Systemic mastocytosis revisited with an emphasis on skeletal manifestations

Leone, Alessandro; Criscuolo, Marianna; Gullì, Consolato; Petrosino, Antonella; Bianco, Nicola Carlo; Colosimo, Cesare

doi:10.1007/s11547-020-01306-8

Cited by 15 publications

(17 citation statements)

References 63 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…11,19 This uncommon skeletal feature is often associated with osteosclerotic foci or diffuse osteosclerosis in the spine, pelvis, and at the meta-epiphysis of long bones. 12 When skeletal involvement presents as single osteolysis with a well or poorly defined edge or surrounded by a sclerotic" halo" which has been reported as an additional skeletal pattern in SM, 20 its characterization may be challenging (Figure 4). It might require a bone lesion biopsy.…”

Section: Imaging Findingsmentioning

confidence: 99%

“…The most common types of skeletal abnormalities comprise: 1) multiple focal sclerotic bone lesions affecting both the axial and appendicular skeleton ( Figure 1 , and 2 ) diffuse, well-defined, roundish, sclerotic foci alternating with zones with apparently normal or reduced bone density, predominating in the axial skeleton, ribs, humerus, and femur ( Figure 2 ). 11 , 12 However, when such lesions are radiologically identified, final diagnosis remains extremely challenging since they resemble osteopoikilosis or metastases. 13 , 14 Osteopoikilosis is an asymptomatic bone dysplasia characterized by numerous bony islands typically clustered around joints within the meta-epiphyseal regions, carpal and tarsal bones, the pelvic ring, and scapulae.…”

Section: Imaging Findingsmentioning

confidence: 99%

See 1 more Smart Citation

Systemic Mastocytosis: Radiological Point of View

Leone

Macagnino

D’Ambra

et al. 2021

Mediterr J Hematol Infect Dis

Self Cite

View full text Add to dashboard Cite

Radiological diagnosis of systemic mastocytosis (SM) can be hard to establish. This is mainly due to the variable radiological features involving many organ systems (e.g., respiratory, cardiovascular, lympho-reticular, digestive systems, and most commonly skin), and the broad spectrum of skeletal findings, in particular. Skeletal involvement is the most common and prominent imaging feature in patients with SM and represents a prognostic factor as it may entail an aggressive course of the disease. Diagnosis, which is largely established by histological evaluation of a bone marrow trephine biopsy specimen supplemented by imaging modalities such as radiography, CT, and magnetic resonance imaging, requires a team approach between the hematologist, radiologist, and pathologist. The general radiologist needs to be familiar with the imaging findings because they may be the first to suggest the correct diagnosis. The primary purposes of this article were to equip clinicians with pertinent radiological semiotics and present relevant radiological features that assist early diagnosis and selection of an effective treatment.

show abstract

Section: Imaging Findingsmentioning

confidence: 99%

Section: Imaging Findingsmentioning

confidence: 99%

Systemic Mastocytosis: Radiological Point of View

Leone

Macagnino

D’Ambra

et al. 2021

Mediterr J Hematol Infect Dis

Self Cite

View full text Add to dashboard Cite

show abstract

“…Sometimes, in the context of a sclerotic bone, small lytic lesions may be identified. A small percentage of patients may also have single or multiple focal sclerotic or lytic lesions [ 63 , 66 ].…”

Section: Osteoporosis and Bmmmentioning

confidence: 99%

Bone Marrow Mastocytosis: A Diagnostic Challenge

Zanotti

Tanasi

Bernardelli

et al. 2021

JCM

View full text Add to dashboard Cite

Bone marrow mastocytosis (BMM) represents a provisional, indolent subvariant of systemic mastocytosis (SM). Utilizing WHO criteria, BMM requires bone marrow (BM) involvement and the absence of mastocytosis skin lesions. BMM is characterized by male sex prevalence, a slight increase of serum tryptase levels, low BM mast cells (MC) burden, and an indolent clinical course. BMM shows a strong correlation with severe anaphylaxis, mainly due to an IgE-mediated allergy to bee or wasp venom and, less frequently, to unexplained (idiopathic) anaphylaxis. Furthermore, BMM is often associated with osteoporosis which could be the only presenting symptom of the disease. BMM is an undervalued disease as serum tryptase levels are not routinely measured in the presence of unexplained osteoporosis or anaphylaxis. Moreover, BMM patients are often symptom-free except for severe allergic reactions. These factors, along with typical low BM MCs infiltration, may contribute to physicians overlooking BMM diagnosis, especially in medical centers that lack appropriately sensitive diagnostic techniques. This review highlights the need for a correct diagnostic pathway to diagnose BMM in patients with suspected symptoms but lacking typical skin lesions, even in the case of normal serum tryptase levels. Early diagnosis may prevent potential life-threatening anaphylaxis or severe skeletal complications.

show abstract

“…SM with an associated hematologic neoplasm is the second most common variant of SM. It meets the diagnostic criteria for SM along with a non-mast cell disorder such as myeloproliferative neoplasm (MPN), myelodysplastic syndrome (MDS), or acute myeloid leukemia (AML) [19,21]. The most common neoplasm associated with SM is chronic myelomonocytic leukemia (CMML) [22].…”

Section: Systemic Mastocytosismentioning

confidence: 99%

“…Magnetic resonance imaging (MRI) and computed tomography (CT) are the best imaging modalities to evaluate osseous lesions and bone marrow. CT is very helpful in evaluating for focal sclerotic or lytic lesions (Figure 1) [21]. Bone lesions in SM can be lytic, sclerotic, or mixed (Figure 2) [25,26].…”

Section: Skeletalmentioning

confidence: 99%

Mastocytosis—A Review of Disease Spectrum with Imaging Correlation

Elsaiey

Mahmoud

Jensen

et al. 2021

Cancers

View full text Add to dashboard Cite

Mastocytosis is a rare disorder due to the abnormal proliferation of clonal mast cells. Mast cells exist in most tissues, mature in situ from hematopoietic stem cells and develop unique characteristics of local effector cells. Mastocytosis develops by activation mutation of the KIT surface receptor which is involved in the proliferation of a number of cell lines such as mast cells, germ cells, melanocytes, and hematopoietic cells. It manifests as two main categories: cutaneous mastocytosis and systemic mastocytosis. Imaging can play an important role in detection and characterization of the disease manifestation, not only by radiography and bone scans, but also magnetic resonance imaging and computed tomography, which can be more sensitive in the assessment of distinctive disease patterns. Radiologists should be aware of various appearances of this disease to better facilitate diagnosis and patient management. Accordingly, this review will discuss the clinical presentation, pathophysiology, and role of imaging in detection and extent estimation of the systemic involvement of the disease, in addition to demonstration of appearance on varying imaging modalities. Familiarity with the potential imaging findings associated with mastocytosis can aid in early disease diagnosis and classification and accordingly can lead directing further work up and better management.

show abstract

Systemic mastocytosis revisited with an emphasis on skeletal manifestations

Cited by 15 publications

References 63 publications

Systemic Mastocytosis: Radiological Point of View

Systemic Mastocytosis: Radiological Point of View

Bone Marrow Mastocytosis: A Diagnostic Challenge

Mastocytosis—A Review of Disease Spectrum with Imaging Correlation

Contact Info

Product

Resources

About