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Pathogenesis and Management of Mastocytosis
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Pathogenesis and Management of Mastocytosis

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Immunology".

Deadline for manuscript submissions: closed (20 April 2024) | Viewed by 3850

Special Issue Editor

Prof. Dr. Zhixiong Li

E-Mail Website
Guest Editor
Department of Hematology, Hemostasis, Oncology and Stem Cell Transplantation, Hannover Medical School, 30625 Hannover, Germany
Interests: leukemogenesis of tyrosine kinases; pathogenesis and management of hematopoietic malignancies; mastocytosis; targeted therapy; gene therapy; stem cell biology

Special Issue Information

Dear Colleagues,

For this Special Issue of the International Journal of Molecular Sciences, I would like to invite you to contribute either an original research article or a review article on any aspect of the subject of “Pathogenesis and Management of Mastocytosis”.

Mastocytosis is a type of myeloid neoplasm that is characterized by the clonal, neoplastic proliferation of morphologically and immunophenotypically abnormal mast cells in one or more organ systems. Systemic mastocytosis (SM) is a more aggressive variant of mastocytosis with extracutaneous involvement that may be associated with multi-organ dysfunction or failure and shortened survival. The molecular mechanisms that underlie the development of mastocytosis are not well understood. The KIT D816V mutation can be found in over 80% of patients with SM. However, the KIT D816V mutation is a weak oncogene and appears to be a late event in the pathogenesis of mastocytosis. The management of SM is highly individualized and has largely been palliative for patients, without a targeted form of therapy, in the past few decades. Targeted therapy with midostaurin (a multiple kinase inhibitor) has demonstrated efficacy in patients with advanced SM. However, the overall survival of patients remains still unsatisfactory. Complete remission can only be observed in few, if any, patients. Gaining a better understanding of the mechanisms underlying the development of SM may yield improved molecular therapies for its treatment. Articles that provide mechanistic insights and new potential treatment strategies, both in vitro and in vivo, are particularly welcome for this Special Issue.

Prof. Dr. Zhixiong Li
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • mastocytosis
  • pathogenesis
  • pathophysiology
  • pathology
  • mutations
  • targeted therapy

Published Papers (2 papers)

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Review

18 pages, 1455 KiB  
Review
Diffuse Cutaneous Mastocytosis: A Current Understanding of a Rare Disease
by Agnieszka Rydz, Magdalena Lange, Hanna Ługowska-Umer, Monika Sikorska, Roman J. Nowicki, Cristina Morales-Cabeza and Iván Alvarez-Twose
Int. J. Mol. Sci. 2024, 25(3), 1401; https://doi.org/10.3390/ijms25031401 - 23 Jan 2024
Viewed by 1934
Abstract
Mastocytosis is a heterogeneous disease characterized by the expansion and accumulation of neoplastic mast cells in various tissues. Diffuse cutaneous mastocytosis (DCM) is a rare and most severe form of cutaneous mastocytosis, which typically occurs in childhood. There have been reports of a [...] Read more.
Mastocytosis is a heterogeneous disease characterized by the expansion and accumulation of neoplastic mast cells in various tissues. Diffuse cutaneous mastocytosis (DCM) is a rare and most severe form of cutaneous mastocytosis, which typically occurs in childhood. There have been reports of a familial DCM with specific gene mutations, indicating both sporadic and hereditary factors involved in its pathogenesis. DCM is associated with severe MC mediator-related symptoms and an increased risk of anaphylaxis. The diagnosis is based on the appearance of skin lesions, which typically show generalized thickening, erythroderma, blistering dermographism, and a positive Darier’s sign. Recognition, particularly in infants, is challenging due to DCMs resemblance to other bullous skin disorders. Therefore, in unclear cases, a skin biopsy is crucial. Treatment focuses on symptom management, mainly including antihistamines and mast cell stabilizers. In extremely severe cases, systemic steroids, tyrosine kinase inhibitors, phototherapy, or omalizumab may be considered. Patients should be equipped with an adrenaline autoinjector. Herein, we conducted a comprehensive review of literature data on DCM since 1962, which could help to better understand both the management and prognosis of DCM, which depends on the severity of skin lesions, intensity of mediator-related symptoms, presence of anaphylaxis, and treatment response. Full article
(This article belongs to the Special Issue Pathogenesis and Management of Mastocytosis)
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14 pages, 1169 KiB  
Review
Antibody-Based and Cell Therapies for Advanced Mastocytosis: Established and Novel Concepts
by Peter Valent, Cem Akin, Michel Arock, Karoline V. Gleixner, Hildegard Greinix, Olivier Hermine, Hans-Peter Horny, Daniel Ivanov, Alberto Orfao, Werner Rabitsch, Andreas Reiter, Axel Schulenburg, Karl Sotlar, Wolfgang R. Sperr and Celalettin Ustun
Int. J. Mol. Sci. 2023, 24(20), 15125; https://doi.org/10.3390/ijms242015125 - 12 Oct 2023
Cited by 1 | Viewed by 1534
Abstract
Advanced systemic mastocytosis (SM) is a heterogeneous group of myeloid neoplasms characterized by an uncontrolled expansion of mast cells (MC) in one or more internal organs, SM-induced tissue damage, and poor prognosis. Advanced SM can be categorized into aggressive SM (ASM), MC leukemia [...] Read more.
Advanced systemic mastocytosis (SM) is a heterogeneous group of myeloid neoplasms characterized by an uncontrolled expansion of mast cells (MC) in one or more internal organs, SM-induced tissue damage, and poor prognosis. Advanced SM can be categorized into aggressive SM (ASM), MC leukemia (MCL), and SM with an associated hematologic neoplasm (SM–AHN). In a vast majority of all patients, neoplastic cells display a KIT mutation, mostly D816V and rarely other KIT variants. Additional mutations in other target genes, such as SRSF2, ASXL1, or RUNX1, may also be identified, especially when an AHN is present. During the past 10 years, improved treatment approaches have led to a better quality of life and survival in patients with advanced SM. However, despite the availability of novel potent inhibitors of KIT D816V, not all patients enter remission and others relapse, often with a multi-mutated and sometimes KIT D816V-negative disease exhibiting multi-drug resistance. For these patients, (poly)chemotherapy, antibody-based therapies, and allogeneic hematopoietic stem cell transplantation may be viable treatment alternatives. In this article, we discuss treatment options for patients with drug-resistant advanced SM, including novel KIT-targeting drugs, antibody-based drugs, and stem cell-eradicating therapies. Full article
(This article belongs to the Special Issue Pathogenesis and Management of Mastocytosis)
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