Acute aleukemic mast cell leukemia: Report of a case and review of the literature

Galura, Gian; Cherukuri, Sundar V.; Hakim, Nawar; Gaur, Sumit; Orazi, Attilio

doi:10.1016/j.lrr.2020.100230

Cited by 5 publications

(8 citation statements)

References 24 publications

(46 reference statements)

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“…Peripheral blood KIT testing can be used to help establishing the clonality of MC disease [33]. Unlike other types of SM, only 40-67% of MCL cases have the typical KIT D816V mutation [5,34,35]. In a proportion of MCL cases, atypical mutations in the KIT gene such as D816H/Y or F522C are identified or wild-type KIT may be present [5,34,35].…”

Section: Molecular Featuresmentioning

confidence: 99%

“…Unlike other types of SM, only 40-67% of MCL cases have the typical KIT D816V mutation [5,34,35]. In a proportion of MCL cases, atypical mutations in the KIT gene such as D816H/Y or F522C are identified or wild-type KIT may be present [5,34,35]. In ASM and MCL, concurrent mutations in SRSF2, TET2, ASXL1, RUNX1, K/N-RAS, CBL, and EZH2 can be seen [5,[34][35][36].…”

Section: Molecular Featuresmentioning

confidence: 99%

“…The presence of SRSF2/ASXL1/RUNX1 mutations (S/A/R) in patients with MCL has been proposed to be an independent predictor for poor survival [5,[34][35][36].…”

Section: Molecular Featuresmentioning

confidence: 99%

See 2 more Smart Citations

Gastrointestinal Manifestations in Systemic Mastocytosis: The Need of a Multidisciplinary Approach

Zanelli

Pizzi

Sanguedolce

et al. 2021

Cancers

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Mastocytosis represents a heterogeneous group of neoplastic mast cell disorders. The basic classification into a skin-limited disease and a systemic form with multi-organ involvement remains valid. Systemic mastocytosis is a disease often hard to diagnose, characterized by different symptoms originating from either the release of mast cell mediators or organ damage due to mast cell infiltration. Gastrointestinal symptoms represent one of the major causes of morbidity, being present in 60–80% of patients. A high index of suspicion by clinicians and pathologists is required to reach the diagnosis. Gastrointestinal mastocytosis can be a challenging diagnosis, as symptoms simulate other more common gastrointestinal diseases. The endoscopic appearance is generally unremarkable or nonspecific and gastrointestinal mast cell infiltration can be focal and subtle, requiring an adequate sampling with multiple biopsies by the endoscopists. Special stains, such as CD117, tryptase, and CD25, should be performed in order not to miss the gastrointestinal mast cell infiltrate. A proper patient’s workup requires a multidisciplinary approach including gastroenterologists, endoscopists, hematologists, oncologists, and pathologists. The aim of this review is to analyze the clinicopathological features of gastrointestinal involvement in systemic mastocytosis, focusing on the relevance of a multidisciplinary approach.

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Section: Molecular Featuresmentioning

confidence: 99%

Section: Molecular Featuresmentioning

confidence: 99%

See 1 more Smart Citation

Gastrointestinal Manifestations in Systemic Mastocytosis: The Need of a Multidisciplinary Approach

Zanelli

Pizzi

Sanguedolce

et al. 2021

Cancers

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“…It is also considered a form of acute leukemia, defined by the presence of at least 20% neoplastic MCs in the BM and 10% in the PB. The spread of MCs may affect different organs with typical aggressive manifestations, such as constitutional symptoms, cytopenia, hepatic malfunction, hypersplenism, and malabsorption [38,39]. In addition to driver mutation KIT D816V, somatic mutations in SRF2, ASXL1, RUNX1, TET2, CBL, K/N-RAS, and EZH2 have been identified in MCL patients, explaining, at least in part, the more aggressive course and poorer survival of MCL compared to other SM variant [40].…”

Section: Mast Cell Sarcoma (Mcs)mentioning

confidence: 99%

Precision Medicine in Systemic Mastocytosis

et al. 2021

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Mastocytosis is a rare hematological neoplasm characterized by the proliferation of abnormal clonal mast cells (MCs) in different cutaneous and extracutaneous organs. Its diagnosis is based on well-defined major and minor criteria, including the pathognomonic dense infiltrate of MCs detected in bone marrow (BM), elevated serum tryptase level, abnormal MCs CD25 expression, and the identification of KIT D816V mutation. The World Health Organization (WHO) classification subdivides mastocytosis into a cutaneous form (CM) and five systemic variants (SM), namely indolent/smoldering (ISM/SSM) and advanced SM (AdvSM) including aggressive SM (ASM), SM associated to hematological neoplasms (SM-AHN), and mast cell leukemia (MCL). More than 80% of patients with SM carry a somatic point mutation of KIT at codon 816, which may be targeted by kinase inhibitors. The presence of additional somatic mutations detected by next generation sequencing analysis may impact prognosis and drive treatment strategy, which ranges from symptomatic drugs in indolent forms to kinase-inhibitors active on KIT. Allogeneic stem cell transplant (SCT) may be considered in selected SM cases. Here, we review the clinical, diagnostic, and therapeutic issues of SM, with special emphasis on the translational implications of SM genetics for a precision medicine approach in clinical practice.

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“…Mast cell leukemia (MCL), which was first described by Joachim in 1906, represents the most uncommon form of systemic mastocytosis (SM) and is seen in less than 5% of all SM patients [ 1 , 2 , 3 , 4 , 5 , 6 , 7 , 8 , 9 ].…”

Section: Introductionmentioning

confidence: 99%

Mast Cell Leukemia: An Update with a Practical Review

Zanelli

Quintini

Magnasco

et al. 2023

Cancers

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Mast cell leukemia (MCL) is the leukemic form of SM with at least 20% mostly immature mast cells on bone marrow aspirate. MCL may develop de novo, in the absence of a prior SM, or it may represent a progression from a previous SM. MCL may be sub-divided into the more frequent, aggressive acute form with signs of organ damage (C-findings) and the chronic form lacking C-findings and presenting a more stable course, although over time, progression to acute MCL is common. The 2022 WHO subtype of MCL with an associated hematological neoplasm was renamed MCL with an associated myeloid neoplasm in the 2022 International Consensus Classification (ICC). The relevance of the distinction between the leukemic and aleukemic forms based on the percentage of circulating mast cells is a matter of debate. The current knowledge on MCL is restricted mainly to single reports or case series with a limited number of larger studies. Our aim is to provide a comprehensive overview of this rare disease in terms of clinical manifestations, morphology, phenotype, molecular characteristics, differential diagnosis, outcome and treatment. A general overview on mastocytosis is also included.

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Acute aleukemic mast cell leukemia: Report of a case and review of the literature

Cited by 5 publications

References 24 publications

Gastrointestinal Manifestations in Systemic Mastocytosis: The Need of a Multidisciplinary Approach

Gastrointestinal Manifestations in Systemic Mastocytosis: The Need of a Multidisciplinary Approach

Precision Medicine in Systemic Mastocytosis

Mast Cell Leukemia: An Update with a Practical Review

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