Renal Medullary Carcinoma with an Aggressive Clinical Course: A Case Report and Review of the Literature.

Renal medullary carcinoma (RMC) is a rare, yet aggressive malignancy of the kidney that is found predominantly in young patients with African descent and sickle cell hemoglobinopathies and most specifically sickle cell trait. Due to its aggressive nature, most cases have metastasis or local invasion at the time of diagnosis. Prognosis is extremely poor with survival less than 1 year after diagnosis. Here we present a case of metastatic RMC in a 29-year-old African female. Despite chemotherapy with cisplatin, gemcitabine, and paclitaxel, and initial shrinkage of the tumor, the patient died 5 months after diagnosis.

Chorea associated with high titers of antiphospholipid antibodies in the absence of antiphospholipid antibody syndrome.

BACKGROUND: Chorea associated with high titers of antiphospholipid antibodies in the absence of antiphospholipid antibody syndrome has been seldom reported. CASE REPORT: An 89-year-old female developed persistent right side chorea associated with high titers of anticardiolipin antibody (antiphospholipid antibosies immunoglobulin (Ig)M, 45 MPL and 112 IgM aCL (MPL) after 3 months) but normal lupus anticoagulants. Her magnetic resonance imaging (MRI) showed no abnormality, but positron emission tomography (PET) demonstrated increased bilateral striatal metabolic activity, more on the left side. Her MRI showed no cause for chorea. The PET scan demonstrated a marked increase in the metabolic activity of the left basal ganglia. DISCUSSION: Her chorea remained unchanged over a 9-month follow-up period. The literature on chorea associated with high titers of antiphospholipid antibodies in the absence of antiphospholipid syndrome is reviewed.

A targetable androgen receptor-positive breast cancer subtype hidden among the triple-negative cancers.

CONTEXT: Triple-negative breast cancer (TNBC) is a subgroup of breast cancers that by definition lack expression of estrogen receptor, progesterone receptor, and human epidermal growth factor receptor 2 (HER2). A diverse group of tumors, TNBC shares some morphologic and molecular features with basal-like breast cancer, a category of breast cancer defined by gene expression profiling. More likely to occur in young women and African Americans, TNBCs may exhibit aggressive behavior and are associated with poor prognosis despite their initial response to conventional chemotherapy. Because hormonal or HER2-targeted therapies are ineffective for these tumors, the main therapeutic option is systemic chemotherapy. Therefore, identification of new targets for therapy is urgently needed for this group. OBJECTIVE: To review and present recent literature along with our own experience regarding the clinical and morphologic characteristics and the prevalence of androgen receptor (AR) expression in TNBC, and to discuss the potential use of AR as a therapeutic target for AR(+) TNBC. DATA SOURCES: Data sources are published articles from peer-reviewed journals in PubMed (US National Library of Medicine). CONCLUSIONS: AR is the most commonly expressed hormone receptor among all breast carcinomas, with a prevalence of 25% to 75% among TNBCs. Therefore, we strongly support the routine assessment of AR in TNBC, and preferably in all breast carcinomas.

Androgen receptor (AR) expression in 400 breast carcinomas: is routine AR assessment justified?

BACKGROUND: Triple negative breast carcinomas (TNBC) do not benefit from hormonal or Herceptin therapies. In search of novel therapeutic targets for TNBC, interest is escalating in a subset of these tumors that are androgen receptor (AR) positive with potential benefit from anti-androgen therapy. Against this background, the frequency of AR expression alone and in combination with other markers and morphologic features was assessed to identify TNBC subtypes for targeted therapy. METHODS: 400 consecutive invasive mammary carcinomas with known estrogen receptor (ER), progesterone receptor (PR), androgen receptor (AR) and HER2 status were selected for study. The frequency of AR positivity alone or in combination with other markers was recorded with specific attention to the morphology of AR+ TNBCs. Ki67 was evaluated in selected group of cases. ASCO/CAP guidelines were used for interpretation of the various biomarkers. RESULTS: Of the 400 tumors, 32 (8%) carcinomas were quadruple negative (ER-, PR-, AR-, Her2-), while 50 tumors (12.5%) were triple negative (ER-, PR-, Her2-); 18 (36%) of the triple negative tumors were AR positive and 10 (55%) of these were classic apocrine carcinomas. Fourteen cases, all apocrine carcinomas, were AR and Her2 positive. All 32 QN carcinomas were poorly differentiated and they had the highest Ki67 labeling index. CONCLUSION: The relatively high proportion of AR+ tumors (36%) among the 50 triple negative carcinomas is an important finding in support of routine assessment of AR in at least all TNBCs and apocrine carcinomas as a potential target for therapy.

Brain metastasis from ovarian cancer: a systematic review.

To review the existing literature on brain metastasis (BM) from ovarian cancer and to assess the frequency, anatomical, clinical and paraclinical information and factors associated with prognosis. Ovarian cancer is a rare cause of brain metastasis with a recently reported increasing prevalence. Progressive neurologic disability and poor prognosis is common. A comprehensive review on this subject has not been published previously. This systematic literature search used the Pubmed and Yale library. A total of 66 publications were found, 57 of which were used representing 591 patients with BM from ovarian cancer. The median age of the patients was 54.3 years (range 20-81). A majority of patients (57.3 %) had multiple brain lesions. The location of the lesion was cerebellar (30 %), frontal (20 %), parietal (18 %) and occipital (11 %). Extracranial metastasis was present in 49.8 % of cases involving liver (20.7 %), lung (20.4 %), lymph nodes (12.6 %), bones (6.6 %) and pelvic organs (4.3 %). The most common symptoms were weakness (16 %), seizures (11 %), altered mentality (11 %) visual disturbances (9 %) and dizziness (8 %). The interval from diagnosis of breast cancer to BM ranged from 0 to 133 months (median 24 months) and median survival was 8.2 months. Local radiation, surgical resection, stereotactic radiosurgery and medical therapy were used. Factors that significantly increased the survival were younger age at the time of ovarian cancer diagnosis and brain metastasis diagnosis, lower grade of the primary tumor, higher KPS score and multimodality treatment for the brain metastases. Ovarian cancer is a rare cause of brain metastasis. Development of brain metastasis among older patients and lower KPS score correlate with less favorable prognosis. The more prolonged survival after using multimodality treatment for brain metastasis is important due to potential impact on management of brain metastasis in future.

Intramedullary metastasis in breast cancer--a comprehensive literature review.

BACKGROUND: Intramedullary breast cancer metastasis (IMBCM) is considered rare but its true incidence is unknown. Previous reviews of this subject are few and provided limited information. OBJECTIVE: To evaluate the precise location(s) of IMBCM, its concurrence rate with brain metastasis, its frequency compared to other cancers, intervals between breast cancer diagnosis and detection of IMBCM and between detection of IMBCM and death, frequency of various clinical symptoms, neuroimaging, cerebrospinal fluid (CSF) and biomarker data, treatment strategies and survival issues. STUDY DESIGN: All relevant literature from 1900 to present was identified through Yale search Engine including but not limited to Medline/Pub Med, Ovid and Erasmus. RESULTS: A total of 36 publications were identified describing 85 patients with IMBCM. Breast cancer was the second highest source of intramedullary metastasis after lung (26.5% versus 45%). Cervical and thoracic cord was equally affected. Presence of thoracic cord lesions (P=0.039), concurrent brain metastasis, bladder dysfunction and Brown-Sequard syndrome were associated with a more unfavorable prognosis. Treatment strategies which included surgery suggested prolonged survival. Patients with breast metastasis to the spinal cord had longer survival than lung metastasis (P=0.05). The data on CSF and tumor markers was too limited to be conclusive. CONCLUSIONS: Introduction of Magnetic Resonance Imaging has significantly increased the detection rate of IMBCM. Factors associated with better prognosis are presented. Definition of the true incidence of IMBCM would require a prospective clinical and neuroimaging study.