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European Journal of Dermatology : EJD Dec 2023
Topics: Humans; Syringoma; Sweat Gland Neoplasms; Mastocytosis, Cutaneous
PubMed: 38465569
DOI: 10.1684/ejd.2023.4624 -
Current Allergy and Asthma Reports Apr 2024To provide an overview on the current understanding of genetic variability in human tryptases and summarize the literature demonstrating the differential impact of... (Review)
Review
PURPOSE OF REVIEW
To provide an overview on the current understanding of genetic variability in human tryptases and summarize the literature demonstrating the differential impact of mature tryptases on mast cell-mediated reactions and associated clinical phenotypes.
RECENT FINDINGS
It is becoming increasingly recognized that tryptase gene composition, and in particular the common genetic trait hereditary alpha-tryptasemia (HαT), impacts clinical allergy. HαT has consistently been associated with clonal mast cell disorders (MCD) and has also been associated with more frequent anaphylaxis among these patients, and patients in whom no allergic trigger can be found, specifically idiopathic anaphylaxis. Additionally, more severe anaphylaxis among Hymenoptera venom allergy patients has been linked to HαT in both retrospective and prospective studies. An increased relative number of α-tryptase-encoding gene copies, even in the absence of HαT, has also been associated with systemic mastocytosis and has been shown to positively correlate with the severity of mast cell-mediated reactions to vibration and food. These findings may be due to increased generation of α/β-tryptase heterotetramers and differences in their enzymatic activity relative to β-tryptase homotetramers. HαT is a naturally occurring overexpression model of α-tryptase in humans. Increased relative α-tryptase expression modifies immediate hypersensitivity symptoms and is associated with more frequent and severe mast cell-mediated reactions, ostensibly due to increased α/β-tryptase heterotetramer production.
Topics: Humans; Mast Cells; Tryptases; Anaphylaxis; Retrospective Studies; Prospective Studies; Mastocytosis; Mast Cell Activation Syndrome
PubMed: 38460022
DOI: 10.1007/s11882-024-01136-y -
The Journal of Allergy and Clinical... Mar 2024
Topics: Humans; Mast Cell Activation Syndrome; Mast Cells; Mastocytosis
PubMed: 38458701
DOI: 10.1016/j.jaip.2024.01.013 -
Clinical Nuclear Medicine May 2024We report an 18 F-FDG PET/CT scan of a 47-year-old man diagnosed with diffuse mast cell sarcoma with lymph node, bone, liver, spleen, and lung involvement. This...
We report an 18 F-FDG PET/CT scan of a 47-year-old man diagnosed with diffuse mast cell sarcoma with lymph node, bone, liver, spleen, and lung involvement. This interesting image should remind colleagues to consider mast cell sarcoma as a rare differential diagnosis in patients with multiple, intensely hypermetabolic lesions in various organs and lymph nodes.
Topics: Male; Humans; Middle Aged; Positron Emission Tomography Computed Tomography; Fluorodeoxyglucose F18; Mast-Cell Sarcoma; Positron-Emission Tomography; Lymphoma; Neoplasms, Second Primary
PubMed: 38456450
DOI: 10.1097/RLU.0000000000005162 -
Leukemia Apr 2024We identified 71 patients with AdvSM (aggressive SM [ASM], SM with an associated hematologic neoplasm [SM-AHN, e.g., acute myeloid leukemia, SM-AML], mast cell leukemia...
We identified 71 patients with AdvSM (aggressive SM [ASM], SM with an associated hematologic neoplasm [SM-AHN, e.g., acute myeloid leukemia, SM-AML], mast cell leukemia [MCL]) in two national registries (DRST/GREM) who received an allogeneic hematopoietic cell transplantation (alloHCT) performed in Germany from 1999-2021. Median overall survival (OS) of ASM/SM-AHN (n = 30, 45%), SM-AML (n = 28, 39%) and MCL ± AHN (n = 13, 19%) was 9.0, 3.3 and 0.9 years (P = 0.007). Improved median OS was associated with response of SM (17/41, 41%; HR 0.4 [0.2-0.9], P = 0.035) and/or of AHN (26/43, 60%, HR 0.3 [0.1-0.7], P = 0.004) prior to alloHCT. Adverse predictors for OS included absence of KIT D816V (10/61, 16%, HR 2.9 [1.2-6.5], P < 0.001) and a complex karyotype (9/60, 15%, HR 4.2 [1.8-10.0], P = 0.016). HLA-match, conditioning type or transplantation at centers reporting above-average alloHCTs (≥7) had no impact on OS. Taking into account competing events at years 1, 3 and 5, relapse-related mortality and non-relapse mortality rate were 15%/23%, 20%/30% and 23%/35%, respectively. Irrespective of subtype, subsequent treatment response was achieved in 13/30 (43%) patients and was highest on midostaurin/avapritinib (7/9, 78%). We conclude that outcome of alloHCT in AdvSM is more affected by disease phenotype and treatment response prior to transplant than by transplant characteristics.
Topics: Humans; Mastocytosis, Systemic; Retrospective Studies; Leukemia, Mast-Cell; Hematopoietic Stem Cell Transplantation; Leukemia, Myeloid, Acute
PubMed: 38448757
DOI: 10.1038/s41375-024-02186-x -
Journal of Drugs in Dermatology : JDD Mar 2024Mastocytosis is a group of disorders characterized by the pathologic accumulation of mast cells in various tissues. One example of mastocytosis is urticaria pigmentosa,...
Mastocytosis is a group of disorders characterized by the pathologic accumulation of mast cells in various tissues. One example of mastocytosis is urticaria pigmentosa, which presents with mastocytomas that can cause hives and, when irritated, pruritus. To our knowledge, we are describing the first case of urticaria pigmentosa without pruritus. The patient had a positive Darier's sign, stated that they never felt itchy, and denied ever using a topical steroid or antihistamine. Although our patient declined additional testing, patients like this may benefit from a detailed evaluation of their sensory system through both quantitative sensory testing and genetic analysis. J Drugs Dermatol. 2024;23(3): doi:10.36849/JDD.7558e.
Topics: Humans; Urticaria Pigmentosa; Pruritus; Urticaria; Mast Cells; Emotions
PubMed: 38443117
DOI: 10.36849/jdd.7558 -
Acta Medica Portuguesa Mar 2024
Topics: Humans; COVID-19; COVID-19 Vaccines; Mastocytosis, Systemic
PubMed: 38430469
DOI: 10.20344/amp.20851 -
Journal of Veterinary Internal Medicine 2024The therapeutic role and prognostic relevance of lymphadenectomy in mast cell tumor (MCT) has historically been evaluated on regional rather than sentinel lymph nodes.
BACKGROUND
The therapeutic role and prognostic relevance of lymphadenectomy in mast cell tumor (MCT) has historically been evaluated on regional rather than sentinel lymph nodes.
HYPOTHESIS/OBJECTIVES
To update information about the association of histological nodal (HN) classes with clinical outcome in dogs with MCT after tumor excision and extirpation of normal-sized sentinel nodes (SLN) guided by radiopharmaceutical.
ANIMALS
Ninety-four dogs with histologically-confirmed treatment-naïve MCT (71 cutaneous, 22 subcutaneous and 1 conjunctival MCT) were included if without: distant metastases, lymphadenomegaly, concurrent mixed cutaneous, and subcutaneous MCT.
METHODS
This was a monoistitutional cohort study. Tumors characteristics were retrieved and SLNs were classified according to Weishaar's system. Incidence of MCT-related events (local, nodal, distant relapse), de novo MCT or other tumors and death (MCT-related and non-MCT-related), were recorded. Incidence curves were compared among the HN classes.
RESULTS
Twenty-seven dogs had HN0, 19 HN1, 37 HN2, and 11 HN3 SLN. Thirteen (2 HN0, 4 HN2, and 7 HN3) received adjuvant chemotherapies. Kiupel high grade, increasing number of SLN and lymphocentrums were associated with higher HN classes. Five dogs died for MCT-related causes: 1 low-grade (HN0) and 1 subcutaneous (HN3) had a local relapse, 2 high-grade had distant relapse (HN3-HN0) and 1 dog developed disease progression from a de novo subcutaneous MCT. No nodal relapse was registered. Fourteen dogs developed de novo MCTs.
CONCLUSION/DISCUSSION
Low grade/low-risk MCT with nonpalpable and normal sized SLN have a favorable outcome independently from the HN. Result should be considered strictly related to the successful SLN detection guided pre- and intraoperative by radiopharmaceutical markers.
Topics: Animals; Dogs; Dog Diseases; Female; Male; Lymphatic Metastasis; Sentinel Lymph Node; Lymph Node Excision; Cohort Studies; Mastocytoma; Mast-Cell Sarcoma; Treatment Outcome
PubMed: 38426589
DOI: 10.1111/jvim.16997 -
The Journal of Allergy and Clinical... May 2024Systemic mastocytosis (SM) is a clonal disorder of mast cells (MCs) frequently associated with vertebral osteoporosis (OP) and subsequent vertebral fractures (VFs). The...
BACKGROUND
Systemic mastocytosis (SM) is a clonal disorder of mast cells (MCs) frequently associated with vertebral osteoporosis (OP) and subsequent vertebral fractures (VFs). The natural history of this OP remains unclear. Importantly, we do not know whether OP represents an early event triggered alongside MC abnormalities, and whether MC clonality is sufficient to trigger osteoporosis.
OBJECTIVE
To describe OP in patients with medullar clonality in cutaneous mastocytosis (CM) and monoclonal mast cell activation syndrome (MMAS) and to compare their osteoporosis characteristics with those of nonadvanced SM patients (bone marrow mastocytosis and indolent systemic mastocytosis).
METHODS
We retrospectively analyzed clinical, biological, and densitometric data of 27 CM, 13 MMAS, and 135 SM patients from the Mastocytosis Expert Center (CEREMAST) in Toulouse, France.
RESULTS
The OP (respectively 3.7, 30.8, and 34.1%) and VFs (0.0%, 15.4%, and 20%) were less frequent in CM than in MMAS and SM, despite the presence of clonal MCs in the bone marrow. Most patients with OP and VFs in the non-SM groups had the usual risk factors for OP. Interestingly, the only non-SM patient with a typical SM-like OP had high bone marrow tryptase, developed bone marrow KIT mutation during follow-up, and had a family history of SM. Our data show that OP is not a common clinical finding in CM but is frequent in MMAS. When OP and VFs occur in CM and MMAS patients, they differ from the usual phenotype of SM bone fragility.
CONCLUSIONS
Our findings suggest that, in most CM patients, the meaning and management of OP differs from that of OP in MMAS and nonadvanced SM. Prospective longitudinal studies and the validation of predictors are needed to identify CM and MMAS patients developing SM-related OP.
Topics: Humans; Osteoporosis; Female; Male; Middle Aged; Adult; Prevalence; Retrospective Studies; Aged; Mastocytosis, Cutaneous; Mastocytosis, Systemic; Mast Cells; France; Bone Marrow; Proto-Oncogene Proteins c-kit; Spinal Fractures
PubMed: 38423295
DOI: 10.1016/j.jaip.2024.02.021 -
The Journal of Allergy and Clinical... Jun 2024
Topics: Humans; Male; Female; Middle Aged; Mastocytosis; Adult; Mast Cells; Aged
PubMed: 38423291
DOI: 10.1016/j.jaip.2024.02.026