Systemic mastocytosis

Clinical Cases 28.05.2013
Scan Image
Section: Musculoskeletal system
Case Type: Clinical Cases
Patient: 77 years, female
Authors: Kroon HM, Fernandes NC
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Clinical History

A 77–year-old woman was seen by her general practitioner because of a changed defecation pattern. On a CT colonography, which was otherwise normal, bone abnormalities were present. The patient had no previous history of malignancy.

Imaging Findings

CT abdomen demonstrated sclerotic lesions of variable size diffusely distributed in the spinal column, the pelvis, shoulder girdle and hip region (Fig. 1-4). Biopsy proved it to be caused by mastocytosis.

Discussion

In Systemic Mastocytosis (SM) there is an accumulation of morphologically and immunophenotypically abnormal mast cells in various organs [1- 3]. Bone marrow infiltration may be the only tissue involved [1]. One possible pathophysiologic mechanism in SM is chemotaxis and proliferation of mast cells promoted by autocrine or paracrine secretion of stem cell factor. Another possible pathophysiologic mechanism is associated with the abnormal level of tyrosine kinase receptors on the surface of the mast cells which in turn leads to activation of the latter [1].
Bone marrow infiltration is usually asymptomatic, but spine pain and arthralgia may be present [1]. Flushing, gastrointestinal complaints and anaphylaxis can be other symptoms [3].
According to the WHO SM is diagnosed when one major and one minor or three minor criteria are present [3]. The major criterion is multifocal, dense aggregates of mast cells in bone marrow and/ or extracutaneous biopsy. The minor criteria are > 25% of the masts cells in bone marrow or extracutaneous tissue with atypical morphology, mast cells in bone marrow co-expressing CD117 with CD2 and/ or CD25, the presence of KIT pointmutation at codon 816 in bone marrow, blood, or other extracutaneous organs and serum total tryptase persistently >20 ng/ml [2, 3].
Skeletal involvement in SM is evaluated with plain radiographs, CT, MR and bone scintigraphy. Disease extend can be demonstrated with bone scintigram. CT and MRI are more sensitive than conventional radiographs. Bone marrow infiltration is best detected on MRI. Imaging can also be used to monitor therapy and asses for complications like impending fractures or neuroforaminal stenosis [1, 3, 4].
Skeletal abnormalities include in decreasing frequency osteopenia/ osteoporosis, osteosclerosis, or a combination of both. Osteolytic lesions can be well or poorly demarcated and may be surrounded by a sclerotic zone. On MR bone marrow infiltration is hypo-intense on T1-weighted imaging. On T2-weightedSTIR imaging bone marrow infiltration is hyper-intense but may be hypo-intense, depending on the proliferation of fibroblast. Sclerotic lesions are hypo-intense on T1 and T2 sequences. The distribution can be diffuse or focal with predominance in the axial and /or the appendicular skeleton. In response to treatment T1-weighted signal is increasing while T2-weighted signal decreases. Because of the osteopenia pathologic fractures are seen in 16% of the cases [1, 4].
The therapy for SM is palliative [3].
Elderly age and bone involvement in SM are associated with a poor prognosis [1].

Differential Diagnosis List

Systemic mastocytosis of the bone marrow
Multiple myeloma and POEMS syndrome
Metastasis of unknown primary
Leukemia
Osteopetrosis
Myelofibrosis
Paget diease
Sickle cell disease
Gaucher disease

Final Diagnosis

Systemic mastocytosis of the bone marrow

Liscense

Figures

Axial CT

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Axial CT
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Axial CT

Coronal reconstruction CT

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Coronal reconstruction CT

Sagittal reconstruction CT

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Sagittal reconstruction CT