Optical genome mapping identifies a novel pediatric embryonal tumor with a ZNF532::NUTM1 fusion.

The molecular characteristics of pediatric brain tumors have not only allowed for tumor subgrouping but have led to the introduction of novel treatment options for patients with specific tumor alterations. Therefore, an accurate histologic and molecular diagnosis is critical for optimized management of all pediatric patients with brain tumors, including central nervous system embryonal tumors. We present a case where optical genome mapping identified a ZNF532::NUTM1 fusion in a patient with a unique tumor best characterized histologically as a central nervous system embryonal tumor with rhabdoid features. Additional analyses including immunohistochemistry for NUT protein, methylation array, whole genome, and RNA-sequencing was done to confirm the presence of the fusion in the tumor. This is the first description of a pediatric patient with a ZNF532::NUTM1 fusion, yet the histology of this tumor is similar to that of adult cancers with ZNF::NUTM1 fusions reported in the literature. Although rare, the distinct pathology and underlying molecular characteristics of the ZNF532::NUTM1 tumor separates this from other embryonal tumors. Therefore, screening for this or similar NUTM1 rearrangements should be considered for all patients with unclassified central nervous system tumors with rhabdoid features to ensure accurate diagnosis. Ultimately, with additional cases, we may be able to better inform therapeutic management for these patients. © 2023 The Pathological Society of Great Britain and Ireland.

The efficacy of medical management of leiomyoma-associated heavy menstrual bleeding: a mini review.

Leiomyomas, or fibroids, are benign uterine tumors that are commonly associated with abnormal uterine bleeding-L particularly heavy menstrual bleeding (HMB). Treatment options include expectant, medical, image-guided, and surgical. Medical management of HMB is the preferred first-line treatment and includes nonsteroidal anti-inflammatory drugs, contraceptive hormones, tranexamic acid, levonorgestrel intrauterine system, gonadotropin-releasing hormone (GnRH) antagonists and antagonists, selective progesterone receptor modulators, selective estrogen receptor modulators, and aromatase inhibitors. Although alternatives such as vitamins and supplements have been suggested, there is currently a lack of robust evidence of their efficacy. Many of these therapies treat the symptoms rather than the underlying pathology. Progestin-based therapies are the most commonly utilized, although research supporting their effectiveness in the treatment of HMB is modest. Although GnRH agonists and antagonists, which are federal drug administration-approved therapies, provide substantial improvement in abnormal uterine bleeding-L with HMB, the effects typically last for the duration of therapy. Patients may also face financial barriers to GnRH analog therapy. Future studies are required to delineate the nonhormonal treatment options and the long-term management of leiomyoma-associated HMB.

Changes in adenomyosis following elagolix vs leuprolide treatment in a patient with pelvic pain and infertility: A case report.

Adenomyosis is a uterine form of endometriosis that poses unique challenges in the management of infertility. Severe pelvic pain and menorrhagia associated with these conditions are commonly managed with intramuscular injections of a gonadotropin-releasing hormone agonist (leuprolide acetate). Since receiving approval by the US Food and Drug Administration in 2018, a novel oral gonadotropin-releasing hormone antagonist, elagolix, has also been increasingly used to manage endometriosis-associated pain. However, the efficacy of elagolix in the treatment of adenomyosis and infertility remains uncertain. In this clinical case of an infertile patient with endometriosis and diminished ovarian reserve, treatment with elagolix effectively controlled her severe endometriosis-related pelvic pain but, surprisingly, failed to prevent concurrent progression of adenomyosis. Subsequently, elagolix was changed to treatment with leuprolide acetate, which led to improvement of adenomyosis in preparation for an embryo transfer during an in vitro fertilization cycle. Women's health providers should be aware that elagolix may not as effectively suppress adenomyosis as leuprolide acetate, particularly in infertility patients undergoing treatment with assisted reproductive technologies.