURNAL OF CLINICAL ONCOLOGY (2019)

Review Oncology

CAR T cell therapy: A new era for cancer treatment

Rimjhim Mohanty et al.

ONCOLOGY REPORTS (2019)

Review Oncology

NTRK fusion-positive cancers and TRK inhibitor therapy

Emiliano Cocco et al.

NATURE REVIEWS CLINICAL ONCOLOGY (2018)

Review Medicine, Research & Experimental

Neurotrophin signalling: novel insights into mechanisms and pathophysiology

Mariela Mitre et al.

CLINICAL SCIENCE (2017)

Review Biochemistry & Molecular Biology

mTOR Signaling in Growth, Metabolism, and Disease

Robert A. Saxton et al.

Article Hematology

Systemic mastocytosis in adults: 2017 update on diagnosis, risk stratification and management

Animesh Pardanani

AMERICAN JOURNAL OF HEMATOLOGY (2016)

Article Medicine, General & Internal

Efficacy and Safety of Midostaurin in Advanced Systemic Mastocytosis

Jason Gotlib et al.

NEW ENGLAND JOURNAL OF MEDICINE (2016)

Article Hematology

Systemic mastocytosis in adults: 2015 update on diagnosis, risk stratification, and management

Animesh Pardanani

AMERICAN JOURNAL OF HEMATOLOGY (2015)

Article Oncology

Nilotinib in patients with systemic mastocytosis: analysis of the phase 2, open-label, single-arm nilotinib registration study

Andreas Hochhaus et al.

JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY (2015)

Review Medicine, General & Internal

Mast Cells, Mastocytosis, and Related Disorders

Theoharis C. Theoharides et al.

NEW ENGLAND JOURNAL OF MEDICINE (2015)

Article Allergy

KIT D816V mutation burden does not correlate to clinical manifestations of indolent systemic mastocytosis

Sigurd Broesby-Olsen et al.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2013)

Article Medicine, Research & Experimental

Normal hematopoiesis and neurofibromin-deficient myeloproliferative disease require Erk

Karl Staser et al.

JOURNAL OF CLINICAL INVESTIGATION (2013)

Article Medicine, General & Internal

State of the art paper Mastocytosis in children and adults: clinical disease heterogeneity

Magdalena Lange et al.

Archives of Medical Science (2012)

Article Medicine, Research & Experimental

mTORC1 is essential for leukemia propagation but not stem cell self-renewal

Takayuki Hoshii et al.

JOURNAL OF CLINICAL INVESTIGATION (2012)

Article Immunology

Vital roles of mTOR complex 2 in Notch-driven thymocyte differentiation and leukemia

Keunwook Lee et al.

JOURNAL OF EXPERIMENTAL MEDICINE (2012)

Article Biochemistry & Molecular Biology

Human Tryptase Cleaves Pro-Nerve Growth Factor (Pro-NGF) HINTS OF LOCAL, MAST CELL-DEPENDENT REGULATION OF NGF/PRO-NGF ACTION

Katrin Spinnler et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2011)

Article Immunology

Activation and function of the mTORC1 pathway in mast cells

Mi-Sun Kim et al.

JOURNAL OF IMMUNOLOGY (2008)

Article Gastroenterology & Hepatology

Neurotrophin-3, but not nerve growth factor, promotes survival of human intestinal mast cells

A. Lorentz et al.

NEUROGASTROENTEROLOGY AND MOTILITY (2007)

Article Biochemistry & Molecular Biology

Neoplasia driven by mutant c-KIT is mediated by intracellular, not plasma membrane, receptor signaling

Zhifu Xiang et al.

MOLECULAR AND CELLULAR BIOLOGY (2007)

Article Hematology

Rapamycin inhibits growth and survival of D816V-mutated c-kit mast cells

Marion Gabillot-Carre et al.

Article Multidisciplinary Sciences

Pten dependence distinguishes haematopoietic stem cells from leukaemia-initiating cells

Omer H. Yilmaz et al.

NATURE (2006)

Review Immunology

Development migration, and survival of mast cells

Yoshimichi Okayama et al.

IMMUNOLOGIC RESEARCH (2006)

Article Immunology

Mastocytosis in mice expressing human Kit receptor with the activating Asp816Val mutation

JP Zappulla et al.

JOURNAL OF EXPERIMENTAL MEDICINE (2005)

Article Multidisciplinary Sciences

Identification of mast cell progenitors in adult mice

CC Chen et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)

Article Multidisciplinary Sciences

Murine leukemia induced by retroviral gene marking

ZX Li et al.

SCIENCE (2002)