Primary cervical spine AL‐κ amyloidoma: A case report and review of the literature

Abstract

Of the myriad of variants of amyloidoses where abnormally folded proteins damage native tissue, primary cervical spine amyloidoma represents one of the rarest forms. Since clinical presentations and imaging findings appear similar to other pathologies, including abscesses, metastatic lesions, and inflammatory lesions, a definitive diagnosis requires a biopsy with specific immunohistochemical stains. We present the first known case of primary cervical amyloid light‐chain (AL)‐κ subtype amyloidoma and compare the clinical presentations, imaging findings, treatment options, and immunohistochemical subtypes of primary, hemodialysis, and multiple myeloma cervical amyloidomas. Our case is of a 58‐year‐old man who developed neck pain radiating to the left arm with bilateral upper extremity weakness over several months. Magnetic resonance imaging revealed a circumferential C1–C2 mass extending into the neural foramina inducing severe mass effect. The patient underwent C2 laminectomy and resection of the lesion which was discovered during surgery to be completely epidural. Postoperatively, his pain and weakness improved. A complete work‐up was negative for systemic amyloidosis or inflammatory conditions. In the setting of a long clinical history of hemodialysis, this patient required specific staining and laboratory testing to correctly diagnose his primary cervical AL‐κ subtype amyloidoma. Cervical amyloidomas comprise a very small minority of amyloid pathology with an exceptional prognosis following successful surgical resection and stabilization. It is recommended these patients undergo surgical resection with appropriate characterization and a complete work‐up to rule out systemic disease.

Cervical amyloidoma of transthyretin type: a case report and review of literature

“…Common physical exam findings include objective weakness, paralysis, and hyperreflexia [21]. MRI imaging often reveals hypointense structures on T1 and T2 images and mostly occupies the epidural space and bone at the C1, C2, C6 and C7 levels [2,21]. These findings were concurrent with our case and with what has been previously reported in ATTR-specific cases.…”

“…Presently, there are 40 known human amyloid fibril proteins, most of which are exceedingly rare [3]. Of the known proteins, commonly reported amyloidoma types include immunoglobin light chain (AL), serum amyloid A (AA), and β2-microglobulin (Aβ2M); less commonly is the transthyretin type [21,28]. Most often, reported cases are attributed to either AL or Aβ2M types [2,21].…”

“…Previous research has shown that presenting symptoms of cervical amyloidoma most often includes pain, discomfort, subjective weakness, or sensory disturbances. Common physical exam findings include objective weakness, paralysis, and hyperreflexia [21]. MRI imaging often reveals hypointense structures on T1 and T2 images and mostly occupies the epidural space and bone at the C1, C2, C6 and C7 levels [2,21].…”

Spinal Amiloydoma Mimic an Intradural Neoplasm. Case report and literature analysis.

“…In 1863 Rudolf Virchow observed abnormal deposits of a substance he called "amyloid." This disease has systemic (the most frequent) and localized forms (unusual intracellular or extracellular deposits) [5]. Among the clinical manifestations of amyloidosis, the most frequent is renal, with patients with renal insufficiency.…”

“…On the other hand, destructive spondyloarthropathy has been reported in patients with amyloidosis secondary to renal dialysis, which causes amyloid deposits in the joints, intervertebral discs, ligaments and vertebral bodies ales with the consequent myelopathy or radiculopathy [7]. In 2015 Liu et al [8] reported a case with circumferential intrathecal ossification secondary to oculoleptomeningeal amyloidosis and as recently as 2019 2019 Rotter et al [5]. reported the first case of focal intradural primary amyloidoma of the cervical spine.…”