A 51-Year-Old Woman With Rapidly Progressive Dyspnea.

CASE PRESENTATION: 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. She received a blood transfusion, although no cause of the anemia was found. One week before presentation, she started experiencing dyspnea on exertion with associated chest pressure, prompting her to seek treatment at the emergency room. On presentation, she reported no fevers, night sweats, joint pain, paroxysmal nocturnal dyspnea, orthopnea, edema, palpitations, lightheadedness, or syncope. She noted a 10- to 20-pound involuntary weight loss over 5 to 6 months. Of note, she had never undergone esophagogastroduodenoscopy or colonoscopy. Medications included an oral diabetic medication. She had no significant family history. She never smoked and had no history of illicit drug or alcohol use.

TumorNext-Lynch-MMR: a comprehensive next generation sequencing assay for the detection of germline and somatic mutations in genes associated with mismatch repair deficiency and Lynch syndrome.

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. Moreover, the panel provides microsatellite instability status and detects loss of heterozygosity in the five Lynch genes; MSH2, MSH6, MLH1, PMS2 and EPCAM. Clinical cases are described that highlight the assays ability to differentiate between somatic and germline mutations, precisely classify variants and resolve discordant cases.

Sclerosing ductal carcinoma of the clitoris with microcystic adnexal carcinoma-like features.

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. After surgical resection, the mass was diagnosed as a MAC. MAC is a cutaneous carcinoma rarely found on the vulva. It is a slow growing but locally aggressive carcinoma that is best treated with surgical resection. Sclerosing ductal carcinomas may have MAC-like features, and the diagnosis and management of one case is provided here.

Cutaneous sarcomatoid B-cell lymphoma.

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. Given these features, the lesion was initially interpreted as an atypical fibromucinosis. The differential diagnosis included fibromucinous lesion consistent with variant of lichen myxedematosus, spindle cell carcinoma, spindle cell melanoma, atypical fibroxanthoma, and atypical smooth muscle tumors. Initial immunoperoxidase studies demonstrated negative staining for CD68, factor XIIIa, CD57, cytokeratin(AE1/AE3), S100, EMA, and vimentin, essentially ruling out the previously mentioned neoplasms. Subsequently, strong positive staining for LCA(CD45RB) and CD20 was demonstrated characteristic of a B-cell lymphoma. The patient underwent local radiotherapy with complete resolution. Although all variants of cutaneous sarcomatoid B-cell lymphomas are rare, it is imperative to consider them in the differential diagnosis of otherwise difficult to categorize spindle cell proliferations. This includes neoplasms and, based on the current case, fibromucinoses as well.