Immune cell quantitation in normal breast tissue lobules with and without lobulitis.

While the immune microenvironment has been investigated in breast cancers, little is known about its role in non-malignant breast tissues. Here we quantify and localize cellular immune components in normal breast tissue lobules, with and without visible immune infiltrates (lobulitis). Up to ten representative lobules each in eleven normal breast tissue samples were assessed for B cells (CD20), cytotoxic T cells (CD8), helper T cells (CD4), dendritic cells (CD11c), leukocytes (CD45), and monocytes/macrophages (CD68). Using digital image analysis, immune cell densities were measured and compared between lobules with/without lobulitis. 109 lobules in 11 normal breast tissue samples were evaluated; 31 with lobulitis and 78 without. Immune cells showed consistent patterns in all normal samples, predominantly localized to lobules rather than stroma. Regardless of lobulitis status, most lobules demonstrated CD8+, CD11c+, CD45+, and CD68+ cells, with lower densities of CD4+ and CD20+ cells. Both CD11c+ and CD8+ cells were consistently and intimately associated with the basal aspect of lobule epithelium. Significantly higher densities of CD4+, CD8+, CD20+, and CD45+ cells were observed in lobules with lobulitis. In contrast, densities of monocytes/macrophages and dendritic cells did not vary with lobulitis. In normal breast tissue, myeloid and lymphoid cells are present and localized to lobules, with cytotoxic T and dendritic cells directly integrated with epithelium. Lobules with lobulitis have significantly more adaptive immune (B and T) cells, but no increase in dendritic cells or monocytes/macrophages. These findings indicate an active and dynamic mucosal immune system in normal breast tissue.

Detection of a novel FH whole gene deletion in the propositus leading to subsequent prenatal diagnosis in a sibship with fumarase deficiency.

Fumarase deficiency is a rare autosomal recessive metabolic condition. We report on a sibship with molecularly confirmed fumarase deficiency. Prenatal findings included agenesis of the corpus callosum, ventriculomegaly, and ventriculoseptal defect. The postnatal course was significant for metabolic acidosis ultimately leading to death around 3 weeks of age. Postmortem findings were noted including swollen mitochondria with abnormal cristae on electron microscopy within the liver. Molecular testing revealed a novel whole gene deletion in conjunction with a point mutation. While the point mutation has been previously reported, the detection of a whole gene deletion has not been described to date in an individual with fumarase deficiency.

Cardiac neuroendocrine tumor with absence of sustentacular cells: immunohistochemical and ultrastructural findings.

A 68-year-old male presented with increased shortness of breath and intermittent chest pain. Cardiac catheterization along with echocardiogram imaging demonstrated 3-vessel coronary artery disease with severe left ventricular dysfunction and critical aortic stenosis. During coronary artery bypass surgery, a tumor was identified at the sulcus between the aorta and the right atrial appendage. This highly vascular tumor extended over the right coronary artery, prompting biopsy and further resection. Light microscopic evaluation showed packets of uniform round neoplastic cells without evidence of necrosis or increased mitotic figures. Immunohistochemical studies were positive for synaptophysin and weakly positive for chromogranin. Pankeratin, S-100, and GFAP stains were all negative. Ultrastructural examination of the neoplasm demonstrated numerous electron-dense secretory granules within the cytoplasm of the tumor cells. These secretory granules varied in size from 60 to 210 nm, with halos encircling many of them, suggesting the likelihood of epinephrine or norepinephrine granules. Within the specimen, abundant vascular spaces were identified, but no sustentactular cells were present. The patient agreed to undergo genetic testing, and a mutation in the succinate dehydrogenase complex subunit B (SDHB) was identified. This confirmed the molecular diagnosis of hereditary paraganglioma/pheochromocytoma syndrome. Now two years out from surgery, this patient continues to be asymptomatic in spite of the fact that his tumor was only partially resected.

Uterine pleomorphic rhabdomyosarcoma: a case report and review of literature.

Primary pleomorphic rhabdomyosarcoma of the uterus is a very rare neoplasm. We describe a 65-year old female with this diagnosis, who underwent an abdominal hysterectomy with bilateral salpingo-oophorectomy and lymph node dissection. Also included is a discussion on the different types of rhabdomyosarcoma with reviews of their histological features, epidemiology and common sites of origin.

Opting for Christian Science vs. surgical removal: a case report of a giant basal cell carcinoma arising on the back of a 66-year-old man.

Basal cell carcinoma is the most common form of skin cancer, with giant basal cell carcinoma comprising only 0.5 percent of all basal cell carcinomas. When a basal cell carcinoma is larger than 5 cm, it is designated as a giant basal cell carcinoma. Neglect is often a contributing factor to these lesions, and local recurrence and metastasis is not uncommon. Presented is a case of a 66-year-old man who presented with a chief complaint of increasing shortness of breath and fatigue. The patient was found to have a large 15 cm x 12 cm pedunculated tumor on his back that had been present for 10 years. The patient had forgone medical attention until presenting with a symptomatic anemia due to his belief in Christian Science, which relies on prayer and divine healing for the treatment of illness. Christian Scientists are allowed to see physicians, but they may present with advanced symptoms or disease presentations due to their beliefs. Fortunately, a computed tomography (CT) scan revealed that the tumor was confined to the skin, and biopsy revealed a basal cell carcinoma. Thus, the patient was able to undergo a wide local excision and split thickness skin graft with clear surgical margins.

An aggressive "double-hit" lymphoma occurring in a 42-year-old male with both MYC and t(14;18) translocations.

We describe a 42-year-old male who was in good health until he presented with a high grade B-cell non-Hodgkin lymphoma/leukemia that had both MYC and t(14;18) translocations. This process has now been classified as "B-cell lymphoma, unclassifiable, with features intermediate between diffuse large B-cell lymphoma and Burkitt lymphoma," according to the 2008 World Health Organization Classification of Tumours of Haematopoitic and Lymphoid Tissues. The clinical presentation, pathologic work-up including examination of the peripheral blood, lymph node biopsy, bone marrow aspiration and biopsy are included. Treatment consisted of seven cycles of chemotherapy following the CALGB protocol 9251. Prognosis is generally reported as poor in these aggressive "double-hit" lymphomas. However, this patient's disease has now been in remission for two years.

A rare case of synchronous invasive ductal carcinoma of the breast and follicular lymphoma.

Synchronous presentation of breast cancer and lymphoma is extremely rare. Few cases are reported in the literature. We describe a case of invasive ductal carcinoma of the breast with micrometastasis to a non-sentinel lymph node and subsequent incidental finding of a low-grade follicular lymphoma in an axillary node of a 52-year-old woman. The characteristic immunohistochemical profile of the lymphoma is described.

Epidermoid cyst of the clitoris: an unusual cause of clitoromegaly in a patient without history of previous female circumcision.

STUDY OBJECTIVE: To describe a rare cause of clitoromegaly. SETTING: University Medical Center. PARTICIPANTS: Patient. INTERVENTION: Magnetic resonance imaging, surgical resection of the cyst, clitoroplasty. RESULTS: Clitoroplasty with removal of the intradermal cyst and resolution of pain. CONCLUSIONS: A 17-year-old immigrant female presented with clitoral pain associated with clitoromegaly. Epidermoid cysts are usually solitary, asymptomatic, slow-growing, proliferations of epidermal cells that are commonly present on the neck, scalp, face, or trunk. There have only been four reported cases of epidermoid cysts of the clitoris not associated with female genital mutilation. The cyst in this case was removed by local excision, and the patient's pain has resolved.