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J C O'Keane

Publications and source records attributed to J C O'Keane.

At least 19 recordsLinked to original sources
PubMed2004

Skeletal muscle metastasis from uterine leiomyosarcoma.

A case of a 68-year-old woman who presented with a rapidly enlarging painful right thigh mass is presented. She had a known diagnosis of uterine leiomyosarcoma following a hysterectomy for dysfunctional uterine bleeding. She subsequently developed a single hepatic metastatic deposit that responded well to radiofrequency ablation. Whole-body MRI and MRA revealed a vascular mass in the sartorius muscle and a smaller adjacent mass in the gracilis muscle, proven to represent metastatic leiomyosarcoma of uterine origin. To our knowledge, metastatic uterine leiomyosarcoma to the skeletal muscle has not been described previously in the English medical literature.

Aged↗
PubMed2003

Sentinel lymph node mapping in colorectal cancer.

BACKGROUND: Ultrastaging, by serial sectioning combined with immunohistochemical techniques, improves detection of lymph node micrometastases. Sentinel lymph node mapping and retrieval provides a representative node(s) to facilitate ultrastaging. The impact on staging of carcinoma of the colon and rectum in all series emphasizes the importance of this technique in cancer management. Now the challenge is to determine the biological relevance and prognostic implications. METHODS: The electronic literature (1966 to present) on sentinel node mapping in carcinoma of the colon and rectum was reviewed. Further references were obtained by cross-referencing from key articles. RESULTS: Lymphatic mapping appears to be readily applicable to colorectal cancer and identifies those lymph nodes most likely to harbour metastases. Sentinel node mapping carries a false-negative rate of approximately 10 per cent in larger studies, but will also potentially upstage a proportion of patients from node negative to node positive following the detection of micrometastases. The prognostic implication of these micrometastases requires further evaluation. CONCLUSION: Further follow-up to assess the prognostic significance of micrometastases in colorectal cancer is required before the staging benefits of sentinel node mapping can have therapeutic implications.

Colorectal Neoplasms↗
PubMed2003

Early neoplasias of the gallbladder and bile duct: an "unstable" biliary epithelium?

Benign tumours of the biliary tree are rare. In particular, only anecdotal cases of intraductal villous adenomas have been reported. The polyp-cancer sequence has not been observed in the biliary epithelium, in contrast to the paradigm of colorectal carcinogenesis. This report presents the case of a 64-year-old woman with a past history of cholelithiasis who had two early neoplasias involving the biliary epithelium: an adenocarcinoma in situ of the gallbladder and a common bile duct (CBD) villous adenoma with high-grade dysplasia. The tumours presented 4 years apart. The clinical features and combined radiological, cytological, and surgical modalities leading to the diagnosis of intraductal villous adenoma are presented. The endoscopic ultrasound (EUS) characteristics of villous adenoma of the CBD are described. While the prognosis on both occasions appears excellent following curative resections of both tumours detected at an early stage, it is possible that further neoplasia involving the biliary tree may recur. There are currently no data on optimal surveillance modalities. It may be hypothesized that the gallbladder and biliary epithelium share a similar mechanism for carcinogenesis to that observed in the colonic adenomacarcinoma sequence.

Adenoma, Villous↗
PubMed2002

Osteosarcoma arising in a femur with melorheostosis and osteopathia striata.

Osteopathia striata is an asymptomatic autosomal dominant or sporadically inherited disorder that causes dense striations at sites of endochondral bone formation, with a predilection for the metaphyses of long bones. Melorheostosis is a mixed sclerosing dysplasia with disturbance of both endochondral and intramembranous ossification, in which disordered intramembranous ossification dominates. It presents typical radiological changes of cortical hyperostosis distributed along a sclerotome with variable associated cutaneous and clinical features. Overlap syndromes including one or more of these diseases are described. We report a 44-year-old man with both melorheostosis and osteopathia striata who presented with pain secondary to superimposed osteosarcoma. In reporting this case we discuss the relationship between sclerosing dysplasia and either coexisting or complicating sarcoma.

Adult↗
PubMed2002

Underdiagnosis of hereditary haemochromatosis: lack of presentation or penetration?

BACKGROUND: The majority of hereditary haemochromatosis (HH) patients are homozygous for the C282Y mutation in the HFE gene. We have demonstrated a homozygote frequency of 1 in 83 for the C282Y mutation in a retrospective analysis of Irish neonates. However, a fully developed phenotype is not observed at the same frequency clinically, suggesting that a large proportion of Irish HH patients may remain undiagnosed. AIMS: To determine whether underdiagnosis of HH results from the non-specific nature of early symptoms or incomplete penetrance of the C282Y mutation. METHODS: Seventy nine C282Y homozygous individuals identified from family screening for HH and 30 HH probands were investigated. Non-specific symptoms (fatigue, arthropathy, and impotence) and their association with iron indices (transferrin saturation and serum ferritin) and hepatic iron deposition were analysed. RESULTS: We found that 78% of men (mean age 42 years) and 36% of women (mean age 39 years) who were identified as C282Y homozygotes following family screening had iron overload, as defined by a transferrin saturation >or=52% combined with a serum ferritin >or=300 microg/l for men and >or=200 microg/l for women. The frequency of reports of non-specific symptoms in those individuals with iron overload was not significantly different from those who did not have iron overload. CONCLUSIONS: Our findings indicate that underdiagnosis of HH may be due to the non-specific nature of early symptoms and less frequently to the incomplete penetrance of the C282Y mutation.

Adult↗
PubMed2001

Tumour-derived mutated K-ras codon 12 expression in regional lymph nodes of stage II colorectal cancer patients is not associated with increased risk of cancer-related death.

This study examined the frequency of lymph node micrometastases detected by expression of mutant K-ras oncogene present in the respective primary tumour. The study population consisted of consecutive patients with stage II colorectal cancer (CRC) undergoing curative resection and with disease-free survival of 60 months or longer or CRC-related death. Of 27 patients found to have K-ras mutations at codon 12, 17 had genomic DNA suitable for PCR recovered from corresponding regional lymph node tissue. The same K-ras mutation was identified in the lymph nodes of 13 patients (76%), four of whom (30%) died of CRC recurrence within 5 years. A single patient in the negative group (25%) also died. Lymph node micrometastases detected by this technique thus show no relationship to mortality in stage II CRC. Further study of this technique is necessary before it can be used in the selection of patients for adjuvant chemotherapy.

Base Sequence↗
PubMed2001

Imaging of primary non-Hodgkin's lymphoma of the liver.

AIM: To describe the radiological findings in primary liver lymphoma, which is a rare entity, presenting usually as a localized liver mass. MATERIALS AND METHODS: We reviewed retrospectively the imaging findings at presentation, of patients in whom a diagnosis of primary liver lymphoma was finally made histologically. The study period covered a 10-year period between January 1990 and December 1999. There were seven patients, all men, with a mean age of 49.6 years. Each patient presented with hepatobiliary disease without peripheral adenopathy. Imaging prior to diagnosis included ultrasonography (seven patients), computed tomography (seven patients) and magnetic resonance imaging (MRI) (two patients). Appearances during and after aggressive chemotherapy were reviewed. RESULTS: Imaging appearances were of either single or multiple liver lesions simulating liver metastases. On ultrasound all foci of primary hepatic lymphoma (PHL) were hypoechoic relative to normal liver. Computed tomography (CT) showed hypoattenuating lesions in all cases, and two cases showed rim enhancement following contrast administration. The MRI appearances were variable, and no pathognomonic feature of PHL was identified, so that histology was required in all patients to establish the diagnosis. CONCLUSIONS: This paper demonstrates the spectrum of findings encountered on various imaging modalities in PHL. We conclude that although PHL is a rare condition, it should always be considered in the differential diagnosis of liver metastases when no primary tumour is apparent.

Adult↗
PubMed2001

The natural course of hepatitis C virus infection after 22 years in a unique homogenous cohort: spontaneous viral clearance and chronic HCV infection.

BACKGROUND/AIMS: The cohort of Irish women infected with hepatitis C virus (HCV) genotype 1b via contaminated anti-D immunoglobulin in 1977 represent a unique homogenous group to investigate the natural course of HCV infection. METHODS: The clinical status of 87 polymerase chain reaction (PCR) positive and 68 PCR negative women was investigated at diagnosis (1994/95) and after 4-5 years of follow up (21/22 years after inoculation). Other features investigated included: histological status/progression, psychosocial impact of HCV infection, extrahepatic manifestations, and HLA class II associations. RESULTS: The most common symptoms reported were fatigue and arthralgia. Furthermore, 77% of women fell within the clinical range for psychological distress. A history of icteric hepatitis was reported in 20.6% of PCR negative and 3.4% of PCR positive women after inoculation (p=0.002). The mean histological activity index/fibrosis scores of PCR positive and negative women were 4.1 (1.4)/1.1 (1.3) and 2.1 (1.5)/0.15 (0.36) at diagnosis and 4.1 (1.2)/1.0 (1.0) in 44 PCR positive women after five years of follow up. Cirrhosis or hepatocellular carcinoma was not observed. The DRB1*01 allele was present in 28.8% of PCR negative and 8.7% of PCR positive women (p=0.004). The prevalence rates of mixed cryoglobulinaemia, sicca complex, positive thyroid autoantibodies, antinuclear antibody, rheumatoid factor, and antimitochondrial antibody in PCR positive women were 12.7%, 7.6%, 13.9%, 5.1%, 3.8%, and 3.8%. CONCLUSIONS: A benign course of HCV infection with lack of disease progression was observed in women with chronic HCV, 22 years after inoculation. Acute icteric hepatitis and the HLA DRB1*01 allele were associated with viral clearance. Despite this favourable outcome, high levels of psychological distress and poor quality of life were present.

Alanine Transaminase↗
PubMed2001

Minor salivary glands: causing major problems.

Tumours arising in the parapharyngeal space (PPS) are rare and account for approximately 0.5% of all head and neck neoplasms. These neoplastic processes represent a wide variety of both benign (80%) and malignant lesions arising from the diverse range of structures within and surrounding the PPS. The PPS is typically conceptualized as a potential neck space in the shape of an inverted cone with its base at the skull base and apex at the greater cornu of the hyoid. Because of this unique structure, lesions must often grow to a considerable size before symptoms become apparent and clinical detection is possible. A rare case of mucoepidermoid tumour of the minor salivary glands arising in the prestyloid parapharyngeal space is described. The complex anatomical and pathological considerations within this region present a substantial challenge to the head and neck surgeon in the evaluation and management of these lesions.

Aged↗
PubMed2000

Mortality association of enhanced CD44v6 expression is not mediated through occult lymphatic spread in stage II colorectal cancer.

BACKGROUND AND AIMS: In the absence of other metastatic disease, the presence of lymph node metastasis remains the most important determinant of survival in colorectal cancer (CRC). Cluster designation 44 variant 6 (CD44v6) over-expression is associated with worse outcome in all stages of CRC. The CD44v6 is believed to confer metastatic potential through its facilitation of migration, extravasation and proliferation, although the specific means by which it conveys an adverse prognosis in CRC is unknown. The aim of the present study was to determine if CD44v6 over-expression in Stage II CRC subjects was associated with the presence of lymph node micrometastases. METHODS: We assessed tumour CD44v6 expression in 43 randomly sampled subjects who had resections for Stage II CRC between 1984 and 1991 by using immunohistochemistry. Micrometastases were sought in corresponding lymph node (LN) sections using keratin immunohistochemistry. RESULTS: There was a statistical trend between tumour CD44v6 over-expression and mortality (P = 0.09) and a significant relationship between LN cytokeratins and mortality (P = 0.01). There was no association between the detection of LN cytokeratins and tumour CD44v6 over-expression. CONCLUSION: We conclude that the adverse survival effect of CD44v6 over-expression is not mediated though lymphatic spread and postulate that it may therefore facilitate haematogenous metastasis.

Colorectal Neoplasms↗
PubMed2000

The detection of cytokeratins in lymph nodes of Duke's B colorectal cancer subjects predicts a poor outcome.

OBJECTIVES: The objectives of this study were to examine the frequency of lymph node micrometastases detected by keratin immunohistochemistry and their relationship with survival behaviour. METHODS: A total of 133 consecutive patients staged as Duke's B, who had curative resection for colorectal cancer (CRC), comprised the study population. Patients who had died of a non-CRC-related cause or who became lost to follow-up were excluded, resulting in an amended population of 100. Study end-points were defined as disease-free survival of 5 years or CRC-related death. Paraffin-embedded lymph node sections were stained with a commercial cytokeratin antibody using a standard avidin-biotin technique. RESULTS: One quarter of subjects had micrometastases. Fifty-six per cent of subjects with positive lymph nodes had an adverse outcome, compared with 11% of subjects with negative nodes. A highly significant association was found between lymph node cytokeratin expression and mortality in both the univariate (log rank P = 0.0001) and multivariate (Cox proportional hazards P = 0.0123) analysis. CONCLUSIONS: Lymph node micrometastases detected by this inexpensive and simple technique are significantly associated with mortality in Duke's B CRC. This technique may be used to select patients for adjuvant chemotherapy.

Biomarkers, Tumor↗
PubMed2000

Bizarre parosteal osteochondromatous proliferation (Nora's lesion) of the sesamoid: a case report.

We report the a case of Nora's lesion (Bizarre Parosteal Osteochondromatous Proliferation) of the sesamoid. A 32-year-old woman presented with a painless, enlarging mass of two years duration on the plantar aspect of the first metatarsophalangeal joint of the left foot. Radiographs, Computerized Tomographs and Magnetic Resonance images, initially suggested a parosteal osteosarcoma arising from the tibial sesamoid. The mass was excised, and a histological diagnosis of Bizarre Parosteal Osteochondromatous Proliferation of bone (Nora's lesion) was made. The aggressive growth of this lesion may suggest a neoplasm clinically. Histological features, however, are those of a reactive lesion.

Adult↗
PubMed1999

Fatigue does not correlate with the degree of hepatitis or the presence of autoimmune disorders in chronic hepatitis C infection.

BACKGROUND: Fatigue is probably the most commonly reported symptom in chronic hepatitis C virus (HCV) infection. It is unclear whether fatigue is related to the severity of underlying liver disease or other autoimmune disorders often described with chronic HCV infection. OBJECTIVE: To quantify fatigue in terms of its impact on quality of life in a homogeneous cohort and examine its relationship to the status of liver disease or associated autoimmunity. METHODS: The Fatigue Impact Scale (FIS) questionnaire (Fisk et al. Clin Infect Dis 1994; 18:S79-S83), a recently validated psychometric tool for assessing patients' perceptions of the functional limitations attributable to fatigue (40 statements; three subscales: physical, cognitive and psychological; maximum score = 160), was applied to a cohort of Irish women who were PCR-positive for HCV genotype 1b via inoculation with contaminated anti-D products in 1977. RIBA-positive, PCR-negative patients (n = 20) and healthy age-matched women (n = 50) served as controls. The degree of hepatitis was assessed using the Knodell histological activity index (HAI) score on previous liver biopsies. Clinical and laboratory evidence of cryoglobulinaemia, Sjogren's syndrome, connective tissue diseases, autoimmune thyroid disease and glomerulonephritis was sought. RESULTS: The mean FIS score of the 66 PCR-positive women (mean 78+/-36; range 7-153) was significantly higher than in age-matched controls (mean 31+/-24, range 0-78, P<0.001) but not statistically different from that of the RIBA-positive, PCR-negative group. The FIS score did not correlate with the HAI score (median HAI = 4; range 2-9; Pearson's correlation coefficient r=0.01, P=0.9). Significant levels of cryoglobulins were detected in 10 (15.2%). The sicca complex was diagnosed in six patients, three of whom had associated cryoglobulinaemia. Thyroid antibodies, anti-nuclear antibody, rheumatoid factor, antimitochondrial antibody and anti-smooth muscle antibody were detected in 15.2%, 6%, 4.5%, 4.5% and 1.5%, respectively. There was no significant difference in the FIS score between the groups with autoimmune diseases and those without. The FIS score of the nine patients previously treated with interferon was not statistically different from the untreated group (P=0.39). CONCLUSION: The perceived functional impact of fatigue on quality of life is significantly higher in patients with chronic HCV genotype 1b infection compared to healthy controls. However, it is unrelated to the degree of hepatitis and cannot be accounted for by the co-existence of autoimmune disorders alone.

Adult↗
PubMed1999

Hepatocellular carcinoma arising in the absence of cirrhosis in genetic haemochromatosis: three case reports and review of literature.

Genetic haemochromatosis constitutes a high risk factor for the development of hepatocellular carcinoma. It is widely accepted that venesection prevents the evolution of cirrhosis in haemochromatosis and indirectly protects against the development of hepatocellular carcinoma. Clinical, pathological and radiological data are presented on three patients who did not conform to the 'siderosis-cirrhosis-carcinoma' sequence and in whom prompt and adequate iron depletion did not prevent the development of cancer. This is the first report of hepatocellular carcinoma intervening in non-cirrhotic liver in two siblings with genetic haemochromatosis. The current literature on the subject is reviewed. The direct oncogenic role of iron remains to be elucidated. Hepatocellular carcinoma should be considered as a differential diagnosis in patients with non-cirrhotic genetic haemochromatosis who present with clinical deterioration during the course of an otherwise uneventful venesection programme.

Adult↗
PubMed1999

Immunohistochemical detection of mutant p53 protein in regional lymph nodes is associated with adverse outcome in stage II colorectal cancer.

Epidemiologic data identifies a cohort of Duke's B (CRC) patients whose survival more closely matches that of Duke's C. Lymph node micrometastases may account for this discrepancy. Lymph node expression of mutant p53 protein (Mp53P) has been linked to a reduction in survival in Japanese Duke's B patients. We aimed to determine the significance of nodal p53 expression in European Duke's B patients using immunohistochemistry. The study comprised 134 consecutive patients who had resections for CRC between 1984 and 1991. End points were 5 year disease free survival or CRC related death. Thirty-four subjects did not achieve end points and were excluded. We examined tumour and nodal sections for Mp53P by immunohistochemistry and correlated this with survival using a Kaplan-Meier (KM) and a Cox Proportional hazards model (CPHT). Five year survival was 73%. Fifty-eight percent of primary tumours expressed Mp53P. Tumour p53 expression did modulate survival behavior. Twenty-six percent of subjects' lymph nodes expressed Mp53P. Fifty-three per cent of those with positive and 17% of those with negative lymph nodes died of recurrence. The relative risk for nodal Mp53P expression was 3.1. There was a significant univariate relationship between lymph node p53 expression and mortality. (Log Rank p = 0.028). Multivariate analysis also showed a significant relationship with mortality. (CPHT p = .03). We conclude that lymph node expression of Mp53P is associated with increased mortality in Duke's B CRC.

Adult↗