Outcomes of Referrals in Pediatric Patients With Peripheral Lymphadenopathy.

Lymphadenopathy is a common reason for referral to a subspecialist, which may result in significant anxiety for parents. Understanding which patients require a subspecialty referral for lymphadenopathy is key to streamlining health care utilization for this common clinical entity. This is an IRB-approved retrospective study examining pediatric patients consecutively referred to pediatric hematology oncology, otolaryngology, or surgery for lymphadenopathy from 2012 to 2021 at a free-standing tertiary-care children's hospital. Logistic regression was fitted to examine the association between the maximum size of the lymph nodes (LN) and a diagnosis of malignancy. The odds ratio, area under the receiver operator curve, sensitivity, and specificity were estimated. We found a significant association between LN size and cancer diagnosis. For every centimeter increase in the maximal dimension of LN, there was an estimated 2.3 times increase in the odds of malignancy (OR=2.3, 95% CI: 1.65-3.11; P<0.0001). The estimated area under the curve (0.84, 95% CI: 0.78-0.90) indicated that LN size correlated well with cancer diagnosis. A LN cut-off size of 2 cm resulted in an estimated sensitivity of 1.0 (95% CI: 0.87-1.00) and specificity of 0.54 (95% CI: 0.46-0.61). Maximum LN size may be a predictor of malignancy among pediatric patients with lymphadenopathy.

The New Oncologic Diagnosis Discussion: Perspectives of Pediatric Oncologists.

PURPOSE: We aimed to understand how new diagnosis discussions are conducted in pediatric oncology, and the training provided for their conduct. METHODS: This mixed-methods study used a sequential exploratory design. Qualitative interviews (n = 20) were conducted with pediatric oncologists (n = 15) and fellows (n = 5) at a single institution, focusing on the process used to convey the diagnosis and treatment plan to the family. Accreditation Council for Graduate Medical Education-accredited pediatric oncology fellowship program directors (n = 38) and fellows (n = 70) were subsequently surveyed to confirm qualitative results and elucidate the training that fellows receive in conducting new diagnosis discussions. RESULTS: Our findings suggest that new diagnosis discussions in pediatric oncology are typically conducted in three stages: (1) concern for cancer; (2) confirmation of diagnosis; and (3) treatment plan/consent, and are fundamentally similar across settings; however, pediatric oncologists skillfully tailor their approach on the basis of clinical circumstances and parental needs. Decisions regarding inclusion of the child are primarily determined by parental preference, whereas inclusion of health care team members is driven by physician role (ie, trainee v program director) and health care organization-related factors. Physician preparation for discussions involves logistical, intellectual, and emotional components. Disclosure of prognosis is nuanced. There is variability across pediatric oncology fellowship programs in the provision of training for these discussions. CONCLUSION: We identified common practices of pediatric oncologists as they prepare for and lead new diagnosis discussions in pediatric oncology. We found variability in the training that pediatric oncology fellows receive regarding how to conduct these discussions, highlighting a need for standardized training curricula.

B-cell acute lymphoblastic leukemia in patients with germline RUNX1 mutations.

Germline RUNX1 mutations underlie a syndrome, RUNX1-familial platelet disorder (RUNX1-FPD), characterized by bleeding symptoms that result from quantitative and/or qualitative defect in platelets and a significantly increased risk for developing hematologic malignancies. Myeloid neoplasms are the most commonly diagnosed hematologic malignancies, followed by lymphoid malignancies of T-cell origin. Here, we describe the first 2 cases of B-cell acute lymphoblastic leukemia (B-ALL) in patients with confirmed germline RUNX1 mutations. While 1 of the patients had a known diagnosis of RUNX1-FPD with a RUNX1 p.P240Hfs mutation, the other was the index patient of a kindred with a novel RUNX1 variant, RUNX1 c.587C>T (p.T196I), noted on a targeted genetic testing of the B-ALL diagnostic sample. We discuss the clinical course, treatment approaches, and the outcome for the 2 patients. Additionally, we describe transient resolution of the mild thrombocytopenia and bleeding symptoms during therapy, as well as the finding of clonal hematopoiesis with a TET2 mutant clone in 1 of the patients. It is critical to consider testing for germline RUNX1 mutations in patients presenting with B-ALL who have a personal or family history of thrombocytopenia, bleeding symptoms, or RUNX1 variants identified on genetic testing at diagnosis.