GIANT CELL TUMOR WITH VERTEBRAL ANEURYSMATIC BONE CYST IN A YOUNG – A CASE REPORT

TUMOR DE CÉLULAS GIGANTES COM CISTO ÓSSEO ANEURISMÁTICO VERTEBRAL EM JOVEM – RELATO DE CASO

TUMOR DE CÉLULAS GIGANTES CON QUISTE ÓSEO ANEURISMÁTICO VERTEBRAL EN JOVEN – REPORTE DE CASO

ABSTRACT

Objective:  To report a case of giant cell tumor (GCT) in conjunction with an aneurysmal bone cyst (ABC) in the lumbar spine (L4) of a young with post-treatment recovery.

Introduction:  Giant cell tumor (GCT) is a benign and aggressive bone neoplasm, frequently located in the knees, distal femur, and proximal tibia, and is rare in the spine. It can, and frequently does, coexist with aneurysmal bone cyst (ABC), also benign and locally aggressive. The diagnosis requires clinical and radiological correlation.

Case report:  A young patient with initially mild low back pain, which progressively limited the patient until it reached incapacitating and bedridden levels. He sought care at different levels of health care on numerous occasions and for months until he was admitted to a tertiary hospital. After imaging tests, a fracture of the body of the fourth lumbar vertebra (L4) was observed, with a pathological appearance and a compressive mass effect on the neural elements at the same level. After surgical treatment and open biopsy, the histology of the mass at L4 was identified as a giant cell tumor with an aneurysmal bone cyst component (histology, pathology, and immunohistochemistry). He underwent surgeries for clinical stabilization and excision of the recurrent and locally aggressive tumor mass, in addition to performing embolization of the tumor mass by radio intervention and adjuvant use of Desonumab.

Conclusion:  Benign tumors such as aneurysmal bone cysts and giant cell tumors, although rare in the spine, can confuse diagnoses and are locally aggressive. Such pathology should be treated in a tertiary health service by a team specialized in orthopedics and spine surgery, as well as with multidisciplinary assistance and follow-up consisting of a surgeon, interventional radiologist, oncologist, and related specialties. The need for immunomodulatory drugs is present. Level of Evidence V; Case Report.

Keywords:
Spine; Low Back Pain; Giant Cell Tumors; Neoplasia; Immunotherapy

RESUMO:

Objetivo:  Relatar um caso de tumor de células gigantes (TCG) em conjunto com cisto ósseo aneurismático (COA), em coluna lombar (L4) de um jovem, com recuperação pós-tratamento.

Introdução:  O tumor de células gigantes é uma neoplasia óssea benigna e agressiva, frequentemente localizada em joelhos, fêmur distal e tíbia proximal, sendo raro na coluna vertebral. Pode, e frequentemente, coexiste com cisto ósseo aneurismático (COA), também benigno e localmente agressivo. O diagnóstico requer correlação clínica e radiológica.

Relato de caso:  Paciente jovem com lombalgia inicialmente discreta, progressivamente limitante até atingir níveis incapacitantes e de acamamento. Procurou atendimento em diferentes níveis de atenção à saúde, em inúmeras oportunidades e por meses até dar entrada em hospital terciário. Após exames de imagem, foi observada fratura do corpo da quarta vértebra lombar (L4) de aspecto patológico com efeito de massa compressiva nos elementos neurais no mesmo nível. Após terapêutica cirúrgica e biópsia aberta foi identificada a histologia da massa em L4 como tumor de células gigantes com componente de cisto ósseo aneurismático (histologia anatomopatológica e imuno-histoquímica). Realizou cirurgias para estabilização clínica e exérese de massa tumoral, recidivante e localmente agressiva, além de realizar embolização da massa tumoral por rádio intervenção e fazer uso adjuvante de Desonumabe.

Conclusão:  Tumores benignos como cisto ósseo aneurismático e tumor de células gigantes, apesar de raros na coluna vertebral, podem confundir diagnósticos e são agressivos localmente. Tal patologia deve ser tratada em serviço terciário de saúde por equipe especializada em ortopedia e cirurgia de coluna vertebral assim como auxílio e seguimento multidisciplinar composto por cirurgião, radiologista intervencionista, oncologista e especialidades correlatas. A necessidade de drogas imunomoduladoras faz-se presente. Nível de Evidência V; Relato de Caso.

Descritores:
Coluna Vertebral; Dor Lombar; Tumores De Células Gigantes; Neoplasia; Imunoterapia

RESUMEN:

Objetivo:  Reportar un caso de tumor de células gigantes (TCG) junto con quiste óseo aneurismático (COA), en la columna lumbar (L4) de un joven, con recuperación postratamiento.

Introducción:  El tumor de células gigantes es una neoplasia ósea benigna y agresiva, frecuentemente localizada en rodillas, fémur distal y tibia proximal, y es rara en la columna. Puede coexistir, y a menudo ocurre, con un quiste óseo aneurismático (COA), también benigno y localmente agresivo. El diagnóstico requiere correlación clínica y radiológica.

Caso clínico:  Paciente joven con dolor lumbar que inicialmente fue leve, limitándose progresivamente hasta alcanzar niveles incapacitantes y encamados. Buscó atención en diferentes niveles de atención de salud, en innumerables ocasiones y durante meses hasta ser internado en un hospital de tercer nivel. Tras los exámenes de imagen se observó una fractura patológica del cuerpo de la cuarta vértebra lumbar (L4) con efecto de masa compresiva sobre los elementos neurales al mismo nivel. Luego del tratamiento quirúrgico y biopsia abierta, la histología de la masa en L4 se identificó como un tumor de células gigantes con componente de quiste óseo aneurismático (histología anatomopatológica e inmunohistoquímica). Realizó cirugías de estabilización clínica y escisión de una masa tumoral recurrente y localmente agresiva, además de realizar embolización de la masa tumoral mediante radiointervención y uso de adyuvante Desonumab.

Conclusión:  Los tumores benignos como el quiste óseo aneurismático y el tumor de células gigantes, aunque son raros en la columna, pueden confundir el diagnóstico y son localmente agresivos. Dicha patología debe ser tratada en un servicio terciario de salud por un equipo especializado en ortopedia y cirugía de columna, así como asistencia y seguimiento multidisciplinario compuesto por cirujano, radiólogo intervencionista, oncólogo y especialidades afines. Existe la necesidad de fármacos inmunomoduladores. Nivel de Evidencia V; Relato de Caso.

Descriptores:
Columna Vertebral; Lumbalgia; Tumores De Células Gigantes; Neoplasia; Inmunoterapia

INTRODUCTION

Giant cell tumor (GCT) is a generally benign, locally aggressive, and rarely metastatic condition that accounts for about 5% of primary bone tumors.¹, ² GCT mostly affects skeletally mature patients in the third decade of life, initially developing in the epiphyses of long bones, near the joints, mainly around the knees.¹

The involvement of the spine by GCT is rare, occurring in less than 3% of cases.³ Although it is not commonly found in the spine and presents an insidious onset with nonspecific symptoms, its clinical nature is expressed in an aggressive manner and rapid growth, causing bone cortical rupture, neurological deficits, and a decline in the general condition of patients.⁴

In addition to GCT, another rarely found primary bone tumor is the aneurysmal bone cyst (ABC), a benign tumor that mainly affects adolescents and young adults, with about 15% of cases present in the spine.⁵ The ABC can present a benign or aggressive nature, with high morbidity rates, when it has high recurrence and is not treated correctly.⁵ ABCs are secondary changes often found in GCT, especially in histopathological analyses.⁶

The diagnosis of GCTs is made based on the patient’s clinical picture along with radiographic images. The clinic is usually of progressive pain and increased joint volume, with or without mechanical involvement, and the X-ray shows a tumor of osteolytic character with destruction of epiphyses.⁷ ABCs are initially identified by radiographic examination, followed by magnetic resonance imaging and, eventually, computed tomography and their treatment is mostly surgical.⁸ The treatment of choice for GCTs is the surgical resection of the pathological tissue, but radiotherapy and chemotherapy are possible therapeutic options despite the known risk of malignant degeneration.⁹

The present study reports the case of a young patient with intense, limiting, and refractory lower back pain, with subsequent diagnosis and anatomohistopathological confirmation of GCT with ABC component.

CASE REPORT

A 23-year-old man with a condition of intense lower back pain sought the emergency unit several times over six months for resolution of the condition but without success. Admitted to a tertiary public hospital bedridden for 3 months, with a condition of intense, limiting, and refractory lower back pain. He had a normal neurological examination and was in good general health, without other noteworthy commemoratives. On the initial radiographic examination, the obliteration of the left pedicle of L4 (winking owl sign), collapse of this same vertebral body, and kyphosis with this apex (Figure 1) were noted.

Figure 1
AP and lateral entry X-rays show obliteration of the left pedicle of L4, collapse of this vertebral body, and lumbar kyphosis with an apex at this level.

The tomography added the loss of the bony contours of the L4 body and a mass with an exophytic aspect, asymmetrically affecting the body, pedicle, and lamina with paramedian growth to the left as well as within the vertebral canal (Figure 2).

Figure 2
Axial CT scan of L4 with loss of bony contours of L4 and asymmetric mass involving body, pedicle, and lamina with paramedian growth to the left.

The resonance reinforced the findings with greater detail of the mass growth, mostly in low signal, compromising the central canal, in addition to displacing the left L4 root, large vessels, and psoas to the left with extensive edema of the left paravertebral musculature (Figure 3).

Figure 3
Sagittal cuts in T2, T1, and Stir, as well as axial cuts in T2 and T1 from MRI, provide details of the mass growth, mostly in low signal, displacing the left L4 root, large vessels, and psoas to the left with extensive edema of the left paravertebral muscles.

It was initially submitted (05/06/2016) to a posterior approach of the lumbar spine with instrumentation from L3 to L5 and wide inferior decompression from L3 to superior L5. In addition to this procedure, there was an attempt to cement the L4 body through the right pedicle (unsuccessful), creating a level of structuring and excision of part of the visible mass (Figure 4). On 05/08/2016, the patient was discharged, asymptomatic, with preserved neurological function and independent ambulation using Denosumab - 120mg subcutaneously monthly as an adjuvant method.

Figure 4
X-ray of the lumbosacral spine in anteroposterior (AP) and lateral (P) projection with cementation of the L4 body through the right pedicle and instrumentation fixing at one level.

Returned after three months with sudden and severe low back pain. In the input image, the failure of the instrumentation was observed (Figure 5), and surgical revision was then indicated and performed on 08/29/20216. This second revision surgery, performed posteriorly, considerably expanded the original approach with instrumentation from L3 to L5 to L2 to S1, in addition to the excision of part of the visible mass, which at this time showed a significant increase.

Figure 5
X-ray of the lumbosacral spine in anteroposterior (AP) and lateral (L) projection showing instrumentation failure.

After clinical stabilization, he underwent an anterior transperitoneal approach, L4 corpectomy with excision of all visible mass, central and radicular neural decompression, as well as placement of a cage filled with bone cement on 09/23/2016 (Figure 6 A and B). In this third approach, there were massive bleedings, severe hemodynamic instability, requiring blood product transfusion, still evolving into hypovolemic shock, and the need for stabilization in the ICU. There were complications, such as massive deep vein thrombosis (DVT) in the left lower limb, with a short stay in the ICU and conservative treatment with anticoagulation by the vascular surgery team. There was also a short period of retrograde ejaculation with spontaneous resolution.

Figure 6
A) X-ray of the lumbosacral spine in anteroposterior (AP) and lateral (P) projection with L4 corpectomy, excision of all visible mass, and a cage filled with bone cement. B) Excision of tumor mass via anterior approach.

Having shown good progress, stability of the residual mass in the images, and no symptoms, it was decided to suspend the use of the immunomodulator after about 1 year and 4 months from the third surgery (anterior approach). About 1 month after the suspension of the immunomodulator, on (02/26/2018), given the increase in residual mass in the control images, a fourth surgery was indicated and performed, again via the posterior route, to remove the tumor mass that was growing back (Figure 7). In a fifth session, he underwent arteriography (Figure 8) and embolization by radio intervention for residual mass with some success. The anatomopathological examinations from surgical biopsies always identified aneurysmal bone cyst (ABC) with a giant cell tumor (GCT) component confirmed by immunohistochemistry (Figure 9A and 9B).

Figure 7
Excision of tumor mass in revision surgery via the posterior approach.

Figure 8
Arteriography with embolization by radio-intervention.

Figure 9
A) Anatomopathological report with evidence of aneurysmal bone cyst (ABC) with a giant cell tumor (GCT) component. B) Immunohistochemical report with evidence of proliferation of multinucleated giant cells, which may represent a giant cell bone tumor.

The patient was followed up on an outpatient basis by a multidis-ciplinary team that included orthopedics, vascular surgery, oncology, urology, and radiology for years. In your last in-person evaluation (04/16/2024), the patient presented with an uncharacteristic gait, without stigmas. It was observed in the left lower limb, a slight decrease in muscle volume both in the thigh and calf, of approximately 1.5cm in the left thigh and 1cm in the left leg. There were no signs of edema, induration, or inflammation.

On neurological examination, tactile sensitivity in key dermatomes showed a decrease in the left lower limb, from L1 to L3, without relation to the predominantly affected level (L4) and is a controversial clinical explanation. In the evaluation of muscle strength in key myotomes: plantar flexor strength (S1-S2) on the right, grade 5 and grade 4 on the left, foot/ankle dorsiflexors (L4) grade 5 on the right and grade 4 on the left, plantar flexors (S1-S2) grade 5 on the right and grade 4 on the left, and hallux extensors (L5) on the right grade 5 and 4 on the left. Other key myotomes are preserved, physiological, and symmetrical at grade 5 muscle strength. The osteotendinous reflexes are globally hypoactive in the upper and lower limbs, except for the Achilles, which are increased but symmetrical. No pathological reflexes or proximal signs of upper motor neurons were found.

DISCUSSION

Giant cell tumor (GCT) is a benign, aggressive primary bone neoplasm of mesenchymal nature, characterized by the proliferation of multinucleated giant cells scattered throughout the tumor tissue.⁷ In 1818, the tumor was histologically described as a “fungal medullary exostosis”,¹⁰ and in 1845, it was described by LEBERT as a multinucleated giant cell bone tumor with a tendency to recur with cure through amputation.¹⁰

TGC is most often located in the knees, distal femur, and proximal tibia, and less frequently in the proximal humerus, distal radius, proximal femur, dorsal spine, and sacral spine. In the present case report, the involvement of a less commonly affected location, such as the lumbar spine, specifically at L4, was observed.¹¹

For diagnosis, a good correlation between clinical and radiology is necessary to rule out other types of tumors and pseudotumors, such as the aneurysmal bone cyst. ABC is considered a differential diagnosis for GCT. However, the clinical and radiological exams of the studied patient diverged from what is found in the literature, manifesting in a mixed form with GCT and making a quick and reliable diagnosis difficult, causing worsening of the patient’s clinical condition and tumor progression.¹¹, ¹²

Clinically, they present slow growth in the literature, with progressive pain, increased joint volume, and limited movement. However, in the presented case, there was significant growth in just a few weeks between the first and second surgical approach, which is another characteristic that diverges from the literature and is interesting about the case. Furthermore, signs such as paresis and paresthesia are observed, as well as pathological fractures due to the extension of the tumor. The clinical literary findings partially corroborate with the present case study, as the patient presented a pathological fracture, intense pain, and work limitation due to a significant pain condition.¹³

Radiologically, the tumor presents as an osteolytic lesion, possibly showing cortical thinning, with a soft tissue component surrounded by sclerotic margins. The findings in the clinical case were consistent with the radiology described in the literature. The imaging exams performed revealed that the tumor growth caused root displacement and pedicle erasure.¹³

As TGC is rarely found in the spine, its treatment is challenging, especially since young people are affected by this pathology. The therapeutic approaches used include surgery for tumor resection, reconstruction or maintenance of spinal alignment and stability, radiotherapy, embolization, cryosurgery, and liquid nitrogen, among others.¹¹

The patient studied in the present case underwent several surgical procedures; however, due to the recurrence of the disease, embolization was chosen after the fourth surgery, aiming to reduce the remaining tumor, with some local success. Maintained the use of Denosumab, an immunomodulator, at a dose of 120mg subcutaneously, which continues monthly to this day.

Denosumab is a human monoclonal antibody used to prevent osteolysis of tumors such as GCT when in more advanced stages, when surgery is contraindicated, or when total resection of the tumor is not possible due to risks, as in the case of the patient, where the tumor is in a difficult-to-manage location. The use of Denosumab causes some GCTs not to progress, reducing unnecessary interventions.¹⁴ Its use is controversial in the literature but has proven effective in this reported case.

Although the tumor was not completely resected, which was unfeasible due to its close contact with neural elements (central and radicular) as well as large vessels at the base (inferior aorta, inferior vena cava and their bifurcations), the patient, who was bedridden, fully recovered and resumed work and university life. In a similar case report, the authors¹¹ describe a complete recovery without deficits or significant impairments in their patient.

CONCLUSION

Benign tumors such as ABCs and GCTs, although rare in the spine, can be associated, complicating the diagnosis and manifesting local aggressiveness. Therapeutic approaches, including combined specialized surgical techniques, embolization, and immunomodu-lation, are effective strategies for the treatment of these conditions.

• Study conducted by the Faculdade de Medicina Estácio de Ribeirão Preto, Ribeirão Preto, SP, Brazil.

REFERENCES

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Edited by

• Reviewed by:
  Robert Meves

Publication Dates

• Publication in this collection
  22 Nov 2024
• Date of issue
  2024

History

• Received
  25 Aug 2024
• Accepted
  03 Oct 2024