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Congenital mesoblastic nephroma: a study of 19 cases using immunohistochemistry and ETV6-NTRK3 fusion gene rearrangement
- Source :
- Pathology. 48(1)
- Publication Year :
- 2015
-
Abstract
- Mesoblastic nephroma (MN) is the most common renal tumour in the first 3 months of life and accounts for 3-5% of all paediatric renal neoplasms. To further understand the morphological variants of MN, we identified 19 cases of MN (five classic, eight cellular and six mixed) and examined each case for markers known to be important in urogenital embryological development (PAX8, WT1 and RCC), stem cell associated markers (Oct 4, CD34 and c-kit), muscle/myofibroblastic markers (muscle specific actin, calponin and h-caldesmon), aberrant transcription factors, cell cycle regulation and other oncogenic proteins (p16, cyclin D1 and beta-catenin). Fluorescence in situ hybridisation (FISH) testing for ETV6-NTRK3 gene fusion/rearrangement revealed further differentiation between the subtypes with ETV6-NTRK3 gene fusion detected in 0/5 of the classic MN, 8/8 of the cellular MN and 5/6 of the mixed MN cohorts, respectively. Our results conclude that cyclin D1 and beta-catenin may be useful markers for differentiating between cellular MN and classic MN when the histology is not conclusive. The absence of expression of stem cell markers and markers involved in urogenital development suggests that MN is not a nephroma and most likely represents a soft tissue tumour, with congenital infantile fibrosarcoma representing cellular MN with a predilection to arise in the kidney. In addition, the immunophenotype and genetic fingerprint of mixed MN most likely represents a heterogenous group of tumours that are mostly cellular type, with areas that are phenotypically less cellular.
- Subjects :
- 0301 basic medicine
Male
Pathology
medicine.medical_specialty
Congenital Mesoblastic Nephroma
Oncogene Proteins, Fusion
Fibrosarcoma
Calponin
Mesoblastic nephroma
Soft Tissue Neoplasms
Biology
Stem cell marker
Pathology and Forensic Medicine
03 medical and health sciences
0302 clinical medicine
Cyclin D1
medicine
Humans
Nephroma, Mesoblastic
In Situ Hybridization, Fluorescence
beta Catenin
Gene Rearrangement
Infant, Newborn
Infant
Gene rearrangement
medicine.disease
biology.organism_classification
Immunohistochemistry
Kidney Neoplasms
030104 developmental biology
030220 oncology & carcinogenesis
biology.protein
Cancer research
Female
Nephroma
PAX8
Subjects
Details
- ISSN :
- 14653931
- Volume :
- 48
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Pathology
- Accession number :
- edsair.doi.dedup.....1deac9836f625fdb379153ba6c93a504