Multifocal Deposits of Amyloidoma in the Upper Airway Accompanied by deposits in the Cervical Nodes with Recurrences

Case Report 

Multifocal Deposits of Amyloidoma in the Upper Airway Accompanied by deposits in the Cervical Nodes with Recurrences

Corresponding author Dr. M Suzuki, Department of Otolaryngology, Teikyo University Chiba Medical Center, 3426-3 Anesaki, Ichihara, Chiba 299-0111, Japan, Tel: +81-436-62-1211 ext. 5340; Fax: +81-436-61-8474; Email:suzukima@med.teikyo-u.ac.jp

Abstract

A 55-year-old man was referred to us for investigation of his dysphagia. Endoscopic examination revealed a smooth, firm, pink-yellowish, giant swelling of the epiglottis, with small nodules in the left nasal cavity, nasopharynx, and uvula. A right cervical node was slightly prominent on palpation. CT scan revealed a well-defined, homogeneous mass containing calcification spots and no enhancement on contrast-enhanced scans. Based on histologic examination, the definitive diagnosis was amyloid light chain amyloidosis. Endoscopic surgery and cervical excision of amyloidoma was performed. However, two recurrences of amyloidoma occurred after the surgeries during a period of 18 years. The patient showed no evidence of systemic amyloidosis. Multiple deposits are occasionally seen in localized amyloidoma in the upper airway, but their presence along with deposits in the lymph nodes, especially in the neck, is rare. This is the first report of recurrent amyloidoma with multifocal deposits in the upper airway and cervical lymph nodes.
Keywords: Amyloidoma; Epiglottis; Upper Airway; Cervical Node; Recurrence

Amyloidosis is a rare disease that is characterized morphologically by deposition of amyloid in different organs and results in a wide range of clinical manifestations. The localized form of amyloidosis without evidence of a systemic immune abnormality or chronic disease is categorized as amyloidoma. Typically, only one anatomic site, for example, the lung, larynx, skin, or bladder, is affected, and multiple deposits are rare [1,2]. Furthermore, their presence along with deposits in the lymph nodes, especially those in the neck, is particularly rare [3]. We encountered a case of giant amyloidoma of the epiglottis with multifocal deposits in the upper airway and cervical nodes showing recurrences.Case Report

A 55-year-old Japanese man with a 6-month history of dysphagia was referred to our ENT outpatient clinic from a general hospital. He had no hoarseness, stridor, dyspnea, or hemoptysis. He had slight dysarthria. The family and medical history were unremarkable. Flexible endoscopic examination revealed a smooth, firm, pink-yellowish, giant swelling of the epiglottis measuring approximately 30 mm in diameter (Figure 1).  Small nodules in the left nasal cavity, nasopharynx, and uvula with similar appearances were also observed. There were no abnormal findings in the vocal cords, false cords, ventricle, vallecula, and subglottic area. However, a right cervical node was slightly prominent on palpation. Physical examination revealed no other lymph node enlargement in his body. A CT scan
revealed a well-defined, homogeneous mass arising in the epiglottis without extension into the neighboring tissues such as the tongue base or aryepiglottic folds. These masses showed no enhancement on contrast-enhanced scans and contained calcification spots suggesting a benign tumor.
Figure 1. Endoscopic appearance of amyloidosis of the epiglottis.

MRI, performed on a superconductive 0.5-T imager, also showed a homogeneous mass of the epiglottis that was isointense compared with the surrounding neck muscles on T1 images (Figure 2a–c).

a: CT
b: MRI T1


c: MRI T2Figure 2. Amyloidosis in the epiglottis and right cervical node.Immunostaining with antibodies to kappa and lambda light chains was performed on the biopsied tissue taken from the epiglottis. Based on the histologic examination, the definitive diagnosis was amyloid light chain (AL) amyloidosis (Figure 3a, b) [4].

a: Hematoxylin and eosin staining (×20): The tissue had a normal epithelium, under which were collections of homogenous, lightly-stained pink material separated by compressed connective tissue.

b: Congo red staining (×400): Amorphous, patternless amyloid deposits in the submucosal connective tissue displaying an apple-green color with polarized light.

Figure 3. Pathological specimen of the amyloid lesion of the epiglottis.

Thoracic-abdominal-pelvic CT scan, medical, laboratory, and neurophysiological evaluations were performed for this patient. No history and clinical evidence of inflammatory, renal, or cardiac disease had been detected. Blood count, hemogram with differential, serum chemistries, serum electrophoresis, and rectal biopsy were performed, and results were negative for an immune abnormality, systemic amyloid deposition, and multiple myeloma. There was no evidence of immunoglobulin M protein in the serum electrophoresis or Bence-Jones protein in urinalysis. Thus, this patient was considered to have localized type AL amyloidosis, namely, amyloidoma.

Endoscopic surgery was performed for the epiglottic and nasal amyloid with YAG laser. The uvula and nasopharyngeal amyloidosis was subjected to transoral resection, and the cervical amyloid was also excised surgically under general anesthesia. Eight years after the first operation, recurrence of amyloidosis occurred in the right cervical nodes and parapharyngeal space. Resection of the parapharyngeal amyloidosis and neck dissection was performed but recurrence was seen in the nasopharynx and bilateral parapharyngeal space 5 years after the second operation. The patient has been carefully observed for 5 years since the second recurrence of amyloidosis, but no significant progression of amyloidosis was observed. Systemic amyloidosis has not developed in the past 18 years and the patient remains in good health.

Discussion

Classification of amyloidosis

Amyloid refers to the presence of an insoluble precursor protein deposit in organs where it should not be, and the amyloidosis refers to the disease caused by disruption of tissue structure and function by amyloid deposits. The causes of the systemic forms of hereditary amyloidosis are related to mutations in the amyloid precursor proteins [5]. The amyloidosis classification most often used is based on the nature of the amyloid fibril protein [5]. The number of amyloid fibril proteins and related disorders in humans has increased recently. Type AL amyloid consists of immunoglobulin κ or λ monoclonal light chains. Type λ is more common than type κ. Type AA is derived from serum amyloid A protein, which is a product of acute inflammation, and occurs secondary to autoimmune or inflammatory disorders such as rheumatoid arthritis, familial periodic fever syndrome, and so on. Transthyretin (TTR) is a representative amyloidogenic protein in humans. The main  phenotypes of hereditary transthyretin amyloidosis (ATTR) are familial amyloid polyneuropathy, familial amyloid cardiomyopathy, and familial leptomeningeal amyloidosis [5,6]. Wild-type ATTR deposition leads to acquired amyloid disease, formerly known as senile systemic amyloidosis [5,6].

Localized AL amyloidosis

Localized type AL amyloidosis, amyloidoma, is characterized by the focal deposition of amyloid that does not evolve intosystemic amyloidosis. Amyloid proteins deposit usually presentas s+olitary lesions in the heart, kidney, liver, and gastrointestinaltract, and are not formed focally. Those in the upperaerodigestive tract have been described in a variety of sitessuch as the nose, nasopharynx, tongue, tracheobronchial tree,and larynx [1,2]. Those in the larynx usually involve the vocalcords, false vocal cords, ventricle or vallecula, but epiglotticamyloid deposits are rare [7-9]. Tongue and thyroid amyloidosisare occasionally associated with systemic amyloidosis typeAL and type AA, respectively. Other amyloidoma in the upperaerodigestive tract is usually not associated with systemic amyloidosis,however, they could lead to systemic amyloidosis.Amyloidoma in the upper aerodigestive tract rarely occurs as multiple deposits [1,2] and rarely as deposits in the lymph nodes, especially the cervical lymph nodes [3]. Occurrence in the neck could be systemic amyloidosis. At the first medical examination, we thought the patient might have malignant lymphoma. He had multiple deposits in the nasal cavity,  nasopharynx, uvula, epiglottis, and cervical node, and in the parapharyngeal space afterwards. Recently, Hazenberg et al. showed that laryngeal symptoms may be the presenting feature of hereditary systemic Apoprotein A1 (ApoA1) amyloidosis in patients with localized laryngeal amyloidosis [10]. Comprehensive investigations such as TTR, ApoA1 genotyping, and immunohistochemical investigation using antibodies to TTR, ATTR, or wild-type TTR could become more important for the diagnosis and treatment of amyloidosis, even in cases without evidence of systemic disease [5,6].

A limitation of this case report is that the sensitivity of plasma protein electrophoresis and immunofixation might be imperfect and serum amyloid P scintigraphy and whole body PET-CT could not be performed at disease onset in this patient in 1997. This patient is still under follow-up.

To the best of our knowledge, no case of multiple amyloidoma in the upper airway accompanied by deposits in the cervical nodes with recurrences has been reported.

Disclosure Statement

The authors declare that there is no conflict of interest regarding the publication of this paper.

References

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