Primary Isolated Amyloidoma of Head and Neck: Case Reports and Literature Review

Case Report

Ann Hematol Oncol. 2019; 6(6): 1251.

Primary Isolated Amyloidoma of Head and Neck: Case Reports and Literature Review

Ciavarella S1*, Quinto AM1, Negri A1, Opinto G1, Sciacovelli AM1, Lotito MR2, Fedrigo M3, Castellani C3 and Guarini A1

1Hematology and Cell Therapy Unit, IRCCS - Istituto Tumori “Giovanni Paolo II”, Italy

2Radiology and Imaging Unit, IRCCS - Istituto Tumori “Giovanni Paolo II”, Italy

3Department of Cardiac Thoracic and Vascular Sciences, University of Padua, Italy

*Corresponding author: Ciavarella S, Hematology and Cell Therapy Unit, IRCCS – Istituto Tumori “G. Paolo II” Viale O. Flacco, 65 - 70125 - Bari, Italy

Received: March 06, 2019; Accepted: April 26, 2019;Published: May 03, 2019


Primary Isolated Amyloidomas (PIA) represent rare localized deposits of amyloid, which can occur at different body sites including the central nervous system and neck structures. Only single case reports and sporadic case series have described clinical, pathological and molecular features of head and neck PIA, which share some aspects concerning diagnostic methodologies, prognostic criteria and treatment strategies. Here, we describe two cases of PIA localized within brain and larynx, respectively, and analyze the diagnostic role of different clinical, imaging and histopathological examinations. Due to their rarity, the etiology and pathogenesis of head and neck PIA remain poorly understood, and our report aims at enriching and reviewing the literature in this specific field.

Keywords: Amyloidosis; Primary isolated amyloidoma; Head and neck amyloidoma

Case Presentation

The term “Primary Isolated Amyloidoma” (PIA) refers to a solitary amyloid-containing lesion that may localize at different sites, including musculoskeletal, respiratory, gastrointestinal systems and, rarely, head and neck compartment [1]. Classically, PIA is not accompanied neither by primary or secondary amyloid-producing systemic conditions as multiple myeloma or systemic amyloidosis, nor increased risk for their development.

Extracellular accumulation of insoluble, fibrillar polypeptides, namely amyloid, has the unique property of resisting to enzymatic digestion, facilitating continuous deposition within tissues. Although mostly composed by immunoglobulin-derived kappa or lambda chains, the etiology of PIA formation remains unknown. Even more little is known about head and neck PIA, which can involve brain, cranial nerves, spinal neural structures, nasopharynx, larynx, and parapharyngeal spaces [2]. Cerebral deposition of amyloid, for instance, may accompany many inflammatory or degenerative disorders of Central Nervous System (CNS) or simulate cerebral lymphomas, astrocytoma, and other inflammatory processes. Similarly, pharynx-laryngeal localization may simulate chronic inflammatory polyp or other indolent neo-formations. In absence of specific laboratory signs, these entities can be diagnosed only by accurate instrumental evaluation, including Magnetic Resonance Imaging (MRI), Computerized Tomography (CT) and, more recently, 18-Fluorodeoxyglucose (FDG)-based Positron-Emission Tomography/CT (PET/CT) as well as histomorphologic and immunochemical electron microscopy to identify the amyloid subtype [3]. However, based on their exceptional localization and anecdotal description, uncertainty exists about PIA management, especially for those with unusual head and neck localizations.

Here, we report two clinical cases of PIA with common biological features despite different localization within the head and neck region, and elucidate key aspects of diagnosis, prognosis and treatment.

Case 1

History: A 51-year old woman was admitted at our Center complaining a bilateral continuous tinnitus occurred many years before. She reported a recent episode of absence epilepsy with no additional neurological symptoms. She underwent neurological examination revealing no suggestive signs and was thus prescribed for neuroimaging with head CT and MRI. Blood cell count and serology screens (electrolytes, kidney and liver function tests, acute inflammatory protein dosage, serum and urine protein electrophoresis plus immunofixation, kappa/lambda light chain ratio, and beta2-microglobulin) resulted within normal ranges. A bone marrow biopsy showed no marrow infiltration by clonal plasma cells.

Imaging assessment: The non-contrast head CT revealed an irregular mass with apparent intra-axial extension and prevalent localization within the left temporal area. The lesion showed weak hyper-density and surrounded by moderate edema. Early mass effect and cerebral convolution flattening were also visible. Contrastenhanced MRI demonstrated the supratentorial, deep temporal lesion appearing hypo-intense on T2-weighted imaging and enhancing moderately with gadolinium (Figure 1A). Moreover, spectroscopy indicated a significant increase of choline peak and presence of lipids and lactates. The radiologic differential diagnosis ranged between lymphoproliferative disorders, malignant neoplastic primaries, secondary tumor localizations, and inflammatory granulomatosis processes. A total body CT excluded neoplastic primaries, systemic lymphadenopathy and other organ alterations. Based on these results, the patient underwent a wide surgical excision of the lesion (via left temporal craniotomy) with diagnostic purpose.