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Resection of liver metastases from gynaecological tumours is uncommon. Endometrial stromal sarcomas (ESS) are low incidence gynecological tumours which can originate in previous sites of endometriosis or following metaplasia of the pelvic peritoneal wall, and which are exceptionally associated with liver metastasis. We present a 68-year-old woman with a ESS and metachronic liver metastasis treated by liver resection. There is very little literature on clinical management about liver metastasis from ESS, but extrapolating the data obtained with liver metastasis from sarcomas and uterine tumours, we should recommend resection as this is considered a resectable extrauterine metastasis. In cases with more sites of extrauterine disease, liver resection should also be performed if the other sites are resectable.

Pulmonary metastases of uterine endometrial stromal sarcoma (ESS) are uncommon. The patterns of uterine ESS metastasis to the lung are multiple pulmonary nodules, single nodule, or cystic lesions. Pulmonary intraalveolar micronodular metastases of uterine ESS are unusual and have not been reported. We experienced a case of metastatic uterine ESS presenting as pulmonary diffuse micronodules with ground glass opacities on chest computed tomography of a 37-yr-old woman who previously underwent hysterectomy due to low grade ESS of the uterus four years ago. The histologic findings of video assisted thoracotomy biopsy showed numerous intraalveolar polypoid micronodules protruding from the alveolar septums. All tumor nodules were composed of short spindle cells arranged in ill-defined whorls, and nuclear feature and sparse cytoplasm were seen in uterine ESS. Immunohistochemically, these cells showed strong nuclear staining for estrogen receptor and progesterone receptor, and diffuse cytoplasmic staining for CD10.

Endometrial stromal sarcoma (ESS) is a rare malignant tumor of the endometrium, occurring in the age group of 40–50 years. This is a case of low-grade ESS presenting as rapid enlargement of a fibroid uterus. Because of her secondary infertility, she was planned for myomectomy. However, due to the high degree of suspicion of a sarcomatous change in the fibroid, in view of rapid enlargement of uterus within the last 4 months, we planned for a preoperative endometrial aspiration. It showed low-grade ESS, which was later confirmed by histopathology examination of total hysterectomy specimen. As surgery was the main treatment for ESS, because of the proper preoperative diagnosis, we could plan the treatment accordingly. Despite the rarity of the tumor, one has to consider the possibility of ESS in cases with presentation of rapid enlargement of a fibroid uterus.

Endometrial stromal sarcoma (ESS) is a mesenchymal neoplasm that usually occurs as a primary tumor of the uterine corpus, but rarely arises in other sites, such as the ovary, pelvic cavity, mesentery, omentum and intestine. Herein, we present a rare case of low-grade ESS presented as prevesical mass. A 60-yr-old woman who had undergone total hysterectomy for endometriosis eleven years ago was presented with incidentally detected prevesical pelvic mass. Since malignant transformation of urachal remnants was possible, the mass was suspected to be a urachal tumor. Extraction of the mass was performed, and the histopathologic diagnosis was low-grade ESS. In summary, prevesical tumor is rare but in patients with endometriosis, we suggest endometriosis and its possible malignant changes should be taken into account in the differential diagnosis of prevesical mass.

The objective of this study is to assess the therapeutic importance of surgical castration, adjuvant hormonal treatment and lymphadenectomy in endometrial stromal sarcoma (ESS). A retrospective and multicentric search was performed. Clinicopathologic data were retrieved from cases that were confirmed to be ESS after central pathology review. The protocol was approved by the Ethical Committee. ESS was confirmed histopathologically in 34 women, but follow-up data were available in only 31 women. Surgical treatment (n=31) included hysterectomy with or without bilateral salpingo-oophorectomy (BSO) in 23 out of 31 (74%) and 8 out of 31 (26%) cases, respectively. Debulking surgery was performed in 6 out of 31 cases (19%). Stage distribution was as follows: 22 stage I, 4 stage III and 5 stage IV. Women with stage I disease recurred in 4 out of 22 (18%) cases. Among stage I women undergoing hormonal treatment with or without BSO, 3 out of 15 (20%) and 1 out of 7 (14%) relapsed, respectively. Among stages III–IV women receiving adjuvant hormonal treatment or not, 1 out of 5 (20%) and 3 out of 4 (75%) relapsed, respectively (differences=55.0%, 95% CI=−6.8–81.2%). Kaplan–Meier curves show comparable recurrence rates for stage I disease without adjuvant hormonal treatment when compared to stages III–IV disease treated with surgery and adjuvant hormonal treatment. Furthermore, women taking hormones at diagnosis have a better outcome when compared to women not taking hormonal treatment. Three out of 31 (9%) patients had a systematic lymphadenectomy whereas 3 out of 31 (9%) had a lymph node sampling. In one case, obvious nodal disease was encountered at presentation. Isolated retroperitoneal recurrence occurred in 1 out of 31 (3%) of all cases and in 1 out of 8 (13%) recurrences. This single woman later also developed lung and abdominal metastases. Leaving lymph nodes in situ does not appear to alter the clinical outcome of ESS. Although numbers are low, the retrospective data suggest that the need for surgical castration (BSO) in premenopausal women with early-stage disease should be discussed with the patient on an individual basis. The data support the current practice in some centres to administer adjuvant hormonal treatment.

Endometrial stromal sarcoma (ESS) is a relatively rare uterine sarcoma, especially extrauterine ESS. Furthermore, retroperitoneal ESS are extremely rare. Up to now, there are only four cases of primary retroperitoneal ESS reported in the literature. We report one case of primary retroperitoneal undifferentiated endometrial stromal sarcoma after concurrent chemoradiation therapy for cervical cancer with a brief review of the literature.

Endometrial stromal sarcoma (ESS) formerly classified as low-grade endometrial stromal sarcoma is a rare uterine malignancy with a good prognosis despite a tendency to recur. Primary surgical management for ESS includes total abdominal hysterectomy and bilateral salpingo-oophorectomy. Patients with ESS have long disease-free survival rates when treated with primary surgical therapy, but nearly fifty percent of these patients will recur. We present the case of a patient with recurrent ESS who had an excellent response to combined therapy with megestrol and leuprolide.

A 61-year-old man who had been diagnosed with prostate cancer 9 years ago and had been treated with pelvic irradiation and intermittent androgen deprivation therapy visited the emergency room because of back pain and weakness in both legs. Spine magnetic resonance imaging showed a lumbar epidural mass and spine metastasis. The whole-body workup revealed multiple metastases to the lymph nodes, bone, liver, and lung. The serum prostate-specific antigen was 0.02 ng/ml. He underwent laminectomy, posterior fixation, and epidural mass excision, and metastatic adenocarcinoma from the prostate was diagnosed. The patient underwent 1 cycle of docetaxel-based chemotherapy. More chemotherapy could not be done because of his general weakness. The patient died one month later of multiple organ failure.

Background

Endometrial stromal sarcoma (ESS) is a rare disease with probably less than 700 new cases in the USA or Europe per year. The aim of this study was to evaluate the behavior of low-grade endometrial stromal sarcoma (LGESS) in relation to their clinical and pathological features and to identify possible prognostic factors.

Patients and methods

Fourteen patients with histologically proven ESS were included in the analysis. Endometrial stromal sarcoma is characterized by proliferations composed of cells with Endometrial stromal cell differentiation. Low-grade endometrial stromal sarcoma has an infiltrating margin and typically show extensive worm-like vessel invasion.

Results

The median age was 44.35 ± 6 years. The most common presenting symptom was vaginal bleeding, occurring in twelve patients (86%). Diagnosis was made through Fractional dilatation and curettage in four patients (28.5%). Eight patients had a total abdominal hysterectomy and salpingo-ophorectomy (57%). Radiotherapy as adjuvant therapy was administered to four patients (28.5%). The median follow-up time was 45.6 months (range 24–84). The median overall survival of the 14 patients was 45.35 ± 21 months (range 20–83). Three of 14 patients demonstrated a recurrence of disease at 9, 72, and 96 months respectively. The recurrent diseases were treated with surgery, chemotherapy, and radiotherapy. No patient died of the disease. Clinico-pathological parameters did not significantly differ between patients with and without recurrence, but patients with no myometrial invasion and low mitotic count <= 5/HPF showed longer disease-free survival.

Conclusion

Five-year survival rate was 93%. Survival probabilities were calculated by the product limit method of Kaplan and Meier that showed, patients with no myometrial invasion and low mitotic count <= 5/HPF have longer disease-free survival, but P value was not significant.

Needle electromyography (EMG) is used for the diagnosis of a neural injury in patients with a cervical/lumbar radiculopathy, plexopathy, peripheral neuropathy, or myopathy. Needle EMG is a particularly invasive test and thus it is important to minimize the pain during inspections. In this paper, we introduce the Electrodiagnosis Support System (ESS), which is a clinical decision support system specialized for neural injury diagnosis in the upper limb. ESS can guide users through the diagnosis process and assist them in making the optimal decision for minimizing unnecessary inspections and as an educational tool for medical trainees. ESS provides a graphical user interface that visualizes the neural structure of the upper limb, through which users input the results of needle EMG tests and retrieve diagnosis results. We validated the accuracy of the system using the diagnosis records of 133 real patients.

The development of endometrial stromal sarcomas (ESSs) in foci of endometriosis is extremely rare, and few cases have been reported in the literature to date, particularly with regard to multiple extrauterine ESS. Here we report a case of endometrial stromal sarcoma with multiple metastasis that arose from an ovarian endometriotic lesion. The literature is also briefly reviewed.

We present a case of 24-year-old male presented with low back pain radiating to the left lower limb, tingling numbness and weakness of 6 months duration. Magnetic resonance imaging scan with contrast reveals an extradural mass at lumbosacral region. Patient was operated with laminectomy and complete excision of the lesion was done. Patient's radicular pain relieved following the surgery and weakness also improved. Histopathology was suggestive of non-Hodgkin's lymphoma. Patient received chemotherapy which was followed by radiotherapy. Primary Non-Hodgkin's lymphoma of the lumbosacral spinal epidural tissue is an uncommon lesion. Lymphoma involves the central nervous system in 5-11% of cases either at presentation of the disease or during its course. The spinal epidural tissue is involved primarily in 0.1-3.3% of cases with spinal cord compression being the commonest presentation. Excision of the lesion followed by chemotherapy and radiotherapy is required to achieve cure.

Ewing's sarcoma is the second most common malignant bone tumor in children and adolescents. The 4 cases described in this study were diagnosed with dumbbell-shaped intraspinal and extraspinal Ewing's sarcomas. The incidence of dumbbell-shaped tumors of this type in the spine is 17.5%. These tumors are often misdiagnosed as neurogenic tumors (schwannoma, neurofibromatosis) or giant cell tumors based on imaging. Radiculopathy is more common than spinal cord compression in Ewing's sarcoma. Preoperative biopsy is strongly recommended. As soon as Ewing's sarcoma is diagnosed by pathology, the treatment should begin with 2–3 cycles of neoadjuvant chemotherapy. Anterior-posterior and posterolateral approaches are both recommended for exposing this tumor. Following surgery, chemotherapy is critical to lessen the rate of recurrence and metastasis and to prolong the survival time. However, radiotherapy should be used with caution, as the spinal cord is sensitive to radiation; local irradiation is suggested. The tumor is difficult to remove en bloc in the cervical spine. It has a high rate of recurrence and metastasis. Therefore, the prognosis of Ewing's sarcoma in the cervical region is poorer compared to that in the thoracic and lumbosacral regions.

Purpose

Radiotherapy (XRT) for spine sarcomas is constrained by spinal cord, nerve, and viscera tolerance. Negative surgical margins are uncommon; hence, doses of ≥ 66 Gy are recommended. A Phase II clinical trial evaluated high dose photon/proton XRT for spine sarcomas.

Materials/Methods

Eligible patients had non-metastatic, thoracic, lumbar, and/or sacral spine/paraspinal sarcomas. Treatment included pre- and/or post-op photon/proton XRT +/- radical resection; patients with osteosarcoma and Ewing's sarcoma received chemotherapy. Shrinking fields delivered 50.4 cobalt Gray equivalent (GyRBE) to subclinical disease, 70.2 GyRBE to microscopic disease in the tumor bed, and 77.4 GyRBE to gross disease at 1.8 GyRBE q.d. Doses were reduced for radiosensitive histologies, concurrent chemoradiation, or when diabetes or autoimmune disease present. Spinal cord dose was limited to 63/54 GyRBE to surface/center. Intra-operative boost doses of 7.5-10 Gy could be given by dural plaque.

Results

50 patients (29 chordoma, 14 chondrosarcoma, 7 other) underwent gross total (n=25) or subtotal (n=12) resection or biopsy (n=13). With 48 month median follow-up, five-year actuarial local control, recurrence-free survival, and overall survival are: 78%, 63%, and 87% respectively. Two of 36 (5.6%) patients treated for primary versus 7/14 (50%) for recurrent tumor developed local recurrence, p<0.001. Five patients developed late radiation-associated complications; no myelopathy developed but three sacral neuropathies appeared following 77.12-77.4 GyRBE.

Conclusions

Local control with this treatment is high in patients radiated at the time of primary presentation. Spinal cord dose constraints appear to be safe. Sacral nerves receiving 77.12-77.4 GyRBE are at risk for late toxicity.

A 57-year-old man presented with weakness in both legs upon awakening after drinking. Magnetic resonance imaging (MRI) of the lumbar spine did not reveal any intraspinal abnormalities but MRI of the pelvis revealed lesions with abnormal intensities with heterogeneous contrast enhancement in both gluteal muscles. Serum creatine phosphokinase was markedly elevated. A diagnosis of lumbosacral plexopathy, complicating rhabdomyolysis was made. With supportive care he recovered well but mild weakness of the right ankle remained at 6 month-follow-up. Pelvic MRI is a helpful diagnostic tool in localizing rhabdomyolysis. Lumbosacral plexopathy should be included in the differential diagnosis of the such cases, presenting with sudden weakness of legs.

A 63-year-old female with a well-vascularized pulmonary metastasis of an endometrial stromal sarcoma (ESS) of 6×6 cm received selective embolization with 150–250 μm polyvinyl alcohol (Contour; Boston Scientific, Natick, MA, USA) via a bronchial artery. Post-interventional loss of perfusion was qualitatively estimated to be >80%. The lesion was located in direct proximity to the pulmonary hilar vessels. Owing to recurrent and sudden hemoptyses, an interdisciplinary tumor board assessed the risk of life-threatening blood loss to be greater than that of angiography with particle embolization and agreed on an endovascular approach. Hemoptysis did not recur in a follow-up period of six months. Initial clinical symptoms were noted 25 years ago. However, establishing a definite diagnosis has, for a long time, remained a histopathological challenge.

Objective

The study was performed to present the sonographic findings of uterine endometrial stromal sarcoma (ESS).

Materials and Methods

We conducted a retrospective review of sonographic findings of 10 cases that were diagnosed as uterine ESS. The patients' ages ranged from 25 to 51 years (mean age: 36.1 years). The reviews focused on the location, margin, size, number and echotexture of the lesions. Hysterectomy (n = 9) and myomectomy (n = 1) were performed and a pathologic diagnosis was obtained in all cases.

Results

The masses were located in the uterine wall (n = 6), or they presented as a polypoid mass protruding into the endometrial cavity from the myometrium (n = 3) or as a central cavity mass (n = 1). The lesion margins were smooth (n = 5), ill defined (n = 2), or smooth with partially nodular extensions (n = 3). The maximal mass length was 38 mm to 160 mm with a mean mass length of 83.5 mm. There were single lesions in eight cases and multiple lesions in two cases. The lesion echotextures were hypoechoic solid (n = 3), heterogeneously intermediate echoic (n = 5), diffuse myometrial thickening with heterogeneous echogenicity (n = 1) and septated cystic (n = 1).

Conclusion

Endometrial stromal sarcoma presents with four patterns of its sonographic appearance; a polypoid mass with nodular myometrial extension, an intramural mass with an ill defined margin and heterogeneous echogenicity, an ill defined large central cavity mass or, diffuse myometrial thickening.

High-grade endometrial stromal sarcomas (ESSs) are an aggressive group of endometrial stromal tumors. A recent study described a recurrent chromosomal translocation (t(10;17)) occurring in ESS, which joins the gene 14-3-3ε with either FAM22A or FAM22B. Expression of the resulting fusion gene leads to malignant transformation, and silencing of its expression reverses the malignant phenotype. Because the fusion can be readily detected in diagnostic samples using fluorescent in situ hybridization, this chromosomal aberration could be used to differentiate high-grade ESS from the low-grade, less aggressive form. Discovery of the new oncoprotein could also provide entry points for targeted therapies.

Introduction

Complete resection is the most important prognostic factor in surgery for pelvic tumors. In locally advanced and recurrent pelvic malignancies, radical margins are sometimes difficult to obtain because of close relation to or growth in adjacent organs/structures. Total pelvic exenteration (TPE) is an exenterative operation for these advanced tumors and involves en bloc resection of the rectum, bladder, and internal genital organs (prostate/seminal vesicles or uterus, ovaries and/or vagina).

Methods

Between 1994 and 2008, a TPE was performed in 69 patients with pelvic cancer; 48 with rectal cancer (32 primary and 16 recurrent), 14 with cervical cancer (1 primary and 13 recurrent), 5 with sarcoma (3 primary and 2 recurrent), 1 with primary vaginal, and 1 with recurrent endometrial carcinoma. Ten patients were treated with neoadjuvant chemotherapy and 66 patients with preoperative radiotherapy to induce down-staging. Eighteen patients received IORT because of an incomplete or marginal complete resection.

Results

The median follow-up was 43 (range, 1–196) months. Median duration of surgery was 448 (range, 300–670) minutes, median blood loss was 6,300 (range, 750–21,000) ml, and hospitalization was 17 (range, 4–65) days. Overall major and minor complication rates were 34% and 57%, respectively. The in-hospital mortality rate was 1%. A complete resection was possible in 75% of all patients, a microscopically incomplete resection (R1) in 16%, and a macroscopically incomplete resection (R2) in 9%. Five-year local control for primary locally advanced rectal cancer, recurrent rectal cancer, and cervical cancer was 89%, 38%, and 64%, respectively. Overall survival after 5 years for primary locally advanced rectal cancer, recurrent rectal cancer, and cervical cancer was 66%, 8%, and 45%.

Conclusions

Total pelvic exenteration is accompanied with considerable morbidity, but good local control and acceptable overall survival justifies the use of this extensive surgical technique in most patients, especially patients with primary locally advanced rectal cancer and recurrent cervical cancer.

Background and aims

Colonic afferents project to the lumbosacral and thoracolumbar spinal cord via the pelvic and hypogastric/lumbar colonic nerves, respectively. Both spinal regions process inflammatory colonic stimuli. The role of thoracolumbar segments in processing acute colorectal pain is questionable, however, since the lumbosacral spinal cord appears sufficient to process reflex responses to acute pain. Here we demonstrate that activity in pelvic nerve colonic afferents actively modulates thoracolumbar dorsal horn neuron processing of the same colonic stimulus via a supraspinal loop: homovisceral descending modulation.

Methods

Dorsal horn neurons were recorded in the rat thoracolumbar spinal cord following acute or chronic pelvic neurectomy and cervical cold block.

Results

Acute pelvic neurectomy or lidocaine inhibition of lumbosacral dorsal roots facilitated the excitatory response of thoracolumbar dorsal horn neurons to colorectal distention (CRD) and decreased the percentage of neurons inhibited by CRD, suggesting colonic input over the pelvic nerve inhibits thoracolumbar processing of the same stimulus. Ectopic activity developed in the proximal pelvic nerve following chronic neurectomy reactivating the inhibitory circuit, inhibiting thoracolumbar neurons. Cervical cold block alleviated the inhibition in intact or chronic neurectomized rats. However, the facilitated response following acute pelvic neurectomy was inhibited by cervical cold block exposing an underlying descending facilitation. Inhibiting pelvic nerve input following cervical cold block had minimal effect.

Conclusion

These data demonstrate that input over the pelvic nerve modulates the response of thoracolumbar spinal neurons to CRD via a supraspinal loop, and that increasing thoracolumbar processing increases visceral hyperalgesia.

Large lumbosacral disc herniations effacing both the paramedian and the foraminal area often cause double radicular compression. Surgical management of these lesions may be difficult. A traditional interlaminar approach usually brings into view only the paramedian portion of the intervertebral disc, unless the lateral bone removal is considerably increased. Conversely, the numerous far-lateral approaches proposed for removing foraminal or extraforaminal disc herniations would decompress the exiting nerve root only. Overall, these approaches share the drawback of controlling the neuroforamen on one side alone. A combined intra-extraforaminal exposure is a useful yet rarely reported approach. Over a 3-year period, 15 patients with bi-radicular symptoms due to large disc herniations of the lumbar spine underwent surgery through a combined intra-extracanal approach. A standard medial exposure with an almost complete hemilaminectomy of the upper vertebra was combined with an extraforaminal exposure, achieved by minimal drilling of the inferior facet joint, the lateral border of the pars interarticularis and the inferior margin of the superior transverse process. The herniated discs were removed using key maneuvers made feasible by working simultaneously on both operative windows. In all cases the disc herniation could be completely removed, thus decompressing both nerve roots. Radicular pain was fully relieved without procedure-related morbidity. The intra-extraforaminal exposure was particularly useful in identifying the extraforaminal nerve root early. Early identification was especially advantageous when periradicular scar tissue hid the nerve root from view, as it did in patients who had undergone previous surgery at the same site or had long-standing radicular symptoms. Controlling the foramen on both sides also reduced the risk of leaving residual disc fragments. A curved probe was used to push the disc material outside the foramen. In conclusion, specific surgical maneuvers made feasible by a simultaneous extraspinal and intraspinal exposure allow quick, safe and complete removal of lumbosacral disc herniations with paramedian and foraminal extension.

Objective

The purpose of this case series is to describe the chiropractic management of 21 patients with daily stress and occasional total urinary incontinence (UI).

Clinical Features

Twenty-one case files of patients 13 to 90 years of age with UI from a chiropractic clinic were reviewed. The patients had a 4-month to 49-year history of UI and associated muscle dysfunction and low back and/or pelvic pain. Eighteen wore an incontinence pad throughout the day and night at the time of their appointments because of unpredictable UI.

Intervention and Outcome

Patients were evaluated for muscle impairments in the lumbar spine, pelvis, and pelvic floor and low back and/or hip pain. Positive manual muscle test results of the pelvis, lumbar spine muscles, and pelvic floor muscles were the most common findings. Lumbosacral dysfunction was found in 13 of the cases with pain provocation tests (applied kinesiology sensorimotor challenge); in 8 cases, this sensorimotor challenge was absent. Chiropractic manipulative therapy and soft tissue treatment addressed the soft tissue and articular dysfunctions. Chiropractic manipulative therapy involved high-velocity, low-amplitude manipulation; Cox flexion distraction manipulation; and/or use of a percussion instrument for the treatment of myofascial trigger points. Urinary incontinence symptoms resolved in 10 patients, considerably improved in 7 cases, and slightly improved in 4 cases. Periodic follow-up examinations for the past 6 years, and no less than 2 years, indicate that for each participant in this case-series report, the improvements of UI remained stable.

Conclusion

The patients reported in this retrospective case series showed improvement in UI symptoms that persisted over time.

To determine independent prognostic factors for the survival of patients with endometrial stromal sarcoma (ESS), data were abstracted from the Surveillance, Epidemiology, and End Results (SEER) database of the National Cancer Institute from 1988 to 2003. Kaplan–Meier and Cox proportional hazards models were used for analyses. Of 831 women diagnosed with ESS, the median age was 52 years (range: 17–96 years). In total, 59.9% had stage I, 5.1% stage II, 14.9% stage III, and 20.1% had stage IV disease. Overall, 13.0, 36.1, and 34.7% presented with grades 1, 2, and 3, respectively. Patients with stage I–II vs III–IV disease had 5 years DSS of 89.3% vs 50.3% (P<0.001) and those with grades 1, 2, and 3 cancers had survivals of 91.4, 95.4, and 42.1% (P<0.001). In multivariate analysis, older patients, black race, advanced stage, higher grade, lack of primary surgery, and nodal metastasis were independent prognostic factors for poorer survival. In younger women (<50 years) with stage I–II disease, ovarian-sparing procedures did not adversely impact survival (91.9 vs 96.2%; P=0.1). Age, race, primary surgery, stage, and grade are important prognostic factors for ESS. Excellent survival in patients with grade 1 and 2 disease of all stages supports the concept that these tumors are significantly different from grade 3 tumors. Ovarian-sparing surgeries may be considered in younger patients with early-stage disease.

Rearrangement of chromosome band 6p21 is recurrent in endometrial stromal sarcoma (ESS) and targets the PHF1 gene. So far, PHF1 was found to be the 3′ partner in the JAZF1-PHF1 and EPC1-PHF1 chimeras but since the 6p21 rearrangements involve also other chromosomal translocation partners, other PHF1-fusions seem likely. Here, we show that PHF1 is recombined with a novel fusion partner, MEAF6 from 1p34, in an ESS carrying a t(1;6)(p34;p21) translocation as the sole karyotypic anomaly. 5′-RACE, RT-PCR, and sequencing showed the presence of an MEAF6-PHF1 chimera in the tumor with exon 5 of MEAF6 being fused in-frame to exon 2 of PHF1 so that the entire PHF1 coding region becomes the 3′ terminal part of the MEAF6-PHF1 fusion. The predicted fusion protein is composed of 750 amino acids and contains the histone acetyltransferase subunit NuA4 domain of MEAF6 and the tudor, PHD zinc finger, and MTF2 domains of PHF1. Although the specific functions of the MEAF6 and PHF1 proteins and why they are targeted by a neoplasia-specific gene fusion are not directly apparent, it seems that rearrangement of genes involved in acetylation (EPC1, MEAF6) and methylation (PHF1), resulting in aberrant gene expression, is a common theme in ESS pathogenesis.

Background:

Spinal fusion is the most rapidly increasing type of lumbar spine surgery for various lumbar degenerative pathologies. The surgical treatment of lumbar spine degenerative disc disease may involve decompression, stabilization, or arthroplasty procedures. Lumbar disc athroplasty is a recent technological advance in the field of lumbar surgery. This study seeks to determine the clinical impact of anterior lumbar disc replacement on the surgical treatment of lumbar spine degenerative pathology. This is a retrospective assessment of the Nationwide Inpatient Sample (NIS).

Methods:

The NIS was searched for ICD-9 codes for lumbar and lumbosacral fusion (81.06), anterior lumbar interbody fusion (81.07), and posterolateral lumbar fusion (81.08), as well as for procedure codes for revision fusion surgery in the lumbar and lumbosacral spine (81.36, 81.37, and 81.38). To assess lumbar arthroplasty, procedure codes for the insertion or replacement of lumbar artificial discs (84.60, 84.65, and 84.68) were queried. Results were assayed from 2000 through 2008, the last year with available data. Analysis was done using the lme4 package in the R programming language for statistical computing.

Results:

A total of nearly 300,000 lumbar spine fusion procedures were reported in the NIS database from 2000 to 2008; assuming a representative cross-section of the US health care market, this models approximately 1.5 million procedures performed over this time period. In 2005, the first year of its widespread use, there were 911 lumbar arthroplasty procedures performed, representing 3% of posterolateral fusions performed in this year. Since introduction, the number of lumbar spine arthroplasty procedures has consistently declined, to 653 total procedures recorded in the NIS in 2008. From 2005 to 2008, lumbar arthroplasties comprised approximately 2% of lumbar posterolateral fusions. Arthroplasty patients were younger than posterior lumbar fusion patients (42.8 ± 11.5 vs. 55.9 ± 15.1 years, P < 0.0000001). The distribution of arthroplasty procedures was even between academic and private urban facilities (48.5% and 48.9%, respectively). While rates of posterolateral lumbar spine fusion steadily grew during the period (OR 1.06, 95% CI: 1.05-1.06, P < 0.0000001), rates of revision surgery and anterior spinal fusion remained static.

Conclusions:

The impact of lumbar arthroplasty procedures has been minimal. Measured as a percentage of more common lumbar posterior arthrodesis procedures, lumbar arthroplasty comprises only approximately 2% of lumbar spine surgeries performed in the United States. Over the first 4 years following the Food and Drug Administration (FDA) approval, the frequency of lumbar disc arthroplasty has decreased while the number of all lumbar spinal fusions has increased.