Elastofibroma: Background, Pathophysiology, Etiology

Sections

Overview

Background

Elastofibroma is a rare, benign, slow-growing connective-tissue tumor that occurs most often in the subscapular area in elderly women. Jarvi and Saxen^[1]first described this rare entity, elastofibroma, in 1961. Elastofibroma is characterized by accumulated abnormal elastic fibers and is generally regarded as a reactive process, an unusual fibroblastic pseudotumor.^[2]

Pathophysiology

The etiology of elastofibroma remains unclear, although prevalence is increased in persons who perform manual labor involving the shoulder girdle. Thus, repeated trauma due to mechanical friction of the scapula against the ribs has been suggested to induce this process. This theory provides an explanation for the right-sided preponderance; however, in up to 66% of cases, the tumor is bilateral. Rarely, elastofibromas may be multiple in the same individual.^{[3, 4]}In up to one third of cases, the patient has a family history of the tumor, suggesting a nontraumatic genetic origin. A mechanical strain-dependent reactivation of periostin and tenascin-C expression, along with elastin deposition, may account for the pathogenesis of their neoplasms.^[5]

Elastofibroma may be a reactive process; its etiology remains unknown.^[6]In a 2002 study, chromosomal gains were suggested as a cause for elastofibromas. Nishio et al^[7]detected DNA copy number changes involving 1 or 2 chromosomes in 33% of 27 patients. The most common recurrent gains were at bands Xq12-q22 and 19. High-level amplifications and recurrent losses were not observed. No correlation was found between DNA copy number changes and elastofibroma size. It was concluded that these chromosomal regions may contain genes involved in the development of at least some elastofibromas. Genomic alterations were documented in 2 cases, with losses detected on 1p, 13q, 19p, and 22q by array-based comparative genomic hybridization (aCGH).^[6]

Coexistence of an elastofibroma with a high-grade spindle cell sarcoma^[8]and a high-grade leiomyosarcoma^[9]has been reported. Moreover, because a number of other entities, including lipomas, metastases, sarcomas, and extra-abdominal fibromatoses and hemangiomas, may occur on the back and in the subscapular site, the diagnosis must be confirmed with biopsy.

Cytogenetic chromosomal instability and some recurrent or clonal chromosomal changes have raised the possibility that the lesion represents a neoplastic process.^[2]Recent findings suggest that CD34-positive mesenchymal cells are an integral component of elastofibroma, presumably representing a clonal fibrous proliferation.^[10]

Etiology

The histogenesis of the morphologically unique elastic fibers is controversial. Note particularly that the elastinophilic structure may result from elastotic degeneration of collagen. Recent immunohistochemical, ultrastructural, and biochemical investigations have shown that the elastinophilic material is composed of elastic fibers with only a slight difference in the amino acid composition. This elastic material possibly derives from an abnormal process of elastogenesis rather than representing degenerative changes in collagen or elastic fibers themselves.

Frequency

Elastofibromas are rare. Elastofibromas are often mistaken for malignant tumors because of their size and location deep to the periscapular muscles. An orthopedic oncology database of 17,500 patients showed 15 patients with elastofibroma dorsi, 12 men and 3 women, with a mean age at diagnosis of 68.4 years and a range of 51-79 years.^[11]

In another study, 1,751 patients were evaluated with (18)fludeoxyglucose (FDG) – positron emission tomography (PET)/CT scanning, which detected 29 cases of elastofibroma dorsi as an incidental finding, giving a prevalence of 1.66%.^[12]

Sex

Of persons affected by elastofibromas, 93% are female.

Age

Elastofibromas occur most often in elderly women but have been reported in persons aged 35-94 years.

Prognosis

Mortality rates are unknown for elastofibroma. Morbidity is not expected.

Clinical Presentation

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Olchowy C, de Delás-Vigo MA, Perez M, Ciriaco N, Oronoz RD. Triple elastofibromas located in the supra- and infrascapular regions-a case report. Skeletal Radiol. 2018 Apr. 47 (4):569-573. [Medline].
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Hernandez JL, Rodriguez-Parets JO, Valero JM, et al. High-resolution genome-wide analysis of chromosomal alterations in elastofibroma. Virchows Arch. 2010 Apr 27. [Medline].
Nishio JN, Iwasaki H, Ohjimi Y, et al. Gain of Xq detected by comparative genomic hybridization in elastofibroma. Int J Mol Med. 2002 Sep. 10(3):277-80. [Medline].
Alberghini M, Bacchini P, Pignatti G, et al. Histochemical and ultrastructural study of an elastofibroma dorsi coexisting with a high grade spindle cell sarcoma. Eur J Histochem. 2004 Apr-Jun. 48(2):173-8. [Medline].
Alberghini M, Pignatti G, Zanella L, et al. Elastofibroma associated with high grade leiomyosarcoma of the soft tissues: a light and ultrastructural study of one case. J Submicrosc Cytol Pathol. 2003 Jan. 35(1):43-8. [Medline].
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Media Gallery

Elastofibroma. Hematoxylin and eosin stain. Intermediate magnification. Courtesy of Soca1zim, via Wikimedia Commons.

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Elastofibroma

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