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1.
Zhonghua Bing Li Xue Za Zhi ; 49(7): 675-680, 2020 Jul 08.
Article in Chinese | MEDLINE | ID: mdl-32610377

ABSTRACT

Objective: To investigate the clinical and pathological features of pediatric NTRK-rearranged tumors. Methods: Four NTRK-rearranged soft tissue tumors and one renal tumor at Shanghai Children's Medical Center, Shanghai Jiaotong University and Singapore KK Women's and Children's Hospital from January 2017 to September 2019 were identified. Pan-TRK immunohistochemistry, and the ALK and ETV6 gene break-apart fluorescence in situ hybridizations (FISH) were performed. NTRK gene rearrangement was detected using sequencing-based methods. Results: There were 3 males and 2 females in this study. The patients were between 3 months and 13 years of age. Histologically, the tumors were infiltrative spindle cell tumors with variable accompanying inflammatory cells. Immunohistochemistry showed positive reactivity for pan-TRK in all tumors, with nuclear staining for NTRK3 fusion, and cytoplasmic staining for NTRK1 fusion. The molecular testing revealed NTRK gene fusions (one each of TPM3-NTRK1, ETV6-NTRK3 and DCTN1-NTRK1, and two cases of LMNA-NTRK1). Two patients were receiving larotrectinib. The others were are well without disease, with follow-up durations of 9 to 29 months. Conclusions: NTRK-rearranged mesenchymal tumors from soft tissue sites and kidney are identified. A novel DCTN1-NTRK1 fusion is described. Pan-TRK immunohistochemistry is useful for diagnosis. NTRK-targeted therapy may be an option for unresectable, recurrent or metastatic cases.


Subject(s)
Neoplasms, Connective and Soft Tissue , Adolescent , Child , Child, Preschool , China , Dynactin Complex , Female , Gene Rearrangement , Humans , Immunohistochemistry , Infant , Male , Receptor, trkA
2.
Zhonghua Bing Li Xue Za Zhi ; 49(7): 693-698, 2020 Jul 08.
Article in Chinese | MEDLINE | ID: mdl-32610380

ABSTRACT

Objective: To study clinical pathological characteristics, immunohistochemical, molecular genetical changes and prognosis in pediatric eosinophilic solid and cystic renal cell carcinoma (ESC RCC) with TSC2 gene mutations. Methods: The tissue samples were collected from two pediatric ESC RCC patients between 2017 and 2018. The tissues were subjected to histological examination and immunohistochemistry using EnVision system. The TFE3, TFEB gene rearrangements were tested using FISH and molecular genetic study. The paraffin sections were used for DNA extraction, PCR amplification and NGS sequencing. Results: The two patients with ESC RCC were both male, aged at 9 years and 8 months, and 13 years, respectively. The tumors were from the right kidney, 5 cm and 7 cm in size, respectively, with solid and cystic changes in cross section, and grey-reddish or grey-whitish fish meat appearance. Microscopic observation revealed the tumors had fibrous capsules, which were infiltrated by the tumor cells. The tumor cells were diffusely distributed, round-shaped, or polygon-shaped, and had voluminous cytoplasm, eosinophilic cytoplasm, various sizes of vacuoles and clear cell-like appearance. There were papillary structures in some areas, with visible fiber septa. The nuclei were round and vesicular, with multi-nucleated cells and megakaryocytes. The mitoses were not seen. A few cystic structures were visible in different sizes, and capsule walls were covered with a single layer of spike-like tumor cells. Thick-walled blood vessels were seen in the stroma, with focal lymphocytic infiltration, eosinophilic necrosis, calcifications and cholesterol crystals. Immunohistochemistry of the tumor cells was positive for PAX8 (diffuse), CK20 (focal), CKpan (focal), CK10 (1 focal, 1 diffuse), INI1, vimentin, CD68, and Ki-67 (5%~10%); the tumor cells were negative for HMB45, S-100, Melan A, p53, desmin, TFE3, CK7, CK19, EMA, CD56, CgA, Syn, CD30, CD117, WT1 and SMA. Molecular genetic study showed that TFE3 and TFEB gene rearrangements were not detected by FISH. NGS sequencing showed TSC2 p.Lys574Ter (0.198) was found in patient one and TSC2 p.Arg406Ter (0.355) in patient two. Conclusions: ESC RCC in children is a rare disease, and can be misdiagnosed easily. It has unique pathological characteristics, and immunohistochemical, molecular and genetic changes. The prognosis is relatively good.


Subject(s)
Carcinoma, Renal Cell , Kidney Neoplasms , Tuberous Sclerosis Complex 2 Protein/genetics , Adolescent , Biomarkers, Tumor , Carcinoma, Renal Cell/genetics , Child , Humans , Immunohistochemistry , Kidney Neoplasms/genetics , Male , Mutation
3.
Brain Tumor Pathol ; 37(1): 14-21, 2020 Jan.
Article in English | MEDLINE | ID: mdl-31820133

ABSTRACT

Mitogen-activated protein kinase (MAPK) pathway plays a major role in pediatric low-grade gliomas (pLGGs). Immunohistochemistry with mutant-specific antibody, VE1, has appeared to be the most affordable and rapidly deployable method to identify tumors with aberrant MAPK signaling pathway, by highlighting tumor with BRAFV600E mutation. Nonetheless, positive staining cases but not associated with BRAFV600E mutation are also seen. We analyzed 62 pLGGs for the two commonest genetic aberrations in MAPK pathway: KIAA1549-BRAF fusion, using reverse-transcriptase polymerase chain reaction, and BRAFV600E mutation, using VE1 antibody and Sanger sequencing. We recorded a specificity and accuracy rate of 68.75% and 75%, respectively, for VE1, when strong cytoplasmic staining is observed. Interestingly, we observed that cells with ganglionic features frequently bind VE1 but not associated with BRAFV600E mutation. Such observation was also confirmed in four cases of differentiating neuroblastoma. This false positive staining may serve as an important confounder in the interpretation of VE1 immunoreactivity with major therapeutic implication. It is important to confirm the presence of BRAFV600E mutation by DNA-based method, especially in tumor entities not known to, or rarely harbor such mutations.


Subject(s)
Antibodies, Monoclonal , Brain Neoplasms/genetics , Brain Neoplasms/pathology , Glioma/genetics , Glioma/pathology , Staining and Labeling/methods , Gene Fusion , Humans , MAP Kinase Signaling System , Membrane Proteins/genetics , Mutation , Proto-Oncogene Proteins B-raf/genetics
4.
Brain Tumor Pathol ; 36(1): 20-26, 2019 Jan.
Article in English | MEDLINE | ID: mdl-30603845

ABSTRACT

Solitary fibrous tumors/ hemangiopericytomas (SFT/HPC) are mesenchymal tumors that share a common genetic aberration and very rarely undergo dedifferentiation. We report a unique case of an intracranial anaplastic SFT/HPC with de-novo dedifferentiation, which pursued a rapidly fatal clinical course in a 41-year-old lady. The dedifferentiated component comprised a focal area of glandular formation with epithelial immunophenotype acquisition. The distinct biphasic pattern of the tumor imparted great diagnostic challenges to the pathologists. An increased awareness of SFT/HPCs with a diverse morphologic spectrum or even a biphasic histologic pattern is essential in working up such cases. We first attempted gamma knife radiosurgery in treating a recurrent dedifferentiated SFT/HPC; unfortunately it was to no avail. Although it is now known that SFT/HPC is characterized by NAB2-STAT6 gene fusion, the unavailability of targeted therapy against this molecular signature still results in a treatment dilemma.


Subject(s)
Brain Neoplasms/pathology , Brain Neoplasms/therapy , Hemangiopericytoma/pathology , Hemangiopericytoma/therapy , Adult , Brain Neoplasms/diagnostic imaging , Brain Neoplasms/genetics , Cell Dedifferentiation , Fatal Outcome , Female , Gene Fusion , Hemangiopericytoma/diagnostic imaging , Hemangiopericytoma/genetics , Humans , Magnetic Resonance Imaging , Neoplasm Recurrence, Local , Radiosurgery , Repressor Proteins/genetics , STAT6 Transcription Factor/genetics , Tomography, X-Ray Computed
5.
Singapore Med J ; 50(12): 1123-33, 2009 Dec.
Article in English | MEDLINE | ID: mdl-20087546

ABSTRACT

Formal pathological examination of the placenta provides valuable information to the obstetrician, neonatologist, paediatrician and family. This article aims to provide the clinician with an overview of the significance of placental examination in relation to common or important pathological processes, and the utility of information obtained therein in explaining adverse outcomes, management of subsequent pregnancies, and assessment of newborn risk for the development of short- or long-term sequelae. General guidelines for placental examination, and logistical and practical issues are also discussed. Finally, the role of the placenta in the defence of obstetricians and other healthcare workers in cases of poor neonatal outcome is described.


Subject(s)
Liability, Legal , Placenta Diseases/pathology , Placenta/pathology , Female , Humans , Pregnancy , Specimen Handling
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