PMC10350626_01
PMC10350626_02
PMC10350626_03
(A1-10) Initial computed tomography (CT) and magnetic resonance imaging (MRI) scans. (A1) Head CT shows bilateral circular nodules of soft tissue near the cavernous sinus (red arrow), approximately 15 x 13 mm (left) and 20 x 17 mm (right). (A2) Lung CT shows multiple nodules in the lungs, with one of the nodules in the right lower lobe and the rest in the basal segment, approximately 7 mm in diameter (red arrow). (A3) Lumbar CT shows bone destruction and soft tissue tumours of the L2 vertebral body and left side of the accessory area (red arrow). Lumbar MRI shows an area of hyposignal intensity in (A4) T1 imaging and slight hyposignal intensity in (A5) T2 imaging (red arrow). (A6) and (A7) Lumbar-enhanced MRI showed flattening of the L2 vertebral body and bone destruction in the left part of the vertebral body and the vertebral arch adnexa. A 25 x 25 mm local irregular soft tissue lesion was found (red arrow). (A8) and (A9) Head MRI. (A10) Enhanced head CT. (B-G) Follow-up images after surgery. Head CT, lung CT and head MRI show that no significant change occurred in the lesions. Lumbar CT and x-ray show postoperative changes.
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F1
L2 vertebral body and the left side of the accessory area (Figures 1A1-A3). Lumbar-enhanced MRI showed flattening of the L2 vertebral body and bone destruction in the left part of the vertebral body and the vertebral arch adnexa. T1 imaging and slight hyposignal intensity in T2 imaging was observed (Figures 1A4,A5). The mass protruded into the spinal canal, and adjacent to the vertebral body, the left psoas major muscle was significantly shifted. There was mild atrophy and intermediate enhancement of the psoas major muscle on the left side compared to the right side (Figures 1A6,A7). Head MRI revealed bilateral nodular soft tissue signal lesions near the cavernous sinus (Figures 1A8,A9). Head-enhanced CT also showed tumour masses with significant enhancement (Figure 1A10). There was no recurrence or metastasis in the lumbar tumour and no significant change in the other lesions (Figures 1B-G) more than two years after surgery.
(B1) Pathological section of the lumbar spine(hematoxylin and eosinStain, 200x). (B2) Positive EBER-ISH indication for the lumbar spine(400x). (B3) Immunohistochemistry for smooth muscle actin in the lumbar mass(400x). (B4) Pathological section of the right intrabronchial mass(Hematoxylin and EosinStain, 200x). (B5) Positive EBER-ISH indication for the bronchial masses(400x). (B6) Immunohistochemistry for smooth muscle actin in the bronchial masses(400x).
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F2
L2 vertebral body and the left side of the accessory area (Figures 1A1-A3). Lumbar-enhanced MRI showed flattening of the L2 vertebral body and bone destruction in the left part of the vertebral body and the vertebral arch adnexa. Immunohistochemistry for smooth muscle actin confirmed the smooth muscle nature of the tumours in the lumbar mass (Figures 2B1-B3). Immunohistochemistry for smooth muscle actin confirmed the smooth muscle nature of the tumours in the bronchial masses (Figures 2B4-B6).
(C1) The genetic test results of the father were heterozygous for this mutation. (C2) There was a novel mutation in the ITK gene [c.725_730delAGAGTA (p.K242_S243del), located on chromosome 5]. The child was homozygous for this mutation. (C3) The genetic test results of the mother were heterozygous for this mutation.
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F3
L2 vertebral body and the left side of the accessory area (Figures 1A1-A3). Lumbar-enhanced MRI showed flattening of the L2 vertebral body and bone destruction in the left part of the vertebral body and the vertebral arch adnexa. Immunohistochemistry for smooth muscle actin confirmed the smooth muscle nature of the tumours in the lumbar mass (Figures 2B1-B3). The child was homozygous for this mutation, and the mother and father were both heterozygous for this mutation (Figure 3). Immunohistochemistry for smooth muscle actin confirmed the smooth muscle nature of the tumours in the bronchial masses (Figures 2B4-B6).
Outline of the patient's treatment record.
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F4
Immunohistochemistry for smooth muscle actin confirmed the smooth muscle nature of the tumours in the bronchial masses (Figures 2B4-B6). The patient's follow-up remains ongoing (Figure 4).