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.
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.
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].
Systemic mastocytosis of the bone marrow
Based on the provided CT images, the following key features can be observed:
1. The density of the vertebral bodies and some trabeculae is uneven, showing focal areas of osteosclerosis (high density) coexisting with possible osteoporotic regions.
2. In parts of the thoracic and lumbar vertebrae, diffuse or patchy sclerotic shadows with relatively clear boundaries can be seen.
3. No obvious sign of acute fracture is observed, and the vertebral bodies appear generally intact. However, due to changes in bone density, there is a potential risk of fracture that should be monitored.
4. Regarding soft tissues, no significant invasive lesions or extensive soft tissue masses are noted.
5. No obvious abnormalities are visible in the colon and surrounding structures, consistent with the description of a “normal CT colonography.”
Taking into account the 77-year-old female patient, who has no previous history of malignant tumors, and CT findings indicating mixed areas of osteosclerosis and osteopenia, the following differential diagnoses should be considered:
Given the patient’s bone changes, presenting both osteosclerotic and osteopenic features, and the accompanying clinical information (no prior tumor history, changes in bowel habits prompting the CT colonography that revealed these abnormalities), the most likely diagnosis is:
Systemic Mastocytosis (SM).
Further recommendations include:
If these evaluations confirm or strongly indicate SM, the diagnosis can be further substantiated.
After assessing the patient’s bone condition, safety, and cardiopulmonary function, a gradual exercise plan is recommended:
For patients with fragile bones, special care should be taken to use fall-prevention measures, choose stable environments for exercise, and strengthen balance training, such as seated or supported lower limb exercises with a limited range of motion.
Disclaimer:
The above report provides only a reference for medical analysis and is not a substitute for face-to-face consultations or professional medical advice. A specific diagnosis and treatment plan must be developed by qualified medical professionals, based on the patient’s complete medical history, physical examination, and additional diagnostic tests.
Systemic mastocytosis of the bone marrow