Sacral chordoma--a case report.KP Khambekar, UB Nadkarni, J Menon, SC Karande, MK Jain
Department of Paediatrics, Seth G.S. Medical College, Parel, Mumbai.
Correspondence Address: Source of Support: None, Conflict of Interest: None PMID: 0010740738
Source of Support: None, Conflict of Interest: None
Chordoma, a rare malignant tumour of early adulthood, rarely presents in children. We report such a case of rare malignant tumour which was diagnosed in the first decade of life.
Keywords: Case Report, Child, Preschool, Chordoma, pathology,radiography,surgery,Colostomy, Female, Human, Sacrococcygeal Region, Spinal Neoplasms, pathology,radiography,surgery,Tomography, X-Ray Computed,
Chordoma is rare, slow growing but locally aggressive malignant tumour derived from primitive notochordal elements. They constitute 1% of central nervous system tumours and are mainly found in sphenooccipital and sacrococcygeal region. Chordomas are rare in children, only 22 cases of sacral chordomas have been reported in literature out of which only 5 cases were in the first decade. Children with sacrococcygeal chordomas do not generally have a very favourable outlook. We report a case, which presented in the sacrococcygeal region in the early first decade of life.
A 5-year-old female child was brought with swelling in the sacral region, since 3 months. It was associated with constipation, urinary incontinence and increasing pain in the region of the swelling. On enquiry, it was revealed that patient had difficulty in getting up from squatting position.
On examination, there was 10 cm swelling in the sacral region free from the skin, with variegated consistency. The borders of the swelling could not be felt. It was non-fluctuant and transillumination was negative. Nervous system examination revealed wasting of thigh muscles, hypotonia, depressed knee jerks, downgoing planters and power of grade 2/5 in all the thigh muscles. However, no sensory involvement was noticed. Rest of the systemic examination was normal. On perrectal examination, rectal mucosa was free from the swelling and a firm to hard growth was palpable.
All routine investigations were within normal limits. Radiological examination revealed a soft tissue mass in the presacral region with destruction of sacrum. CT-scan revealed osteolytic tumour with areas of calcification and haemorrhage, arising from the sacrum and displacing the rectum [Figure - 1].
A direct posterior open biopsy of the swelling revealed physaliphorus cells (Phy: bubble; phorus: bearing), eipthelial like and spindle shaped cells with myxoid intercellular matrix. These cells had vacoulated cytoplasm with prominent vesicular nuclei, glycogen and mucosubstances in the cytoplasm [Figure - 2].
Transverse colostomy followed by radical resection of the tumour mass was done by posterior approach under general anaesthesia. Colostomy had to be done as the tumour mass had invaded the colon, however no radiotherapy was given to this patient. Patient failed to follow up after surgery. Histopathological study of the mass confirmed the diagnosis of chordoma.
Chordomas are neoplasms localised in the midline of the body, with approximately 50% in sacrococcygeal, 35% in cervical spine and skull and 15% in the thoracic spine and elsewhere. They are distinctly uncommon neoplasms in the first two decades of life. Chordomas in children are more variable histologically and pursue a more aggressive clinical course than their adult counterpart. They show frequent metastasis more often in the lungs and lymph nodes. The male to female ratio is 3:1.
A sacral chordoma has presacral, subperiosteal extension and also extension into the sacral canal. Sacrum and coccyx may be destroyed due to invasion of tumour. Rectum, bladder, uterus and adnexae are either displaced or completely surrounded by the tumour. These are firm, greyish tumours, located and well capsulated in soft tissues with variegated consistency and areas of haemorrhages. No distinction is seen where the bone is invaded. Metastasis occur in only 10% of cases in lungs, liver, regional lymphnodes, skin and muscles,.
Microscopically, it consists of pleomorphic cells arranged in clusters amidst myxoid matrix. Spindle shaped cells are also seen. These cells show vacoulated cytoplasm with prominent vesicular nuclei. Immunohistochemically these cells are reactive for both cartilagenous and epithelial markers.
Clinical presentation consists of soft tissue swelling in the sacral region, with associated constipation, urinary incontinence, pain in the region of swelling and lower motor neuron signs in the lower limbs. Radiological examination, show soft tissue mass in presacral region, with expansion of sacrum and irregular areas of bone destruction. Endorectal sonography can be used for diagnosis and sonographically guided biopsy of the tissue. Chordoma can be suspected if a midline sacrococcygeal tumour show reduced uptake or cold lesion on bone scintigraphy with Tc-99m HMDP and no increased accumulation on gallium scintigraphy. CT-scan is necessary to define the extent of the tumour. MRI is found to be as sensitive as CT-scan for detection of the extent of tumour. However, definitive diagnosis is possible only by fine needle aspiration cytology and a direct posterior open biopsy. Definitive treatment is by wide resection of the tumour with a margin of normal tissue avoiding spillage.
Although role of radiotherapy for childhood chordomas is not established and its use in pediatric age group can be debated. Postoperative irradiation with median dose more than 48Gy is advocated. In a study by Keisch ME et al, the 10 year survival rate was significantly better in patients treated with surgery alone or surgery and irradiation than in those treated with radiotherapy alone (52%, 32% and 0% respectively). Cryosurgical treatment of sacrococcygeal chordoma has being tried, to prevent damage to surrounding adnexae. Prognosis depends on the malignant potential of chordoma, its relation to important adnexae and its high recurrence rate. Early diagnosis and radical surgery has prolonged the life and has decreased the recurrence rates in sacral and vertebral chordoma.
We wish to thank the Dean, Seth GS Medical College and King Edward Memorial Hospital for allowing us to publish this case.
[Figure - 1], [Figure - 2]