Aneurysmal bone cyst

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Aneurysmal bone cyst
Other namesNot recommended: Giant cell reparative granuloma of small bone, giant cell lesion of small bones [1]
Cisti aneurismatica.jpg
A. X-ray: osteolytic lesion in tibia near knee. B/C/D/E. MRI with E showing fluid levels.
Specialty Orthopedics [1]
Symptoms Pain, swelling, pressure related neurological symptoms [1]
CausesUnknown [1]
Diagnostic method Medical imaging: CT scan, X-ray, MRI, bone scan. [1]
Differential diagnosis Telangiectatic osteosarcoma [1]
TreatmentSurgery [2]
Prognosis 20-70% recur after curettage. [1]
FrequencyRare, [3] ~0.15 cases per one million per year. [1] 80% age <20 years. [1] M=F [1]

Aneurysmal bone cyst (ABC) is a non-cancerous bone tumor composed of multiple varying sizes of spaces in a bone which are filled with blood. [1] [4] The term is a misnomer, as the lesion is neither an aneurysm nor a cyst. [5] It generally presents with pain and swelling in the affected bone. [1] Pressure on neighbouring tissues may cause compression effects such as neurological symptoms. [1]

Contents

The cause is unknown. [1] Diagnosis involves medical imaging. [1] CT scan and X-ray show lytic expansion lesions with clear borders. [1] MRI reveals fluid levels. [1]

Treatment is usually by curettage, bone grafting or surgically removing the part of bone. [2] 20–30% may recur, usually in the first couple of years after treatment, particularly in children. [2]

It is rare. [3] The incidence is around 0.15 cases per one million per year. [1] Aneurysmal bone cyst was first described by Jaffe and Lichtenstein in 1942. [5] [6]

Signs and symptoms

The afflicted may have relatively small amounts of pain that will quickly increase in severity over a time period of 6–12 weeks. The skin temperature around the bone may increase, a bony swelling may be evident, and movement may be restricted in adjacent joints. [7]

Spinal lesions may cause quadriplegia and patients with skull lesions may have headaches.[ citation needed ]

Sites

Commonly affected sites are metaphyses of vertebra, flat bones, femur and tibia. [8] Approximate percentages by sites are as shown:[ citation needed ]

Causes

Aneurysmal bone cyst has been widely regarded a reactive process of uncertain cause since its initial description by Jaffe and Lichtenstein in 1942. Many hypotheses have been proposed to explain the cause and pathogenesis of aneurysmal bone cyst, and until very recently the most commonly accepted idea was that aneurysmal bone cyst was the consequence of an increased venous pressure and resultant dilation and rupture of the local vascular network. However, studies by Panoutsakopoulus et al. and Oliveira et al. uncovered the clonal neoplastic nature of aneurysmal bone cyst. Primary cause has been regarded arteriovenous fistula within bone. [9]

The lesion may arise de novo or may arise secondarily within a pre-existing bone tumor, because the abnormal bone causes changes in hemodynamics. An aneurysmal bone cyst can arise from a pre-existing chondroblastoma, a chondromyxoid fibroma, an osteoblastoma, a giant cell tumor, or fibrous dysplasia. A giant cell tumor is the most common cause, occurring in 19–39% of cases. Less frequently, it results from some malignant tumors, such as osteosarcoma, chondrosarcoma, and hemangioendothelioma.[ citation needed ]

Pathology

Micrograph of an aneurysmal bone cyst. H&E stain. Aneurysmal bone cyst - very high mag.jpg
Micrograph of an aneurysmal bone cyst. H&E stain.

Histologically, they are classified in two variants.[ citation needed ]

According to Buraczewski and Dabska, the development of the aneurysmal bone cyst follows three stages. [5]

StageDescription
Initial phase (I) Osteolysis without peculiar findings
Growth phase (II)
  • Rapid increase in size of osseous erosion
  • Enlargement of involved bone
  • Formation of shell around central part of lesion
Stabilization phase (III)Fully developed radiological pattern

They can also be associated with a TRE17/ USP6 translocation. [10]

Aneurysmal bone cysts may be intraosseous, staying inside of the bone marrow. Or they may be extraosseous, developing on the surface of the bone, and extending into the marrow. A radiograph will reveal a soap bubble appearance.[ citation needed ]

Diagnosis

X-ray and CT scan show lytic expansion lesions with clear borders. [1] Expansion of cortex gives the lesion a balloon-like appearance. Larger lesions may appear septated. [11] MRI reveals fluid levels. [1] Bone scan shows outer radiotracer uptake, with a central dark area. [1] [11]

Differential diagnosis

Following conditions are excluded before diagnosis can be confirmed: [12]

Treatment

Curettage is performed on some people, [13] and is sufficient for inactive lesions. The recurrence rate with curettage is significant in active lesions, and marginal resection has been advised. Liquid nitrogen, phenol, methyl methacrylate are considered for use to kill cells at margins of resected cyst. [9]

Prognosis

20–70% recur after curettage. [1]

Epidemiology

It is rare. [3] The incidence is around 0.15 cases per one million per year. [1] 80% occur in people age less than 20 years. [1] It is second most common tumor of spine and most common benign tumor of pelvis in pediatric population. [9] Males and females are equally affected. [1]

Additional images

See also

Related Research Articles

<span class="mw-page-title-main">Bone tumor</span> Abnormal growth of tissue within bone

A bone tumor is an abnormal growth of tissue in bone, traditionally classified as noncancerous (benign) or cancerous (malignant). Cancerous bone tumors usually originate from a cancer in another part of the body such as from lung, breast, thyroid, kidney and prostate. There may be a lump, pain, or neurological signs from pressure. A bone tumor might present with a pathologic fracture. Other symptoms may include fatigue, fever, weight loss, anemia and nausea. Sometimes there are no symptoms and the tumour is found when investigating another problem.

<span class="mw-page-title-main">Osteosarcoma</span> Cancerous tumour in a bone

An osteosarcoma (OS) or osteogenic sarcoma (OGS) is a cancerous tumor in a bone. Specifically, it is an aggressive malignant neoplasm that arises from primitive transformed cells of mesenchymal origin and that exhibits osteoblastic differentiation and produces malignant osteoid.

<span class="mw-page-title-main">Sex cord–gonadal stromal tumour</span> Medical condition

Sex cord–gonadal stromal tumour is a group of tumours derived from the stromal component of the ovary and testis, which comprises the granulosa, thecal cells and fibrocytes. In contrast, the epithelial cells originate from the outer epithelial lining surrounding the gonad while the germ cell tumors arise from the precursor cells of the gametes, hence the name germ cell. In humans, this group accounts for 8% of ovarian cancers and under 5% of testicular cancers. Their diagnosis is histological: only a biopsy of the tumour can make an exact diagnosis. They are often suspected of being malignant prior to operation, being solid ovarian tumours that tend to occur most commonly in post menopausal women.

<span class="mw-page-title-main">Metaphysis</span> Neck portion of a long bone between the epiphysis and the diaphysis

The metaphysis is the neck portion of a long bone between the epiphysis and the diaphysis. It contains the growth plate, the part of the bone that grows during childhood, and as it grows it ossifies near the diaphysis and the epiphyses. The metaphysis contains a diverse population of cells including mesenchymal stem cells, which give rise to bone and fat cells, as well as hematopoietic stem cells which give rise to a variety of blood cells as well as bone-destroying cells called osteoclasts. Thus the metaphysis contains a highly metabolic set of tissues including trabecular (spongy) bone, blood vessels, as well as marrow adipose tissue (MAT).

<span class="mw-page-title-main">Benign tumor</span> Mass of cells which cannot spread throughout the body

A benign tumor is a mass of cells (tumor) that does not invade neighboring tissue or metastasize. Compared to malignant (cancerous) tumors, benign tumors generally have a slower growth rate. Benign tumors have relatively well differentiated cells. They are often surrounded by an outer surface or stay contained within the epithelium. Common examples of benign tumors include moles and uterine fibroids.

<span class="mw-page-title-main">Ameloblastoma</span> Medical condition

Ameloblastoma is a rare, benign or cancerous tumor of odontogenic epithelium much more commonly appearing in the lower jaw than the upper jaw. It was recognized in 1827 by Cusack. This type of odontogenic neoplasm was designated as an adamantinoma in 1885 by the French physician Louis-Charles Malassez. It was finally renamed to the modern name ameloblastoma in 1930 by Ivey and Churchill.

<span class="mw-page-title-main">Enchondroma</span> Benign bone tumor composed of cartilage

Enchondroma is a type of benign bone tumor belonging to the group of cartilage tumors. There may be no symptoms, or it may present typically in the short tubular bones of the hands with a swelling, pain or pathological fracture.

<span class="mw-page-title-main">Giant-cell tumor of bone</span> Bone tumor composed of agglomerated osteoclast-like cells

Giant-cell tumor of the bone (GCTOB), is a relatively uncommon bone tumor. It is characterized by the presence of multinucleated giant cells. Malignancy in giant-cell tumor is uncommon and occurs in about 2% of all cases. However, if malignant degeneration does occur, it is likely to metastasize to the lungs. Giant-cell tumors are normally benign, with unpredictable behavior.

<span class="mw-page-title-main">Warthin's tumor</span> Medical condition

Warthin's tumor, also known as papillary cystadenoma lymphomatosum, is a benign cystic tumor of the salivary glands containing abundant lymphocytes and germinal centers. It is named for pathologist Aldred Scott Warthin, who described two cases in 1929.

<span class="mw-page-title-main">Nodular fasciitis</span> Medical condition

Nodular fasciitis (NF) is a benign, soft tissue tumor composed of myofibroblasts that typically occurs in subcutaneous tissue, fascia, and/or muscles. The literature sometimes titles rare NF variants according to their tissue locations. The most frequently used and important of these are cranial fasciitis and intravascular fasciitis. In 2020, the World Health Organization classified nodular fasciitis as in the category of benign fibroblastic/myofibroblastic tumors. NF is the most common of the benign fibroblastic proliferative tumors of soft tissue.

<span class="mw-page-title-main">Central giant-cell granuloma</span> Medical condition

Central giant-cell granuloma (CGCG) is a localised benign condition of the jaws. It is twice as common in females and is more likely to occur before age 30. Central giant-cell granulomas are more common in the anterior mandible, often crossing the midline and causing painless swellings.

<span class="mw-page-title-main">Odontogenic keratocyst</span> Medical condition

An odontogenic keratocyst is a rare and benign but locally aggressive developmental cyst. It most often affects the posterior mandible and most commonly presents in the third decade of life. Odontogenic keratocysts make up around 19% of jaw cysts. Despite its more common appearance in the bone region, it can affect soft tissue.

<span class="mw-page-title-main">Chondroblastoma</span> Benign cartilage tumor on the ends of long bones

Chondroblastoma is a rare, benign, locally aggressive bone tumor that typically affects the epiphyses or apophyses of long bones. It is thought to arise from an outgrowth of immature cartilage cells (chondroblasts) from secondary ossification centers, originating from the epiphyseal plate or some remnant of it.

<span class="mw-page-title-main">Osteoblastoma</span> Medical condition

Osteoblastoma is an uncommon osteoid tissue-forming primary neoplasm of the bone.

<span class="mw-page-title-main">Osteoid osteoma</span> Medical condition

An osteoid osteoma is a benign (non-cancerous) bone tumor that arises from osteoblasts and some components of osteoclasts. It was originally thought to be a smaller version of an osteoblastoma. Osteoid osteomas tend to be less than 1.5 cm in size. The tumor can be in any bone in the body but are most common in long bones, such as the femur and tibia. They account for 10 to 12 percent of all benign bone tumors and 2 to 3 percent of all abnormal bone growths. Osteoid osteomas may occur at any age, and are most common in patients between the ages of 4 and 25 years old. Males are affected approximately three times more commonly than females.

<span class="mw-page-title-main">USP6</span> Protein-coding gene in the species Homo sapiens

Ubiquitin carboxyl-terminal hydrolase 6 (USB6), also termed TRE17 and Tre-2, is a deubiquitinating enzyme that in humans is encoded by the hominid USP6 gene located at band 13.2 on the short arm of chromosome 17. Deubiquitinating enzymes (DUBs) are enzymes that act within cells to remove ubiquitins from various functionally important proteins. Ubiquitin enzymes add ubiquitin to these proteins and thereby regulate their cellular location, alter their activity, and/or promote their degradation. By deubiquitinating these proteins, DUBs counter the effects of the ubiquinating enzymes and contribute to regulating the actions of the targeted proteins. In normal adult tissues, USP6 is highly expressed in testicle tissue, modestly expressed in ovarian tissue, and absent or minimally expressed in other tissues. It is also highly expressed in fetal brain tissue. The specific functions of USP6 are poorly defined primarily because its presence is restricted to primates: there are no available animal models to determine the effects of its deletion, although some studies suggest that UPSP6 contributes to normal brain development. In all events, USP6 has gained wide interest because of its abnormally increased expression by the neoplastic cells in various tumors derived from mesenchymal tissue.

<span class="mw-page-title-main">Bone cyst</span> Medical condition

A bone cyst or geode is a cyst that forms in bone.

Cysts of the jaws are cysts—pathological epithelial-lined cavities filled with fluid or soft material—occurring on the bones of the jaws, the mandible and maxilla. Those are the bones with the highest prevalence of cysts in the human body, due to the abundant amount of epithelial remnants that can be left in the bones of the jaws. The enamel of teeth is formed from ectoderm, and so remnants of epithelium can be left in the bone during odontogenesis. The bones of the jaws develop from embryologic processes which fuse, and ectodermal tissue may be trapped along the lines of this fusion. This "resting" epithelium is usually dormant or undergoes atrophy, but, when stimulated, may form a cyst. The reasons why resting epithelium may proliferate and undergo cystic transformation are generally unknown, but inflammation is thought to be a major factor. The high prevalence of tooth impactions and dental infections that occur in the bones of the jaws is also significant to explain why cysts are more common at these sites.

<span class="mw-page-title-main">Unicameral bone cyst</span> Medical condition

A unicameral bone cyst, also known as a simple bone cyst, is a cavity filled with a yellow-colored fluid. It is considered to be benign since it does not spread beyond the bone. Unicameral bone cysts can be classified into two categories: active and latent. An active cyst is adjacent to the epiphyseal plate and tends to grow until it fills the entire diaphysis, the shaft, of the bone; depending on the invasiveness of the cyst, it can cause a pathological fracture or even destroy the epiphyseal plate leading to the permanent shortening of the bone.

<span class="mw-page-title-main">Proliferative fasciitis and proliferative myositis</span> Medical condition

Proliferative fasciitis and proliferative myositis (PF/PM) are rare benign soft tissue lesions that increase in size over several weeks and often regress over the ensuing 1–3 months. The lesions in PF/PM are typically obvious tumors or swellings. Historically, many studies had grouped the two descriptive forms of PF/PM as similar disorders with the exception that proliferative fasciitis occurs in subcutaneous tissues while proliferative myositis occurs in muscle tissues. In 2020, the World Health Organization agreed with this view and defined these lesions as virtually identical disorders termed proliferative fasciitis/proliferative myositis or proliferative fasciitis and proliferative myositis. The Organization also classified them as one of the various forms of the fibroblastic and myofibroblastic tumors.

References

  1. 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 WHO Classification of Tumours Editorial Board, ed. (2020). "3. Bone tumours: simple bone cyst". Soft Tissue and Bone Tumours: WHO Classification of Tumours. Vol. 3 (5th ed.). Lyon (France): International Agency for Research on Cancer. pp. 437–439. ISBN   978-92-832-4503-2.
  2. 1 2 3 "Bone tumours. What are Bone Tumours?". patient.info. Archived from the original on 24 April 2021. Retrieved 24 April 2021.
  3. 1 2 3 Muratori, Francesco; Mondanelli, Nicola; Rizzo, Anna Rosa; Beltrami, Giovanni; Giannotti, Stefano; Capanna, Rodolfo; Campanacci, Domenico Andrea (10 November 2019). "Aneurysmal Bone Cyst: A Review of Management". Surgical Technology International. 35: 325–335. ISSN   1090-3941. PMID   31476792.
  4. Stevens, Kyle J.; Stevens, James A. (5 September 2020). "Aneurysmal Bone Cysts". StatPearls. StatPearls Publishing.
  5. 1 2 3 Maroldi, Roberto (2005). Imaging in Treatment Planning for Sinonasal Diseases. Springer. pp. 114–116. ISBN   9783540266310.
  6. Tomasik, Patryk; Spindel, Jerzy; Miszczyk, Leszek; Chrobok, Adam; Koczy, Bogdan; Widuchowski, Jerzy; Mrozek, Tomasz; Matysiakiewicz, Jacek; Pilecki, Bolesław (September 2009). "Treatment and differential diagnosis of aneurysmal bone cyst based on our own experience". Ortopedia, Traumatologia, Rehabilitacja. 11 (5): 467–475. ISSN   1509-3492. PMID   19920289.
  7. Zadik, Yehuda; Aktaş Alper; Drucker Scott; Nitzan W Dorrit (2012). "Aneurysmal bone cyst of mandibular condyle: A case report and review of the literature". J Craniomaxillofac Surg. 40 (8): e243–8. doi:10.1016/j.jcms.2011.10.026. PMID   22118925.
  8. Rosai and Ackerman's surgical pathology, Volume 2, 9th ed. Mosby. 2004. p. 148. ISBN   9780323013420.
  9. 1 2 3 Pediatric Orthopedics in Practice. Springer. 2007. pp. 151–155. ISBN   9783540699644.
  10. Ye Y, Pringle LM, Lau AW, et al. (June 2010). "TRE17/USP6 oncogene translocated in aneurysmal bone cyst induces matrix metalloproteinase production via activation of NF-kappaB". Oncogene. 29 (25): 3619–29. doi:10.1038/onc.2010.116. PMC   2892027 . PMID   20418905.
  11. 1 2 Davies, Arthur (2002). Who Manual Of Diagnostic Imaging: Radiographic Anatomy And Interpretation Of The Muskuloskeletal System, VOlume. World Health Organization. pp. 168–186. ISBN   9241545550.
  12. Differential Diagnosis in Surgical Pathology: Expert Consult - Online and Print, 2e. Elsevier Health Sciences. 2010. pp. 878–879. ISBN   9781416045809.
  13. Mankin HJ, Hornicek FJ, Ortiz-Cruz E, Villafuerte J, Gebhardt MC (September 2005). "Aneurysmal bone cyst: a review of 150 patients". J. Clin. Oncol. 23 (27): 6756–62. doi: 10.1200/JCO.2005.15.255 . PMID   16170183. Archived from the original on 2013-04-15.