From: Cervical amyloidoma of transthyretin type: a case report and review of literature
Reference | Age | Sex | Clinical Symptoms | Imaging | Treatment | Outcome | Histological Description | CTS Hx | Spinal Stenosis |
---|---|---|---|---|---|---|---|---|---|
Dickman 1998 [4] | 74 | M | Upper cervical pain radiating to occiput and shoulders. | CT: C2 mass with bubbly-appearing cortical shell and complete central lucency. | Open biopsy and tumor resection via midline posterior approach. Second surgery involved fusion of C1-C3 with iliac bone graft. | Postoperatively exhibited no new neurological deficits. Patients died 3-months postoperative due to sudden myocardial infarction. | Demonstrated waxy-appearing Congo red-positive substance with green birefringence to polarized light. | Not reported. | Not reported. |
Mullins 1997 [5] | 58 | M | Chest discomfort in midsternal/epigastric region precipitated by coughing and valsava. | MRI T1: Abnormal enhancement of the C7 vertebral body and posterior elements. | C6-C7 laminectomy and corpectomies completed with iliac bone graft and C4-T2 fusion. | 12-month follow up revealed stable spine construct and no evidence of recurrence. | Stains revealed Congo red stain for amyloid, and green birefringence under polarized light. | Not reported. | Not reported. |
Porchet 1998 [6] | 73 | M | 6-year history of progressive numbness and spasticity in all limbs, predominantly the right side, dragging right leg, and neck pain. | 1991 MRI: partially enhancing C1-C2 mass with odontoid erosion. 1995 MRI: enlargement of enhancing mass found from the clivus-C2. | 1991: laminectomy from C1-C4. 1995: Trans-oral odontoidectomy with resection; C1-C2 transarticular screw fixation. | 1991: Decreased right hand numbness, increase strength and coordination in all extremities, resuming to normal activity. 1995: At 7-months postop, able to ambulate half a mile, numbness resolved, and right lower limb strength returned to normal. | Positive Congo red stain with apple-green birefringence under polarized light. Immuno-histochemical staining was positive for β2M. | Bilateral carpal tunnel release in 1981, although this did not improve symptoms. | Not reported. |
Moonis 1999 [7] | 79 | M | Progressive dysphagia, weakness in his arms and legs, rapid weight loss, and neck pain. | MRI: Peri-odontoid 3 × 2 cm hypointense mass. | Anterior microdissection of the tumor and posterior fusion from occiput to C3. | Not reported. | Stained positive for amyloid using Congo red stain. β2M antibodies revealed intense staining. | Carpal tunnel release 2 years prior. | Not reported. |
Hwang 2000 [8] | 45 | F | Paraparesis, urinary incontinence, and 3-month long neck pain. | MRI: Inhomogeneous hypointense mass at C7 with partial collapse of the bony anatomy. | Decompressive corpectomy with anterior fusion from C6-T1. | After the operation, the patient’s paraparesis and urinary incontinence resolved completely. 3-year follow-up reported no specific symptoms. | Positive Congo red stain, with green birefringence to polarized light. | Not reported. | Not reported. |
Mulleman 2004 [9] | 79 | F | Acute cervical pain and spastic tetraparesia occurring after a fall. | MRI: Peripheral enhancing hypointense retro-odontoid mass with compression at C1-C2. | Transoral approach for removal of mass. Underwent C1-C2 transarticular screw fixation 3-weeks postop. | Improved sphincter tone and strength in all limbs. Improved neurological function post rehabilitation. | Slightly positive for prealbumin/ATTR subtype. | Yes. | Not reported. |
Shenoy 2004 [10] | 58 | M | Neck pain, progressive weakness of the limbs, and dysphagia for 2 months. | MRI T1: hypointense mass with bony destruction at C1-C2. | Intubated and given ventilatory support due to rapid decline in respiratory function. | Progressively worsened and developed bleeding diathesis and died. | Post-death transoral biopsy revealed amyloid deposits under Congo red stain with apple-green birefringence under polarized light. | Not reported. | Not reported. |
Belber 2004 [11] | 72 | M | Acute non-radicular left arm pain, followed by mild right arm and leg pain. | MRI: C1-C3 hypointense lesion. | Bilateral C2 decompression and partial C1 laminectomy. | Discharged home day 10 postop fully ambulatory. Died 3 months later during management of MM. | Exhibited typical apple green birefringence under polarized light on Congo Red stain. | Not reported. | Not reported. |
Samandouras 2006 [12] | 75 | F | Progressive lower limb stiffness over 16 years. | MRI T2: C2 hyperintense pannus with a cystic lesion. Mild erosion present on posterior cortical margin of C2. | C1-C2 laminectomy with excision of the cystic mass. | Not reported. | Positive for Congo red stain. Presumed to be AL, immune-histochemistry studies included AA and ATTR types. | Not reported. | Not reported. |
Iplikcioglu 2007 [13] | 72 | M | 4-year history of progressive weakness and numbness in both upper limbs, and neck pain. | MRI: Soft tissue isointense mass at C6-C7 with vertebral body destruction. | Anterior approach for resection of the C6-C7 mass with acrylic vertebroplasty. | Uneventful postoperative course and quadriparesis was decreased. | Tissue stained with Congo red under polarized light revealed yellow-green birefringence with deposits of primary (AL) amyloid. | Not reported. | Not reported. |
Vignes 2007 [14] | 50 | F | Paresthesia in the hand and shoulder with progressive cervical pain. | MRI T1: hypointense C2-C3 lateral mass | C2-C3 laminectomy and tumor excision. | Improvement of neuralgia syndrome and neuropathic pain; however, required a cervical collar for 3 months. | Positive Congo red stain and birefringent under polarized light. Immuno- histochemistry revealed presence of β2M. | History of bilateral carpal tunnel operation with recurrent syndrome. | Not reported. |
Oruckaptan 2009 [15] | 47 | M | Headache | MRI T1: hyperintense C1-C2 lesion with hypointense center. | Complete resection of the lesion and concomitant acrylic cranioplasty. | Uneventful postoperative course. | Congo red and crystal violet dyes verified diagnosis of amyloidoma. Protein electrophoresis showed β2M. | Not reported. | Not reported. |
Farrell 2011 [16] | 75 | M | Right leg weakness and paresthesia in all four limbs followed by acute quadriparesis. | MRI: Paravertebral isointense soft tissue mass from C6-C7. | Radiotherapy, surgical debulking, Bortezomib, and Dexamethasone. | Cervical amyloidoma diagnosed in 1993, with symptoms returning in 2006. Final treatment in 2009 led to gradual improvement in leg power and normal arm power over 8-months. | Congo red staining demonstrated apple-green birefringence. Noted to express lambda-restricted immunoglobulin. | Not reported. | Not reported. |
Hsu 2011 [17] | 65 | M | Progressive lower leg weakness and numbness over 2 years followed by quadriplegia. | MRI T2: C5-C6 hyperintense lesion with C6 vertebral body destruction. | Laminectomy with resection. | Dramatic improvement in muscle strength, at the time of the report the patient would walk without limitation. | Positive Congo red stain with a previous biopsy revealing β2M deposits. | Developed bilateral carpal tunnel syndrome after 8-years of regular hemodialysis. | Not reported. |
Sueyoshi 2011 [18] | 71 | M | Urinary incontinence, sensory disturbances in the arms, and became unable to ambulate. | MRI: Contrast-enhancing extradural mass at C3-C4 with severe osteolysis of the vertebral body. | C3-C7 laminoplasty, bilateral C5 foraminotomy, and lumbar spinal fusion. | Upper limb weakness moderately improved; other symptoms partially improved and did not worsen. | Positive for amyloid deposits. Detected ATTRwt using mass spectrometric analysis. | No; however, nerve conduction study revealed prolonged sensory latency of the median nerve consistent with CTS. | MRI showed spinal canal stenosis due to osteophytes at L3-L4. |
Takeshima 2012 [19] | 51 | F | Progressive headaches. | MRI T2: Solid extradural hypointense lesion at C2 | Right sided hemilaminectomies at C1-C2, subtotal resection and right C2 nerve root decompression. | Discharged on day 14 postop with no neurological manifestations. MRI completed at 10-months postop revealed no recurrence. | Histological examination revealed amyloid deposits. | Not reported. | Not reported. |
Hayashi 2012 [20] | 75 | F | Progressive numbness in upper limbs, fine motor disturbances in fingers bilaterally, and gait disturbance. | MRI: Large hypointense circumferentially enhanced mass in the epidural space from C1-C3. | C2-C4 laminectomy and resection of the mass. | Patient gained increased strength and coordination in extremities, decreased numbness, and was fully ambulatory 2-months postop. | Positive Congo red stain with immune-histochemical testing indicating non-AA amyloid. | Not reported. | Not reported. |
Werner 2013 [21] | 77 | F | Worsening syncope and altered mental status, acute weight loss, gradual weakness in the upper and lower limbs bilaterally. | MRI: non enhancing mass at C1-C2 with erosive bony changes. | C1-C3 decompression with partial resection, followed by fusion from occiput-C5 using iliac bone graft. | At week 6, regained strength bilaterally in all extremities and became ambulatory. At 2-year follow-up reported intact strength, sensation, and ambulation without aids. | Congo red stained tissue featured yellow-green birefringence under polarized light. | Not reported. | Not reported. |
Nitta 2015 [22] | 66 | M | 1 week of reported dizziness, urinary retention, blunted sensation below the chest, and paraplegia 2-days prior. | MRI T1: Hypointense epidural mass at C7. | Laminectomy and tumor resection. | Paraplegia and urinary retention resolved acutely postoperatively with improved sensation. | Congo red positive tissue featured apple-green birefringence under polarized light. Immunostaining was positive for β2M amyloid. | No evidence of carpal tunnel. | Not reported. |
Smitherman 2015 [23] | 46 | F | Lower extremity paralysis, lower body hypoesthesia, and worsening bowel/bladder incontinence. | MRI T1: Intradural extramedullary enhancing lesion at C4-T4. | C4-T4 laminectomy, resection, and posterior spinal fusion | Unchanged neurological examination with no progression at 1-year follow-up. | Congo red stained positively and displayed apple green birefringence under polarized light. | Not reported. | Not reported. |
Shinkino 2016 [24] | 57 | M | Progressive neck pain, quadriplegia, and numbness of limbs. | MRI T2: C1-C2 hypointense mass | C2-C7 laminoplasty. | At 1-month follow-up, patient exhibited markedly improved symptoms compared to preoperative status. | Amyloid fibrils were densely enhanced with direct fast scarlet staining and showed green birefringence under polarized light. Immunohistochemistry demonstrated a positive finding for β2M. | Carpal tunnel surgery completed 9-years prior. | Thickened LF and PLL. |
Dalolio 2017 [25] | 63 | M | Acute urinary retention, sensory disturbances in all 4 limbs followed by severe tetraparesis. | MRI T2: intradural extramedullary enhancing lesion at C4-C7. | C4-C7 laminectomy and resection. Underwent Revision surgery consisting of laminoatherectomy at C5-C6 and C6-C7 levels and removal of the lesion. | Discharged day 10 with persistent paraplegia, urinary incontinence, and lower limb sensory deficits with slight improvement in preoperative neurologic symptoms. | Amyloid deposits were confirmed on histological examination. | Not reported. | Thickened LF. |
Rezania 2017 [26] | 86 | M | Progressive weakness, gait deterioration, falls, and urinary incontinence. | MRI T1: Peripherally enhanced extra-axial mass extending from the clivus to C2. | None, biopsy only. | Died due to complications from metastatic cancer one year later. | Mass spectrometry was performed on Congo red-positive areas which detected transthyretin-related (ATTR) amyloidosis. | Yes. | Yes. |
Schneider 2018 [27] | 84 | F | Progressive ataxia and dysphagia. | MRI: Non-enhancing soft-tissue mass from the retro-clivus to C2 posteriorly. | Endoscopic trans-nasal resection and posterior stabilization via arthrodesis from occiput-C5. | Discharged 2-weeks postop with improved neuro-motor exam. 2-year follow-up revealed complete resolution of the mass. | Positive Congo red stain and apple green birefringence to polarized light. Presumed AA, negative for kappa and lambda AL. | Not reported. | Not reported. |
Rotter 2019 [28] | 58 | M | Neck pain radiating to left arm, bilateral upper limb weakness over several months. | MRI T2: hypointense, contrast-enhancing mass at C1-C2. | C2 laminectomy and gross total resection. | One-month postop assessment revealed improved strength in upper and lower extremities. | Congo red showed green birefringence under cross-polarized light. Liquid chromatography tandem mass spectrometry detected an AL-kappa amyloid peptide profile. | Not reported. | Not reported. |
Giorgi 2021 [29] | 57 | F | Progressive loss of upper and lower limb strength and sensitivity in addition to headaches. | MRI: Hypointense solid mass at C1-C2. | C1 laminectomy, followed by occiput-C5 fixation. | Neurological deficits improved immediately after surgery; 1-year follow-up revealed no signs of myelopathy progression. | Positive Congo red reaction and were positive for β2M immunostaining. | Not reported. | Not reported. |