Search

AimsSmall cell lung cancer (SCLC) carries a poor prognosis, and the systemic therapies currently used as treatments are only modestly effective, as demonstrated by a low 5-year survival at only ∼5%. In this retrospective collected from March 2013 to study, we performed comprehensive genomic profiling of 98 small cell undifferentiated lung cancer (SCLC) samples to identify potential targets of therapy not currently searched for in routine clinical practice.MethodsDNA from 98 SCLC was sequenced to high, uniform coverage (Illumina HiSeq 2500) and analysed for all classes of genomic alterations.ResultsA total of 386 alterations were identified for an average of 3.9 alterations per tumour (range 1–10). Fifty-two (53%) of cases harboured at least 1 actionable alteration with the potential to personalise therapy including base substitutions, amplifications or homozygous deletions in RICTOR (10%), KIT (7%), PIK3CA (6%), EGFR (5%), PTEN (5%), KRAS (5%), MCL1 (4%), FGFR1 (4%), BRCA2, (4%), TSC1 (3%), NF1 (3%), EPHA3 (3%) and CCND1. The most common non-actionable genomic alterations were alterations in TP53 (86% of SCLC cases), RB1 (54%) and MLL2 (17%).ConclusionsGreater than 50% of the SCLC cases harboured at least one actionable alteration. Given the limited treatment options and poor prognosis of patients with SCLC, comprehensive genomic profiling has the potential to identify new treatment paradigms and meet an unmet clinical need for this disease.

Objectives To characterize the number of granulocytes needed to count on peripheral smear to identify diagnostic anaplasmosis morulae. Methods Retrospective case study where the peripheral smears of 14 confirmed cases of anaplasmosis were examined. The granulocytes were counted up to 100 and 200 until a morula was identified. The mean counts of three pathologists were calculated to determine the minimum number of granulocytes needed to count for identifying diagnostic morulae. Results Morulae were identified before a count of 100 granulocytes in 11 (78.6%) cases and between 100 and 200 granulocytes in 3 (21.4%) cases. All 14 (100%) cases had morulae identified before counting 200 granulocytes. Conclusions Peripheral smears are a useful, cost-effective, and time-effective tool for diagnosing anaplasmosis. In positive cases, diagnostic morulae can be identified with a count of 200 granulocytes.

Pigmented epithelioid melanocytoma (PEM) is a tumor encompassing epithelioid blue nevus of Carney complex (EBN of CNC) and was previously termed animal-type melanoma. Histologically PEMs are heavily pigmented spindled and epithelioid dermal melanocytic tumors with infiltrative borders, however, their origin remains unclear. Stem cells for the epidermis and hair follicle are located in the bulge area of the hair follicle with the potential to differentiate into multiple lineages. Multiple cutaneous carcinomas, including follicular cutaneous squamous cell carcinoma (FSCC), are thought to arise from stem cells in the follicular bulge. We present two cases of PEM/ATM in a 63 year-old male on the scalp with follicular origin and a 72 year-old female on the upper back arising in an intradermal nevus. Biopsy of both cases revealed a proliferation of heavily pigmented dermal nests of melanocytes with atypia. The Case 1 tumor was in continuation with the outer root sheath of the hair follicle in the bulge region. Case 2 arose in an intradermal melanocytic nevus. Rare mitotic figures, including atypical mitotic figures, were identified in both cases. We present two cases of PEM, with histologic evidence suggesting two origins: one from the follicular bulb and one from an intradermal nevus.

Pharmacologic inhibition of tumor necrosis factor-alpha (TNF-α) has been used in the management of a variety of inflammatory conditions. Recently, reports on the development of sarcoid-like granulomatous disease at multiple systemic sites after treatment with TNF-α inhibitors have emerged, although, to the authors' knowledge, orbital manifestations of this problem have not been previously described. A 48-year-old woman who received injections of adalimumab for the treatment of psoriatic arthritis developed right-sided orbital pain and inflammation. Orbital biopsy of a focal lesion demonstrated sarcoid-like granulomatosis, and a workup for other causes of this problem was noncontributory. This report represents the first documented case of this phenomenon in the orbit, and possible mechanisms are discussed in this presentation. Given the expanding role of TNF-α inhibitors and the increased frequency of their use, clinicians should be aware of this possible side effect.