Publications by authors named "Savita Ries"

A 51-year-old woman with a history of diabetes mellitus and anemia sought treatment at the emergency room for a 2-month history of dry cough and shortness of breath and a 1-week history of substernal chest tightness. One month before her presentation, she was seen at a separate hospital for dyspnea and was found to be anemic. She underwent chest radiography and CT scanning of the chest that was unrevealing to the cause of dyspnea.

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The current algorithm for Lynch syndrome diagnosis is highly complex with multiple steps which can result in an extended time to diagnosis while depleting precious tumor specimens. Here we describe the analytical validation of a custom probe-based NGS tumor panel, TumorNext-Lynch-MMR, which generates a comprehensive genetic profile of both germline and somatic mutations that can accelerate and streamline the time to diagnosis and preserve specimen. TumorNext-Lynch-MMR can detect single nucleotide variants, small insertions and deletions in 39 genes that are frequently mutated in Lynch syndrome and colorectal cancer.

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Primary clitoral malignancies are rare and most are invasive squamous cell carcinomas. Microcystic adnexal carcinoma (MAC) is an indolent, rare dermatologic carcinoma that typically affects the head and neck region. A 23-year-old nulligravid Hispanic female presented with a 9-month history of an enlarging periclitoral mass.

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A rare case of a spindle cell (sarcomatoid) B-cell lymphoma is described. The patient, a 48-year-old male, presented with a several month history of an enlarging lesion on the scalp. Although there have been a few recent reports of cutaneous sarcomatoid lymphomas, this case is especially unusual because it presented as a scarlike plaque rather than a tumor and microscopically exhibited a prominent myxoid matrix.

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