ABSTRACT
Superficial angiomyxoma is a rare cutaneous and benign lesion. We present a case of congenital presentation of a superficial angiomyxoma in the parotid region in a 9-year- old female that was misdiagnosed as a parotid tumor. Appropriate diagnosis is important since such lesions have a good prognosis and rarely affect deeper structures. Possibility of superficial angiomyxoma should be kept in mind in the differential diagnosis of lesions of the parotid region.
Subject(s)
Myxoma/congenital , Myxoma/diagnosis , Skin Neoplasms/congenital , Skin Neoplasms/diagnosis , Child , Diagnosis, Differential , Female , Humans , Myxoma/pathology , Parotid Neoplasms/diagnosis , Parotid Region/pathology , Skin Neoplasms/pathologyABSTRACT
CONTEXT: Gastric adenocarcinoma (GAC) is a common malignancy with high mortality-rate. Analysis of molecular markers could form a foundation for the future use of targeted therapies to reduce morbidity and mortality. AIMS: To find the prevalence and relation of epithelial cadherin (E-cadherin) and human epidermal growth factor receptor 2 (HER-2/neu) protein expression with histological type and grade of GAC using immunohistochemistry (IHC). MATERIALS AND METHODS: A total of 100 cases of GAC diagnosed over a 2 year period were studied. Expression of E-cadherin and HER-2/neu was analyzed by IHC in relation to the histological type and grade. RESULTS: Of the 100 cases of GAC studied, 11 revealed a loss of E-cadherin and over-expression of HER-2/neu was seen in 17 cases. Loss of E-cadherin was seen in 50% of signet ring-cell carcinomas but only in 8% of tubular and none of papillary and mucin-secreting GAC (P = 0.003). Of all the cases of tubular GAC with loss of E-cadherin expression, majority (71.4%) were Grade III (P = 0.04). Of all the tubular GAC cases with an over-expression of HER-2/neu, 20% and 67% were Grade I and II GAC respectively while only 13% were Grade III (P < 0.001). CONCLUSIONS: Although poorly-differentiated tumors show loss of E-cadherin, better-differentiated tumors over-express HER-2/neu protein. Signet ring-cell carcinoma is more likely to exhibit a loss of E-cadherin protein. Targeted therapy toward HER-2/neu in GAC should be considered. Novel therapy to block E-cadherin down-regulation is justified.
Subject(s)
Adenocarcinoma/diagnosis , Adenocarcinoma/pathology , Cadherins/analysis , Immunohistochemistry/methods , Receptor, ErbB-2/analysis , Stomach Neoplasms/diagnosis , Stomach Neoplasms/pathology , Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Severity of Illness IndexABSTRACT
Hemoglobin (Hb) E mutation is common in north-east part of our country. The natural history of Hb E thalassemia is highly variable. The phenotype, for patients with similar mutations, can range from asymptomatic to transfusion dependent. Our patient presented at 2 years of age with failure to thrive and hepatosplenomegaly. Routine work up revealed microcytic, hypochromic red blood cells. Hb E homozygous was indicated on electrophoresis and hemoglobin HPLC. Evaluation of parents revealed Haemoglobin E trait in both. Therapeutic splenectomy revealed Gaucher-like cells. ß-Glucocerebrosidase levels were low. Presence of Gaucher-like cells with normal ß-glucocerebrosidase (pseudo-Gaucher cells) are known in leukemia, multiple myeloma, thalassemia and mycobacterial infections. Co-existence of Gaucher's disease with Hb E mutation is not reported to the best of our knowledge.
