Atypical teratoid rhabdoid tumor other diagnostic studies
|
Atypical teratoid rhabdoid tumor Microchapters |
|
Differentiating Atypical Teratoid Rhabdoid Tumor from other Diseases |
|---|
|
Diagnosis |
|
Treatment |
|
Case Studies |
|
Atypical teratoid rhabdoid tumor other diagnostic studies On the Web |
|
American Roentgen Ray Society Images of Atypical teratoid rhabdoid tumor other diagnostic studies |
|
FDA on Atypical teratoid rhabdoid tumor other diagnostic studies |
|
CDC on Atypical teratoid rhabdoid tumor other diagnostic studies |
|
Atypical teratoid rhabdoid tumor other diagnostic studies in the news |
|
Blogs on Atypical teratoid rhabdoid tumor other diagnostic studies |
|
Directions to Hospitals Treating Atypical teratoid rhabdoid tumor |
|
Risk calculators and risk factors for Atypical teratoid rhabdoid tumor other diagnostic studies |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Other Diagnostic Studies
- Biopsy
Usually only a minority of AT/RT biopsies have Rhabdoid cells, making diagnosis more difficult. Increasingly it is recommended that a genetic analysis be performed on the brain tumor, especially to find if a deletion in the INI1/hSNF5 gene is involved (appears to account for over 80% of the cases). The correct diagnosis of the tumor is critical to any protocol. Studies have shown that 8% to over 50% of AT/RT tumors are diagnosed incorrectly.
- Cytogenetic Studies
Cytogenetics is the study of the tumor’s genetic make-up. A technique called fluoresecene in situ hybridization (FISH) has been gaining attention in the literature because it may be able to help locate a mutation or abnormality that may be allowing tumor growth. Also, this technique has been shown to be useful in identifying some tumors and distinguishing two histologically similar tumors from each other (such as AT/RTs and PNETs). In particular, medulloblastmas/PNETs may possibly be differentiated cytogenetically from AT/RTs as chromosomal deletions of 17p are relatively common with medulloblastoma and abnormalities of 22q11.2 are not seen. On the other hand, chromosomal 22 deletions are very comomon in AT/RTs.
In importance of the hSNF5/INI1 gene located on chromosomal band 22q11.2 is highlighted in the summary paper form the Workshop on Childhood Atypical Teratoid Rhabdoid Tumors as the mutation’s presence is sufficient to change the diagnosis from a medulloblastoma or PNET to the more aggressive AT/RT classification. However, it should be noted that this mutation is not present in 100% of cases. Therefore, if the mutation is not present in an otherwise classic AT/RT immunohistochemical and morphologic pattern then the diagnosis remains an AT/RT.
- BMA (Bone Marrow Asperant) to check for bone tumors. Often a doctor will want perform a stem cell transplant
- Bone marrow biopsy
- Bone scan