Clinical Imaging 39 (2015) 297–299
Contents lists available at ScienceDirect
Clinical Imaging journal homepage: http://www.clinicalimaging.org
Case Reports
Intracranial, intradural aneurysmal bone cyst Jalil Afnan a, Matija Snuderl b, Juan Small c,d,⁎ a
Department of Radiology, Lahey Hospital and Medical Center, 41 Mall Rd, Burlington, MA 01803 Department of Pathology, New York University Langone Medical Center and Medical School c Department of Neuroradiology, Lahey Hospital and Medical Center, 41 Mall Rd, Burlington, MA 01803 d Department of Neuroradiology, Massachusetts General Hospital, 55 Fruit St. GrB2, Boston, MA 02114 b
a r t i c l e
i n f o
Article history: Received 13 February 2014 Received in revised form 30 October 2014 Accepted 11 November 2014 Keywords: Aneurysmal bone cyst Intracranial Intradural Imaging Pathology
a b s t r a c t Aneurysmal bone cysts (ABCs) are benign, expansile, blood-filled, osteolytic lesions with internal septations that may be intraosseous or extraosseous. The cysts may cause local mass effect, and changes in the regional vascular supply necessitating intervention. A case of an intracranial, intradural ABC in a young male patient with progressively severe headaches is presented. This is only the third recorded intradural case, the majority of these rare lesions being extracranial and only a minute fraction intracranial. © 2015 Elsevier Inc. All rights reserved.
1. Introduction
3. Radiology
Aneurysmal bone cysts (ABCs) are benign, expansile, blood-filled, osteolytic lesions with internal septations that may be intraosseous or extraosseous [1]. The cysts may cause local mass effect, and changes in the regional vascular supply necessitating intervention. A case of an intracranial, intradural ABC in a young male patient with progressively severe headaches is presented. This is only the third recorded intradural case [2,3], the majority of these rare lesions being extracranial and only a minute fraction intracranial [4].
Computed tomography (CT) examination with and without contrast was obtained (Fig. 1). A comparison noncontrast CT from 2 years prior was normal in appearance (Fig. 1). The CT examination at the time of presentation demonstrated interval development of a right posterior temporal enhancing, multiloculated cystic mass with multiple layering hemorrhagic fluid levels. Magnetic resonance imaging (MRI) examination of the brain, with and without contrast confirmed an enhancing, multiloculated, cystic mass with layering hemorrhagic fluid levels and without associated restricted diffusion (Fig. 2).
2. Case report
4. Surgery
A 1-month history of pounding right posterior temporal headaches and generalized fatigue was documented in a 17-year-old male patient, whose medical history was significant for attention-deficit/hyperactivity disorder and thought disorder. Medications at the time of presentation included Aripiprazole (20 mg qhs) and Sertraline (100 mg qam). On examination, there was no focal neurologic deficit. Fine motor function and sensation were preserved. The patient was alert and lucid, without history of trauma or seizures. No palpable mass or scalp tenderness elicited.
A right posterior temporal craniotomy, with volumetric stereotactic guidance, was performed and elevated intracranial pressure demonstrated by dural tension on initial exposure. A dark, multicystic, hypervascular mass with dense attachments to the tentorium and in close apposition to the transverse sinus was identified once the dura was incised and reflected. The vascular supply was sequentially interrupted and the lesion was excised in one piece. Intraoperative frozen section analysis was not conclusive. 5. Histopathology
⁎ Corresponding author. Department of Neuroradiology, Lahey Hospital and Medical Center, 41 Mall Rd, Burlington, MA 01803. Tel.: + 1-781-744-8171; fax: + 1-781744-5232. E-mail address: [email protected] (J. Small). http://dx.doi.org/10.1016/j.clinimag.2014.11.004 0899-7071/© 2015 Elsevier Inc. All rights reserved.
Pathology examination showed a well-demarcated mass with numerous cystic spaces of variable size. Spaces were filled with blood and separated by fibrous septa, which were alternating with more solid areas (Fig. 3A and B). Fibrous septa were lined by fibroblasts and
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J. Afnan et al. / Clinical Imaging 39 (2015) 297–299
Fig. 1. (A) Normal noncontrast CT from 2 years prior to presentation. (B–D) Axial precontrast and postcontrast axial and coronal images at the time of presentation demonstrate interval development of a right posterior temporal enhancing, multiloculated cystic mass with multiple layering hemorrhagic fluid levels.
myofibroblasts (Fig. 3C) but there was no endothelium that was confirmed by negative CD34, CD31, and D2-40 immunohistochemical stain. Stromal cells were composed of spindle cells, scattered osteoclast-like multinucleated giant cells, which were positive for CD68, reactive woven bone, and some degenerated fibromyxoid tissue with calcifications (Fig. 3D). CD68 macrophages likely infiltrate the stroma as a result of the microhemorrhages. Although mitotic figures were present, the lesion lacked cellular atypia, necrosis, or malignant osteoid. Molecular cytogenetic analysis for USP6 rearrangement was negative. USP6 rearrangement involving 17p13 and most commonly fusing with CDH11 located on 16q21 can be helpful in diagnosis of ABC to help distinguish it from mimickers such as giant cell tumor, hemangioma, or osteosarcoma; however, 30–35% of ABCs lack the USP6 [5], and therefore, molecular findings must be interpreted together with morphology.
6. Discussion ABCs were first described in a small case series in 1942 by Jaffe and Lichtenstein [6], the entity was confirmed several years later by Schlumberger [7]. Named for their radiologic appearance, these benign, hypervascular bone lesions are relatively uncommon, comprising less than 5% of all primary bone tumors. Most ABCs occur in the first three decades of life and typically arise in the metaphysis of long bones and vertebrae. Their clinical presentation is associated with the site of the tumor and local symptoms that may arise. Only 6% of documented cases of ABCs are intracranial [4], such as a recently documented unusual case of an ABC arising from the ethmoid bone, presenting with proptosis and epiphora [8]. Rarer still are the intracranial, extraosseous ABCs of which only two documented cases have been found in the literature [2,3]. The typical presentation of an intracranial ABC is several months of pain and swelling, associated with increasing local mass effect. The lesion is defined as primary in the absence of a defined precursor or
Fig. 2. (A) Axial T1, (B) axial T2, (C) axial GRE, (D) axial DWI, and (E and F) axial and coronal T1 postcontrast MRI images confirm an enhancing, multiloculated, cystic mass with layering hemorrhagic fluid levels and without associated restricted diffusion.
secondary if seen in response to underlying pathology, often tumor, or traumatic event. Pathogenesis has been thought to involve an abnormal increase in venous pressure, resulting in engorgement and bony expansion. A phase of active growth follows initial osteolysis, after which maturation and ultimately bony healing. It is during the maturation stage that the classic “soap-bubble” appearance resulting from internal bony septations and trabeculations is seen [9]. More recently, a gene translocation (16q22 and 17p11-13) has been associated with solid variant and extraosseous forms [5] lending support to the theory that ABCs are true neoplasms. The rearrangement of the chromosomal arm 17p is characteristic for ABCs, often as a balanced translocation with chromosomal arm 16q [10]. However, there can be other variations of 17p rearrangement involving at least five different chromosomes, suggesting that the mechanism of oncogenic activation is heterogeneous. Furthermore, 17p rearrangement is absent in some ABCs with abnormal karyotype [11]. Although ABCs have no malignant or metastatic potential, local mass effect and alteration of locoregional vascularity may be severe, necessitating treatment [12–14]. Options include percutaneous injection with sclerosant, embolic therapy, radiation therapy, and surgical resection, and complications include profuse bleeding and recurrence [15]. Factors affecting recurrence include size of mass, patient age, and incomplete removal. Despite its rarity, as only the third such documented case of an intracranial, extraosseous ABC, and the only case with documented CT
J. Afnan et al. / Clinical Imaging 39 (2015) 297–299
299
Fig. 3. (A) Gross image of the cross section of the lesion. Numerous cystic spaces are visible. Scale bar represents 1 cm. (B) Low-power microscopic view of the lesion shows solid areas and cystic spaces separated by variably thick septa. (C) Stroma shows variable cellularity with scattered multinucleated giant cells (arrow). (D) Solid areas are composed of moderately cellular population of bland fibroblasts with foci of woven bone surrounded by osteoblasts. Atypia and necrosis are absent.
images and gross pathologic correlate, the publication in the neuroradiology literature is important, as the imaging appearance of a multicystic, “soap-bubble”-like lesion with multiple layering hemorrhagic fluid levels is virtually pathognomonic for ABC, with the differential diagnosis only including telangiectatic osteosarcoma [16]. It is important for the imaging interpreter to consider an infectious etiology such as a septated abscess when confronted with a septated peripherally enhancing intracranial mass, although internal restricted diffusion is often present in such cases. References [1] Dorfman HD, Czerniak B, editors. Cystic lesions. St. Louis, MO: Mosby; 1998. p. 855–912. [2] Gopalakrishnan CV, Rao BR, Nair S, Radhakrishnan VV, Kesavadas C. Intracranial intradural aneurysmal bone cyst: a unique case. Pediatr Neurosurg 2009;45(4):317–20. [3] Fellig Y, Oliveira AM, Margolin E, Gomori JM, Erickson-Johnson MR, Chou MM, Umansky F, Soffer D. Extraosseous aneurysmal bone cyst of cerebello-pontine angle with USP6 rearrangement. Acta Neuropathol 2009;118(4):579–81. [4] Kransdorf MJ, Sweet DE. Aneurysmal bone cyst: concept, controversy, clinical presentation, and imaging. AJR Am J Roentgenol 1995;164(3):573–80. [5] Wyatt-Ashmead J, Bao L, Eilert RE, Gibbs P, Glancy G, McGavran L. Primary aneurysmal bone cysts: 16q22 and/or 17p13 chromosome abnormalities. Pediatr Dev Pathol 2001;4(4):418–9.
[6] Jaffe HL, Lichtenstein L. Non-osteogenic fibroma of bone. Am J Pathol 1942;18(2): 205–21. [7] Schlumberger HG. Fibrous dysplasia of single bones (monostotic fibrous dysplasia). Mil Surg 1946;99(5):504–27. [8] Ozdamar Y, Acaroglu G, Kazanci B, Saka C, Kazanci B. Aneurysmal bone cyst of the ethmoid presenting with proptosis and epiphora. Orbit 2010;29(3): 149–51. [9] Martinez V, Sissons HA. Aneurysmal bone cyst. A review of 123 cases including primary lesions and those secondary to other bone pathology. Cancer 1988;61(11): 2291–304. [10] Althof PA, Ohmori K, Zhou M, Bailey JM, Bridge RS, Nelson M, Neff JR, Bridge JA. Cytogenetic and molecular cytogenetic findings in 43 aneurysmal bone cysts: aberrations of 17p mapped to 17p13.2 by fluorescence in situ hybridization. Mod Pathol 2004;17(5):518–25. [11] Baruffi MR, Volpon JB, Neto JB, Casartelli C. Osteoid osteomas with chromosome alterations involving 22q. Cancer Genet Cytogenet 2001;124(2):127–31. [12] Dávid K, Horváth Z, Horváth A, Illés T. Aneurysmal bone cyst of the occipital bone: case report. Surg Neurol 1993;40(4):332–5. [13] Chateil JF, Dousset V, Meyer P, Pedespan JM, San-Galli F, Rivel J, Caillé JM, Diard F. Cranial aneurysmal bone cysts presenting with raised intracranial pressure: report of two cases. Neuroradiology 1997;39(7):490–4. [14] Kumar S, Retnam TM, Krishnamoorthy T, Parameswaran S, Nair S, Bhattacharya RN, Radhakrishanan VV. Intracranial aneurysmal bone cyst manifesting as a cerebellar mass. Neurol India 2003;51(1):121–3. [15] Cottalorda J, Bourelle S. Current treatments of primary aneurysmal bone cysts. J Pediatr Orthop B 2006;15(3):155–67 [Review]. [16] Whitehead RE, Melhem ER, Kasznica J, Eustace S. Telangiectatic osteosarcoma of the skull base. AJNR Am J Neuroradiol 1998;19(4):754–7.
Contents lists available at ScienceDirect
Clinical Imaging journal homepage: http://www.clinicalimaging.org
Case Reports
Intracranial, intradural aneurysmal bone cyst Jalil Afnan a, Matija Snuderl b, Juan Small c,d,⁎ a
Department of Radiology, Lahey Hospital and Medical Center, 41 Mall Rd, Burlington, MA 01803 Department of Pathology, New York University Langone Medical Center and Medical School c Department of Neuroradiology, Lahey Hospital and Medical Center, 41 Mall Rd, Burlington, MA 01803 d Department of Neuroradiology, Massachusetts General Hospital, 55 Fruit St. GrB2, Boston, MA 02114 b
a r t i c l e
i n f o
Article history: Received 13 February 2014 Received in revised form 30 October 2014 Accepted 11 November 2014 Keywords: Aneurysmal bone cyst Intracranial Intradural Imaging Pathology
a b s t r a c t Aneurysmal bone cysts (ABCs) are benign, expansile, blood-filled, osteolytic lesions with internal septations that may be intraosseous or extraosseous. The cysts may cause local mass effect, and changes in the regional vascular supply necessitating intervention. A case of an intracranial, intradural ABC in a young male patient with progressively severe headaches is presented. This is only the third recorded intradural case, the majority of these rare lesions being extracranial and only a minute fraction intracranial. © 2015 Elsevier Inc. All rights reserved.
1. Introduction
3. Radiology
Aneurysmal bone cysts (ABCs) are benign, expansile, blood-filled, osteolytic lesions with internal septations that may be intraosseous or extraosseous [1]. The cysts may cause local mass effect, and changes in the regional vascular supply necessitating intervention. A case of an intracranial, intradural ABC in a young male patient with progressively severe headaches is presented. This is only the third recorded intradural case [2,3], the majority of these rare lesions being extracranial and only a minute fraction intracranial [4].
Computed tomography (CT) examination with and without contrast was obtained (Fig. 1). A comparison noncontrast CT from 2 years prior was normal in appearance (Fig. 1). The CT examination at the time of presentation demonstrated interval development of a right posterior temporal enhancing, multiloculated cystic mass with multiple layering hemorrhagic fluid levels. Magnetic resonance imaging (MRI) examination of the brain, with and without contrast confirmed an enhancing, multiloculated, cystic mass with layering hemorrhagic fluid levels and without associated restricted diffusion (Fig. 2).
2. Case report
4. Surgery
A 1-month history of pounding right posterior temporal headaches and generalized fatigue was documented in a 17-year-old male patient, whose medical history was significant for attention-deficit/hyperactivity disorder and thought disorder. Medications at the time of presentation included Aripiprazole (20 mg qhs) and Sertraline (100 mg qam). On examination, there was no focal neurologic deficit. Fine motor function and sensation were preserved. The patient was alert and lucid, without history of trauma or seizures. No palpable mass or scalp tenderness elicited.
A right posterior temporal craniotomy, with volumetric stereotactic guidance, was performed and elevated intracranial pressure demonstrated by dural tension on initial exposure. A dark, multicystic, hypervascular mass with dense attachments to the tentorium and in close apposition to the transverse sinus was identified once the dura was incised and reflected. The vascular supply was sequentially interrupted and the lesion was excised in one piece. Intraoperative frozen section analysis was not conclusive. 5. Histopathology
⁎ Corresponding author. Department of Neuroradiology, Lahey Hospital and Medical Center, 41 Mall Rd, Burlington, MA 01803. Tel.: + 1-781-744-8171; fax: + 1-781744-5232. E-mail address: [email protected] (J. Small). http://dx.doi.org/10.1016/j.clinimag.2014.11.004 0899-7071/© 2015 Elsevier Inc. All rights reserved.
Pathology examination showed a well-demarcated mass with numerous cystic spaces of variable size. Spaces were filled with blood and separated by fibrous septa, which were alternating with more solid areas (Fig. 3A and B). Fibrous septa were lined by fibroblasts and
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J. Afnan et al. / Clinical Imaging 39 (2015) 297–299
Fig. 1. (A) Normal noncontrast CT from 2 years prior to presentation. (B–D) Axial precontrast and postcontrast axial and coronal images at the time of presentation demonstrate interval development of a right posterior temporal enhancing, multiloculated cystic mass with multiple layering hemorrhagic fluid levels.
myofibroblasts (Fig. 3C) but there was no endothelium that was confirmed by negative CD34, CD31, and D2-40 immunohistochemical stain. Stromal cells were composed of spindle cells, scattered osteoclast-like multinucleated giant cells, which were positive for CD68, reactive woven bone, and some degenerated fibromyxoid tissue with calcifications (Fig. 3D). CD68 macrophages likely infiltrate the stroma as a result of the microhemorrhages. Although mitotic figures were present, the lesion lacked cellular atypia, necrosis, or malignant osteoid. Molecular cytogenetic analysis for USP6 rearrangement was negative. USP6 rearrangement involving 17p13 and most commonly fusing with CDH11 located on 16q21 can be helpful in diagnosis of ABC to help distinguish it from mimickers such as giant cell tumor, hemangioma, or osteosarcoma; however, 30–35% of ABCs lack the USP6 [5], and therefore, molecular findings must be interpreted together with morphology.
6. Discussion ABCs were first described in a small case series in 1942 by Jaffe and Lichtenstein [6], the entity was confirmed several years later by Schlumberger [7]. Named for their radiologic appearance, these benign, hypervascular bone lesions are relatively uncommon, comprising less than 5% of all primary bone tumors. Most ABCs occur in the first three decades of life and typically arise in the metaphysis of long bones and vertebrae. Their clinical presentation is associated with the site of the tumor and local symptoms that may arise. Only 6% of documented cases of ABCs are intracranial [4], such as a recently documented unusual case of an ABC arising from the ethmoid bone, presenting with proptosis and epiphora [8]. Rarer still are the intracranial, extraosseous ABCs of which only two documented cases have been found in the literature [2,3]. The typical presentation of an intracranial ABC is several months of pain and swelling, associated with increasing local mass effect. The lesion is defined as primary in the absence of a defined precursor or
Fig. 2. (A) Axial T1, (B) axial T2, (C) axial GRE, (D) axial DWI, and (E and F) axial and coronal T1 postcontrast MRI images confirm an enhancing, multiloculated, cystic mass with layering hemorrhagic fluid levels and without associated restricted diffusion.
secondary if seen in response to underlying pathology, often tumor, or traumatic event. Pathogenesis has been thought to involve an abnormal increase in venous pressure, resulting in engorgement and bony expansion. A phase of active growth follows initial osteolysis, after which maturation and ultimately bony healing. It is during the maturation stage that the classic “soap-bubble” appearance resulting from internal bony septations and trabeculations is seen [9]. More recently, a gene translocation (16q22 and 17p11-13) has been associated with solid variant and extraosseous forms [5] lending support to the theory that ABCs are true neoplasms. The rearrangement of the chromosomal arm 17p is characteristic for ABCs, often as a balanced translocation with chromosomal arm 16q [10]. However, there can be other variations of 17p rearrangement involving at least five different chromosomes, suggesting that the mechanism of oncogenic activation is heterogeneous. Furthermore, 17p rearrangement is absent in some ABCs with abnormal karyotype [11]. Although ABCs have no malignant or metastatic potential, local mass effect and alteration of locoregional vascularity may be severe, necessitating treatment [12–14]. Options include percutaneous injection with sclerosant, embolic therapy, radiation therapy, and surgical resection, and complications include profuse bleeding and recurrence [15]. Factors affecting recurrence include size of mass, patient age, and incomplete removal. Despite its rarity, as only the third such documented case of an intracranial, extraosseous ABC, and the only case with documented CT
J. Afnan et al. / Clinical Imaging 39 (2015) 297–299
299
Fig. 3. (A) Gross image of the cross section of the lesion. Numerous cystic spaces are visible. Scale bar represents 1 cm. (B) Low-power microscopic view of the lesion shows solid areas and cystic spaces separated by variably thick septa. (C) Stroma shows variable cellularity with scattered multinucleated giant cells (arrow). (D) Solid areas are composed of moderately cellular population of bland fibroblasts with foci of woven bone surrounded by osteoblasts. Atypia and necrosis are absent.
images and gross pathologic correlate, the publication in the neuroradiology literature is important, as the imaging appearance of a multicystic, “soap-bubble”-like lesion with multiple layering hemorrhagic fluid levels is virtually pathognomonic for ABC, with the differential diagnosis only including telangiectatic osteosarcoma [16]. It is important for the imaging interpreter to consider an infectious etiology such as a septated abscess when confronted with a septated peripherally enhancing intracranial mass, although internal restricted diffusion is often present in such cases. References [1] Dorfman HD, Czerniak B, editors. Cystic lesions. St. Louis, MO: Mosby; 1998. p. 855–912. [2] Gopalakrishnan CV, Rao BR, Nair S, Radhakrishnan VV, Kesavadas C. Intracranial intradural aneurysmal bone cyst: a unique case. Pediatr Neurosurg 2009;45(4):317–20. [3] Fellig Y, Oliveira AM, Margolin E, Gomori JM, Erickson-Johnson MR, Chou MM, Umansky F, Soffer D. Extraosseous aneurysmal bone cyst of cerebello-pontine angle with USP6 rearrangement. Acta Neuropathol 2009;118(4):579–81. [4] Kransdorf MJ, Sweet DE. Aneurysmal bone cyst: concept, controversy, clinical presentation, and imaging. AJR Am J Roentgenol 1995;164(3):573–80. [5] Wyatt-Ashmead J, Bao L, Eilert RE, Gibbs P, Glancy G, McGavran L. Primary aneurysmal bone cysts: 16q22 and/or 17p13 chromosome abnormalities. Pediatr Dev Pathol 2001;4(4):418–9.
[6] Jaffe HL, Lichtenstein L. Non-osteogenic fibroma of bone. Am J Pathol 1942;18(2): 205–21. [7] Schlumberger HG. Fibrous dysplasia of single bones (monostotic fibrous dysplasia). Mil Surg 1946;99(5):504–27. [8] Ozdamar Y, Acaroglu G, Kazanci B, Saka C, Kazanci B. Aneurysmal bone cyst of the ethmoid presenting with proptosis and epiphora. Orbit 2010;29(3): 149–51. [9] Martinez V, Sissons HA. Aneurysmal bone cyst. A review of 123 cases including primary lesions and those secondary to other bone pathology. Cancer 1988;61(11): 2291–304. [10] Althof PA, Ohmori K, Zhou M, Bailey JM, Bridge RS, Nelson M, Neff JR, Bridge JA. Cytogenetic and molecular cytogenetic findings in 43 aneurysmal bone cysts: aberrations of 17p mapped to 17p13.2 by fluorescence in situ hybridization. Mod Pathol 2004;17(5):518–25. [11] Baruffi MR, Volpon JB, Neto JB, Casartelli C. Osteoid osteomas with chromosome alterations involving 22q. Cancer Genet Cytogenet 2001;124(2):127–31. [12] Dávid K, Horváth Z, Horváth A, Illés T. Aneurysmal bone cyst of the occipital bone: case report. Surg Neurol 1993;40(4):332–5. [13] Chateil JF, Dousset V, Meyer P, Pedespan JM, San-Galli F, Rivel J, Caillé JM, Diard F. Cranial aneurysmal bone cysts presenting with raised intracranial pressure: report of two cases. Neuroradiology 1997;39(7):490–4. [14] Kumar S, Retnam TM, Krishnamoorthy T, Parameswaran S, Nair S, Bhattacharya RN, Radhakrishanan VV. Intracranial aneurysmal bone cyst manifesting as a cerebellar mass. Neurol India 2003;51(1):121–3. [15] Cottalorda J, Bourelle S. Current treatments of primary aneurysmal bone cysts. J Pediatr Orthop B 2006;15(3):155–67 [Review]. [16] Whitehead RE, Melhem ER, Kasznica J, Eustace S. Telangiectatic osteosarcoma of the skull base. AJNR Am J Neuroradiol 1998;19(4):754–7.
