Sivakumaran, Theru A.

We present the case of a 12-year-old female who presented with progressive back pain and was found to have a localized mass in the lumbar spine. The resected tissue was characterized by epithelioid cells with a papillary appearance and high mitotic activity. Initial immunohistochemical analysis was consistent with a diagnosis of atypical meningioma. However, comprehensive molecular profiling detected a CRTC1::NCOA2 fusion with a novel NCOA2 gene rearrangement, leading to a revised descriptive diagnosis of epithelioid mesenchymal neoplasm with CRTC1::NCOA2 fusion. This specific fusion has only been reported in 2 other cases involving mesenchymal neoplasms of the palate and urinary bladder. While CRTC1 is frequently associated with MAML2 fusion in mucoepidermoid carcinomas, NCOA2 rearrangements occur in a variety of solid and hematologic malignancies. There is a paucity of information on the prognostic relevance of these fusion partners. This is the first reported case of a CRTC1::NCOA2 fusion in a pediatric patient with a spinal cord malignancy. The mechanistic significance and prognostic implications of this fusion will be discussed.

Dry blood spots (DBS) offer many advantages over other blood banking protocols due to the reduction of time and equipment needed for collection and the ease of processing, storage, and shipment. In addition, the sample size makes it a very attractive method when considering the banking of small pediatric samples. On that note, the Centers for Disease Control and Prevention (CDC) preanalytical standards for DBS are commonly used in the worldwide mass spectrometry-based inborn errors of metabolism screening programs. However, these guidelines may not apply for analytes and protocols not included in these programs. In fact, the availability of leftover samples and the ongoing interest in protocols outside this scenario are providing us with new DBS biobanking insights. Herein, we review the literature for indicators that should be considered in the design of prospective fit for purpose DBS biobanks, especially for those focused mostly on pediatric and OMIC platforms.