Case presentation: We report a 10-year-old Dusun girl presenting with left hypochondrial pain and noted a left hypochondrial mass on examination. This report highlights the role of clinical imaging during the pre-operative and post-operative phases.
Clinical discussion: Ultrasound and CT imaging was useful in determining that the tumor originated from the tail of the pancreas. The presence of a definite capsule with internal solid-cystic components helped narrowed the differential diagnosis to solid pseudopapillary neoplasm (SPN) of the pancreas. MR liver was useful to rule out liver metastasis in this child.
Intervention and outcome: The patient was scheduled for laparotomy and tumour excision at a regional paediatric centre. Successful excision of the tumor en-mass was performed and the child's subsequent recovery was uneventful.
Conclusion: Clinical imaging plays a critical role in the diagnosis and management of paediatric solid organ tumours. Other than renal origin, suspicion of pancreatic tail origin should be considered by clinicians when encountering a ballotable left abdominal mass.
MATERIALS AND METHODS: A prospective and observational study was conducted on consecutive infants with NC referred to the University of Malaya Medical Centre, Malaysia, between November 1996 and May 2004.
RESULTS: The 3 most common causes of cholestasis among the 146 infants with NC studied were idiopathic neonatal hepatitis (n = 63, 43%), BA (n = 35, 24%) and congenital cytomegalovirus hepatitis (n = 13, 9%). Common clinical features at presentation were jaundice (100%), hepatomegaly (95%), splenomegaly (52%) and pale stools (47%). Three clinical features noted to be sensitive for BA were the presence of acholic or variably acholic stools on admission, a liver which was firm/hard in consistency and a palpable liver of ≥4 cm (sensitivity of 77%, 80% and 94%, respectively), but the corresponding specificity was poor (51%, 65% and 39%, respectively). The stools of 2 children with BA were pigmented initially but became acholic subsequently.
CONCLUSIONS: We did not find any single clinical feature with sufficient sensitivity and specificity to differentiate BA from other causes of NC. Repeated inspection of stools colour is necessary as occasionally, patients with BA may have initial pigmented stools. Biochemical assessment and imaging studies are important in the assessment of any infant with NC.
PATIENTS AND METHODS: The institutional review board approved this prospective study. The brain MRI protocol, including sagittal T1-weighted, axial T2-weighted, coronal fluid-attenuated inversion recovery, and axial T1-weighted with contrast enhancement (T1WCE) sequences, was assessed in 26 patients divided into two groups: Medulloblastoma (n=22) and ependymoma (n=4). The quantified region of interest (ROI) values of tumors and their ratios to parenchyma were compared between the two groups. Multivariate logistic regression analysis was utilized to find significant factors influencing the differential diagnosis between the two groups. A generalized estimating equation (GEE) was used to create the predictive model for the discrimination of medulloblastoma from ependymoma.
RESULTS: Multivariate logistic regression analysis showed that the T2- and T1WCE-ROI values of tumors and the ratios of T1WCE-ROI values to parenchyma were the most significant factors influencing the diagnosis between these two groups. GEE produced the model: y=exn/(1+exn) with predictor xn=-8.773+0.012x1 - 0.032x2 - 13.228x3, where x1 was the T2-weighted signal intensity (SI) of tumor, x2 the T1WCE SI of tumor, and x3 the T1WCE SI ratio of tumor to parenchyma. The sensitivity, specificity, and area under the curve of the GEE model were 77.3%, 100%, and 92%, respectively.
CONCLUSION: The GEE predictive model can discriminate between medulloblastoma and ependymoma clinically. Further research should be performed to validate these findings.
METHODOLOGY: A total of 59 benign and malignant spindle cell tumours (18 MPNST and 41 of its histologic mimickers which included 10 schwannoma, 13 neurofibroma, 4 synovial sarcoma, 3 fibrosarcoma, 2 gastrointestinal stromal tumour (GIST), 4 leiomyosarcoma, 1 spindle cell liposarcoma, 1 solitary fibrous tumour, 2 low grade fibromyxoid sarcoma and 1 unclassified spindle cell sarcoma), diagnosed from January 1998 to April 2018 in Hospital Universiti Sains Malaysia (HUSM) were tested for H3K27me3 by IHC. The MPNST histological grade was assessed based on the French Fe'de' ration Nationale des Centres de LutteContre le Cancer (FNCLCC) for 3 tiers system (low grade, intermediate grade and high grade). The clinicopathological data were retrieved from the patients' record.
RESULTS: A total of 61.1% (11/18 MPNST) showed loss of H3K27me3 expression which is statistically significant as compared to its histologic mimics (p<0.001). Similar findings (p=0.026) were also observed in high grade MPNST (81.8%), intermediate grade MPNST (100%) and 0% in low grade MPNST.
CONCLUSION: H3K27me3, combined with other panel of markers, is useful in MPNST diagnosis to differentiate it from the histological mimickers.