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At least 1,531 records · Page 85Linked to original sources
PubMed1999

Anterior craniofacial resection for malignant ethmoid tumors--a series of 91 patients.

BACKGROUND: Anterior craniofacial resection is now recognized as the best treatment for ethmoid tumors involving the cribriform plate with or without invasion of anterior cranial fossa. METHODS: Ninety-one patients underwent an anterior craniofacial resection for ethmoid malignant tumors at the Milan Cancer Institute between 1987 and 1994. The patient population was divided into two sections (30 and 61 patients) based upon some important variants (type of craniotomy, antibiotic treatment, postoperative care). RESULTS: The mean age was 53.4 years (range, 24 to 78 years). There were 62 men and 29 women. Forty-nine patients had a recurrence after previous treatments (surgery and/or radiotherapy). The subdivision by histology was as follows: 50 cases of adenocarcinoma, 16 cases of epidermoid and undifferentiated carcinoma, 8 cases of esthesioneuroblastoma, 5 cases of adenoid cystic carcinoma, 5 cases of melanoma, and 6 rare tumors. The stages (according to our new staging) were as follows: 37 cases with T2, 27 cases with T3, and 27 cases with T4. The mean follow-up was 47 months. Seven patients died after surgery (6 in the first series). The survival at 3 and 5 years was, respectively, 52% and 47%, and the disease-free survival (DFS) was 30% and 24%, with a statistically significant difference at multivariate analysis in favor of patients without prior treatment (p = .033) or T2 versus T3 and T4 (p<.007). CONCLUSIONS: An anterior craniofacial resection should be performed in cases of ethmoid tumors reaching or eroding the cribriform plate. A scrupulous intra- and postoperative approach is necessary to avoid severe complications. The patients often survive for a long time with recurrence ongoing. Our new staging identifies the critical extensions of ethmoid tumors.

Adenocarcinoma↗
PubMed1993

Basaloid squamous cell carcinoma of floor of mouth.

BACKGROUND: Only five cases of basaloid squamous cell carcinoma (BSCC), a rare tumor of head and neck, have been reported to involve the floor of mouth. METHODS: Clinicopathologic and immunohistochemical features of eight BSCC of floor of mouth were studied to evaluate the significance of the basaloid features. RESULTS: Five patients were male and three were female. Their mean age was 52 years (range, 39-59). At presentation, one patient was diagnosed with Stage II disease, four were diagnosed with Stage III disease, and three were diagnosed with Stage IV disease. Aside from typical squamous differentiation, each patient had a component of basaloid cells arranged in irregular nests, cords, or pseudoglandular spaces with a brisk mitotic rate, myxoid stroma, and marked tendency for perineural invasion. A panel of immunostains yielded the following results: keratin, +8/8; carcinoembryonic antigen, +3/8; and S-100, chromogranin, and neuron-specific enolase were negative. Mucin stains were negative in all cases. Ultrastructural characterization of three BSCC revealed squamous differentiation of the basaloid cells and a peculiar basal membrane-like material in between them. No neurosecretory granules were present. Seven patients underwent surgery; six of them were also treated with postoperative radiation therapy. In two cases, chemotherapy was added at recurrence. One nonresectable patient received radiation and chemotherapy. At the last follow-up, five patients were dead of disease within 13 months from the diagnosis. One patient died of an unknown cause. Two patients were still alive at the time of this report, 4 and 2 months after treatment. Seven patients had recurrent disease. The authors compared these data with a control group of patients with conventional squamous cell carcinoma (SCC). CONCLUSIONS: The authors' results indicate that BSCC of floor of mouth is an aggressive variant of SCC and is prognostically worse than the conventional SCC, regardless of the grade of the latter.

Adult↗
PubMed2026

Somatic Mitochondrial-Nuclear DNA Transfer in Lymphoproliferative Disorders.

INTRODUCTION: Somatic mitochondrial-nuclear DNA transfer (SMNT) is a process by which mitochondrial DNA (mtDNA), of varying sizes, integrate into the nuclear genome and has been previously reported in solid tumours. METHODS: EuroClonality-NGS DNA Capture sequencing data from 755 lymphoid malignancies and 59 lymphoid cell lines were analysed for SMNT-associated structural variants. RESULTS: Five malignancies (0.66%) harboured SMNTs, predominantly involving IGH genes, with one PTEN gene disruption identified. Breakpoint features supported non-homologous end joining-mediated integration. CONCLUSION: SMNTs are rare but recurrent events in lymphoid malignancies and may represent stable clonal markers for minimal residual disease monitoring. TRIAL REGISTRATION: The authors have confirmed clinical trial registration is not needed for this submission.

Journal Article↗
PubMed2006

Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome.

The structural diversity of the human genome is much higher than previously assumed although its full extent remains unknown. To investigate the association between segmental duplications that display constitutive copy number differences (CNDs) between humans and the great apes and those which exhibit polymorphic copy number variations (CNVs) between humans, we analysed a BAC array enriched with segmental duplications displaying such CNDs. This study documents for the first time that in addition to human-specific gains common to all humans, these duplication clusters (DCs) also exhibit polymorphic CNVs > 40 kb. Segmental duplication is known to have been a frequent event during human genome evolution. Importantly, among the CNV-associated genes identified here, those involved in transcriptional regulation were found to be significantly overrepresented. Complex patterns of variation were evident at sites of DCs, manifesting as inter-individual differentially sized copy number alterations at the same genomic loci. Thus, CNVs associated with segmental duplications do not simply represent insertion/deletion polymorphisms, but rather constitute a wide variety of rearrangements involving differential amplification and partial gains and losses with high inter-individual variability. Although the number of CNVs was not found to differ between Africans and Caucasians/Asians, the average number of variant patterns per locus was significantly lower in Africans. Thus, complex variation patterns characterizing segmental duplications result from relatively recent genomic rearrangements. The high number of these rearrangements, some of which are potentially recurrent, together with differences in population size and expansion dynamics, may account for the greater diversity of CNV in Caucasians/Asians as compared with Africans.

Animals↗
PubMed2005

Case report: microcystic transitional cell carcinoma of the urinary bladder.

We report a rare case of microcystic transitional cell carcinoma involving the urinary bladder, in a 38-year-old man, and we add our experience in the treatment of this neoplasm. The tumor was muscle invasive, and a radical cystectomy was performed. The patient received no postoperative chemotherapy or radiotherapy, and he has not signs of local recurrence or distal metastasis after 3 years of intense follow up. Even though the number of cases documented so far, is insufficient to draw safe conclusions regarding the optimal treatment of the microcystic variant of transitional cell carcinoma. Our case indicates that even in cases of microcystic transitional cell carcinoma with infiltrative nature, aggressive therapy is associated with good control of the disease locally and distally.

Adult↗
PubMed2006

Can takotsubo cardiomyopathy be familial?

Takotsubo cardiomyopathy is a form of reversible left ventricular dysfunction that is presumably precipitated by stress. Our observations of the recurrence of takotsubo cardiomyopathy in an individual and the occurrence of a reversible cardiomyopathy in her daughter lead us to speculate on the possibility of a familial predisposition to this entity or its variants.

Adult↗
PubMed1981

Late-recurring calcifying adenoid cystic carcinoma. Report of a case.

A recurring adenocystic carcinoma originating in the floor of the maxillary antrum in a 75-year-old man is described. The primary tumour had been surgically removed from the mucous membrane of the hard palate 22 years earlier. Histological examination showed deposits of calcification in the tumour tissue. The authors believe this feature to be a sign of the slow-growing variant of adenocystic carcinoma.

Aged↗
PubMed2004

CYP3A4 genetic variant and disease-free survival among white and black men after radical prostatectomy.

PURPOSE: Prostate cancer is an androgen sensitive disease. Cytochrome P450 3A4 (CYP3A4) oxidatively deactivates testosterone by converting it to biologically less active metabolites. Previous studies suggest that a germline genetic variant in the 5' regulatory region of the gene may interfere with deactivation and increase the risk of clinically advanced prostate cancer. We investigated the impact of this polymorphism on the risk of recurrence after prostatectomy. MATERIALS AND METHODS: We assembled clinical data and analyzed specimens from a large series of patients who underwent prostatectomy who were carefully staged at a single institution and had 5 to 10 years of prospective clinical followup. The series included 428 white men and 309 black men. RESULTS: Stage, Gleason score or preoperative prostate specific antigen strongly predicted progression-free survival (PFS) but were not associated with CYP3A4 genotypes. There was a strong association between race and genotype (p = 0.00002) in that 8% of white men and 83% of black men had 1 or more copies of the G allele. When both races were included genotype was associated with PFS (hazard ratio [HR] 1.27, CI 1.08-1.27, p = 0.005). In race specific analyses increasing copies of the G allele were associated with poorer PFS among white men (HR 1.98, CI 1.06-3.70, p = 0.03) but had little impact on PFS among black men (HR 1.004, CI 0.77-1.32, p = 0.97). CONCLUSIONS: The CYP3A4 genotype studied was not associated with pathological features of prostate cancer for men of either race. Unstratified analyses of men of both races and stratified analyses of white men demonstrated poorer PFS after prostatectomy for those with the G allele, but the G allele did not predict PFS among black men.

Aged↗
PubMed1979

Müllerian adenosarcoma of the uterine body: a report of nine cases.

Nine cases of Mullerian adenosarcoma of the uterine body, first defined in 1974 by Clement & Scully, are described. The tumour usually occurs in elderly women and appears macroscopically as a polypoid mass filling the uterine cavity. Histologically these neoplasms are characterized by having a benign epithelial component set in a sarcomatous stroma. The epithelial element consists of tubular glands, cystically dilated glands and a surface epithelium. The glandular and surface epithelium usually resembles that of proliferative endometrium but may be of mucinous type and can undergo squamous metaplasia. Occasional mitotic figures, multilayering and intraluminal tufting are seen in the actively growing but benign glands which are considered to be an integral component of the tumour. The sarcomatous stroma contains spindle cells, round cells and, less frequently, multinucleated giant cells and rhabdomyoblasts. The Mullerian adenosarcoma represents a relatively benign variant of the mixed mesenchymal sarcoma of the uterus and is probably more common than is generally realized. Myometrial invasion is rarely deep and the majority of patients with this neoplasm survive. Vaginal recurrence occurs only in a minority of patients and distant metastasis is exceptional.

Aged↗
PubMedDate not supplied

Orbitotomy for retrobulbar malignant fibrous histiocytoma in a dog.

A retrobulbar malignant fibrous histiocytoma was diagnosed in a 12-year-old castrated male Keeshond dog. The mass was excised with a lateral orbitotomy and zygomatic arch resection. Vision was preserved in the affected eye, and no recurrence was noted up to 10 months postoperatively. Malignant fibrous histiocytoma originates from primitive mesenchymal stem cells. The malignant fibrous histiocytoma seen in our patient was most consistent with the storiform-pleomorphic variant, given the storiform arrangement of spindle cells, the presence of histiocytoid cells, and a mixed inflammatory infiltrate, without giant cells. The metastatic potential of malignant fibrous histiocytoma in general, and the storiform variant in particular, is unknown. Seventeen months later the dog was presented to the referring veterinarian with anorexia, diarrhea, weight loss and bilateral purulent nasal exudates. The dog was euthanized without necropsy.

Animals↗
PubMed1997

Solitary intracerebral juvenile xanthogranuloma. Case report and review of the literature.

A case of an intracerebral juvenile xanthogranuloma (JXG) producing complex-partial seizures in a 13-year-old boy is presented. Although the child had no history of JXGs or a systemic histiocytic proliferative disorder, the histopathological and immunocytochemical studies of this lesion were identical to that of a cutaneous JXG. This represents the first description of an isolated intracerebral JXG. On extensive review of the literature, this case comprises only the second reported intracranial lesion and the fourth CNS lesion in a child without cutaneous manifestations of JXG. In contrast to cerebral xanthogranulomas of adulthood, all reported cases of isolated CNS JXG presented with focal symptoms referable to the neuroanatomic localization of the lesion. In this limited series, the magnetic resonance imaging appearance was predictable and consistent, although spinal and intracranial lesions differ with respect to their enhancement with paramagnetic contrast media. While complete surgical excision, if feasible, has been the most utilized form of therapy for symptomatic or progressive lesions, external beam irradiation and cytotoxic chemotherapy have been utilized for unresectable or recurrent disease. Given their rare occurrence and uncertain natural history, it remains unclear whether these solitary CNS lesions represent a distinct clinical entity with a potentially more aggressive clinical course or merely a variant of the systemic non-Langerhans cell histiocytoses.

Adolescent↗
PubMed1977

Familial hypokalaemic periodic paralysis in papua nuiginians--a reappraisal.

Studies of 11 Papua Nuiginians with recurrent muscular paralysis are presented. The clinical pattern, the geographical clustering, the lack of relation with dietary change, and the normal aldosterone levels in two patients support the view that it is a variant of familial hypokalaemic periodic paralysis.

Adolescent↗
PubMed2001

[Method of surgical treatment of the thyroid gland from mini-approach].

Two variants of mini-approach 2 cm long were developed. They permitted to perform safe 39 various operations on thyroid gland with favorable short- and long-term results. The procedure may include recurrent nerve imaging. Binocular vision is necessary. Using this technique, unilateral lobectomy with isthmus removal for solitary and multinodular unilateral goiter was performed in 15 patients, bilateral subtotal lobectomies--in 18 patients with bilateral nodular goiter. Bilateral lobectomy (thyreoidectomy) was performed in 6 patients because of advanced disease.

Adult↗
PubMedDate not supplied

Predictive relevance of soluble CD44v6 serum levels for the responsiveness to second line hormone- or chemotherapy in patients with metastatic breast cancer.

Concentrations of soluble CD44 standard (sCD44std) and CD44 variant 6 (sCD44v6) isoforms were determined in the sera of 59 patients with distant metastasis from breast cancer receiving second line hormone- or chemotherapy, in comparison to 46 breast cancer patients without detectable recurrent disease and 21 healthy blood donors. The sera of non-metastatic breast cancer, patients contained sCD44std and sCD44v6 concentrations similiar to those of healthy blood donors. In sera of patients with distant metastasis from recurrent breast cancer the median values of sCD44std and sCD44v6 were significantly higher (sCD44std: 502 ng/ml, p=0.03; sCD44v6: 193 ng/ml, p = 0.002) in comparison to healthy blood donors and patients with non-metastatic disease (p<0.001 for both parameters). A significant correlation was observed between sCD44v6 serum concentrations and the number of metastasized organs (p=0.0018), serum LDH concentrations (p<0.0001), tumor grading (p=0.025) and the presence of hepatic metastasis (p=0.028). Furthermore, sCD44v6 expression was associated with the patient's responsiveness to second line hormone- or chemotherapy. Non-responders had significantly higher sCD44v6 levels compared with the responder group (median: 447 ng/ml vs 171 ng/ml; p=0.0007). Logistic regression analysis indicated that sCD44v6 serum levels above 250 ng/ml (p =0.033) and the presence of hepatic metastasis (p=0.009) were independent factors predicting an unfavourable response to therapy.

Adult↗
PubMed1996

DNA analysis and S-phase fraction determination by flow cytometric analysis of infiltrating lobular carcinoma of the breast.

Flow cytometric analysis was performed on 50 infiltrating labular carcinomas (ILCs) of the breast from 50 patients with clinical follow-up (average duration, 4.1 yr) who had been treated between 1976 and 1991. The patients were classified as alive with no evidence of disease, alive with disease, or dead of disease. Ploidy and S-phase fraction (SPF) were compared with clinical outcome, histologic pattern (classical versus variant patterns), nuclear grade 1 or 2, axillary lymph node status, tumor size, percentage of signet ring cells, and estrogen receptor status. There was no association between aneuploid or diploid ILC and disease recurrence (of those patients classified as alive with no evidence of disease plus dead of disease, 4 (40%) of 10 were aneuploid and 15 (38%) of 40 were diploid), survival (of those classified as alive with no evidence of disease plus alive with disease, 9 (90%) of 10 were aneuploid and 36 (90%) of 40 were diploid), or any of the other factors evaluated. However, ILCs with a high SPF were more likely to recur than those with a low SPF (a high SPF was found in 9 [56%] of 16; a low SPF was found in 9 [30%] of 30), but this relationship was not statistically significant (P = 0.08). When only diploid ILCs were considered, there was a statistically significant association between high SPF and recurrence (a high SPF was found in 9 [64%] of 14, a low SPF was found in 6 [24%] of 25, P = 0.033). After the stratification of the diploid ILCs by the stage of disease, this relationship persisted only in Stage 1 (recurrence: a high SPF was found in 3 [75%] of 4; a low SPF was found in 1 [9%] of 11, P = 0.033). There was no association between SPF and any of the other factors evaluated. Our study indicates that ILC is usually diploid and that SPF may be a prognostic indicator that is limited to Stage 1 disease.

Breast Neoplasms↗
PubMed1997

The antiphospholipid/cofactor syndromes. II. A variant in patients with systemic lupus erythematosus with antibodies to beta 2-glycoprotein I but no antibodies detectable in standard antiphospholipid assays.

OBJECTIVE: After the initial description of the anticardiolipin syndrome inpatients with systemic lupus erythematosus (SLE), it became clear that phospholipids other than cardiolipin could also be involved, that there could also be a primary syndrome, and that protein cofactors participate in in vitro reactivity of the autoantibodies. We describe 5 patients with SLE with clinical manifestations of antiphospholipid syndrome (APS) but persistently negative antiphospholipid antibodies (aPL). In all their tested sera we found antibodies to phospholipid-free beta 2-glycoprotein I (a beta 2-GPI). METHODS: We studied 5 patients with SLE with at least 2 clinical manifestations of APS with no serum aPL detected in routine assays. IgG and IgM a beta 2-GPI were studied by ELISA and by Western blot. We also tested for antibodies to phosphatidylcholine, phosphatidylethanolamine, and phosphatidylserine by ELISA. We studied 54 normal sera as controls. RESULTS: Four patients had livedo reticularis, 2 had thrombocytopenia, 2 had hemolytic anemia, and one each had recurrent venous thromboses, repeated fetal loss, pulmonary arterial hypertension, and transverse myelitis. No patient had serum aPL, but all had high titers of IgG a beta 2-GPI (p < 0.001 vs controls). Reactivity found in ELISA was confirmed by Western blot. CONCLUSION: We describe a variant of APS in patients with SLE with negative aPL but serum antibodies to beta 2-GPI.

Adult↗
PubMed2000

Surgical and pathological basis for interval appendicectomy after resolution of appendicular mass in children.

BACKGROUND/PURPOSE: The role of appendicectomy after the resolution of appendicular mass is debatable. A study was conducted to evaluate whether surgical and pathological features of the excised appendices favor the operation in the quiescent period. METHODS: During a 60-month period, 59 patients were admitted in our unit with a diagnosis of appendicular mass and were treated initially with conservative management. Five patients failed to respond to this management and they were operated on immediately. RESULTS: Fifty-four patients recovered fully, and relatives were advised to bring them back to the hospital for appendicectomy on a scheduled date after 6 weeks. Fifteen of 54 (27.7%) patients did not return, but the other 7 came back because they had symptoms of recurrent appendicitis. The remaining 32 patients underwent appendicectomy as scheduled. The surgical findings and pathological features of excised appendices showed various abnormalities. CONCLUSIONS: Considering these features it could be concluded that delayed appendicectomy is unjustified in patients with absent appendix or with its lumen obliterated, whereas the other remaining patients who harbored normal, thickened, fibrotic, transected, stump, and appendix with chronic inflammation or containing fecal casts would benefit from operation. Because we have no method to date to distinguish between these variants "in situ" delayed appendicectomy seems beneficial for all the patients who respond well to the initial management of appendicular mass.

Appendectomy↗