Search

Objective: The American College of Radiology Thyroid Imaging Reporting and Data System (TI‐RADS) is a widely used method for the management of adult thyroid nodules. However, its use in paediatric patients is controversial because adult fine needle aspiration biopsy (FNAB) recommendations may lead to delayed diagnoses of cancer in children. The objectives of this study were to evaluate the performance of TI‐RADS in paediatric thyroid nodules and to tailor FNAB recommendations for children. Methods: Consecutive surgically resected paediatric thyroid nodules from two tertiary care centres between 2003 and 2021 were reviewed. Ultrasounds were blindly scored by radiologists according to TI‐RADS. Management recommendations based on TI‐RADS were evaluated. Various modelling methodologies were used to determine the optimal cutoff for FNAB in children. Results: Of the 96 patients, 79 (82%) were female and the median age at surgery was 16.1 years. Fifty (52%) nodules were malignant on surgical pathology. The area under the receiver operating characteristic curve of TI‐RADS for predicting malignancy was 0.78. Adult TI‐RADS recommendations would have resulted in 4% of cancerous nodules being lost to follow‐up. Modifications to TI‐RADS (FNAB of all TR3 nodules ≥1.5 cm, FNAB of TR4 and TR5 nodules ≥0.5 cm, surveillance of nodules ≥1 cm, consider surgery for nodules >4 cm) reduced this missed malignancy rate to 0%. Conclusions: TI‐RADS can risk‐stratify paediatric thyroid nodules. However, the system requires modifications to reduce the missed malignancy rate in paediatric thyroid nodules. Our data suggest that lower size thresholds for FNAB are warranted in children. [ABSTRACT FROM AUTHOR]

Background:DICER1 tumor predisposition syndrome is characterized by an increased risk for development of pleuropulmonary blastoma, pituitary blastoma, multinodular thyroid goiter, thyroid carcinoma, sex cord stromal tumor, cystic nephroma, embryonal rhabdomyosarcoma, and tumors of the CNS, amongst others. Of this list, only pituitary blastoma is recognized as pathognomonic for the syndrome. Case report: We describe a 15-year-old female with bilateral, asynchronous Sertoli-Leydig cell tumors (SLCT). Both tumors harbored an identical germline frameshift mutation as well as unique somatic DICER1 hot-spot point mutations. Discussion: A review of bilateral SLCTs demonstrates that all patients with available DICER1 mutation status carried a germline DICER1 mutation (100%, 9 of 9). In cases with known somatic DICER1 status on bilateral tumors, all harbored distinct somatic mutations (100%, 5 of 5). Our findings support the notion that bilateral ovarian SLCTs are indeed separate events and do not represent recurrent or metastatic disease. [ABSTRACT FROM AUTHOR]

Bile staining in the hepatobiliary tree is a well-known phenomenon, but bilirubin can also be deposited in and stain the umbilical cord, amniotic fluid, placental disk and placental membranes. We present a placenta with grossly greenish discoloration of the placental disk and microscopic villous bilirubin deposition due to maternal hyperbilirubinemia. Conclusion: Maternal hyperbilirubinemia causes massive bilirubin deposition in villous synctiotrophoblasts and Hofbauer cells leading to grossly green discoloration of the placental disk. [ABSTRACT FROM AUTHOR]

Objectives: Mucinous adenocarcinoma arising in unresected congenital pulmonary airway malformation (CPAM) is rare. Underlying driver mutations in addition to KRAS gain-of-function mutations in this setting and the long-term outcomes of these patients are unknown.Methods: We report a case of metastatic mucinous adenocarcinoma harboring both KRAS and GNAS mutations arising in a type 1 CPAM of a 14-year-old male. A literature review was performed.Results: Next-generation sequencing revealed identical KRAS (G12V) mutations in both the CPAM and metastatic adenocarcinoma and a missense mutation in the GNAS (R201C) gene in the metastatic adenocarcinoma only. Median survival was 23 and 4 years for patients with localized (no or limited spread within the same lobe of CPAM) and distant involvement (spread to any different lobe of CPAM) of mucinous cells, respectively (95% confidence interval, 23-23 and 1.5-22 years, respectively; P = .017).Conclusions: Mucinous cell proliferation associated with type 1 CPAM has exceptionally good long-term outcomes if confined within the same lobe of CPAM. A second oncogenic mutation in the GNAS gene may be necessary for progression to malignancy and distant spread. [ABSTRACT FROM AUTHOR]

Objectives: We aimed to identify potential laboratory causes of suboptimal liver biopsy quality and sought to implement corresponding measures to improve biopsy adequacy.Methods: We prospectively measured the number and size of tissue fragments and the amount of portal tracts in 200 consecutive pediatric medical liver biopsies before and after quality improvement processes were initiated.Results: We identified laboratory-related tissue fragmentation as a significant cause of low biopsy adequacy. The principal approaches to reduce fragmentation included establishment of multistep monitoring of tissue integrity, adjustment of specimen-processing conditions, and laboratory staff education and awareness. These adjustments collectively led to lower overall tissue fragmentation (decreasing from 59% to 24%, P < .01) and higher biopsy adequacy rates (increasing from 32% to 56%, P < .01). The number of evaluable portal tracts increased from 4.4 to 5.7 portal tracts per centimeter of core biopsy tissue (P < .01).Conclusions: We demonstrated a sustainable improvement in the overall quality of pediatric needle core liver biopsies by reducing tissue fragmentation. Effective laboratory adjustments included monitoring of tissue integrity, modifications of processing conditions, and laboratory staff education. [ABSTRACT FROM AUTHOR]

Background: Papillary thyroid carcinoma (PTC) in children has a distinctive set of clinicopathologic features and molecular signature compared to their adult counterparts. The recent recommendation to reclassify encapsulated follicular variant of papillary thyroid carcinoma (EFVPTC) without invasion as noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP) is based on evidence derived almost exclusively from studies in adults. Clinicopathologic studies restricted to pediatric NIFTP are limited. Methods: We retrospectively analyzed all pediatric PTC and NIFTP diagnosed and treated in our institution from 1999 to 2016 (n = 31). Results: Using recently published consensus diagnostic criteria, we identified 3 NIFTP and 2 infiltrative follicular variants of papillary thyroid carcinoma (FVPTC) among 31 cases. Two of the NIFTP cases were initially diagnosed as EFVPTC. All 3 patients with NIFTP had unifocal tumors of lower American Joint Committee on Cancer (AJCC) classification (T2 or lower) and were free of lymph node or distant metastasis. Total (n = 1) or completion (n = 2) thyroidectomy was performed in all cases, and only 1 NIFTP patient received subsequent radioablative therapy. No residual or recurrent disease has been observed during follow-up (15–138 months) in patients with NIFTP. Conclusions: Our experience with NIFTP in children is similar to outcomes reported in adult studies, suggesting that pediatric NIFTP behave indolently as evidenced by the absence of local recurrence in our cohort. [ABSTRACT FROM AUTHOR]