Standards of Pathology in the Diagnosis of Systemic Mastocytosis: Recommendations of the EU-US Cooperative Group

Sotlar, Karl; George, Tracy I.; Kluin, Philip M.; Reiter, Andreas; Schwaab, Juliana; Panse, Jens; Brockow, Knut; Hartmann, Karin; Sperr, Wolfgang R.; Kristensen, Thomas Kielsgaard; Nedoszytko, Bogusław; Carter, Melody; Bonadonna, Patrizia; Lyons, Jonathan J.; Kluin‐Nelemans, Hanneke C.; Hermine, Olivier; Akin, Cem; Broesby‐Olsen, Sigurd; Hoermann, Gregor; Triggiani, Massimo; Butterfield, Joseph H.; Jawhar, Mohamad; Gotlib, Jason; Metcalfe, Dean D.; Órfão, Alberto; Arock, Michel; Valent, Peter; Horny, Hans‐Peter

doi:10.1016/j.jaip.2022.05.036

Cited by 14 publications

(6 citation statements)

References 59 publications

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“…Conversely, >90-95% of adults with skin involvement suffer from SM [8]. In this age group, however, a diagnosis of SM has been recommended by ECNM to be always confirmed by a BMB by checking for major and minor criteria for SM (Table 3) [8,9]. Adults with CM, where a BMB has not been performed are diagnosed as "mastocytosis in the skin (MIS)", which is another descriptive term used only for diagnosis and not for morphology.…”

Section: Challenges In the Use Of The Nomenclature For Cutaneous Mast...mentioning

confidence: 99%

Challenges in the Diagnosis of Cutaneous Mastocytosis

Brockow,

Bent,

Schneider

et al. 2024

Diagnostics

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Background: Mastocytosis is characterized by an accumulation of clonal mast cells (MCs) in tissues such as the skin. Skin lesions in mastocytosis may be clinically subtle or heterogeneous, and giving the correct diagnosis can be difficult. Methods: This study compiles personal experiences together with relevant literature, discussing possible obstacles encountered in diagnosing skin involvement in mastocytosis and cutaneous mastocytosis (CM). Results: The nomenclature of the term “CM” is ambiguous. The WHO classification defines CM as mastocytosis solely present in the skin. However, the term is also used as a morphological description, e.g., in maculopapular cutaneous mastocytosis (MPCM). This is often seen in systemic, as well as cutaneous, mastocytosis. Typical CM manifestations (MPCM), including mastocytoma or diffuse cutaneous mastocytosis (DCM), all share a positive Darier’s sign, and can thus be clinically recognized. Nevertheless, distinguishing monomorphic versus polymorphic MPCM may be challenging, even for experienced dermatologists. Less typical clinical presentations, such as MPCM with telangiectatic erythemas (formerly called telangiectasia macularis eruptiva perstans), confluent, nodular or xanthelasmoid variants may require a skin biopsy for histopathological confirmation. Because MC numbers in CM have a large overlap to those in healthy and inflamed skin, detailed histopathological criteria to diagnose mastocytosis in MPCM are needed and have been proposed. D816V KIT mutational analysis in tissue is helpful for confirming the diagnosis. Biomarkers allow the prediction of the course of CM into regression or evolution of the disease. Further diagnostic measures should screen for concomitant diseases, such as malignant melanoma, and for systemic involvement. Conclusions: Whereas in typical cases the diagnosis of CM may be uncomplicated, less typical manifestations may require specific investigations for making the diagnosis and predicting its course.

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Section: Challenges In the Use Of The Nomenclature For Cutaneous Mast...mentioning

confidence: 99%

Challenges in the Diagnosis of Cutaneous Mastocytosis

Brockow,

Bent,

Schneider

et al. 2024

Diagnostics

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“…The classification is based on the presence of 'B' and 'C' findings; readers are referred to the WHO classification guidelines for further review [2]. Systemic mastocytosis, when diagnosed in children, most commonly presents as the indolent systemic subtype [1,7]. Paediatric ISM is not associated with worse prognosis and treatment is usually limited anaphylaxis prevention, symptom control and osteoporosis treatment [13].…”

Section: Paediatric Systemic Mastocytosismentioning

confidence: 99%

“…Mastocytosis encompasses clonal proliferation of mast cells that are phenotypically abnormal and infiltrate organs [1]. Commonly, mast cells infiltrate skin, bone marrow, spleen, liver, lymph nodes and gastrointestinal tract.…”

Section: Introductionmentioning

confidence: 99%

Updates in diagnosis and management of paediatric mastocytosis

Tiano

Krase

Sacco

2022

Current Opinion in Allergy &Amp; Clinical Immunology

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Purpose of reviewPaediatric mastocytosis is a rare clonal disorder characterized by the overproduction and organ infiltration of mast cells. Symptoms are due to mast cell mediator release. Cutaneous mastocytosis is the most common presentation in children with systemic disease being rare. Our aim is to provide a practical guideline in differentiating subtypes of paediatric mastocytosis while providing actionable recommendations on diagnosis, clinical management, follow-up and prognosis. Recent findingsLongitudinal cohort studies of paediatric cutaneous mastocytosis have shown spontaneous remission with favourable prognosis. Hereditary alpha-tryptasemia may coexist with mastocytosis; thus, screening for this disorder is recommended. There is an emerging role for serum tryptase in asthma endotyping and potential for using therapeutic tryptase inhibitors. SummaryMorbidity in paediatric mastocytosis typically arises from symptoms secondary to mast cell mediator release. Prognosis for nonaggressive disease is typically favourable; however, risks for anaphylaxis and psychosocial morbidity may be underestimated. Symptomatic management and anticipatory guidance may help support patients and families throughout the disease course.

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“…In these cases, BM may show an increase in interstitial MCs, with no evidence of MC aggregates [ 9 ]. Consequently, it is mandatory that SM patients are referred to clinical specialists and expert pathologists in centers adequately equipped to offer the specific methodological approaches required [ 10 , 11 ].…”

Section: Introductionmentioning

confidence: 99%

Histopathology and Molecular Genetics in Systemic Mastocytosis: Implications for Clinical Management

Crupi¹,

Sordi²,

Vanderwert³

et al. 2022

IJMS

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The diagnosis of systemic mastocytosis (SM) is based on various clinical, dermatological, serological, and hematological findings but essentially relies on histological evidence of an abnormal increase in tissue-localized mast cells (MCs). The extra-cutaneous organ most frequently affected is the bone marrow (BM), and therefore, histological examination of trephine biopsy specimens of the iliac crest is mandatory on suspicion of SM. At microscopic examination, neoplastic MCs show aberrant morphology, usually with prominent spindling. Immunohistochemistry is a useful tool in the diagnosis of SM because mast cell (MC) infiltrates may be slight and scarce, in a mixed background of lymphohistiocytic cells, eosinophils, and plasma cells. Moreover, neoplastic MCs exhibit an aberrant phenotype. Recent evidence, largely derived from molecular genetics, has enhanced the diagnostic capability of SM, also providing the basis for adequate prognostic and therapeutic evaluation. The cases herein reported illustrate the variable clinical manifestations and disease course of SM, focusing on diagnostic and therapeutic challenges. In accordance with the World Health Organization (WHO) classification and the International Consensus Classification (ICC) systems, our findings emphasize the importance of an integrated diagnostic approach for SM, with proper application of diverse assessment methodologies in order to improve SM classification and treatment effectiveness.

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Standards of Pathology in the Diagnosis of Systemic Mastocytosis: Recommendations of the EU-US Cooperative Group

Cited by 14 publications

References 59 publications

Challenges in the Diagnosis of Cutaneous Mastocytosis

Challenges in the Diagnosis of Cutaneous Mastocytosis

Updates in diagnosis and management of paediatric mastocytosis

Histopathology and Molecular Genetics in Systemic Mastocytosis: Implications for Clinical Management

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