BACKGROUND:The cytodiagnosis of melanoma in fine-needle aspiration (FNA) specimens can be challenging, often requiring the use of immunocytochemistry. As constitutively activating mutations in the BRAF oncogene are present in at least 40% of melanomas, the use of FNA material to interrogate the BRAF mutational status is likely to increase. Because cell blocks, traditionally used for these studies, can occasionally exhibit insufficient tumor cellularity, the authors investigated the utility of direct smears for immunocytochemistry and BRAF mutational analysis. METHODS: Immunocytochemistry for S-100, HMB-45, and Mart-1 was prospectively performed on direct smears in 17 FNAs of metastatic melanoma. Next, BRAF sequencing was performed using DNA isolated from archived Diff-Quik-stained direct smears for 15 cases.In parallel, sequencing was performed using DNA obtained from corresponding cell blocks. RESULTS: S-100 positivity in the tumor cells was observed in all 17 cases. HMB-45 and Mart-1 positivity was noted in 81% and 88% of cases, respectively. All 3 markers were positive in 76% of cases. Next, of the 15 archived melanoma FNAs tested, BRAF mutations were observed in 8 (53%); 5 and 3 melanomas harbored the V600E and V600K mutation, respectively. Corresponding cell blocks were also tested for all 15 cases, yielding concordant BRAF results in 14 (93%); 1 cell block yielded a false-negative result. CONCLUSIONS: Cytologic direct smears represent a robust and valuable source of cellular material for immunocytochemistry and molecular studies, especially in instances in which inadequate cell block cellularity is anticipated or encountered. Cancer (Cancer Cytopathol) 2012;120:52-61. V C 2011 American Cancer Society.KEY WORDS: melanoma, BRAF, immunocytochemistry, direct smear, cytology, S-100, HMB-45, Mart-1.In 2010, it is estimated that >68,000 men and women were diagnosed with melanoma and 8700 died of the disease.1 The morbidity and mortality associated with melanoma stems from a multitude of factors including challenges in establishing a diagnosis, limited understanding of the molecular pathogenesis underlying the disease, unpredictable presentation of metastatic foci, and limited treatment options for those with advanced disease. 2,3 Surgical therapy is more effective in patients with localized or early melanoma; however, melanoma that has spread to locoregional lymph nodes or distant sites is largely refractory Fine-needle aspiration (FNA) represents a minimally invasive technique and an accurate, safe, and affordable means to achieve a tissue diagnosis. FNA is therefore becoming an increasingly used modality to establish a diagnosis of metastatic melanoma.3-6 An early definitive diagnosis of metastatic melanoma can facilitate prompt, appropriate management including surgical removal or avoidance of unnecessary surgery and accurate staging of patients in clinical trials. 6Because melanoma can exhibit a variety of cytomorphologic features and mimic other neoplasms such as carcinomas and sarcomas, identifying melanoma...
Most cases of Bowen's disease strongly express p16 but not pRb. In contrast to HPV-associated lesions of the cervical mucosa, p16 overexpression in cutaneous Bowen's disease appears to be unrelated to HPV status. The p16 overexpression in Bowen's disease may reflect disruption of the G1/S checkpoint, resulting in unregulated cell cycle progression.
If you are looking for a broad overview of diseases of the hair and scalp look no further! This text is concise and consists mainly of definitions and brief descriptions of hair and scalp diseases. As you would expect in an atlas, treatment is not the emphasis. The strength of this atlas revolves around 240 high quality pictures, sometimes hard to find in general dermatology textbooks because they represent rare diseases. The pictures are mainly clinical, but one can find a good number of light microscopy and electron microscopy illustrations of hair shaft. There are only a few scalp biopsy illustrations. The book is divided into nine chapters and gives a glimpse of the physiology of hair growth, hair shaft abnormalities, alopecia, excess of hair and abnormalities of the scalp including inflammatory, infectious and tumoral diseases. A 2-hour reading for a dermatologist in training, or a dermatopathologist seeking clinical exposure, will pay back by providing excellent clinical descriptions of a wide variety of hair and scalp diseases.
Needle core biopsies (NCB) are widely used in adults but are less often used for the evaluation of pediatric tumors. To determine the diagnostic utility of NCB for pediatric tumors, we performed a retrospective analysis. Fifty NCB of masses from 1992 to 1998, subsequent pathologic specimens, and medical records were reviewed. All patients were less than 21 years of age. Of the NCB 78% (39/50) were diagnostic of a neoplasm, 8% (4/50) were nondiagnostic in cases where a tumor was subsequently diagnosed, and 14% (7/50) revealed inflammatory or reactive lesions, with no subsequent diagnosis of a neoplasm according to medical record review. In cases in which a neoplasm was present, NCB was diagnostic in 91% (39/43). For cases in which there was a previous diagnosis of a tumor, 100% (9/9) of NCB were diagnostic of a recurrence or metastasis. In cases of NCB for primary tumor diagnosis, 88% (30/34) were diagnostic. The most common problems encountered were related to specimen adequacy, such as insufficient tissue, crush artifact, and tumor necrosis. Tumor diagnoses were as follows: primitive neuroectodermal tumor (PNET)/Ewing sarcoma (12), malignant lymphoma/Hodgkin's disease (8), rhabdomyosarcoma (4), germ cell tumor (3), Wilms' tumor (3), neuroblastoma (1), sarcoma, not otherwise specified (4), and other neoplasms (8). There were no complications of the procedure. NCB of pediatric tumors is an effective diagnostic tool and can be used to obtain diagnostic material quickly and safely. NCB was diagnostic in 90% of cases in this series. When NCB provide sufficient material for immunohistochemical, cytogenetic, flow cytometric, and other ancillary studies, the diagnostic efficacy is enhanced. The major limitations in this series were related to sampling problems and specimen adequacy for comprehensive pathologic evaluation.
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