Background: Breast carcinoma is a disease with a tremendous heterogeneity in its clinical behavior. Newer prognostic factors and predictors of response to therapy are needed. The aim of this study was to evaluate the expression of HER-2, estrogen receptor (ER) and progesterone receptors (PR) in breast carcinoma and to compare it with other prognostic parameters such as histological type and grade, tumor size, patients' age, and lymph node metastases.
Background: Cerebrospinal fluid (CSF) biomarkers are used to diagnose Alzheimer disease (AD), especially in atypical clinical presentations. No consensus currently exists regarding cut-off values. This study aimed, firstly, to define optimal cut-off values for CSF biomarkers, and secondly, to investigate the most relevant diagnostic strategy for AD based on CSF biomarker combinations. Methods: A total of 380 patients were prospectively included: 140 with AD, 240 with various neurological diagnoses (non-AD). CSF biomarkers were measured using ELISA. Univariate and multivariate analyses were performed using random forest and logistic regression approaches. Results: Univariate receiver operating curve curves analysis of T-Tau, P-Tau 181 , Aβ 42 , Aβ 40 concentrations, and Aβ 42 /Aβ 40 ratio levels showed AD cut-off values of ≥355, ≥57, ≤706, ≥10,854, and ≤0.059 ng/L, respectively. Multivariate analysis using random forest and logistic regression found that the algorithm based on P-Tau 181 , Aβ 42 concentrations and Aβ 42 /Aβ 40 ratio yielded the best discrimination between AD and non-AD populations. The cross-validation technique of the final model showed a mean accuracy of 0.85 and a mean AUC of 0.89. Conclusion: This study confirms that the Aβ 42 /Aβ 40 ratio was more useful than the Aβ 40 concentration in discriminating AD from non-AD populations in daily practice. These results indicate that the Aβ 42 /Aβ 40 ratio should be assessed in all cases, independently of Aβ 42 concentrations.
Regular clinical and histologic examination of any nodular lesions or non healing ulcers of all patients suffering from RDEB-Hallopeau-Siemens to detect an early malignancy is recommended.
EditorSpecific cutaneous expression of B-cell chronic lymphocytic leukaemia (B-CLL), referred as leukaemia cutis (LC), is unusual. 1 Lesions present themselves clinically as solitary, grouped or generalized papules, nodules, plaques or large tumours. 1 Rare clinical manifestations include vesiculobullous eruptions, 1 chronic paronychia and subungual tumours. 2 Even though the occurrence of LC in B-CLL appears to have no impact on the prognosis, it is usually treated.A 72-year-old man presented to our outpatient clinic with multiple asymptomatic erythematous papules and nodules on the back (Fig. 1). Skin lesions appeared progressively in 6 months. The peripheral blood (PB) count was normal: red blood cells (RBC) 4.7 · 10 12 ⁄ L, white blood cells (WBC) 8.3 · 10 9 ⁄ L with 4.32 · 10 9 ⁄ L neutrophils, 2.57 · 10 9 ⁄ L lymphocytes and 228 · 10 9 ⁄ L platelets. The rest of the physical examination was normal. Lesional skin biopsy showed an intense infiltrate in the dermis and subcutis of small lymphocytes containing round, regular and scant cytoplasm with frequent smudge cell morphology. The nuclei had dense chromatin. Occasional mitotic figures were detected. No epidermotropism was found. The neoplastic cells expressed CD19 ⁄ CD20, CD23 and CD5 antigens. The cells were negative for CD3, CD30, CD4 and CD8. Four weeks later, a new
Mayer-Rokitansky-Kuster-Hauser (MRKH) is a characteristic syndrome in which the Mullerian structures are absent or rudimentary. It is also associated with anomalies of the genitourinary and skeletal systems. Its association with gonadal dysgenesis is extremely rare and appears to be fortuitous, independent of chromosomal anomalies. We report such a case in a 21-year-old girl who presented primary amenorrhea and impuberism. The endocrine study revealed hypergonadotrophic hypogonadism. The karyotype was normal, 46, XX. No chromosome Y was detected at the fluorescence in situ hybridization (FISH) analysis. Internal genitalia could not be identified on the pelvic ultrasound and pelvic magnetic resonance imaging. Laparoscopy disclosed concomitant ovarian dysgenesis and MRKH syndrome. There were no other associated malformations. Hormonal substitution therapy with oral conjugated estrogens was begun. The patient has been under regular follow-up for the last two years and is doing well.
Case 1 A 54‐year‐old woman presented with a 5‐month history of an asymptomatic, 2.5‐cm, erythematous, ulcerated nodule involving the umbilicus (Fig. 1). Biopsy demonstrated metastatic adenocarcinoma (Fig. 2) and abdominal ultrasound showed a large ovarian tumor (Table 1). Further evaluation revealed pleural metastases. 1 Erythematous nodule of the umbilicus 2 Proliferation of glandular structures composed of tumor cells with prominent nucleoli and numerous mitoses (hematoxylin and eosin, ×4000) Primary malignancy in five patients with Sister Mary Joseph's nodule Case Age (years) Gender Primary malignancy 154FemaleOvarian adenocarcinoma258MaleColorectal adenocarcinoma342MalePancreatic adenocarcinoma458MaleIleocecal sarcoma558FemaleCholangiocarcinoma Case 2 A 58‐year‐old man was hospitalized with a 6‐month history of diffuse abdominal pain, a 2‐week history of a cutaneous nodule, and a 5‐day history of bloody diarrhea. Cutaneous examination revealed a 1.5‐cm, erythematous to violaceous, infiltrative, and verrucous nodule of the umbilicus (Fig. 3). Colonoscopy showed a pedunculated polyp of the right colon and a loss of substance in the anal area; histologic examination demonstrated well‐differentiated adenocarcinoma. Abdominal ultrasound showed moderate ascites. A diagnosis of colorectal adenocarcinoma (Table 1) with umbilical metastasis and peritoneal carcinomatosis was made. 3 Irregular, infiltrative, verrucous nodule of the umbilicus Case 3 A 42‐year‐old man, with a history of surgery 5 months earlier for a perforated gastric ulcer, was hospitalized with a 2‐month history of abdominal pain and general deterioration. Clinical examination showed a 15‐cm infiltrative area at the central abdomen with coalescing ulcerated papules at the umbilicus (Fig. 4), which developed during the onset of abdominal pain. Histologic evaluation revealed metastatic adenocarcinoma to the skin. Further evaluation supported a diagnosis of pancreatic cancer with peritoneal carcinomatosis (Table 1). 4 Tumor infiltrating the central abdomen, with overlying umbilical nodule Case 4 A 58‐year‐old man presented with a 3‐month history of abdominal pain and a 1‐month history of a painful, bilobed nodular lesion involving the umbilicus. Clinical examination showed a nontender, uniform, and fixed abdominal mass. Colonoscopy revealed a cecal mass. Histologic examination of the cecal mass and umbilical lesion confirmed a diagnosis of ileocecal sarcoma (Table 1). Further evaluation demonstrated peritoneal metastases. Case 5 A 58‐year‐old woman was hospitalized with a 1‐year history of an umbilical lesion, abdominal pain, vomiting, and general deterioration. Examination revealed a 2‐cm hard, fixed, nontender, umbilical tumor and hepatomegaly. Endoscopy showed a gastric ulcer without histologic evidence of malignancy. Additional evaluation demonstrated a gallbladder tumor, hepatic metastases, and peritoneal carcinomatosis (Table 1). Biopsy of the umbilical lesion revealed poorly differentiated adenocarcinoma.
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