Palliative care considerations and practices for adolescents and young adults with cancer.

The definition of adolescents and young adults (AYAs) in oncology varies with upper limits up to age 39. Younger AYAs, ages 12-24 years, are often cared for within pediatrics. In caring for AYAs with cancer, there are unique considerations that become even more important to recognize, acknowledge, and address in AYAs with life-threatening cancer receiving palliative care. This review highlights important factors such as psychosocial development, cultural considerations, and support structure, which should be considered when providing palliative care to AYAs with cancer during the various stages of care: introduction of palliative care; symptom management; advanced care planning (ACP); end-of-life (EOL) care; and bereavement.

Intrapericardial NUT Midline Carcinoma: Unusual Presentation of a Rare Tumor and Literature Review with Management Considerations.

Rearrangements in the nuclear protein in testis (NUT) gene cause carcinomas that represent a rare but aggressive tumor type that often present at advanced stages in midline structures. Survival rarely exceeds 12 months from the time of diagnosis. There have been no reports of a primary cardiac presentation, and few studies have reported on the numerous treatment strategies. Given their aggressive and invasive nature, NUT midline carcinomas present a therapeutic dilemma. Treatment may include surgical resection, chemotherapy, or radiotherapy, but no consistently successful treatment has been established. Surgical resection is indicated to reduce symptomatic mass effect whenever present. Novel therapies with bromodomain extra-terminal inhibitors may be associated with potential survival benefit. Here, we describe an unusual presentation of this tumor. Literature review with management considerations is underlying.

Intratumoral Translocation Positive Heterogeneity in Pediatric Alveolar Rhabdomyosarcoma Tumors Correlates to Patient Survival Prognosis.

Alveolar rhabdomyosarcoma (ARMS) is characterized by one of three translocation states: t(2;13) (q35;q14) producing PAX3-FOXO1, t(1;13) (p36;q14) producing PAX7-FOXO1, or translocation-negative. Tumors with t(2;13) are associated with greater disease severity and mortality than t(1;13) positive or translocation negative patients. Consistent with this fact, previous work concluded that a molecular analysis of RMS translocation status is essential for the accurate determination of prognosis and diagnosis. However, despite this knowledge, most diagnoses rely on histology and in some cases utilize fluorescence in situ hybridization (FISH) probes unable to differentiate between translocation products. Along these same lines, diagnostic RT-PCR analysis, which can differentiate translocation status, is unable to determine intratumoral translocation heterogeneity, making it difficult to determine if heterogeneity exists and whether correlations exist between this heterogeneity and patient outcomes. Using newly developed FISH probes, we demonstrate that intratumoral heterogeneity exists in ARMS tumors with respect to the presence or absence of the translocation product. We found between 3 and 98% of cells within individual tumor samples contained a translocation event with a significant inverse correlation (R 2 = 0.66, p = 0.001) between the extent of intratumoral translocation heterogeneity and failure-free survival of patients. Taken together, these results provide additional support for the inclusion of the molecular analysis of these tumors and expand on this idea to support determining the extent of intratumoral translocation heterogeneity in the diagnosis of ARMS to improve diagnostic and prognostic indicators for patients with these tumors.

A high predisposition to depression and anxiety in mothers and other matrilineal relatives of children with presumed maternally inherited mitochondrial disorders.

Although mothers of chronically ill children are generally prone to depression and anxiety, clinical observation suggests that these symptoms are relatively increased in mothers of children with maternally inherited mitochondrial disorders (MIMD). In this study, the Beck Depression Inventory II (BDI), the Beck Anxiety Inventory (BAI), and a non-standardized mental health questionnaire were administered to 15 mothers of children with MIMD and 17 mothers of children with autosomal recessive metabolic disorders (ARMD) followed in one clinic. One half of the children in both groups suffer from mental retardation and/or > or = 2 hospitalizations/year related to their genetic disorder, and were labeled as severely affected. BDI and BAI scores were similar between mothers of severely affected MIMD and ARMD children, but BDI and BAI scores were threefold higher in mothers of mildly affected MIMD versus ARMD children (P = 0.001 and P = 0.003, respectively). Any mental health condition was self-reported in 10/15 MIMD and 2/17 ARMD mothers (P = 0.002), while at least one mental health condition per family was reported to be present in a matrilineal first-degree relative of the mother in 8/15 MIMD versus 1/17 ARMD families (P = 0.004). Our data confirm that mental health conditions, particularly depression, are diagnosed at an increased frequency among matrilineal relatives likely sharing the same mitochondrial DNA (mtDNA) as the affected proband. While previous studies have demonstrated that mtDNA sequences can affect brain function, our data suggests that in addition mtDNA sequences can predispose individuals towards the development of some "mental health" disorders. Thus, "genome-wide" studies to screen for genes associated with depression and anxiety should not neglect the small, yet important, mitochondrial genome.