Wilms' tumor associated with vertebral anomalies
Serhan Küpeli1, Funda Tekkeşin, Ali Varan
1Department of Pediatric Oncology, Institute of Oncology, Hacettepe University, Ankara, Turkey. serkupeli@yahoo.com
Journal of Pediatric Hematology/Oncology
|May 7, 2008
Summary
Wilms tumor (WT) is rarely associated with complex vertebral malformations. This case highlights butterfly vertebrae and hemivertebrae in a WT patient, emphasizing the need for spinal screening in WT diagnosis.
Area of Science:
- Medical Science
- Pediatric Oncology
- Radiology
Background:
- Wilms tumor (WT) is a pediatric kidney cancer.
- Vertebral anomalies like hemivertebrae and fusion anomalies are known associations with WT.
- Diagnostic work-up for WT often includes imaging to assess tumor extension.
Observation:
- A rare case of complex vertebral malformations was identified in a patient with Wilms tumor.
- The observed anomalies included butterfly vertebrae at T3 and T8, and hemivertebrae at T2 and T7.
- These findings were determined during the initial examination for tumoral extension.
Findings:
- The study reports a unique combination of butterfly and hemivertebrae in a patient diagnosed with Wilms tumor.
- This specific presentation of vertebral malformations is rare in the context of WT.
- The vertebral anomalies were incidentally discovered during the staging of the Wilms tumor.
Implications:
- The findings suggest that a thorough investigation of vertebral malformations should be an integral part of the diagnostic work-up for patients with Wilms tumor.
- Early identification of such anomalies may aid in understanding disease presentation and potential co-occurring conditions.
- Radiological screening for spinal abnormalities in pediatric patients with WT is recommended.
Related Concept Videos
02:54Canonical Wnt Signaling Pathway
The gene encoding the main signaling molecules of the Wnt signaling pathways (the Wnt proteins) was discovered almost four decades ago by Nüsslein-Volhard and Wieschaus. They identified and originally named the gene "wingless" (wg) after a phenotype discovered during their landmark genetic screen in Drosophila for body pattern defects. At around the same time, another researcher named Harold Varmus found that a murine tumor virus activates the mammalian wg homolog, Int-1, which results in tumor...
01:30Neurulation
Neurulation is the embryological process which forms the precursors of the central nervous system and occurs after gastrulation has established the three primary cell layers of the embryo: ectoderm, mesoderm, and endoderm. In humans, the majority of this system is formed via primary neurulation, in which the central portion of the ectoderm—originally appearing as a flat sheet of cells—folds upwards and inwards, sealing off to form a hollow neural tube. As development proceeds, the anterior...
01:41Non-Canonical Wnt Signaling Pathways
Wnt is a zygotic effect gene that is expressed during very early embryonic development. It regulates various processes in animals starting from early development through the adult stage, such as organogenesis in the embryo and maintenance of neuronal and blood stem cells. Wnt proteins can induce a wide variety of intracellular pathways depending upon the specific abilities of different Wnt ligands to form a complex with shared and cognate receptors in the presence of different co-receptors. The...
01:16Vertebral Column: Regions and Curvature
The vertebral column or spine is a flexible column that supports the head, neck, and body and allows for their movements. It also protects the spinal cord.
Regions of the Vertebral Column
In an adult, the spine is subdivided into five regions: the cervical, the thoracic, the lumbar, the sacral, and the coccygeal region. The spine initially develops as a series of 33 vertebrae; after 20 years of age, the nine bones in the sacral region, five sacral, and four coccygeal bones fuse to form the...
Regions of the Vertebral Column
In an adult, the spine is subdivided into five regions: the cervical, the thoracic, the lumbar, the sacral, and the coccygeal region. The spine initially develops as a series of 33 vertebrae; after 20 years of age, the nine bones in the sacral region, five sacral, and four coccygeal bones fuse to form the...
01:20The Retinoblastoma Gene
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
01:33Pleiotropy
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...