Clinical features and survival of patients with indolent systemic mastocytosis defined by the updated WHO classification

Trizuljak, Jakub; Sperr, Wolfgang R.; Nekvindová, Lucie; Elberink, Hanneke Oude; Gleixner, Karoline V.; Górska, Aleksandra; Lange, Magdalena; Hartmann, Karin; Illerhaus, Anja; Bonifacio, Massimiliano; Perkins, Cecelia; Elena, Chiara; Malcovati, Luca; Fortina, Anna Belloni; Shoumariyeh, Khalid; Jawhar, Mohamad; Zanotti, Roberta; Bonadonna, Patrizia; Caroppo, Francesca; Zink, Alexander; Triggiani, Massimo; Parente, Roberta; Bubnoff, Nikolas von; Yavuz, Akif Selim; Hägglund, Hans; Mattsson, Mattias; Panse, Jens; Jäkel, Nadja; Kilbertus, Alex; Hermine, Olivier; Arock, Michel; Fuchs, David; Sabato, Vito; Brockow, Knut; Bretterklieber, Agnes; Niedoszytko, Marek; Anrooij, Björn van; Reiter, Andreas; Gotlib, Jason; Kluin‐Nelemans, Hanneke C.; Mayer, Jiřı́; Doubek, Michael; Valent, Peter

doi:10.1111/all.14248

Cited by 54 publications

(61 citation statements)

References 34 publications

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“…5 Darier's sign has a positive rate of 67% in ISM patients. 6 Hyperpigmentation is sometimes di cult to discern, especially with the dark brown skin of Southeast Asians; hence, ISM might be underreported in the Asian population. There is no clear evidence that ethnic differences affect the degree and morphology of the rash in mastocytosis.…”

Section: Discussionmentioning

confidence: 99%

“…The overall survival ranges from 25.1 to 28.4 years. 6,14 The chance of progression to advanced SM has been reported as 2.9%. 6 As well, the ISM predictors affecting event-free survival are an older age, male sex, low-performance status, and lymphadenopathy.…”

Section: Discussionmentioning

confidence: 99%

“…6,14 The chance of progression to advanced SM has been reported as 2.9%. 6 As well, the ISM predictors affecting event-free survival are an older age, male sex, low-performance status, and lymphadenopathy. 6 In our case, the patient's disease remained indolent throughout the 2-year follow-up.…”

Section: Discussionmentioning

confidence: 99%

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Unusual Urticaria Pigmentosa in an Asian Man With Indolent Systemic Mastocytosis: A Case Report

Wongsa¹,

Sompornrattanaphan²,

Thongngarm³

et al. 2020

Preprint

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Background: The diagnosis of mastocytosis remains challenging. Given that the disease has a low prevalence and its clinical presentations range from asymptomatic to severe life-threatening conditions, physicians’ lack of awareness of mastocytosis is the main barrier to its diagnosis. Skin involvement is common. In adults, skin lesions are highly suggestive of systemic mastocytosis; however, clinical demonstration of lesions is difficult if they are minimal in number. In Asian, who had dark brown skin color, urticaria pigmentosa was not easy to identify. Here we present the case of indolent systemic mastocytosis with an unusual urticaria pigmentosa. Case presentation: A 48-year-old man had had recurrent severe honeybee anaphylaxis since he was 23. He had small, subtle, brownish skin lesions on his chest and abdomen, which he and previous physicians had not recognized. The skin lesions were compatible with urticaria pigmentosa, also known as maculopapular cutaneous mastocytosis. His clinical findings and an elevated baseline tryptase level triggered a thorough systemic mastocytosis investigation. The skin and bone marrow were infiltrated by abnormal, spindle-shaped mast cells, and KIT and TET2 mutations were in the patient’s serum. The honeybee anaphylaxis mechanism in this patient was IgE mediated, supported by a positive result of specific IgE to honeybee. The final diagnosis was indolent systemic mastocytosis with IgE-mediated honeybee anaphylaxis. As venom immunotherapy is unavailable in Thailand, we prescribed treatment with a regular, oral, nonsedating H1-antihistamine and an epinephrine self-injector. At the 2-year follow-up, the patient had not progressed to advanced systemic mastocytosis nor experienced any anaphylactic episodes.Conclusion: Urticaria pigmentosa is a small, round, brown, or red maculopapular lesion. In the Asian population with dark brown skin color, physician should be exclusively careful examination, particularly in a hidden area and in anaphylaxis cases. Early recognition of urticaria pigmentosa in the adult patient might reduce the delay in diagnosis of indolent systemic mastocytosis.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Unusual Urticaria Pigmentosa in an Asian Man With Indolent Systemic Mastocytosis: A Case Report

Wongsa¹,

Sompornrattanaphan²,

Thongngarm³

et al. 2020

Preprint

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“…The actual prognostic relevance of SSM is debated [5]. In a large retrospective study by European Competence Network on Mastocytosis (ECNM), survival estimates of SSM patients were similar to those of ISM ones [6]. The apparent prognostic weight of disease burden might depend more on age than the specific biological distinction [7].…”

Section: Who Classificationmentioning

confidence: 99%

Catching the clinical and biological diversity for an appropriate therapeutic approach in systemic mastocytosis

Mannelli

2020

Ann Hematol

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Systemic mastocytosis (SM) is a rare disease calling for integrated approaches involving onco-hematologic competences for appropriate clinical management and treatment. The wide variability of manifestations and disease course claims for an accurate risk stratification, currently relying on the appraisal of the benefit/risk ratio of treatment modalities within indolent and advanced variants according to WHO classification. More objective parameters are progressively incorporated and integrated into comprehensive models, on which to support the adoption of therapeutic strategies, since the mere clinical distinction between mediator-related signs/symptoms and "true" organ damage can sometimes be complicated. The development of novel targeted drugs is progressively extending the therapeutic alternatives available, which ranges from conventional agents such as interferon and cladribine, to the more modern approach based on KIT inhibition. Ultimately, the choice of the most appropriate therapy should be rationalized on the basis of the clinical picture and molecular data. The focus of the present review is on the areas still open in the current evaluation of SM patients, particularly when considering the need of a treatment.

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“…Mastocytosis occurs more frequently in children (65%). Among adult patients, the onset is most commonly observed between 20 and 40 years of age 2 …”

Section: Introductionmentioning

confidence: 99%

Cutaneous mastocytosis: A dermatological perspective

Raimondo¹,

Duca²,

Silvaggio³

et al. 2020

Aust J Dermatology

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Mastocytosis is a rare disease characterised by expansion and collection of clonal mast cells in various organs including the skin, bone marrow, spleen, lymph nodes and gastrointestinal tract. The prevalence of mastocytosis has been estimated to be one in 10 000, while the estimated incidence is one per 100 000 people per year. Cutaneous mastocytosis is classified into (i) maculopapular cutaneous mastocytosis, also known as urticaria pigmentosa; (ii) diffuse cutaneous mastocytosis; and (iii) mastocytoma of the skin. In adults, cutaneous lesions are usually associated with indolent systemic mastocytosis and have a chronic evolution. Paediatric patients, on the contrary, have often cutaneous manifestations without systemic involvement and usually experience a spontaneous regression. Diagnosis of cutaneous mastocytosis may be challenging due to the rarity of the disease and the overlap of cutaneous manifestations. This short review describes pathogenesis and clinical aspects of cutaneous mastocytosis with a focus on diagnosis and currently available therapies.

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Clinical features and survival of patients with indolent systemic mastocytosis defined by the updated WHO classification

Cited by 54 publications

References 34 publications

Unusual Urticaria Pigmentosa in an Asian Man With Indolent Systemic Mastocytosis: A Case Report

Unusual Urticaria Pigmentosa in an Asian Man With Indolent Systemic Mastocytosis: A Case Report

Catching the clinical and biological diversity for an appropriate therapeutic approach in systemic mastocytosis

Cutaneous mastocytosis: A dermatological perspective

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