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Biomedical subjects

Carol Reynolds

Publications and source records attributed to Carol Reynolds.

29 records · Page 2Linked to original sources

Microglandular adenosis with transition into adenoid cystic carcinoma of the breast.

Microglandular adenosis (MGA) is a well-recognized, if rare and incompletely characterized, entity in which carcinoma is rarely thought to develop. We report 17 cases in which patterns of adenoid cystic carcinoma (ACC) coexisted with MGA. Immunocharacterization with beta-catenin, E-cadherin, cytokeratins (AE1/AE3), epithelial membrane antigen, S-100 protein, smooth muscle actin, and vimentin was also performed. Most cases had areas of invasive ACC characterized by its defining dual-lumen types. Some cases of ACC appeared to have expanded glands intermingled within the MGA, whereas in other cases ACC formed a transition with the characteristic small, gland-like spaces of MGA. MGA and "atypical MGA" stained irregularly and similarly to that seen in myoepithelium with the three markers of myoepithelial cells in breast: S-100 protein, smooth muscle actin, and vimentin. These markers were also positive in the more solid elements of the ACC. Our study suggests that ACC may develop in a background of and in continuity with MGA. Altered myoepithelial cells appear to be the major neoplastic element in both ACC and "atypical MGA." "Atypical MGA" with transition to ACC may show histologic patterns and an immunohistochemical profile similar to that of ACC. These lesions might be best interpreted as ACC in situ. Both MGA and ACC of the breast grow in an expansile and diffusely infiltrative pattern without having significant metastatic capacity. Their unusual interaction with the surrounding stroma may play a role in this benign biologic behavior.

Adult↗

Original report. Mucocele-like tumors of the breast: mammographic and sonographic appearances.

OBJECTIVE: The purpose of our study was to describe the mammographic and sonographic appearances of the mucocele-like tumor of the breast. CONCLUSION: The mucocele-like tumor is a rare lesion of the breast, the benign form of which has a nonspecific mammographic appearance. The tumor can present as indeterminate microcalcifications or as a nodule, often containing calcifications. The sonographic findings are of multiple well-defined hypoechoic oval or tubular structures with low-level internal echoes resembling complex cysts. Mucocele-like tumors of the breast can be associated with atypical hyperplasia or carcinoma. If a mucocele-like tumor is diagnosed at core needle biopsy, complete surgical excision is recommended, with careful evaluation of the entire specimen to exclude the presence of atypia or carcinoma.

Adult↗

Centrosome amplification drives chromosomal instability in breast tumor development.

Earlier studies of invasive breast tumors have shown that 60-80% are aneuploid and approximately 80% exhibit amplified centrosomes. In this study, we investigated the relationship of centrosome amplification with aneuploidy, chromosomal instability, p53 mutation, and loss of differentiation in human breast tumors. Twenty invasive breast tumors and seven normal breast tissues were analyzed by fluorescence in situ hybridization with centromeric probes to chromosomes 3, 7, and 17. We analyzed these tumors for both aneuploidy and unstable karyotypes as determined by chromosomal instability. The results were then tested for correlation with three measures of centrosome amplification: centrosome size, centrosome number, and centrosome microtubule nucleation capacity. Centrosome size and centrosome number both showed a positive, significant, linear correlation with aneuploidy and chromosomal instability. Microtubule nucleation capacity showed no such correlation, but did correlate significantly with loss of tissue differentiation. Centrosome amplification was detected in in situ ductal carcinomas, suggesting that centrosome amplification is an early event in these lesions. Centrosome amplification and chromosomal instability occurred independently of p53 mutation, whereas p53 mutation was associated with a significant increase in centrosome microtubule nucleation capacity. Together, these results demonstrate that independent aspects of centrosome amplification correlate with chromosomal instability and loss of tissue differentiation and may be involved in tumor development and progression. These results further suggest that aspects of centrosome amplification may have clinical diagnostic and/or prognostic value and that the centrosome may be a potential target for cancer therapy.

Aneuploidy↗

Magnetic resonance imaging-guided biopsy of mammographically and clinically occult breast lesions.

BACKGROUND: Breast magnetic resonance imaging (MRI) is a very sensitive technique for detection of breast cancer. We report on MRI-guided needle localization for biopsy of abnormalities seen only on MRI. METHODS: A retrospective review was performed of 231 patients with invasive breast cancer or ductal carcinoma-in-situ who had MRI as part of their evaluation and treatment at the University of Pennsylvania between 1992 and 1998. Clinical, radiological, and pathologic data were examined. RESULTS: MRI needle localization was performed in 41 (18%) patients. MRI needle localization was required for a finding of a mammographically or clinically occult lesion in 31 patients, better MRI definition of tumor in 5 patients, and surgeon's choice in 5 patients. In all cases, MRI localization and excisional biopsy were successfully completed. Nineteen of 31 patients were found to have additional mammographically and clinically occult tumors. There were 12 (29%) false-positive MRI scans. CONCLUSIONS: MRI has a high sensitivity for detection of breast cancer; additional mammographically and clinically occult sites of tumor are detected in approximately 1 (15%) of 7 breast cancer patients. These otherwise occult sites of disease can be appropriately biopsied with MRI needle-localization techniques.

Biopsy↗

Radiation-induced breast sarcoma.

BACKGROUND: The purpose of this study was to examine the presentation, treatment, and prognosis of patients with radiation-induced sarcomas after adjuvant radiotherapy for breast cancer. METHODS: This was a retrospective review from 1975 to 2001 of patients who presented with a sarcoma in an irradiated field after surgical treatment for breast cancer. RESULTS: Thirty-four women were included. Six had undergone breast-conserving therapy and 28 had mastectomy for primary breast carcinoma. All patients received postoperative radiation. The mean time to diagnosis of sarcoma was 152 months (range 40 to 372). Twenty-three of 34 patients (68%) had recurrence of the sarcoma after resection, and 22 patients (65%) died of their disease. Patients with no evidence of disease at follow-up had a mean tumor size of 4.2 cm +/- 0.7 (n = 6), compared with 8.1 cm +/- 1.2 (n = 10) for patients who died of their disease (P = 0.030). CONCLUSIONS: Radiation-induced sarcoma is a late complication of definitive treatment for breast carcinoma. The prognosis of such patients is poor, with two thirds dying of their disease. In the present series, improved survival was associated with smaller tumor size at presentation.

Adult↗

Fibromatosis of the breast and mutations involving the APC/beta-catenin pathway.

Fibromatoses of the breast are nonmetastasizing tumors, but can be infiltrative and locally recurrent. Breast fibromatoses are rare, and their specific genetic alterations have not been elucidated. However, their occasional occurrence in patients with familial adenomatous polyposis (FAP) and their morphologic identification with other deep fibromatoses (desmoid tumors) suggest that alterations of the APC/beta-catenin pathway might be involved in the pathogenesis of sporadic and FAP-associated breast fibromatoses. We analyzed somatic beta-catenin and APC gene mutations in 33 breast fibromatoses (32 sporadic and 1 FAP-associated) using immunohistochemistry for beta-catenin, 5q allelic loss assays, and direct DNA sequencing for exon 3 of the beta-catenin gene and the mutation cluster region of the APC gene. Nuclear accumulation of beta-catenin was present in the stromal tumor cells in most (82%) cases but not in normal stroma or mammary epithelial cells. Somatic alterations of the APC/beta-catenin pathway were detected in 79% of breast fibromatoses, including activating beta-catenin gene mutations in 15 cases and somatic APC alterations (mutation or 5q allelic loss or both) in 11. These findings indicate that alterations of the APC/beta-catenin pathway with resultant nuclear translocation of beta-catenin are important in the pathogenesis of both sporadic and FAP-associated breast fibromatosis. The spectrum of beta-catenin and APC alterations is similar to that described for desmoid tumors of the abdomen, paraspinal region, and extremities.

Adenomatous Polyposis Coli Protein↗

Choristoma of the optic nerve: case report.

OBJECTIVE AND IMPORTANCE: Optic nerve choristoma is a rare lesion composed of adipose tissue and smooth muscle involving the optic nerve. Few cases have been reported. CLINICAL PRESENTATION: A 20-year-old woman presented with a history of slowly progressive visual loss in the left eye. On T1-weighted magnetic resonance imaging studies, after frequency-selective fat saturation, an optic nerve mass was detected at the level of the optic canal with signal characteristics suggesting the diagnosis of optic nerve lipoma. INTERVENTION: At left frontotemporal craniotomy, the intracranial optic nerve appeared thin and atrophic proximally and was covered by abundant adipose tissue distally. Because no cleavage plane could be identified between the fatty lesion and the optic nerve, which appeared splayed within the adipose tissue, the nerve was resected after an intraoperative biopsy. The presence of two heterotopic mesodermal elements, a rim of adipose tissue admixed with bundles of mature smooth muscle, extending into the nerve septa, warranted a diagnosis of optic nerve choristoma. CONCLUSION: Optic nerve choristoma is an uncommon optic nerve lesion. Even if imaging studies are highly suggestive of the diagnosis, pathological confirmation is required because of the high adipose tissue content in the majority of cases. The lesion, most likely malformative and nonneoplastic in nature, can be the cause of progressive visual loss.

Adolescent↗

"Diabetic mastopathy," or sclerosing lymphocytic lobulitis, is strongly associated with type 1 diabetes.

OBJECTIVE: To demonstrate the strong association of diabetic mastopathy or sclerosing lymphocytic lobulitis with type 1 diabetes mellitus by studying appropriate control groups and to describe risk factors and natural history of the disorder. RESEARCH DESIGN AND METHODS: This was a retrospective cross-sectional study of four groups of patients conducted at a setting tertiary care medical center. We examined benign breast biopsies (investigator masked to identity) from age-matched patients with types 1 and 2 diabetes, autoimmune thyroid disease, or none of the above disorders for sclerosing lymphocytic lobulitis. Several risk factors proposed for the disorder (age at diagnosis of benign breast disease, duration of diabetes, age at onset of diabetes, prevalence of retinopathy, neuropathy, nephropathy and cheiroarthropathy, glycemic control, parity, oral contraceptive use, menopausal status, or number of breast biopsies) were evaluated, and patients were contacted to describe the natural history of the disorder. RESULTS: Sclerosing lymphocytic lobulitis was identified in 69.7% of the subjects with type 1 diabetes and 1.8% of those with autoimmune thyroid disease diagnosed with benign breast disease at surgery. It did not occur in patients with type 2 diabetes with or without insulin treatment or in control subjects. Only retinopathy and peripheral neuropathy were associated with sclerosing lymphocytic lobulitis. Breast carcinoma or lymphoma did not occur subsequently in any type 1 diabetes patient with or without sclerosing lymphocytic lobulitis. CONCLUSIONS: Sclerosing lymphocytic lobulitis is strongly associated with type 1 diabetes. Retinopathy and neuropathy are associated with the disorder. The risk of malignancy is not increased.

Adult↗

Intracystic papillary carcinoma of the breast in a male patient diagnosed by ultrasound-guided core biopsy: a case report.

Male breast cancer is an uncommon disease with an incidence of approximately 1% of all breast cancers. We report a case of intracystic papillary carcinoma of the breast occurring in a 67-year-old man in whom the diagnosis was made by ultrasound-guided core biopsy. This report represents the first reported intracystic papillary carcinoma diagnosed by core biopsy and illustrates the cost-effectiveness of this technique in a male patient in providing diagnostic material and allowing for expeditious planning of definitive treatment.

Aged↗

Spontaneous unilateral nipple discharge: when screening tests are negative--a case report and review of current diagnostic management of a pathologic nipple discharge.

We describe a 45-year-old woman who presented with a spontaneous unilateral nipple discharge. With a negative breast examination and screening tests (mammography and ultrasonography) she underwent mammary ductography, which revealed a small 3-4 mm intraluminal filling defect. A core biopsy showed high-grade ductal carcinoma in situ (DCIS). An attempted wide local excision was unsuccessful, and the patient underwent a mastectomy. Pathologic assessment revealed high-grade DCIS and multiple foci of invasive mucinous ductal adenocarcinoma. Rare tumor cells were identified in the subcapsular sinuses in both sentinel lymph nodes. We report this case to point out the importance of the diagnostic examination for patients with a pathologic nipple discharge and review current and possible future diagnostic management.

Biopsy, Needle↗