nephrogenic rest
Recently Published Documents


TOTAL DOCUMENTS

27
(FIVE YEARS 2)

H-INDEX

6
(FIVE YEARS 0)

2021 ◽  
pp. 109352662098650
Author(s):  
Jonathan C Slack ◽  
Marie-Anne Bründler ◽  
Caitlin A Chang ◽  
Renee Perrier ◽  
Lucie Lafay-Cousin ◽  
...  

Mosaic RASopathies are an emerging group of disorders characterized by mosaic or post-zygotic activating mutations in genes of the RAS/MAPKinase signaling pathway. The phenotype is highly variable, ranging from limited or localized forms to cases with a syndromic presentation with extensive or multiorgan involvement, and also overlaps with other mosaic disorders. While there are several reports of malignancies in patients with mosaic RASopathies, specifically rhabdomyosarcoma and transitional urothelial carcinoma, the lifetime risk and molecular mechanisms that lead to the development of malignancies remain unclear. We report a 22-month-old boy with a somatic RASopathy due to an underlying KRAS p.G12D mutation who presented with a large unilateral epidermal nevus, asymmetric lower limb overgrowth with lytic and sclerotic bone lesions, capillary malformation, bilateral nephrogenic rests and Wilms tumors, and a novel complex renal vascular anomaly that resembles Fibro-Adipose Vascular Anomaly (FAVA). This report further expands the phenotypic spectrum of somatic RASopathies, and discusses the potential phenotypic and pathogenetic overlap with PIK3CA-related overgrowth disorders, specifically CLOVES. The occurrence of a secondary cancer hotspot mutation ( FBXW7 p.R479G ) in the Wilms tumor, but not the associated nephrogenic rest, moreover suggests that additional driver mutations are involved in the development of Wilms tumor in somatic overgrowth disorders.


In Vivo ◽  
2021 ◽  
Vol 35 (4) ◽  
pp. 2159-2162
Author(s):  
BEATRIX SARKANY ◽  
GYULA KOVACS ◽  
DANIEL BANYAI

2018 ◽  
Vol 1 (12) ◽  
pp. 371-372
Author(s):  
Kandla Sharma ◽  
Ankit Mangla

Nephrogenic rest is the metanephric blastema that persists at birth. When found in multiple numbers, these rests are referred to as nephroblastomatosis. We report a rare case of a 3 month old female infant with bilateral nephroblastoma detected soon after birth and treated successfully with chemotherapy alone. Regular investigative procedures are a must to reveal these kind of rare disorders.


2015 ◽  
Vol 18 (3) ◽  
pp. 245-250 ◽  
Author(s):  
Mlnzhi Yin ◽  
Jiaoyang Cai ◽  
Paul Scott Thorner

2012 ◽  
Vol 32 (6) ◽  
pp. 649-651 ◽  
Author(s):  
Dimitris Antoniou ◽  
Ierotheos Loukas ◽  
Vassilios Papadakis

2012 ◽  
Vol 31 (4) ◽  
pp. 260-264 ◽  
Author(s):  
Charlotte Katherine Steelman ◽  
Lucas L Bannister ◽  
Matthew Palmer ◽  
Tiffany S. Chang ◽  
Nancy Elawabdeh ◽  
...  

Sign in / Sign up

Export Citation Format

Share Document