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PubMed2006

Chronic paroxysmal hemicrania presenting as recurrent orbital inflammation.

Patients with chronic headache associated with ocular symptoms regularly seek ophthalmologists' opinions. We report an unusual case of chronic paroxysmal hemicrania (CPH), a rare but well-described variant of cluster headache in a female presenting to an eye department with recurrent episodes of severe unilateral periorbital swelling with a chronic history of headaches. Clinical features, review of literature, and therapeutic response to indomethacin helped to establish the diagnosis as CPH. This is the first report of severe orbital inflammation with CPH to our knowledge.

Adult↗
PubMed1981

The surgical management of primary hyperparathyroidism: a personal series.

Primary hyperparathyroidism includes a spectrum of abnormalities relative to the size and histologic characteristics of the diseased glands. The lack of uniform agreement upon pathological interpretation and discrepancies between gross and histologic findings perpetuate the controversy regarding the mass of parathyroid tissue necessary to be resected. From 1960 to 1978, 193 primary hyperparathyroid patients (aged 20-80 years; mean: 55 years) were operated on by the senior author with a mean follow-up of 41.5 months. An approach evolved that included gross identification of all parathyroid tissue with frozen section confirmation and assessment of cellularity-the latter modifying the extent of parathyroid resection in 11 patients (11%) of 100 patients who had biopsies of at least four parathyroids. Overall persistence and recurrence rates of hypercalcemia were 6.2% (12 patients) and 1% (two patients), respectively, despite routine biopsy in 100 patients. No permanent hypocalcemia developed, but five patients (2.6%) were hypocalcemia one to 16 weeks postoperatively. No operative deaths occurred. Submission of additional parathyroid tissue by routine biopsy disclosed a higher prevalence of nodular hyperplasia than usually found, and the clinical significance of this finding is discussed. With findings based on gross and microscopic intraoperative study, the authors believe, the surgeon is better able to categorize pathologic variants of hyperparathyroidism and better equipped to deal with recurrent disease.

Adult↗
PubMed2006

Postural visual obscurations in patients with inactive thyroid eye disease; a variant of 'hydraulic' disease.

AIM: This investigation newly describes the characteristics and treatment for a group of patients with inactive thyroid eye disease who presented with recurrent transient visual obscuration, generally related to sudden changes in posture. STUDY DESIGN: A retrospective case-note review of an unmatched case series. PATIENTS AND METHODS: Clinical records were reviewed for patients with thyroid eye disease, presenting to the Orbital Clinic at Moorfields Eye Hospital with recurrent transient visual obscuration. All patients underwent orbital decompression and the response to this, and other, treatment was reviewed. RESULTS: Six patients (five female) presented to the Orbital Clinic, between the ages of 43 and 66 years (mean 54.7; median 52 years), with recurrent visual obscurations related to postural changes. Transient obscurations had been noted for between 3 weeks and 2 months, the patients having had symptoms of underlying thyroid eye disease for between 6 and 18 months. Five patients had diabetes for between 2 and 45 years, four being controlled with insulin and one with metformin. All patients had increased orbital tension on clinical assessment, intraocular pressures were raised in 5/6, and the optic disc in affected eyes was markedly swollen (with bilateral choroidal folds in two patients). Hertel exophthalmometry ranged from 22 to 27 mm, and there was a global reduction in ocular ductions in all. Bilateral orbital decompression was performed in all patients, although sequentially in one patient: 4/6 patients had three-wall decompression with an average proptosis reduction of 5.8 mm (range 2-8 mm; eight orbits) and 2/6 had decompression of the medial wall and floor alone (mean reduction 6.8 mm, range 5-8 mm; four orbits). In all patients, there was an almost immediate cessation of obscurations, together with a subjective and objective improvement in various visual functions. Optic disc swelling resolved over a few weeks after surgery. CONCLUSION: The 'hydraulic' variant of thyroid eye disease-characterised by high orbital apex pressures, with secondarily raised episcleral venous and intraocular pressures-may be linked with certain orbital shapes, such as that of Asians. This variant can present with recurrent visual obscuration associated with transient postural hypotension, especially in diabetics-this possibly being due to a microvasculopathy of the orbital or optic nerve circulation.

Adult↗
PubMed2004

[Sclerosing epithelioid fibrosarcoma: a clinicopathologic study of eight cases].

OBJECTIVE: To study the clinicopathologic features, immunophenotype and differential diagnosis of sclerosing epithelioid fibrosarcoma (SEF). METHODS: Eight cases of SEF were investigated by light microscopy and immunohistochemistry. RESULTS: There were five males and three females. Clinically, most patients presented as a slowly growing mass. Six tumors were located in the extremities or limb girdles, and two in the trunk. Grossly, most lesions were relatively well-circumscribed with a nodular or lobulated appearance. They ranged from 2.0 to 10.5 cm in size (mean 6 cm). On sectioning, they had a gray-whitish cut surface and were firm in consistency. Microscopically, the tumors were composed of uniformly round or polygonal epithelioid cells with clear to eosinophilic cytoplasm. The tumor cells were arranged predominantly in single strands or cords and embedded in a heavily hyalinized matrix. In some areas, nests, sheets, acini or alveolar structures were also noted. Nuclei atypia and brisk mitotic activity was not evident. The mitotic count measured less than 1 per 10 high power fields. However in two cases, focal areas exhibited increased cellularity, nuclei atypia and higher mitotic activity, resembling conventional fibrosarcoma. Immunohistochemically, the tumor cells showed diffuse and strong positivity for vimentin and focal or weak positivity for EMA. There was no expression for AE1/AE3, S-100 protein, HMB45, alpha-SMA, MSA, desmin, CD34, bcl-2, CD30 and LCA. Follow-up information in six patients revealed local recurrence in 3 cases and lung metastasis in 1 case. CONCLUSIONS: SEF is a rare variant of fibrosarcoma. Despite the relatively bland appearance and low mitotic activity, the tumor is capable of local recurrence and distant metastasis. Thus, it should be considered and treated as a low to intermediate grade sarcoma. SEF needs to be differentiated from a variety of benign or malignant tumors exhibiting epithelioid features and sclerotic stromal response.

Adult↗
PubMed2002

Ten-year outcome including patterns of failure and toxicity for adjuvant whole abdominopelvic irradiation in high-risk and poor histologic feature patients with endometrial carcinoma.

PURPOSE: To evaluate the long-term results of treatment using adjuvant whole abdominal irradiation (WAPI) with a pelvic/vaginal boost in patients with Stage I-III endometrial carcinoma at high risk of intra-abdominopelvic recurrence, including clear cell (CC) and serous-papillary (SP) histologic features. METHODS AND MATERIALS: In a prospective nonrandomized trial, 119 patients were treated with adjuvant WAPI between November 1981 and April 2000. All patients were analyzed, including those who did not complete therapy. The mean age at diagnosis was 66 years (range 39-88). Thirty-eight patients (32%) had 1989 FIGO Stage I-II disease and 81 (68%) had Stage III. The pathologic features included the following: 64 (54%) with deep myometrial invasion, 48 (40%) with positive peritoneal cytologic findings, 69 (58%) with high-grade lesions, 21 (18%) with positive pelvic/para-aortic lymph nodes, and 44 (37%) with SP or CC histologic findings. RESULTS: The mean follow-up was 5.8 years (range 0.2-14.7). For the entire group, the 5- and 10-year cause-specific survival (CSS) rate was 75% and 69% and the disease-free survival (DFS) rate was 58% and 48%, respectively. When stratified by histologic features, the 5- and 10-year CSS rate for adenocarcinoma was 76% and 71%, and for serous papillary/CC subtypes, it was 74% and 63%, respectively (p = 0.917). The 5- and 10-year DFS rate for adenocarcinoma was 60% and 50% and was 54% and 37% serous papillary/CC subtypes, respectively (p = 0.498). For surgical Stage I-II, the 5-year CSS rate was 82% for adenocarcinoma and 87% for SP/CC features (p = 0.480). For Stage III, it was 75% and 57%, respectively (p = 0.129). Thirty-seven patients had a relapse, with the first site of failure the abdomen/pelvis in 14 (38%), lung in 8 (22%), extraabdominal lymph nodes in 7 (19%), vagina in 6 (16%), and other in 2 (5%). When stratified by histologic variant, 32% of patients with adenocarcinoma and 30% with the SP/CC subtype developed recurrent disease. Most failures for either histologic group occurred within the abdominopelvic region. However, one-third of the adenocarcinoma recurrences were in the lung. Multivariate regression analysis (age, surgical stage, grade, myometrial invasion, histologic type, lymph node status, and peritoneal cytology) demonstrated age (p = 0.019) and surgical stage (p = 0.036) to be of prognostic significance for CSS; age (p = 0.036) was the only significant prognostic factor for DFS. Grade 1-2 gastrointestinal and hematologic acute toxicities were common. Asymptomatic bibasilar scarring on chest X-ray and mild elevation of liver enzymes were seen in almost 50% of the patients. Even though chronic toxicities were less frequent, 12% developed Grade 3-4 gastrointestinal and 2% Grade 3 renal toxicities. CONCLUSION: Adjuvant WAPI is very effective treatment with excellent 10-year results for Stage I-III endometrial carcinoma with risk factors for intra-abdominopelvic recurrence, including SP or CC histologic variants, deep myometrial invasion, high grade, nodal involvement, and positive peritoneal cytology. The low long-term complication rate with high CSS rate makes WAPI the treatment of choice for these patients with significant comorbidities.

Actuarial Analysis↗
PubMed1991

Antithrombin Cambridge II, 384 Ala to Ser. Further evidence of the role of the reactive centre loop in the inhibitory function of the serpins.

Four unrelated individuals have been identified with an identical antithrombin variant, associated in one of them with episodes of recurrent venous thromboses. In each case, the plasma antithrombin concentration was normal and the only function abnormality was a minor but consistent decrease in the heparin-induced thrombin inhibition suggesting a mutation at or near the reactive centre of the molecule. Amplification and direct sequencing of exon 6 showed a G----T mutation at nucleotide 1246, which corresponds to a substitution of a serine for an alanine at residue 384. This is one of a series of conserved alanines that form the stalk to the reactive centre loop. The observed changes in this variant are compatible with recent structural studies that infer that mobility of this stalk with partial re-entry into the A-sheet of the molecule is necessary for optimal inhibitory activity.

Aged↗
PubMed1993

The recurrent carpal tunnel syndrome.

Sixteen out of 720 patients with carpal tunnel syndrome who had undergone surgery since 1979 were reoperated for a "recurrence" (2.2%). Twelve of these patients had been originally operated on in our department. Thus, our own recurrence rate is 1.7%. Three patients deteriorated following surgery, 6 had an unsatisfactory improvement, and in 7 the symptoms recurred after initial improvement. Eight of the reoperated patients had a predisposing disease (terminal renal insufficiency, insulin-dependent diabetes mellitus, acromegaly). In 10 of the 16 cases the initial operation had been carried out by surgeons in the first three years of training. Reoperation revealed incomplete splitting of the transverse carpal ligament in 10 cases, compression of the median nerve by the scar in 4, injury of the muscular branch in 1, and an anatomical variant as cause of incomplete decompression in 1 patient. "Recurrences" after carpal tunnel surgery are predominantly due to inadequacies of the first procedure. A remarkable number of patients (50%) has predisposing diseases. Interfascicular or epineural neurolysis and complete exposure and neurolysis of the median nerve and its branches is necessary only in cases of recurrence. Their omission at the first surgery does not result in an increased recurrence rate. Our observations indicate that the number of operations for recurrent carpal tunnel syndrome can probably be reduced when the first operation is performed with care and experience. Patients with carpal tunnel syndrome secondary to a systemic disease are particularly at risk.

Acromegaly↗
PubMed1997

[Pigmented fibrosarcomatous dermatofibrosarcoma protuberans (Bednar tumor). 3 case reports, analogy with the "conventional" type and review of the literature].

BACKGROUND: The so-called Bednar tumor represents a pigmented variant of dermatofibrosarcoma protuberans (DFSP) and is characterized by a usually scant (1-5% of cells) population of dendritic melanocytes within an otherwise typical DFSP. This pigmented variant accounts for up to 5% of all DFSPs. Other variants of DFSP include cases showing features (in the primary or recurrence) of either giant cell fibroblastoma or fibrosarcoma. Less than 5% of DFSPs are associated with metastases and many of these show either a fibrosarcomatous component or, much more rarely, an "MFH"-like appearance. Only one previous case has been reported which showed combined features of the pigmented and fibrosarcomatous variants. MATERIALS: We present herein 3 cases of fibrosarcomatous Bednar tumor, all occurring in males, 2 aged 75 and 1 aged 23; two patients were white and one black. The tumors were located on the trunk or shoulder and two had been present for many years with recent rapid growth. One patient developed local recurrence and metastases to bone and lung and died within 1 year. The other two patients are disease free at 3 and 5 years follow-up respectively. All three cases showed typical histological features and in two tumors the pigment was evident macroscopically. CONCLUSIONS: A through literature review, including all cases of fibrosarcomatous DFSP and metastasizing fibrosarcomatous DFSP (whether or not pigmented), confirms that the fibrosarcomatous variant of DFSP (including its pigmented counterpart) is significantly more aggressive than usual DFSP, thus underlining the importance of its accurate recognition.

Adult↗
PubMed2002

Recurrent polymorphous sweat gland carcinoma of the skin.

Polymorphous sweat gland carcinoma is an unusual, recently described variant of low-grade malignant adnexal neoplasm of the skin characterized by a prolonged clinical course and predilection for the extremities. We describe a case of recurrent polymorphous sweat gland carcinoma in a 56-year-old man who presented with multiple large skin nodules distributed along the flexor surface of his left arm. The lesions were treated by surgical excision; multiple local recurrences, as well as the development of new lesions, were observed over a period of 5 years. No distant metastases have been observed so far. The clinical differential diagnosis and management of these unusual lesions are discussed.

Arm↗
PubMed1997

Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy.

Junctional forms of epidermolysis bullosa (JEB) are characterized by tissue separation at the level of the lamina lucida. We have recently disclosed specific mutations in the LAMA3, LAMB3, and LAMC2 genes encoding the subunit polypeptides of the anchoring filament protein laminin 5 in 66 families with different variants of JEB. Examination of the JEB mutation database revealed recurrence of a particular C-->T substitution at nucleotide position 1903 (exon 14) of LAMB3, resulting in the mutation R635X. The inheritance of this nonsense mutation was noted on different genetic backgrounds, suggesting that R635X is a hotspot mutation. In this study, we have performed mutation evaluation in a European cohort of 14 families with the lethal, Herlitz type of JEB (H-JEB). The families were first screened for the presence of the R635X mutation by restriction enzyme digestion of the PCR product corresponding to exon 14. Four of the probands were found to be homozygous and six were heterozygous for R635X. The remaining alleles were subjected to mutation screening by PCR amplification of individual exons of LAMB3 and LAMC2, followed by heteroduplex analysis and nucleotide sequencing. In three families (six alleles), mutations in LAMC2 were disclosed. In the remaining eight alleles, additional pathogenetic LAMB3 mutations were found. None of the patients had LAMA3 mutation. Thus, LAMB3 mutations accounted for 22 of 28 JEB alleles (79%), and a total of 14 of 22 LAMB3 alleles (64%) harbored the R635X mutation, signifying its prevalence as a predominant genetic lesion underlying H-JEB in this European cohort of patients. This recurrent mutation will facilitate screening of additional JEB patients for the purpose of prenatal testing of fetuses at risk for recurrence.

Antigens↗
PubMed2004

Characterization of a new pulmonary vein variant using magnetic resonance angiography: incidence, imaging, and interventional implications of the "right top pulmonary vein".

INTRODUCTION: Catheter ablation of the pulmonary veins (PVs) for prevention of recurrent atrial fibrillation requires precise anatomic information. We describe the characteristics of a new anatomic variant of PV anatomy using magnetic resonance angiography. METHODS AND RESULTS: A 1.5-T magnetic resonance imaging system with a body coil or a torso phased-array coil was used before and after gadolinium injection. Magnetic resonance angiograms were acquired with a breath-hold three-dimensional fast spoiled gradient-echo imaging sequence in the coronal plane. Three-dimensional reconstruction with maximum intensity projections and multiplanar reformations was performed. A newly described variant PV ascending from the roof of the left atrium was found in 3 of 91 subjects. The mean ostial diameter of the roof PV was 7 +/- 2 mm, the mean distance from the ostium to the first branching point was 22 +/- 8.5 mm, and the mean distance to the right superior PV was 3.3 +/- 0.6 mm. CONCLUSION: We refer to the newly described variant of PV anatomy as the "right top pulmonary vein." It is important to be aware of this anatomic pattern to avoid inadvertent catheter intubation, which can result in misleading mapping results and PV stenosis.

Adult↗
PubMed2024

Further description of the phenotypic spectrum of neuronal ceroid lipofuscinosis type 11.

PURPOSE: Ceroid lipofuscinosis type 11 (CLN11) is a very rare disease, being reported in only 13 unrelated families so far. Further reports are necessary to comprehend the clinical phenotype of this condition. This article aims to report 9 additional cases of CLN11 from 9 unrelated Latin American families presenting with relatively slow disease progression. METHODS: This was a retrospective observational study including patients with CLN11. Patients were identified through an active search for granulin precursor gene (GRN) pathogenic variants across the entire database of next-generation sequencing of a commercial laboratory and by contacting attending physicians to check for clinical and radiologic findings compatible with a neuronal ceroid lipofuscinosis phenotype. RESULTS: Nine CLN11 patients from unrelated families were evaluated. Age of onset varied between 3 to 17 years. The most common findings were visual impairment, cerebellar ataxia, seizures, myoclonus, and cognitive decline. One patient had a previously unreported finding of cervical, perioral, and tongue myoclonus. Most of the patients were able to walk unassisted after an average of 14.2 years (SD 4.76 y) from disease onset. CONCLUSION: We describe 9 new cases of a very rare type of neuronal ceroid lipofuscinosis (CLN11) from Latin America with a recurrent p.(Gln257ProfsTer27) and a novel p.(Cys83Ter) nonsense variant. Our findings suggest that a slowly progressive neuronal ceroid lipofuscinosis might be a clue for the diagnosis of CLN11.

Humans↗
PubMed2001

Airway eosinophilia is associated with wheeze but is uncommon in children with persistent cough and frequent chest colds.

The role of eosinophilic airway inflammation in the variant asthma syndromes of cough and chest colds is not well defined. We tested the hypothesis that children with persistent cough and chest colds have increased sputum eosinophils, similar to those with wheeze. The parents of 390 primary school children completed a symptoms questionnaire. Children with wheeze (n = 28), cough (n = 12), recurrent chest colds (n = 17), and no symptoms (control subjects, n = 26), underwent allergy skin prick tests, spirometry, hypertonic saline inhalation challenge, and sputum induction, and then completed a peak expiratory flow (PEF) and symptoms diary over a 2-mo period. Children with wheeze had significantly reduced PEF (p = 0.001) and higher sputum eosinophils when compared with the cough, chest cold, and control groups (3.1% versus 0.5%, 0%, 0%; p = 0.03). The prevalence of eosinophilic bronchitis (sputum eosinophils > 2.5%) was 45% in the wheeze group, which was significantly higher than the control group (9.35%, p = 0.04). Eosinophilic bronchitis was present in two children with cough (20%) and two with chest colds (15%, p > 0.05 versus control). In these groups, eosinophilic bronchitis was not associated with airway hyperresponsiveness (AHR) to hypertonic saline (p > 0.05). Children with cough and chest colds reported greater exposure to environmental tobacco smoke. In conclusion, this community-based survey of children with chronic respiratory symptoms has shown that wheeze is a good discriminator for the presence of eosinophilic bronchitis, and that persistent cough and recurrent chest colds without wheeze should not be considered a variant of asthma. Eosinophilic bronchitis did occur in a significant minority of these "variant asthma" syndromes.

Age Factors↗
PubMed2000

The E148Q mutation in the MEFV gene: is it a disease-causing mutation or a sequence variant?

Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent attacks of serositis. To date more then 18 mutations responsible for the disease were identified in the MEFV gene, one such a mutation is E148Q in exon 2 of the gene. While screening FMF patients for mutations in the MEFV gene, we have identified 2 individuals parents of 2 unrelated FMF patients, who were homozygous for E148Q mutation. Upon clinical examination they were absolutely disease free and therefore raised the possibility that this mutation is a benign polymorphism rather than a mutation causing disease. To further investigate the role of the E148Q in FMF we analyzed 25 parents of FMF patients and a control group of 70 individuals, Jews of Moroccan extraction to match for ethnicity of the patients. The rate of E148Q in the control group was 6.4%, being 7.8% among the patient group. Among the parents group (obligatory carriers), in addition to the 2 parents that were homozygous E148Q, in 2 families one of the parents was heterozygote for E148Q but transmitted the other allele (apparently with unknown FMF mutation) to the affected child. Two healthy sibs of one of the E148Q homozygous were also homozygous E148Q. These observations are not in accordance to the notion that E148Q is a mutation causing disease.

Adolescent↗
PubMed2001

The cytokine profile in a transient variant of angioedema with eosinophilia.

Episodic angioedema with eosinophilia is characterized by recurrent angioedema, fever and weight gain with a remarkable eosinophilia. A transient type, predominantly reported in Japan, in which the disease is limited to a single attack, is usually less severe than the episodic type described in the U.S.A. and Europe, and provides an ideal disease model in which to study the mechanisms for resolution of eosinophilic inflammation. The aim of this study was to evaluate the relationship between cytokine responses and clinical course in three patients with the transient type. Serum levels of interleukin (IL) -5 were only marginally elevated even during an attack, unlike those in reported cases of the episodic type. Significant elevations in granulocyte-macrophage colony-stimulating factor levels were also noted during an attack in two cases in which it was measured. A dramatic increase in tumor necrosis factor (TNF) -alpha levels was subsequently observed in relation to resolution of clinical symptoms. No major changes in the serum levels of soluble Fas and soluble Fas ligand were found throughout the course. These results suggest that relatively lower levels of IL-5 and a subsequent increase in TNF-alpha levels are characteristic features of the transient type. The differences in clinical symptoms and course observed between the two types may be partly explained by the differences in the cytokine profiles.

Adult↗
PubMed1991

Plexiform xanthoma: an unusual variant.

We present a 35-year-old male patient with a recurrent xanthoma within the dermis of the elbow. There was no clinical evidence of hyperlipidaemia. The very unusual feature in this case was the presence of a plexiform growth pattern, not to our knowledge previously described in xanthomata. This necessitated distinction from a true neoplasm, most particularly of neural type.

Adult↗
PubMed2006

Inflammatory cytokine gene polymorphisms, nonsteroidal anti-inflammatory drug use, and risk of adenoma polyp recurrence in the polyp prevention trial.

BACKGROUND: Pro- and anti-inflammatory cytokine genes may be important in the maintenance and progression of colorectal cancer. It is possible that single-nucleotide polymorphisms in inflammatory genes may play a role in chronic colonic inflammation and development of colorectal adenomas. Furthermore, common variants in cytokine genes may modify the anti-inflammatory effect of nonsteroidal anti-inflammatory drugs (NSAIDs) in the prevention of colorectal cancer. METHODS: We examined the association between cytokine gene polymorphisms and risk of recurrent adenomas among 1,723 participants in the Polyp Prevention Trial. We used logistic regression to calculate odds ratios (OR) for the association between genotype, NSAID use, and risk of adenoma recurrence. RESULTS: Cytokine gene polymorphisms were not statistically significantly associated with risk of adenoma recurrence in our study. We observed statistically significant interactions between NSAID use, IL-10 -1082 G>A genotype, and risk of adenoma recurrence (P = 0.01) and multiple adenoma recurrence (P = 0.01). Carriers of the IL-10 -1082 G>A variant allele who were non-NSAID users had a statistically significant decreased risk of multiple adenoma recurrence (OR, 0.43; 95% confidence interval, 0.24-0.77) as well as a nonsignificant 30% decreased risk of any adenoma recurrence. In contrast, NSAID users who were carriers of the IL-10 -1082 G>A variant allele were at an increased risk of any adenoma recurrence (OR, 1.55; 95% confidence interval, 1.00-2.43). CONCLUSION: These findings suggest that individuals who are carriers of the IL-10 -1082 G>A variant allele may not benefit from the chemoprotective effect of NSAIDs on adenoma polyp recurrence.

Adenomatous Polyps↗
PubMed2004

Molecular characterization of Epstein-Barr virus and oncoprotein expression in nasopharyngeal carcinoma in Korea.

BACKGROUND: We evaluated the characteristics of nasopharyngeal carcinoma in Korea, including its clinical, pathologic, and molecular features, especially emphasizing on the EBV strains involved, latent membrane protein 1 (LMP1) expression, and the alterations of matrix metalloproteinase 9 (MMP9) and E-cadherin expression. METHODS.: The presence of EBV was evaluated by EBER in situ hybridization, and the expression of LMP1, MMP9, and E-cadherin by immunohistochemistry. The characterization of EBV type and LMP1 variant was performed by PCR. RESULTS: EBER was detected in 55 of 57 cases (96%) of nonkeratinizing carcinoma (NKC) and undifferentiated carcinoma, but in only four of nine cases (44%) of squamous cell carcinoma (SCC). EBER positivity was much higher in the group with nodal metastases (p =.003). The predominant strain of EBV infection was type A (81%) and a 30-bp deletion LMP1 variant (77%). All EBER-positive SCCs were infected with EBV type A. LMP1 expression was detected in 36 of 59 (61%) patients with latent EBV infection and MMP9 in 41 of these 59 (69%). LMP1 positivity was much higher among the patients aged 50 years and younger. MMP9 expression was associated with LMP1 expression (p =.008), and nodal and distant metastasis (p =.019, p =.045). Loss of E-cadherin expression was correlated with MMP9 and nodal metastasis. The survival rate was much lower in patients with a higher TNM classification, stage, and a histology of SCC. EBER positivity was associated with a better prognosis in the Kaplan-Meier test, but had no prognostic value by Cox regression analysis. Loss of E-cadherin expression and nodal metastasis were also correlated with local recurrence and distant metastasis. CONCLUSION: EBV type and LMP1 variant had no significant influence on the clinicopathologic properties of tumor. However, there was a tendency toward a better survival in the EBV type B group. Histology and clinical staging were the two most important prognostic factors.

Adolescent↗