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Файл:Ординатура / Хирургия / Библиотека им академика М.И. Перельмана / Книга_6042_Библиотеки_им_академика_М_И_Перельмана.pdf
396
Cervical 3 (12 %)
Lumbosacral 1 (4 %)
Sacral 1 (4 %)
Tumor site
Cauda equina 8 (36 %) which seems to be the predilection
Intradural extramedullary 7 (31 %)
Intramedullary 5 (22 %)
Extradural 2 (9 %)
118.3 Etiology
The tumor was called neuroepithelioma arising from the vestige of the neural crest
from totipotent cells. The underlying etiological factors are unknown.
118.4 Pathology
PNET consists of small round cells with hyperchromatic nuclei with neural differentiation features, which typically form Homer-Wright rosettes that may vary sustainability. Some tumors may show abortive rosette formation. Strong
immunoreactivity for MIC-2, a neuron specifi c cell tumor, such as lymphoma, neuroblastoma, and small round cell sarcoma. The tumor tends to spread locally and
metastasize.
In the series mentioned above, metastasis was found in eleven cases (44 %):
Brain 2 (18 %)
Leptomeninges 2 (18 %)
Diffused intraspinal 2 (18 %)
Bone and lymph nodes 2 (18 %)
Lung 2 (18 %)
Pleura 1 (9 %)
The PNET tumor is histologically and clinically very malignant.
118.5 Clinical Picture
The tumor is rapid growing with brief duration of symptoms and a rapidly progressive course. It starts with back pain radiating to the legs, lower exteremity weakness,
paresthesia, paraparesis, and in cervical tumors tetraparesis, sphincter dysfunction
e.g. urinary retention may be an early symptom.
118 Primary Intraspinal Primitive Neuroectodermal Tumor (PNET)
397
118.6 Diagnosis
Diagnosis based on
1. Clinical exam: signs and symptoms
2. MRI: shows the site, level, and extent of the tumor. The T2-weighted images
show the tumor mass usually with high signal intensity cyst like lesion. In general, the tumor shows a low signal intensity. T1-weighted MRI and high signal
on T2-weighted images, with varying amounts of tumor calcifi cation, necrosis,
and surrounding edema. These signs are more marked in cerebellar
PNET. Gadolinium enhancement helps in diagnosis. The tumor should be differentiated from ependymoma when it is intramedullary.
118.7 Management
The optimal treatment for PNET is not yet established. Treatment options are:
• Surgery: usually complete removal is not attained.
• Radiation therapy: local or craniospinal radiation; however, this has its disadvantages in childhood. 5000 cGy has been accepted.
• Chemotherapy: there are several protocos for this treatment. Multi-drug therapy
is usually tried vinscristine, lomustine, cisplatin, and cyclophosphamide.
• Adaptive immunotherapy: lymphokine activated killer cells possess several attributes that could make them useful in adaptive immunotherapy. They are highly
potent against tumors; require no prior antigen exposure to express their oncolytic effect. Their recognition mechanism is able to distinguish between normal
and malignant cells and thereby spare normal tissue and express their oncolytic
activity against many tumors.
• The study by Richard et al., is promising against cells of PNET. It consists of
intrathecal administration of IL-2 and LAK cells as an adjuvant therapy; eradicate the cells of PNET without damage to normal cells in contrast to the
radio-chemotherapy.
However, as mentioned above, the optimal therapy for PNET is still uncertain.
The above therapies may extend survival, but the prognosis is very poor, according
to Kim et al., eight patients still alive (32 %).
Updates
Abstracted from Meng and He 2015.
Primitive neuroectodermal tumors (PNETs) are rare tumors of uncertain histo-
genesis that occur predominantly in children and young adults. The current study
reports a case of PNET in a 60-year-old female, which presented clinically as an
Updates
398
intraspinal tumor, causing symptoms of lower back pain, numbness and pain in the
right lower extremity. The patient underwent tumorectomy. Following primary therapy, the symptoms of spinal cord compression were relieved. The patient underwent
several courses of radiotherapy following surgery but refused to continue with chemotherapy. After a further 4 months, the tumors recurred and the patient succumbed
to the disease.
Since the fi rst description of the condition by Hart and Earle in 1973 (2), <100
cases have been documented. The annual incidence of this condition is estimated to
range from 0.2 to 0.4 cases per 100,000 (3), and its concept has been controversial
for over a decade, as diagnosis remains diffi cult and no effective treatment has been
identifi ed. PNETs are rapidly growing soft tissue masses, which cause symptoms of
nerve compression and pain.
Reference
Meng XT, He SS. Primitive neuroectodermal tumor in the spinal canal: a case
report. Oncol Lett. 2015;9(4):1934–6.
Reference
Kim YW, Jin BH, Kim TS, Cho YE. Primary intraspinal primitive neuroectodermal tumor at conus
medullaris. Yonsei Med J. 2004;45(3):533–8.
118 Primary Intraspinal Primitive Neuroectodermal Tumor (PNET)
399
© Springer International Publishing Switzerland 2016
I.M. Eltorai, Rare Diseases and Syndromes of the Spinal Cord,
DOI 10.1007/978-3-319-45147-3_119
119
Intramedullary Schwannoma Associated with Neurofibromatosis
119.1 Definition
The neurofi bromatoses are genetic disorders that cause tumors to grow in the nervous system. The tumors begin in the supporting cells that make up the nerves and
the myelin sheath--the thin membrane that envelops and protects the nerves. These
disorders cause tumors to grow on nerves and produce other abnormalities such as
skin changes and bone deformities.
A shwannoma, also known as neurilemoma or neuroma, is a benign, encapsu-
lated neoplasm in which the fundamental component is structurally identical to the
syncytium of Schwann cells; the neoplastic cells proliferate within the endoneurium, and perineurium forms the capsule. The neoplasm may originate from a
peripheral or sympathetic nerve, or from various cranial nerves, particularly the
eighth nerve; when the nerve is small, it is usually found (if at all) in the capsule of
the neoplasm; if the nerve is large, the schwannoma may develop within the sheath
of the nerve, the fi bers of which may then spread over the surface of the capsule as
the neoplasm enlarges. Microscopically, schwannomas are composed of combinations of two cell types, Antoni types A and B, either of which may be predominant
in various examples of schwannomas.
119.2 Incidence
According to the authors, there have only been 5 cases of intramedullary schwannoma in NF-1 and 6 cases in association with NF-2. Schwannomas constitute 1.1 %
of all the spinal schwannomas. The reviewed of reports of all the intramedullary
schwannomas up to 2004 showed 66 cases. Among all 66 cases reviewed,
Abstracted and reported by Siddiqui and Shah ( 2004 )
400
intramedullary schwannomas were seen in males/female ratio of 1.5. The ages of
patients ranged from 9 to 75 years (mean 41.5). Duration of symptoms ranged from
3 months to 20 years (mean 31.5 months) and varied with the location of the tumor.
Intramedullary schwannomas were most frequent in the cervical spinal cord (65 %),
followed by thoracic region (22 %), and lumbar region (10 %).
119.3 Etiology
There are no biochemical markers of the disorder, but the cloning of both the NF-1
and NF-2 genes makes DNA-based diagnosis possible in some families. Both genes
appear to be tumor suppressor genes. Both conditions are autosomal dominant, but
the variable penetrance and expressivity and high frequency of new mutations make
genetic counseling diffi cult.
119.4 Pathology
See above defi nition and also according to Siddiqui and Shah:
• late neoplastic development of ectopic Schwann cells originating from the
embryonic neural ridge during development;
• Schwann cells ensheathing aberrant intramedullary nerve fi bers;
• Schwann cells extending along the anterior spinal artery;
• neoplastic growth from Schwann cells at dorsal-root entry zone;
• transformation of pial cells of neuroectodormal origin into Schwann cells
119.5 Clinical Picture
All intradural schwannomas, with or without associated neurofi bromatosis, constitute 1.1 % of all spinal schwannomas. The tumor is manifested by pain, paresthesia,
weakness, eventually anesthesia, analgesia, and paresis, depending on the level i.e.,
tetraparesis or paraparesis. Neurological exam will reveal sensory loss and motor
paralysis of the upper motor neuron type. There will be the manifestation of NF-2 if
associated.
119.6 Diagnosis
Diagnosis is based on the following criteria:
MRI is the most useful diagnostic tool of intramedullary tumors. T-1 weighted
images of the tumor usually give hypointense signals compared to the spinal cord
itself. In T2-weighted images: the tumor usually shows hyperintensive signals with
occasional isointense or low signal areas. There is marked enhancement on post
119 Intramedullary Schwannoma Associated with Neurofi bromatosis
401
gadolinium images with well delineated margins. Occasionally there is associated
segmental syringomyelia. Differential diagnosis includes other intramedullary
tumors, e.g. ependymoma and astrocytoma.
119.7 Management
Ideal treatment is complete excision, which is neurosurgically challenging. The use
of real-time MRI, CO
2
-laser combined with somatosensory-evoked potential give
precision to completely removing tumor within its capsule using microsurgical
techniques only.
Reference
Siddiqui AA, Shah AA. Complete surgical excision of intramedullary schwannoma at the cranio-
vertebral junction in neurofi bromatosis type-2. Br J Neurosurg. 2004;18(2):193–6.
Reference
403
© Springer International Publishing Switzerland 2016
I.M. Eltorai, Rare Diseases and Syndromes of the Spinal Cord,
DOI 10.1007/978-3-319-45147-3_120
120
Secondary Syringomyelia due to Spinal Intramedullary Metastasis
120.1 Definition
This is a condition in which syringomyelia cavity results from an intramedullary
metastatic lesion.
120.2 Incidence
Intramedullary spinal metastases are relatively rare (1–2.1 %) (Keung et al.) of
advanced cancer. According to Surcin et al., the presence of syringomyelia due to
an intramedullary metastasis is very rare, in the last 30 years four cases have been
reported who added one case of their own; however, the cerebral metastasis account
for 20 %. In 1–2 % no primary is found, and the thoracic cord is more involved that
the cervical cord.
120.3 Etiology
Intramedullary metastatic causes of syringomyelia as a result of:
• mechanical origin: obstruction, which disturbs the normal cerebral spinal fl uid
circulation (hydrodynamic factor)
• excessive fl uid as an transudate or exudate from the vasculature of the tumor
• exudation from the tumor itself
• a multiplication of factors
Abstracted from Surcin et al. ( 2001 ) and Keung et al. ( 1997 )
404
120.4 Pathology
Syringomyelia is a neurologic disorder characterized by the presence of a fl uid collection in a cavity within the spinal cord. The fl uid collects more distal and less
proximal to the obstruction. As its tension increases it causes circumferential pressure on the spinal cord tracts and cells. According to Isoya et al., the autopsy study
of 627 patients with systemic cancer disclosed thirteen cases with intramedullary
spinal cord metastases. The lungs and the brests were the most common primary
tumors (54 % and 13 % respectively). The pathology depends on the primary lesion.
Statistically: pulmonary carcimoma (branchogenic) 49 %, the breast 14 %, lymphomas 9 %, melanomas 7.5 %, colon carcinoma 7 %, endometrial carcinoma 1.2 %
(Surcin et al.). From the primary lesion the spinal cord is involved via the venous
plexus and/or the arterial route. Regional involvement: cervical 27 %, thoracic 27 %
and lumbar 45 %.
120.5 Clinical Picture
The patient is known to have advanced cancer or had it previously treated. It may
manifest cervical myelopathy (Weitzner et al.) or thoracolumbar (Surcin et al.). The
manifestations are
• Pain in the back or extremities
• Parathesia, anesthesia
• Motor weakness of upper and lower extremities and eventual paralysis
• Increased muscle tone and exaggerated refl exes.
120.6 Diagnosis
Diagnosis is based on:
1. History of pulmonary malignancy
2. Neurological signs
3. MRI: Intramedullary tumors of the spinal cord, syringomyelia below the tumor,
and may be above it as well. Brain performed to rule out brain lesions (25 %)
4. CT: may so the tumor site and the syrinx
5. Scintigraphy for other metastases
6. search for primary tumor
7. CSF may show pleocytosis of white and red cells, erythrocytes, and leukocytes
120 Secondary Syringomyelia due to Spinal Intramedullary Metastasis
405
120.7 Management
The management of the primary tumor by radiation and/or chemotherapy.
Local treatment
• Radiotherapy: in selected cases had good results (Decker et al., Findlay et al.)
• Combination of radiotherapy and steroids (Keung et al.)
• Surgical treatement: usually not effective; however in long life expectancy it can
be tried; although no neurological recovery there was no recurrence after surgery
for 2 years (Isoya et al., Surcin et al.)
References
Keung YK, Cobos E, Whitehead RP, Roberson GH. Secondary syringomyelia due to intramedul-
lary spinal cord metastasis. Case report and review of literature. Am J Clin Oncol.
1997;20(6):577–9.
Surcin B, Bersani D, Lippa A, Tauzin C, Quenel-tueux N. Intramedullary metastases and syringo-
myelic cavities. J Radiol. 2001;82(6 Pt 1):673–5.
References
407
© Springer International Publishing Switzerland 2016
I.M. Eltorai, Rare Diseases and Syndromes of the Spinal Cord,
DOI 10.1007/978-3-319-45147-3_121
121
Spinal Hemangioblastomas in Von Hippel Lindau Disease
121.1 Definition
von Hippel Lindau disease (VHL) is an autosomal dominant hereditary disease in
which the CNS and retinal hemangioblastomas, renal cell carcinoma, pheocromocytoma, abdominal cystic masses e.g. in the kidney, liver, pancreas, and epididymal
cysts may develop. VHL disease manifests itself by 65 years of age. The annual
incidence is 1/36,000 live births. In the brain its manifestations are in the cerebellum, brain stem, spinal cord and suprasellar hemangioblastomas and endolymphatic
sac tumors.
121.2 Incidence
60–80 % of patients with VHL disease manifest hemangioblastomas in the CNS
(cerebellum, brain stem, and spinal cord). Spinal cord hemangioblastoma are most
common after the cerebellar hemangioblastoma, accounting for 40 % of VHLassociated CNS lesions.
121.3 Etiology
The causative gene is located in the chromosome 3p25-26 region, also related to the
occurrence of sporadic hemangioblastoma of the CNS and also the renal cell
carcinoma.
Abstracted from Kanno et al. ( 2009 ) and Mehta et al. ( 2010 )