Pediatric cystic nephroma

2021-07-09   Paola Dal Cin, PhD , Rita Alaggio, MD 

1.IRCCS Ospedale Bambino Gesú , Roma (Italy)
2.Brigham and Women's Hospital , Harvard Medical School, Boston , MA (USA)

Keywords
Pediatric renal tumor, Benign renal tumor, DICER1 mutation, DICER1 syndrome

Classification

Definition

Cystic nephromas (CNs) are uncommon benign renal neoplasms affecting children. The existence of clinical, morphological and genetic differences between pediatric and adult CN, supports an independent classification. The presence of cystic nephroma in a child or young adult should alert the clinician to the possibility of a germline mutation in DICER1.

Clinics and Pathology

Epidemiology

Almost exclusively occurs in children younger than 4 years old, most of whom are boys with DICER1 syndrome manifestations OMIM: 60120.1,2  However, 10% to 20% appears to arise de novo.

Clinical features

Palpable relatively well circumscribed large unilateral abdominal mass incidentally found, but familial forms may present bilaterally.3

Macroscopic apperances

Poorly encapsulated mass .4

Histopathology

Well delineated, multilocular exclusively cystic neoplasm with absence of immature nephrogenic elements, and variation in septal thickness, variation in cyst size and shape, and degree of pericystic stromal condensation.4

Immunohistochemistry

Diffuse stromal immunoreactivity for estrogen.5

Cytogenetics

Prognosis and treatment

Resection with excellent prognosis if completely excised .

Genetics

Mutations

DICER1 mutations in 90% of CN cases , either resulted in premature truncation of the DICER1 protein (deleterious truncating mutations) or involve specific amino acids in the RNase IIIb domain including insertion-deletions with frameshifts, nonsense mutations .4-7  DICER1 mutations have not been found in cystic partially differentiated nephroblastoma. 6

Article Bibliography

Reference NumberPubmed IDLast YearTitleAuthors

Citation

Paola Dal Cin ; Rita Alaggio

Pediatric cystic nephroma

Atlas Genet Cytogenet Oncol Haematol. 2021-07-09

Online version: http://atlasgeneticsoncology.org/solid-tumor/208917/tumors-explorer/favicon/favicon-32x32.png