"I couldn't connect the wires in my brain." Young adult cancer survivors' experience with cognitive functioning.

OBJECTIVE: There is a dearth of literature describing young adult (YA) cancer survivors' experiences with cancer-related cognitive impairment (CRCI). We aimed to elucidate CRCI among YA cancer survivors and identify potentially modifiable risk factors. METHODS: We conducted individual qualitative interviews with YA cancer survivors aged 18-30 years at study enrollment and used applied thematic analysis to identify themes across three topics (i.e., affected cognitive abilities, risk and protective factors influencing the impact of CRCI, and strategies for coping with CRCI). RESULTS: YA cancer survivors (N = 20) were, on average, 23 years old at diagnosis and 26 years old when interviewed. Diverse cancer types and treatments were represented; most participants (85%) had completed cancer treatment. Participants described experiences across three qualitative topics: (1) affected cognitive abilities (i.e., concentration and attention, prospective memory, and long-term memory), (2) Risk factors (i.e., fatigue, sleep problems, mood, stress/distractions, and social isolation) and protective factors (i.e., social support), and (3) coping strategies, including practical strategies that helped build self-efficacy (e.g., writing things down, reducing distractions), beneficial emotion-focused coping strategies (e.g., focus on health, faith/religion), strategies with mixed effects (i.e., apps/games, medications/supplements, and yoga), and "powering through" strategies that exacerbated stress. CONCLUSIONS: YA cancer survivors experience enduring cognitive difficulties after treatment. Specific concerns highlight the importance of attention and executive functioning impairments, long-term memory recall, and sensitivity to distractions. Future work is needed to improve assessment and treatment of CRCI among YA cancer survivors.

Literature Review and a Relevant Case of Pediatric Collagenous Gastritis: A Rare but Important Etiology of Iron-Deficiency Anemia.

An adolescent male with fatigue, weight loss, and iron-deficiency anemia failed to improve with iron supplementation and a gluten-free diet. Endoscopy revealed collagenous gastritis. Pediatric patients with refractory iron deficiency and family history of autoimmune disorders should be referred to pediatric gastroenterology for evaluation of collagenous gastritis and celiac disease.

A Case Report on Pearson Syndrome With Emphasis on Genetic Screening in Patients Presenting With Sideroblastic Anemia and Lactic Acidosis.

Pearson marrow-pancreas syndrome is a rare multisystem mitochondrial disease that is a result of defective oxidative phosphorylation caused by mitochondrial DNA mutations. The average prognosis of infants diagnosed with this disease is death within four years of age. The disease often carries an atypical presentation during the neonatal period causing this rare syndrome to be frequently misdiagnosed. The current report details the diagnosis of Pearson syndrome in a three-month-old male with a history of pancytopenia.

The PhenX Toolkit: standard measurement resources for cancer outcomes and survivorship research.

This brief report introduces the Cancer Outcomes and Survivorship domain in the PhenX Toolkit (consensus measures for Phenotypes and eXposures), which includes 15 validated measurement protocols for cancer survivorship research that were recommended for inclusion in this publicly available resource. Developed with input from the scientific community, the domain provides researchers with well-established measurement protocols for evaluating physical and psychological effects, financial toxicity, and patient experiences with cancer care. The PhenX Toolkit, funded by the National Human Genome Research Institute since 2007, is an online resource that provides high-quality standard measurement protocols for a wide range of research areas (eg, smoking cessation, harm reduction and biomarkers, and social determinants of health). Use of the PhenX Cancer Survivorship Outcomes and Survivorship domain can simplify the selection of measurement protocols, data sharing, and comparisons across studies investigating the cancer survivorship experience.

12-Year-Old Girl Diagnosed With Li-Fraumeni Syndrome and Concomitant Adrenocortical Carcinoma (ACC).

Adrenocortical carcinomas (ACC) are classical presentations of germline cancer predisposition syndromes such as the Li-Fraumeni syndrome (LFS). Li-Fraumeni syndrome is a multiple cancer syndrome caused by germline alterations of the tumor protein 53 (TP53) tumor suppressor gene and is often associated with ACC. If minor adrenocortical tumors (ACTs) are detected early, resection has proven to provide patients with better outcomes. However, non-functioning ACCs are particularly insidious since these patients present late and with distant metastases. We present the case of a 12-year-old female with a history of Li-Fraumeni syndrome (LFS) and a non-hormone-secreting ACC in the context of an exceedingly rare c.743G>A (p.Arg248Gln) p53 mutation.

A Four-Year-Old Female With a Rare P53 Gene Mutation Diagnosed With Li-Fraumeni Syndrome and Concomitant Metastatic Rhabdomyosarcoma: A Case Report.

Li-Fraumeni syndrome (LFS) is an autosomal dominant disorder that often results from mutations that impair the functions of the tumor suppressor gene p53. LFS is categorized as a hereditary cancer predisposition syndrome in which patients frequently suffer from an elevated degree of onset and incidence of neoplastic malignancies. Among the different pathogenic variants of LFS, TP53 is one of the most frequently encountered ones. A four-year-old female is reported in this vignette, with a rare c.375+1G>T pathogenic variant in the TP53 gene consistent with an LFS diagnosis. To our knowledge, this is the first reported "germline" example of this variant in the literature. Initially, the patient presented to the emergency department due to concerns of progressive swelling and firmness of a mass in the patient's right abdomen. Further imaging and analysis revealed a rhabdomyosarcoma of the pelvis secondary to LFS. In addition to this, the patient's brother and mother both were positive for the same LFS mutation allowing us to make a definitive LFS diagnosis. Our patient then underwent neoadjuvant chemotherapy, radiotherapy, and eventually a resection of the main neoplastic lesion. Among pediatric LFS patients, the risk of suffering secondary and/or multiple cancers is pathologically elevated. That said, it is crucial to perform genetic analysis tests for pediatric oncology patients, especially those patients with hereditary predisposition to cancers. Considering the poor prognosis of most TP53 mutations, it is of utmost importance to implement prompt and systematic care for patients diagnosed with LFS.

Case Report of a 13-Year-Old Female With Trauma Secondary to a Fall From a Golf Cart, Found to Have Intraparenchymal & Subarachnoid Hemorrhages With Transverse Sinus Thrombosis.

Cerebral venous sinus thrombosis (CVST) is the occlusion of cerebral veins of the brain secondary to blood clot formation. These can result in increased intracranial pressure, cerebral edema, and may even have fatal consequences such as a stroke. Despite CVSTs being considered a rare pathology, these are said to have an increased incidence in the pediatric population. These individuals with CVST are often asymptomatic causing physicians to often overlook and delay possibly life-saving interventions. The current literature is lacking on CVST examples in the "older" range of the pediatric population, specifically teenagers. Here we present the case of a 13-year-old female with trauma secondary to a fall from a golf cart, who was found to have intraparenchymal and subarachnoid hemorrhages with transverse sinus thrombosis.

A Case Report on Transient Erythroblastopenia of Childhood in a Female Pediatric Patient.

Transient erythroblastopenia of childhood (TEC) is an uncommon, benign normocytic anemia of unknown etiology. It is characterized by absent or reduced erythroid precursors in otherwise normocellular bone marrow, with patients undergoing a complete spontaneous recovery. We present the case of a 12-month-old female suspected of TEC.

A Case Report on Aggressive Natural Killer Cell Leukemia in a Pediatric Patient.

Aggressive natural killer cell leukemia (ANKL) is a rare neoplastic malignancy, especially in pediatric populations with very few cases reported in the literature. It commonly presents with a rapidly declining clinical course and has a median survival of two months. We report the case of a 15-year-old female who presented with fever, hepatosplenomegaly, hemophagocytosis, and disseminated intravascular coagulation (DIC). The patient was ultimately diagnosed with ANKL but died after developing multiorgan failure and DIC prior to the initiation of any treatment. In this case report, we review and discuss the literature concerning the diagnosis and treatment of ANKL in pediatric patients.

Arterial Thrombosis of Unknown Etiology in a 10-Year-Old Male.

Arterial thrombotic events are exceedingly rare occurrences in pediatric populations. The incidence of childhood thrombosis is extremely low and the majority of cases are venous in origin. There are several well-known etiologies and genetic risk factors with an underlying predisposition to venous thrombosis, however, there have been few identified etiologies of arterial thrombotic events in pediatric patients. The most common include factor V Leiden mutation, trauma, neoplasm, and inherited metabolic disorders. This case report involves a 10-year-old male with no predisposing factors or significant medical or surgical history, who presents with a cerebral vascular accident secondary to a peripheral arterial clot of the basilar artery. The patient's only identifiable risk factor was an elevated factor VIII level. Elevated factor VIII levels are a risk factor for thrombotic events, with a greater impact on venous than on arterial thrombosis. However, due to a lack of international consensus on methods for the laboratory testing of factor VIII levels in plasma, it is not currently recommended that the measurement of factor VIII levels be part of routine thrombophilia screening in pediatric populations.

Family dynamics in young adult cancer caregiving: "It should be teamwork".

PURPOSE/OBJECTIVES: Young adult cancer patients undergo stress at a time when their primary source of psychosocial support may be changing. Our goal was to provide insight into the expectations young adult patients and their family caregivers for types of psychosocial support. RESEARCH APPROACH: Semi-structured interviews. PARTICIPANTS: Fifteen patients, 9 caregivers recruited from an AYA clinic. Methodological Approach: Thematic content analysis using the constant comparison method. FINDINGS: Two themes were identified. First, families described coordinating support around strengths to determine who would take on caregiving roles/tasks. Second, families described the importance of patient-caregiver relationship status/history in determining trust and expectations. INTERPRETATION: Family strengths and existing relationships can impact caregiving roles and expectations for families of young adult cancer patients. Implications for Psychosocial Providers: Cancer clinics may need to involve members of the psychosocial provider team to better understand the family dynamics of their patients and how these relate to support.

Support for Young Adult Cancer Patients: Perspectives of Patients and their Mothers.

The shift from adolescence to adulthood is marked by increased independence from parents. The purpose of this research is to describe types of beneficial support and concordance between young adult cancer patients/survivors and their parents. One-on-one phone interviews were conducted. Data were analyzed with constant comparison and linguistic methods. Fifteen patients and eight mothers participated. Support types most cited included informational, tangible, and emotional. The greatest difference between patients and mothers was in mention of emotional or tangible support. Continued attention to the role of parental support for young adult cancer patients is important for care.