With the increasing use of magnetic resonance imaging (MRI) in the evaluation of children with endocrine disorders, pituitary stalk thickening (PST) poses a clinical conundrum due to the potential ...for underlying neoplasms and challenges in obtaining a tissue biopsy. The existing literature suggests Langerhans cell histiocytosis (LCH) to be the commonest (16%) oncologic cause for PST, followed by germ cell tumors (GCTs, 13%) (CCLG 2021). As the cancer epidemiology varies according to ethnicity, we present herein the incidence and predictors for oncologic etiologies in Hong Kong Chinese children with PST.
Based on a territory-wide electronic database, we reviewed patients aged < 19 years who presented to three referral centers with endocrinopathies between 2010 and 2022. Records for patients who underwent at least one MRI brain/pituitary were examined (
= 1670): those with PST (stalk thickness ≥ 3 mm) were included, while patients with pre-existing cancer, other CNS and extra-CNS disease foci that were diagnostic of the underlying condition were excluded.
Twenty-eight patients (M:F = 10:18) were identified. The median age at diagnosis of PST was 10.9 years (range: 3.8-16.5), with central diabetes insipidus (CDI) and growth hormone deficiency (GHD) being the most frequent presenting endocrine disorders. At a median follow-up of 4.8 years, oncologic diagnoses were made in 14 patients (50%), including 13 GCTs (46%; germinoma = 11, non-germinoma = 2) and one LCH (4%). Among patients with GCTs, 10 were diagnosed based on histology, two by abnormal tumor markers and one by a combination of histology and tumor markers. Three patients with germinoma were initially misdiagnosed as hypophysitis/LCH. The cumulative incidence of oncologic diagnoses was significantly higher in boys and patients with PST at presentation ≥6.5 mm, CDI or ≥2 pituitary hormone deficiencies at presentation and evolving hypopituitarism (all
< 0.05 by log-rank).
A higher rate of GCTs was observed in Chinese children with endocrinopathy and isolated PST. The predictors identified in this study may guide healthcare providers in Asia in clinical decision making. Serial measurement of tumor markers is essential in management.
UCBT recipients with TM are at high risk of EF related to low number of stem cells and prior alloimmunization after multiple blood transfusions. Here, we evaluated the safety and efficacy of ...double‐unit UCBT using TT‐containing conditioning regimens in TM. Retrospective analysis of children who underwent double‐unit UCBT for TM in the Prince of Wales Hospital between August 2007 and January 2017, and outcome of double‐unit UCBT for TM was compared with outcome of HLA‐matched sibling BMT. Ten patients, median age 4.2 years, received double‐unit UCBT. All patients except one engrafted at a median of 19 days. None of the patients with successful engraftment had grade III or IV aGVHD. Among nine patients with successful engraftment, six of nine patients evaluable after day 100 developed cGVHD. All patients with cGVHD were well controlled after treatment with steroids and/or supportive care and maintained good quality of life. In comparison with patients receiving BMT, those given UCBT had slower platelet recovery, and more cGVHD. With a median follow‐up of 272 months after BMT and 84 months after UCBT, the 8‐year OS after BMT and UCBT was 92% and 90% (P = .84), whereas 8‐year DFS after BMT and UCBT was 87% and 80% (P = .54). UCB could be an acceptable source of stem cells for transplantation of TM patients when HLA‐matched family bone marrow donors are NA.
There is no established effective treatment for patients with t(1;22)(p13;q13) acute megakaryoblastic leukemia (AMKL) and hepatic fibrosis.
Here we report the outcomes of 2 t(1;22)(p13;q13) AMKL ...patients with hepatic fibrosis. One patient died from liver failure despite the control of leukemia. The other patient was successfully treated with reduced-intensity chemotherapy and antifibrosis therapy with tretinoin and α-tocopheryl acetate, the hepatic fibrosis resolved and leukemia was in remission for 3 years.
Reduced-intensity chemotherapy plus antifibrosis therapy with tretinoin and α-tocopheryl acetate could be a treatment option for these patients with t(1;22)(p13;q13) AMKL and hepatic fibrosis.
Inter-individual variance in 6-mercaptopurine (6-MP) dose intensity is common in patients with acute lymphoblastic leukemia (ALL). We aimed to evaluate the association of common variants of ABCC4, ...ITPA, NUDT15, and TPMT with 6-MP dose intensity and toxicity in pediatric ALL patients. In this cohort, 13.8% of patients were intolerant to 6-MP with actual dosage less than 50% of scheduled dose. Twenty percent of patients were found to be heterozygous or homozygous mutated with NUDT15. NUDT15 c.415C > T and the genotype-predicted NUDT15 activity were significantly associated with 6-MP intolerance. TPMT*3C variants were not common in this cohort (2.8%). NUDT15 polymorphisms and genotype predicted NUDT15 activity were significantly associated with 6-MP dose intensity and leukopenia episodes. Combination of ABCC4 and ITPA variants (ABCC4 c.912G > T and ITPA c.94C > A) also showed significant positive association with 6-MP intolerance in Chinese children with ALL. Further study on pharmacogenetic screening for ALL patients to avoid 6-MP induced toxicity is recommended.
Supplemental data for this article is available online at https://doi.org/10.1080/08880018.2021.1973628
Introduction: Compared with young children who have acute lymphoblastic leukaemia (ALL), adolescents with ALL have unfavourable disease profiles and worse survival. However, limited data are ...available regarding the characteristics and outcomes of adolescents with ALL who underwent treatment in clinical trials. The aim of this study was to investigate the causes of treatment failure in adolescents with ALL. Methods: We retrospectively analysed the outcomes of 711 children with ALL, aged 1-18 years, who were enrolled in five clinical trials of paediatric ALL treatment between 1993 and 2015. Results: Among the 711 children with ALL, 530 were young children (1-9 years at diagnosis) and 181 were adolescents (including 136 younger adolescents 10-14 years and 45 older adolescents 15-18 years). Compared with young children who had ALL, adolescents with ALL were less likely to have favourable genetic features and more likely to demonstrate poor early response to treatment. The 10-year overall survival and event-fr
Importance
131I‐metaiodobenzylguanidine (131I‐mIBG) has a significant targeted antitumor effect for neuroblastoma. However, currently there is a paucity of data for the use of 131I‐mIBG as a ...“front‐line” therapeutic agent in those patients with newly diagnosed high‐risk neuroblastoma as part of the conditioning regimen for myeloablative chemotherapy (MAC).
Objective
To evaluate the feasibility of upfront consolidation treatment with 131I‐mIBG plus MAC and hematopoietic stem cell transplantation (HSCT) in high‐risk neuroblastoma patients.
Methods
A retrospective, single‐center study was conducted from 2003–2019 on newly diagnosed high‐risk neuroblastoma patients without progressive disease (PD) after the completion of induction therapy. They received 131I‐mIBG infusion and MAC followed by HSCT.
Results
A total of 24 high‐risk neuroblastoma patients were enrolled with a median age of 3.0 years at diagnosis. After receiving this sequential consolidation treatment, 3 of 13 patients who were in partial response (PR) before 131I‐mIBG treatment achieved either complete response (CR) (n = 1) or very good partial response (VGPR) (n = 2) after HSCT. With a median follow‐up duration of 13.0 months after 131I‐mIBG therapy, the 5‐year event‐free survival and overall survival rates estimated were 29% and 38% for the entire cohort, and 53% and 67% for the patients who were in CR/VGPR at the time of 131I‐mIBG treatment.
Interpretation
Upfront consolidation treatment with 131I‐mIBG plus MAC and HSCT is feasible and tolerable in high‐risk neuroblastoma patients, however the survival benefit of this 131I‐mIBG regimen is only observed in the patients who were in CR/VGPR at the time of 131I‐mIBG treatment.
Upfront consolidation treatment with 131I‐mIBG plus myeloablative chemotherapy (MAC) and hematopoietic stem cell transplantation (HSCT) is feasible in high‐risk neuroblastoma patients, and the better survival benefit of this 131I‐mIBG regimen is observed in the patients who were in complete response (CR)/very good partial response (VGPR) at the time of 131I‐mIBG treatment.
Abstract INTRODUCTION Magnetic resonance imaging (MRI) is the gold-standard for neuroimaging, yet details from anatomical scans might be inconclusive in certain scenarios. This study aimed to ...investigate the utility of amino-acid tracer positron emission tomography-magnetic resonance imaging (PET-MRI) based on a territory-wide Pediatric Neuro-Oncology cohort from Hong Kong. METHODS We reviewed the PET-MRI scans of pediatric patients with suspected/confirmed CNS neoplasms co-managed by Hong Kong Children’s Hospital and St. Teresa’s Hospital, Hong Kong from 5/2022-1/2024. Tracers used included C11-MET (n=10, before 5/2023) and F18-FET (n=15, in/after 5/2023). Lesion-to-normal SUVmax ratios (LNRmax) were measured with reference to adjacent or contralateral normal brain structures. RESULTS Twenty-five patients were included (M:F=13:12) with a median age of 10 years (range: 1-17). Anatomical sites of interest were the pituitary (n=13), basal ganglia (n=3), cerebellum (n=3), brainstem (n=2), frontal lobe (n=2), cerebellopontine angle (n=1), and spine (n=1). PET-MRI was performed as part of initial diagnostics in 21, to assess post-operative residual in 2, and for possible relapse in 2. Among those evaluated upfront (n=21), median SUVmax and LNRmax were 1.53 (range: 0.87-2.6) and 0.87 (range: 0.45-1.92) respectively in patients with presumed/confirmed low-grade glioneuronal (n=5) or non-oncologic lesions (n=8), versus 4.75 (range: 2.58-9.6) and 3.26 (range: 1.78-4.9) in patients with histologically/biochemically confirmed high-grade lesions (germinoma=6, high-grade glioma=2). Availability of functional PET imaging was deemed useful for scan interpretation in all 25 patients. Specifically, the use of PET-MRI facilitated decision for radiographic surveillance without biopsy/resection in 12 patients, refined tumor grading in 2 patients with discrepant clinical-histologic features, and allowed response-adapted therapy after serial scans in 5 patients. CONCLUSIONS Our study demonstrates the potential benefits of PET-MRI in the management of children with CNS pathologies. PET-MRI contributes to the diagnosis, monitoring, and treatment guidance of these patients, providing crucial information for clinical decision-making.
PDF
