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Intramedullary Spinal Cord Lesion: Differential Diagnosis Between Hemangioblastoma and Renal Metastatic Carcinoma: A Case Report

Laura Cid Mendes* Daniel Pascual Argente, Andrea Beatriz Jiménez Pérez , Andoni García Martín, Daniel Ángel Arandia Guzmán, Luis Torres Carretero, Rocío Uriel Lavín, Laura Ruiz Martín, Javier Pérez Suárez, Álvaro Otero Rodríguez, Patricia Alejandra Garrido Ruiz, Jesús María Gonçalves Estella, Disney Ramón Rodríguez, Andrea Belén Carpio Bojorque , Ángela Dayana Tapia Moscoso and Juan Carlos Roa Montes deoca

Department of Neurosurgery University Hospital of Salamanca, Spain

*Corresponding author

*Laura Cid Mendes, University Hospital of Salamanca, Spain.

Abstract

We present the case of a 67-year-old man with a clinical history of hypoesthesia and progressive weakness of the lower limbs. The imaging tests revealed an intramedullary lesion that explained the symptoms. His personal history included a clear cell renal carcinoma that had been treated ten years prior. Since intramedullary metastasis is a rare entity and the symptoms and radiological findings of intramedullary lesions are unspecific, the initial suspicion was an ependymoma. The lesion was treated surgically. During the surgical procedure, the macroscopic appearance of the lesion was hypervascular and purplish, reminiscent of hemangioblastoma. The initial anatomopathological analysis was indicative of hemangioblastoma, but after an extended study with immunohistochemical analysis, the final diagnosis of the lesion was a metastasis of clear cell renal cell carcinoma. We would like to emphasize the importance of immunohistochemical analysis, which in this case was essential for the differential diagnosis.

Key words: Hemangioblastoma; Clear cell Renal Cell carcinoma; Central Nervous System; Magnetic Resonance Imaging; Spinal cord tumor

Abbreviations: ccRCC: Clear cell Renal Cell carcinoma; CNS: Central Nervous System; CT: Computed-tomography; EMG: Electromyography; Gy: Greys; IMSCT: Intramedullary Spinal cord tumor; MEP: Motor Evoked Potential; MRI: Magnetic Resonance Imaging; SSEP: Somatosensory Evoked Potential

Introduction

Ependymoma is the most common primary spinal tumor in adults among other less common lesions, such as astrocytoma, subependymoma, ganglioglioma, hemangioblastoma, or metastasis. Intramedullary metastases are very rare entities reported accordingly in only 1-3% of all intramedullary tumors [1].

Hemangioblastomas frequently appear as isolated and sporadic lesions, but in some cases, they are associated with Von Hippel–Lindau syndrome [1-3].

CT is a useful tool to assess the bone tissue, while MRI is fundamental to evaluate the spine and diagnose intramedullary lesions. Surgery is the treatment of choice in most intramedullary lesions. Other treatments that may also be applied include radiotherapy and chemotherapy [3]. The objective of this article is to describe a rare case of an intramedullary lesion in which it was necessary to establish a differential diagnosis between hemangioblastoma and metastasis of a clear cell carcinoma. These are two entities with a completely different natural history, nevertheless they share some traits at a genetic level, they coexist in some syndromes and they share some microscopic and macroscopic characteristics.

Case Report

The patient is a 67-year-old man with a history of hypertension, dyslipidemia, middle cerebral artery stroke with residual dysarthria, essential thrombocythemia treated with hydroxyurea, and a clear cell renal cell carcinoma ten years prior to his current symptoms which was treated with radical nephrectomy and did not require adjuvant therapy.

The patient was referred our department of neurosurgery with symptoms of progressive weakness of the lower limbs of 2 months of evolution, with predominance of the right leg. In his first visit, the patient was on crutches. The physical examination showed normal strength in the upper limbs, while in the lower limbs it was 3+/5 in the left leg and 3/5 in the right leg. He presented with hypoesthesia below Th12. The patient had bladder and fecal incontinence.

The MRI studies revealed an ovoid intramedullary lesion at the Th11, with intense and homogeneous enhancement after contrast in T1, and with marked and homogeneous enhancement after gadolinium. It was hyperintense in T2 (Figure 1). The initial diagnostic suspicion was ependymoma, because it is the most common intramedullary primary tumor, and the radiological characteristics were compatible. The differential diagnosis included glioma and hemangioblastoma.

The symptoms quickly worsened some days after the first assessment. After assessing the case, it was decided that the best treatment option was surgery with neurophysiological monitoring. During the operation, the macroscopic aspect of the lesion (purplish and hypervascular tissue) suggested the possibility of hemangioblastoma. Intraoperatively, neurophysiological monitoring was applied with somatosensory evoked potential (SSEP), motor evoked potential (MEP) and electromyography (EMG). The initial anatomopathological diagnosis after hematoxylin and eosin staining was hemangioblastoma. After an extended study with immunohistochemical analysis, it was observed that finally diagnosis was compatible with a metastatic lesion from ccRCC. The immunohistochemical analysis used different markers such as: PAX8 (+), RCC(+), CAIX (+), Vimentin (+), CD 10 (+), EMA (+), CAM 5.2 (+), CD56 (-).

Figure 2 shows an hemangioblastoma and clear cell cancer, and there is microscopic similarity between both entities. After the final diagnosis the case was reevaluated. The gammagraphy was normal. Sunitinib was used as an adjuvant therapy, together with radiation therapy on the surgical field. After finalized radiotherapy, the MRI does not reveal images that suggest a recurrence.The paraplegia improved progressively since the operation, with a strength of 3+/5 in the lower limbs. The patient needs an urinary catheter and developed a sphincter incontinence. He has improved his ability to move from bed to the wheelchair and requires less help. The patient claims his quality of life has improved, and he continues receiving rehabilitation therapy.

 

Figure 1: T1-MRI With Contrast shows sagital (left) and axial (right) at TH11.

Figure 2: Riht Image is an hemangioblastoma and left image is a clear cell renal cell cancer. Microscopically are very similar: hipervascular component and stromal cells.

Figure 3: Inmuhistochemistry was essential to reach the diagnosis: EMA(+), Carbohidrae-IX(+), Inhibina(-),RCC(+).

Figure 4: Inmuhistochemistry: CAM 5.2 (+), CD10 (+),PAX8 (+),CD56 (-).

Discussion

In general terms, the initial symptoms in patients with intramedullary tumors include back pain which increases in supine position and frequently the presence of dysesthesia is a common observation. The neurological symptoms and signs are conditioned by the location of the lesion, since its growth affects the spinal cord due to compression and/or infiltration, and are usually unspecific both in primary or secondary lesions. Intramedullary metastases are very rare, lung and breast cancer are the primary tumors that most frequently metastasize in the spine [3].

In patients with intramedullary tumors, the most significant neurologic prognostic marker is the preoperative neurological status. A frequently associated feature in intramedullary metastasis is a rapid deterioration of neurological function [4,5].

The possibility that the lesion was a metastasis was initially considered unlikely found that the most common sites of metastasis across the entire cohort were lung, lymph nodes, bone, liver, adrenal, and brain. The epidemiological data, tumor prevalence rates and radiological information led to an initial suspicion of an intramedullary ependymoma. Radiological findings do not commonly allow to differentiate between different intramedullary tumors with certainty. The lesion was macroscopically similar to an hemangioblastoma, due to its consistence, color, and vascularization. The most common route of renal cancer mestastasis is hematogenous, either arterial or venous, as well as through the liver, lungs, and bones [5].

Treatment of intramedullary metastases is controversial, and there are different options available: radiation therapy, chemotherapy, surgery, or a combination of those. Surgery must be considered in some selected cases, mainly patients without a diagnosis and/or with a controlled primary tumor and a good clinical and neurological condition. A surgical approach in these cases may improve the survival rates as well as the quality of life of these patients5

In summary, prognosis is determined by the extent of the primary tumor and the clinical condition of the patient. Available literature shows that surgery associated with complementary therapy may be useful in patients with a single intramedullary metastatic lesion or in cases in which systemic disease is not spread. When metastasis is suspected, the goal is both to preserve the neurological function and to attempt total resection if feasible. Surgery may also be indicated in radioresistant cases and in patients with good general condition and a rapid neurological decline.

Conclusion

Histological differentiation between clear cell carcinoma and hemangioblastoma poses a diagnostic challenge due to the similarity between their genetic, microscopic, and even macroscopic characteristics. Finally, initial symptoms and radiological findings may be indistinguishable in all intramedullary lesions, which makes the diagnostic approach even harder.The case described here also reveals the fundamental role of immunohistochemistry in the anatomopathological diagnosis and the importance of considering the possibility of a metastatic lesion when evaluating a single intramedullary lesion.

The goal regarding all intramedullary tumors and, more specifically, intramedullary metastasis, is to achieve an early diagnosis that makes possible to start multimodal therapy as soon as possible and to minimize the effects of the disease regarding survival rate and quality of life.

REFERENCES

  1. Louis DN, Perry A, Wesseling P (2021) The 2021 WHO Classification of Tumors of the Central Nervous System: a summary. Neuro Oncol. 23(8): 1231-1251.
  2. Yin X, Duan H, Yi Z, Li C, Lu R, Li L (2020) Incidence, Prognostic Factors and Survival for Hemangioblastoma of the Central Nervous System: Analysis Based on the Surveillance, Epidemiology, and End Results Database. Front Oncol 10: 570103.
  3. Jung SM, Kuo TT (2005) Immunoreactivity of CD10 and inhibin alpha in differentiating hemangioblastoma of central nervous system from metastatic clear cell renal cell carcinoma. Mod Pathol 18(6):788-794.
  4. Barrie U, Elguindy M, Pernik M, Adeyemo E, Aoun SG, et al. (2020) Intramedullary Spinal Metastatic Renal Cell Carcinoma: Systematic Review of Disease Presentation, Treatment, and Prognosis with Case Illustration. World Neurosurg 134:584-593.
  5. Carney E, Banerjee, Ellis C, Albadine R, Sahrma R, et al. (2011) PAX2()/PAX8()/Inhibin A(+) Immunoprofile in Hemangioblastoma: A Helpful Combination in the Differential Diagnosis With Metastatic Clear Cell Renal Cell Carcinoma to the Central Nervous SystemAm J Surg Pathol 35:262–267.

JCMCRI
ISSN: 3064-8025

Journal of Clinical & Medical Case Reports, Images (JCMCRI) ISSN: 3064-8025 is a peer-reviewed journal dedicated to publishing clinical images from all sectors of medicine. The goal of this magazine is to disseminate information about new discoveries and treatments in science and medicine.

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