Article
Biochemistry & Molecular Biology
Francesca Crupi, Benedetta Sordi, Fiorenza Vanderwert, Francesca Gesullo, Andrea Amorosi, Francesco Mannelli, Raffaella Santi
Summary: The diagnosis of systemic mastocytosis relies on histological evidence, particularly from bone marrow biopsy. Immunohistochemistry is useful in the diagnosis. Recent evidence from molecular genetics has improved diagnostic capability and provided a foundation for prognostic and therapeutic evaluation. An integrated diagnostic approach is important for SM classification and treatment effectiveness.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Oncology
Magda Zanelli, Marco Pizzi, Francesca Sanguedolce, Maurizio Zizzo, Andrea Palicelli, Alessandra Soriano, Alessandra Bisagni, Giovanni Martino, Cecilia Caprera, Marina Moretti, Francesco Masia, Loredana De Marco, Elisabetta Froio, Moira Foroni, Giuditta Bernardelli, Maria Isabel Alvarez de Celis, Alessandro Giunta, Francesco Merli, Stefano Ascani
Summary: Mastocytosis represents a heterogeneous group of neoplastic mast cell disorders, with gastrointestinal symptoms being a major cause of morbidity in patients. Diagnosing the disease can be challenging and requires a close multidisciplinary team approach for diagnosis and treatment.
Article
Allergy
Leander P. De Puysseleyr, Didier G. Ebo, Jessy Elst, Margaretha A. Faber, Marie-Line Van der Poorten, Athina L. Van Gasse, Chris H. Bridts, Christel Mertens, Michel Van Houdt, Margo M. Hagendorens, Anke Verlinden, Katrien Vermeulen, Marie-Berthe Maes, Zwi N. Berneman, Vito Sabato
Summary: In patients with severe anaphylaxis but no mastocytosis in the skin and baseline serum tryptase less than 30 ng/mL, detection of the KIT D816V mutation in peripheral blood may not be very helpful in diagnosing primary mast cell disorders.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE
(2021)
Article
Immunology
Geethani Bandara, Guido H. Falduto, Andrea Luker, Yun Bai, Annika Pfeiffer, Justin Lack, Dean D. Metcalfe, Ana Olivera
Summary: The HMC-1.2 cell line expresses two oncogenic mutations, while the HMC-1.3 cell line expresses only one oncogenic mutation. The HMC-1.3 cells are more sensitive to interventional drugs and have increased tumorigenicity, suggesting they may serve as an improved preclinical model for mastocytosis.
FRONTIERS IN IMMUNOLOGY
(2023)
Review
Biochemistry & Molecular Biology
Boguslaw Nedoszytko, Michel Arock, Jonathan J. Lyons, Guillaume Bachelot, Lawrence B. Schwartz, Andreas Reiter, Mohamad Jawhar, Juliana Schwaab, Magdalena Lange, Georg Greiner, Gregor Hoermann, Marek Niedoszytko, Dean D. Metcalfe, Peter Valent
Summary: Mastocytosis is a rare disease where clonal mast cells expand in the skin and internal organs, leading to systemic involvement in some cases. Various subtypes exist, with the most prevalent pathogenic variant being KIT p.D816V. Somatic mutations in genes like TET2 and JAK2 have also been identified, impacting clinical and cellular phenotypes.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Allergy
Matthew P. Giannetti, Cem Akin, Raied Hufdhi, Matthew J. Hamilton, Emily Weller, Bjorn van Anrooij, Jonathan J. Lyons, Jason L. Hornick, Geraldine Pinkus, Mariana Castells, Olga Pozdnyakova
Summary: Patients with MCAS-T exhibit unique morphologic and histologic features in bone marrow, including larger, hypogranular MCs located in paratrabecular and perivascular areas, associated with bone marrow eosinophilia. All patients available for tryptase genotyping were confirmed to have HaT, indicating that elevated tryptase levels in MCAS-T patients are caused by this genetic trait.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2021)
Article
Pathology
Rodrigo de Andrade Natal, Humberto Carvalho Carneiro, Flavia Fonseca de Carvalho Barra, Katia Borgia Barbosa Pagnano, Fernando Augusto Soares, Jose Vassallo
Summary: Systemic mastocytosis is a rare myeloid neoplasm characterized by abnormal growth and accumulation of mast cells. Its clinical presentation and course vary greatly. Diagnosis can be made through morphology and immunohistochemical markers.
Article
Allergy
Esmee K. van der Ploeg, Maud A. W. Hermans, Vincent H. J. van der Velden, Willem A. Dik, Paul L. A. van Daele, Ralph Stadhouders
Summary: ILC2 levels were significantly higher in patients with systemic mastocytosis carrying the D816V mutation compared with non-carriers or healthy controls. Skin involvement and itch in patients were associated with higher levels of ILC2s, independent of atopy or serum tryptase levels. Majority of ILC2s did not carry the D816V mutation, suggesting a role for ILC2s in mastocytosis pathogenesis through crosstalk with mast cells.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2021)
Article
Multidisciplinary Sciences
Runfeng Miao, Harim Chun, Xing Feng, Ana Cordeiro Gomes, Jungmin Choi, Joao P. Pereira
Summary: This study reveals that a complex homeostatic balance between hematopoietic stem cells (HSCs) and hematopoietic progenitor cells is maintained through competition for a limited amount of cell signaling molecule. When early hematopoietic progenitors fail to interact with specific cells, HSC numbers increase.
NATURE COMMUNICATIONS
(2022)
Article
Medicine, General & Internal
Aneta Szudy-Szczyrek, Oliwia Bachanek-Mitura, Tomasz Gromek, Karolina Chromik, Andrzej Mital, Michal Szczyrek, Witold Krupski, Justyna Szumilo, Zuzanna Kandula, Grzegorz Helbig, Marek Hus
Summary: Midostaurin has shown to be beneficial for patients with aggressive systemic mastocytosis (ASM), with most patients experiencing clinical improvement and objective response during the treatment course. Some patients also demonstrated a decrease in serum tryptase level and bone marrow infiltration cells during the treatment process.
JOURNAL OF CLINICAL MEDICINE
(2021)
Review
Biochemistry & Molecular Biology
Domenico Ribatti, Antonio d'Amati
Summary: Hematopoietic stem cells (HSCs) have the ability to self-renew and differentiate into all mature hematopoietic cell types. They are mainly found in the bone marrow and are regulated by a hierarchy of different types of cells. Mast cells, a type of innate immune cell, have a complex developmental process starting from the yolk sac and later originating from HSCs. This review article summarizes the knowledge on mast cell sources and the mechanisms involved in their development.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Editorial Material
Medicine, General & Internal
Magda Zanelli, Stefano Ricci, Maurizio Zizzo, Francesca Sanguedolce, Federica De Giorgi, Andrea Palicelli, Giovanni Martino, Stefano Ascani
Summary: A 79-year-old woman presented with peripheral eosinophilia, with a history of colonic polyposis and subsequent right hemicolectomy. Laboratory tests revealed mild macrocitic anaemia, elevated beta 2 microglobulin and serum tryptase levels, and the presence of IgA/kappa monoclonal protein and Bence-Jones protein. Bone marrow biopsy showed two neoplastic components - mast cells and plasma cells, with molecular analysis demonstrating mutations and chromosomal abnormalities. The rare coexistence of systemic mastocytosis and multiple myeloma led to treatment with midostaurin therapy.
Review
Pathology
Roos J. Leguit, Sa A. Wang, Tracy George, Alexandar Tzankov, Attilio Orazi
Summary: Mastocytosis is a neoplasm characterized by clonal proliferation of mast cells, which can accumulate in the skin and multiple organs, leading to various clinical presentations. According to the 2022 international consensus classification, mastocytosis can be divided into a benign form confined to the skin and a malignant form with systemic involvement.
Article
Allergy
Laura Polivka, Julien Rossignol, Antoine Neuraz, Djiba Conde, Julie Agopian, Cecile Meni, Nicolas Garcelon, Patrice Dubreuil, Leila Maouche-Chretien, Smail Hadj-Rabia, Olivier Hermine, Christine Bodemer
Summary: The regression of cutaneous mastocytosis in pediatric patients is associated with congenital mastocytosis and the KIT D816V mutation. The worsening of MCASs over time is correlated with the persistence of skin lesions, but in 19% of patients with MCASs at baseline and CM regression, MCASs become more intense. Additional long-term follow-up in this setting is justified.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE
(2021)
Article
Dermatology
Maud A. W. Hermans, Suzanne G. M. A. Pasmans, Nicolette J. T. Arends, Thierry P. P. van den Bosch, Paul L. A. van Daele, Martijn B. A. van Doorn, Elise J. Huisman, Antien L. Mooyaart, Jeffrey Damman
Summary: Skin histopathology can help differentiate mMPCM from other subtypes in pediatric mastocytosis.
CLINICAL AND EXPERIMENTAL DERMATOLOGY
(2022)