A progesterone-receptor-positive huge retroperitoneal tumour mimics metastasis in a breast cancer patient: sarcomatoid renal cell carcinoma.

We report a rare case of breast cancer concomitant with progesterone-receptor-positive renal cell carcinoma. A 48-year-old woman was diagnosed as having infiltrating ductal carcinoma of the breast and underwent modified radical mastectomy. A synchronous retroperitoneal tumour was detected by sonography of the abdomen in a routine cancer staging. Initially, the tumour was diagnosed as a synchronous retroperitoneal metastasis by needle biopsy; further tests revealed that it was progesterone receptor-positive. The retroperitoneal tumour showed poor response to full courses of adjuvant chemotherapy for breast cancer. Subsequently, the patient underwent a radical operation that included nephrectomy. The final pathology confirmed a sarcomatoid renal cell carcinoma. The post-operative course was uneventful. The patient had no recurrence at the 1-year follow-up. In this report, accurate diagnosis and adequate treatment were discussed. An intra-abdominal tumour with progesterone receptor- (PR) positive features is usually considered to be metastatic in breast cancer patients. For breast cancer patients with a PR-positive retroperitoneal tumour, renal cell carcinoma should be differentiated from a metastatic lesion of breast cancer, even if PR-expression is rare in renal cell carcinoma. To the best of our knowledge, this is the first case of PR-positive expression in breast cancer concomitant with renal carcinoma. In clinical settings, it is challenging for the surgeon to make an accurate diagnosis and to provide prompt treatment in such cases.

Iris ring melanoma: fine needle biopsy.

AIMS: To delineate the diagnostic accuracy of fine needle biopsy in iris ring melanoma and determine the tumour related mortality of this neoplasm. METHODS: A retrospective analysis of 22 patients with iris melanomas that involve the entire 360 degrees of the anterior chamber angle. RESULTS: Iris ring melanomas were correctly diagnosed in all cases. In 11 of 16 cases (69%) a fine needle biopsy performed 180 degrees away from the main mass was positive for an iris ring melanoma. The tumour related mortality in iris ring melanoma cases was four of 22 patients (18%). Actuarial survival analysis showed a 10 year mortality (Kaplan-Meier) of 15%. CONCLUSION: A fine needle aspiration biopsy can be used to diagnose an iris ring melanoma. Iris ring melanomas have significant mortality compared with focal tumours.

20 MHz high frequency ultrasound assessment of scleral and intraocular conjunctival squamous cell carcinoma.

AIM: To assess in a prospective manner, high frequency ultrasound diagnosis of deep invasion by conjunctival squamous cell carcinoma. METHODS: Prospective, non-randomised case series comparing 20 MHz high frequency ultrasonographic and clinicopathological data. RESULTS: 20 MHz high frequency ultrasound delineated the degree of deep involvement of this tumour into the sclera, globe, and orbit. The results of ultrasonography correlated with the clinicopathological results. CONCLUSIONS: High frequency ultrasound is a useful diagnostic adjunctive test in patients with possible deep involvement by a conjunctival squamous cell carcinoma.

Intestinal obstruction from midgut volvulus after laparoscopic appendectomy.

We present the case of a 30-year-old man who developed a small bowel obstruction from an acute midgut volvulus 8 days after undergoing a laparoscopic appendectomy. There was no evidence of congenital malrotation or midgut volvulus on the initial computed tomography (CT) scan or at laparoscopy. Subsequently, a midgut volvulus developed in the absence of congenital malrotation.

Polymerase eta and p53 jointly regulate cell survival, apoptosis and Mre11 recombination during S phase checkpoint arrest after UV irradiation.

Xeroderma pigmentosum variant (XPV) cells lack the damage-specific polymerase eta and undergo a protracted arrest at the S phase checkpoint(s) following UV damage. The S phase checkpoints encompass several qualitatively different processes, and stimulate downstream events that are dependent on the functional state of p53. Primary fibroblasts with wild-type p53 arrest in S, and require a functional polymerase eta (pol eta) to carry out bypass replication, but do not recruit recombination factors for recovery. XPV cells with non-functional p53, as a result of transformation by SV40 or HPV16 (E6/E7), recruit the hMre11/hRad50/Nbs1 complex to arrested replication forks, coincident with PCNA, whereas normal transformed cells preferentially use the pol eta bypass replication pathway. The formation of hMre11 foci implies that arrested replication forks rapidly undergo a collapse involving double strand breakage and rejoining. Apoptosis occurs after UV only in cells transformed by SV40, and not in normal or XPV fibroblasts or HPV16 (E6/E7) transformed cells. Conversely, ultimate cell survival in XPV cells was much less in HPV16 (E6/E7) transformed cells than in SV40 transformed cells, indicating that apoptosis was not a reliable predictor of cell survival. Inhibition of p53 transactivation by pifithrin-alpha or inhibition of protein synthesis by cycloheximide did not induce hMre11 foci or apoptosis in UV damaged fibroblasts. Inhibition of kinase activity with wortmannin did not increase killing by UV, unlike the large increase seen with caffeine. Since HPV16 (E6/E7) transformed XPV cells were highly UV sensitive and not further sensitized by caffeine, it appears likely that caffeine sensitization proceeds through a p53 pathway. The S phase checkpoints are therefore, a complex set of different checkpoints that are coordinated by p53 with the capacity to differentially modulate cell survival, apoptosis, bypass replication and hMre11 recombination.

Uveal tumour resection.

AIM: To review the ocular retention rates, visual results, and metastases in uveal tumours managed with eye wall resection techniques. METHODS: This was a retrospective analysis of consecutive local uveal tumour resections performed by a single surgeon. All enucleation specimens were reviewed by one author. Both parametric and non-parametric analysis of data were performed. RESULTS: 138 eyes were scheduled for eye wall resection surgery. The mean age was 52 years (range 11-86 years). Tumours involved predominantly the iris in 14 cases, iris-ciliary body in 57, ciliary body alone in 18 patients, and in 49 cases the choroid was involved (ciliochoroidal, iris-ciliary body-choroid, or choroid). 125 eyes harboured melanomas; posterior tumours were more likely to have epithelioid cells (p<0.05). The mean follow up was 6 years. The mean clock hours in iris and iris-ciliary body tumours was 3.5. In tumours that involved the choroid the mean largest diameter was 12.9 mm and the mean thickness 8.5 mm. 105 of 138 (76%) eyes were retained. Histological assessment of surgical margins did not correlate evidence of tumour in enucleated eyes or metastatic disease. Surgical margins of more anterior tumours were more likely to be clear on histological evaluation (p<0.05). Approximately 53% of retained eyes had a final visual acuity of > or =20/40; visual results were significantly better in more anteriorly located tumours (p<0.05). All retained iris tumour cases had > or =20/40 final visual acuity. In tumours that involved the choroid nine of 31 retained eyes kept that level of visual acuity. Eight patients developed metastases; all metastatic events developed in patients with tumours that involved the choroid, and seven of eight were mixed cell melanomas. CONCLUSIONS: 76% of eyes were retained and 53% of these had a final visual acuity of > or =20/40. Only 7% of uveal melanoma patients developed metastatic disease with a mean follow up of 6 years. Survival did not appear to be compromised with eye wall resection and in very thick, more posterior melanomas it appeared that ocular retention and visual results were better than with radiation alone.

Amelanotic corneal melanoma after a blast injury.

PURPOSE: To report a case of a corneal melanoma after trauma. METHODS: Case report. RESULTS: A 68-year-old man sustained an ocular injury from a blast furnace explosion in 1958. In 1998, he underwent a penetrating keratoplasty for a corneal scar. Histologic examination and cell markers of the host button revealed intrastromal and subepithelial melanoma. No clinical or microscopic evidence of adjacent conjunctival or uveal melanoma was found. CONCLUSION: Melanoma of the cornea can present as a stromal opacity after trauma.

Chronic mesenteric ischemia: diagnosis and treatment.

Chronic mesenteric ischemia is an uncommon manifestation of atherosclerotic disease. The presentation of chronic mesenteric ischemia is often confusing and the diagnosis is usually not made until late in the course of the disease. Selective angiography is considered the gold standard for establishing the diagnosis of chronic mesenteric ischemia. The treatment options for patients presenting with symptomatic chronic mesenteric ischemia include various surgical approaches to revascularization and catheter-based interventions.

Eye-wall resection.

PURPOSE: To review the ocular retention rates, visual results, and metastases in uveal tumors managed with eye-wall resection techniques. METHODS: This was a retrospective analysis of uveal tumors selected for eye-wall resection with the surgical procedures performed by a single surgeon. All enucleation specimens were reviewed by one author. Both parametric and non-parametric analysis of data was performed. RESULTS: A total of 132 eyes were scheduled for eye-wall resection surgery. Mean patient age was 52 years (range, 11 to 86 years). Tumors involved the iris alone in 17 cases, the iris-ciliary body in 53, the ciliary body alone in 16, and the choroid (ciliochoroidal, iris-ciliary body-choroid, or choroid) in 46 cases. A total of 114 eyes harbored melanomas; tumors located more posteriorly were more likely to have epithelioid cells (P < .05). Mean follow-up was 6 years. Mean number of clock hours in iris and iris-ciliary body tumors was 3.5. In tumors that involved the choroid, the mean largest diameter was 12.6 mm and the mean thickness was 8.2 mm. Ninety-three (70%) of 132 eyes were retained. Histologic assessment of surgical margins did not correlate with either evidence of tumor in enucleated eyes or metastatic disease. Surgical margins of tumors located more anteriorly were more likely to be clear on histologic evaluation (P < .05). Approximately 56% of retained eyes had a final visual acuity of 20/40 or better; visual results were significantly better in tumors located more anteriorly (P < .05). All retained eyes with iris tumors had a final visual acuity of 20/40 or better. In tumors that involved the choroid, 8 of 25 retained eyes kept visual acuity of 20/40 or better. Metastases developed in 8 patients; all metastatic events developed in patients with tumors that involved the choroid, and 7 of 8 were mixed cell melanomas. CONCLUSIONS: Seventy percent of eyes were retained, and 56% of these had a final visual acuity of 20/40 or better. Only 7% of patients with uveal melanoma developed metastatic disease (mean follow-up, 6 years). Survival did not appear to be compromised with eye-wall resection, and in very thick melanomas located more posteriorly, ocular retention and visual results appeared to be better than that attained with radiation alone.

Coats' syndrome: long term follow up.

AIM: To increase the understanding of the long term results in pseudo-retinoblastoma eyes with infantile Coats' syndrome. METHODS: This study design was a retrospective case review. 10 patients were analysed who were initially referred with a diagnosis of retinoblastoma but had Coats' syndrome on the basis of ocular oncological evaluation. Vision, fundus photography, ultrasonography, and computed tomography scans were obtained and evaluated. Changes in vision and retinal status were measured. RESULTS: The initial age at presentation was 2.4 years (range 0.25-4 years). All patients had retinal detachment at diagnosis. Nine of 10 retinas were reattached after various treatments. Reattached retinas had closure of peripheral telangiectasia and visible intraretinal crystals. Vision was dismal. At last follow up (mean 8.8 years), only two patients had 20/400 or better visual acuities. Five eyes had no light perception despite early treatment to reattach the retina. Nine of 10 eyes remain cosmetically acceptable. One patient wore a cosmetic shell. CONCLUSIONS: Long term results indicate that these eyes can be salvaged and the retina reattached but the visual outcome is poor.

Combined nevi of the conjunctiva.

OBJECTIVE: To report the clinical and histologic features of combined nevi of the conjunctiva, a type of nevus that is not uncommon in the skin but rarely has been reported in the conjunctiva. METHODS: Conjunctival nevi and melanomas in the files of the University of California at San Francisco Eye Pathology Laboratory from 1984 to 1999 were reviewed for the presence of features of both standard nevocytic nevi and blue nevi. Clinical histories and, when available, clinical photographs were obtained. RESULTS: Thirty combined nevi were discovered between 1984 and 1999. One case before 1984 had been incorrectly diagnosed as a junctional nevus. The dendritic and spindle-shaped blue nevus cells had been overlooked because they were not recognized as distinct from the standard nevocytic nevus cells. The recognition of blue as well as a brown color, a deep as well as a superficial component in the lesion, or a history of pigmentation since birth may help to establish the correct clinical diagnosis and prevent an unnecessarily deep surgical resection. Although growth of the lesion or "satellites" in some may favor a clinical diagnosis of melanoma, no lesions in this series were malignant. CONCLUSION: Despite a paucity of reports of combined nevi of the conjunctiva in the medical literature, this type of nevus, a combination of a nevocytic and a blue nevus, is common and has been overlooked in the past.

Glutathione-S-transferase polymorphisms and risk of squamous-cell carcinoma of the head and neck.

Differences in genetic susceptibility to tobacco-induced carcinogenesis appear to modulate an individual's risk of squamous-cell carcinoma of the head and neck (SCCHN). Risk for SCCHN may be associated with the null alleles of the carcinogen-metabolizing genes glutathione-S-transferase (GST) T1 and GSTM1. In this study, we evaluated the association between GSTM1 and GSTT1 null genotypes and risk of SCCHN in a matched case-control study of 162 patients with SCCHN and 315 healthy controls. Our results showed that 53.1% of cases and 42.9% of controls were null for GSTM1, whereas 32.7% of cases and 17.5% of controls were null for GSTT1 (p < 0.05 and p < 0.001, respectively). Furthermore, 19.8% of cases but only 7.9% of controls were null for both genes (p < 0.001). Multivariate analysis using logistic regression models, including age, sex, ethnicity, smoking status, alcohol status and GST genotypes, showed that both of these genotypes remained independent risk factors for disease [adjusted odds ratios (ORs) = 1.50 and 2.27, respectively; 95% confidence intervals (CIs) = 1.01-2.23 and 1.43-3.60, respectively). When the genotypes were divided into neither null, either null or both null, there was a dose-response relationship (adjusted OR = 1.50, 95% CI = 0.98-2.30) for the either-null group and (adjusted OR = 3.64, 95% CI = 1.94-6.84) for the both-null group (p < 0.001, trend test). Our findings suggest that the GSTM1 and GSTT1 null genotypes are independent risk factors for SCCHN and markers for genetic susceptibility to tobacco-induced carcinogenesis.

Randomized trial of radiation for age-related macular degeneration.

PURPOSE: To assess external beam radiation efficacy for subfoveal neovascularization associated with age-related macular degeneration. METHODS: All patients were evaluated in the same institution. In this prospective trial, 27 eyes (27 patients) with subfoveal neovascularization associated with age-related macular degeneration were randomized to either single fraction radiation (750 centigray) or observation. Endpoints were assessed by fluorescein angiography and Early Treatment Diabetic Retinopathy Study (ETDRS) visual acuity. Examiners were masked to patient treatment status. Parametric and nonparametric statistical analyses were performed. RESULTS: Twenty-seven patients were entered into the trial with a mean age of 76 years (range, 64 to 89) and a mean follow-up of 17 months (range, 7 to 32). The visual acuity loss was slightly less in the irradiated group, a finding of borderline significance (P < .046). There was no significant difference in fluorescein angiographic evidence of subretinal neovascular membrane change in the control group vs the irradiated group. CONCLUSIONS: External beam radiation, at this dose and fractionation, did not appear harmful. There was slightly less visual loss in irradiated eyes. No difference in fluorescein angiographic characteristics of subfoveal neovascularization size or progression in eyes with age-related macular degeneration was noted.

Orbital lymphangioma: an analysis of 26 patients.

AIM: To evaluate retrospective data on the clinical findings, histological features, radiological diagnosis, and management outcomes in orbital lymphangioma. METHODS: Data on 26 orbital lymphangioma patients managed over 16 years were re-evaluated. The computed tomograph and magnetic resonance scans and histological slides were reviewed. Parametric techniques were used to assess correlations among clinical, radiological, and histopathological factors. RESULTS: At presentation proptosis was present in 85%, ptosis in 73%, and restrictive eye movements in 46% of patients. The accuracy of the initial radiology interpretations was 77%. 24 cases required one or more surgeries. The mean follow up was 9.2 years (range 1-14 years). 58% of patients developed recurrences. In cases that recurred, motility restriction was significantly more frequent at initial examination than cases without recurrence (p < 0.05). After therapy, 75% of patients were satisfied with their visual function and cosmetic appearance. CONCLUSIONS: Conservative management of orbital lymphangioma with multiple partial resections may achieve satisfactory results.

Intraepithelial and invasive squamous cell carcinoma of the conjunctiva: analysis of 60 cases.

AIM: To evaluate the clinical features, treatment results, and recurrence rates in patients with either intraepithelial or invasive squamous cell carcinoma of the conjunctiva. METHODS: Retrospective analysis of 60 cases (22 conjunctival intraepithelial and 38 invasive squamous cell carcinomas) to determine patterns of clinical presentation, aetiological factors, and treatment results. The mean patient age was 64 years old. 70% of the patients were male. Patients were treated with a variety of therapies, depending on the degree of tumour involvement; most cases were treated with frozen section controlled excision and adjunctive cryotherapy. Modified eye wall resection or enucleation was done for intraocular invasion and exenteration was done for orbital involvement. RESULTS: Red eye (68%) and ocular irritation (57%) were the most common presenting symptoms. 44% of the patients had other eye findings consistent with extensive solar exposure. 20% of the patients had a history of malignant skin tumours. Visceral malignancies developed in 8%. Scleral involvement was present in 14 (37%), intraocular involvement in five (13%), and orbital invasion in four (11%) cases with invasive squamous cell carcinoma. After a mean follow up of 56 months (18-226 months) the rate of new or recurrent tumours was 4.5% for intraepithelial squamous carcinoma and 5.3% for invasive squamous cell carcinoma. No patient developed metastases or tumour related deaths. CONCLUSION: Excision with intraoperative control of the surgical margins and adjunctive cryotherapy results in good tumour control rates.

Combined nevi of the conjunctiva.

PURPOSE: To report the clinical and histologic features of combined nevi of the conjunctiva, a type of nevus that is not uncommon in the skin but has rarely been reported in the conjunctiva. METHODS: Conjunctival nevi and melanomas from the files of the University of California, San Francisco, eye pathology laboratory were reviewed from 1984 to 1999 for the presence of features of both standard nevocytic nevi and blue nevi. Clinical histories and, when available, clinical photographs were obtained. RESULTS: Thirty-one combined nevi were discovered during the 15-year period between 1984 and 1999. One case before 1984 had been incorrectly diagnosed as a junctional nevus. The dendritic and spindle-shaped blue nevus cells had been overlooked because they were not recognized as distinct from the standard nevocytic nevus cells. The recognition of a blue as well as a brown color, a deep as well as a superficial component in the lesion, or a history of pigmentation since birth may help to establish the correct clinical diagnosis and prevent an unnecessarily deep surgical resection. Although growth of the lesion or "satellites" in some patients may favor a clinical diagnosis of melanoma, none of the lesions in this series were malignant. CONCLUSION: Despite a paucity of reports of combined nevi of the conjunctiva in the medical literature, this type of nevus--a combination of a nevocytic and a blue nevus--is common and has been overlooked in the past.