Clonal trisomy 4 cells detected in the ossifying renal tumor of infancy: study of 3 cases

Abstract

The ossifying renal tumor of infancy is a rare neoplasm diagnosed in the first 2 years of life, predominantly in boys. The neoplasm is primarily characterized by the presence of a large ossifying component. Its most common mode of presentation is hematuria, and it has a uniformly benign behavior. The karyotypic makeup of the process has not been reported. Thus, a study was undertaken and it allowed demonstration of clonal trisomy 4, which was confirmed by the fluorescent in-situ hybridization-probing of two additional archival formalin-fixed, paraffin-imbedded similar tumors. On the basis of the findings in these three cases, it seems that clonal trisomy 4 may be considered as a characteristic of the tumor, which makes it distinct from any other infantile renal tumor.

An Approach to Renal Masses in Pediatrics

“…Boys are more commonly affected, and gross hematuria is almost always observed 7,159 due to bulging of the tumor into the pelvicalyceal system. 160 A soft tissue mass with calcifications near the renal pelvis and no significant contrast enhancement may be seen on CT. 7,21,160 Histologically, ORTI is characterized by 3 major components: an osteoid core, osteoblastlike cells, and spindle cells. 160 The best treatment approach for this tumor involves resection 6 with kidney preservation techniques.…”

“…160 A soft tissue mass with calcifications near the renal pelvis and no significant contrast enhancement may be seen on CT. 7,21,160 Histologically, ORTI is characterized by 3 major components: an osteoid core, osteoblastlike cells, and spindle cells. 160 The best treatment approach for this tumor involves resection 6 with kidney preservation techniques. 161 Reninoma Reninoma, also known as juxtaglomerular cell tumor, is a rare, benign cause of curable hypertension in children and adolescents.…”

Ossifying Renal Tumor of Infancy: Laparoscopic Treatment and Literature Review

“…As these tumors arise from the renal papillae and extend into the collecting system, they can eventually lead to an obstructive process [ 1 , 5 , 11 ]. In regard to karyotype, clonal trisomy 4 has been reported as a characteristic finding using florescent in situ hybridization-probing [ 12 ]. In 2017, Vaillancourt and colleagues reported the first case of an ossifying renal tumor of infancy with positive WT-1 immunohistochemistry staining [ 2 ].…”

“…When surgically feasible, a nephron sparing surgery can provide adequate surgical outcomes. In children with solid renal tumors, an open surgical approach using a large transverse abdominal incision has traditionally been used [ 12 ]. In adult patients with renal tumors, multi-institutional studies have proved the efficacy and safety of laparoscopic nephrectomy; however, there remains a lack of prospective multicenter data regarding minimally invasive approaches in the pediatric literature [ 15 – 17 ].…”

Ossifying Renal Tumor of Infancy: Report of a Case With Positive WT1 Immunohistochemistry and High Mitotic Index and Review of the Literature

“…Ossifying renal tumor of infancy (ORTI) is a rare benign neoplasm of the kidney in infants, first described by Chatten in 1980 1 with 23 cases reported in the literature. [1][2][3][4][5][6][7][8][9][10][11][12][13] Patients usually present with gross hematuria and a calcified mass protruding into the renal pelvis on imaging. 2 Histologically, it is recognized as an osteoid matrix surrounded by 2 populations of cells: an epithelioid component of osteoblast-like cells and a blastemal-like component of round, oval, or spindle cells.…”