LP157581-2
Del(13)(q14) & del(17)(p13)
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Description
FISH studies are commonly used to identify deletions of chromosome 13q14 and 17p13, which are known to cause chronic lymphocytic leukemia (CLL). Deletion of 13q14 is the most common chromosomal aberration in CLL and correlated with favorable prognosis. Deletion of 17p13 affects the p53 tumor suppressor gene (TP53) and has been associated with disease progression and reduced survival. Identification of these deletions is useful for choosing appropriate therapy for patients. For example, patients with deletions at 17p13 are resistant to standard therapies, such as fludarabine, but will likely benefit from more aggressive therapies, such as bone marrow transplantation.
Conventional cytogenetics (e.g. karyotyping) detects up to 50% of chromosomal aberrations whereas FISH methods detect up to 80% in patients with CLL. Urbankova, et al. (2012) showed that a subset of potentially significant genomic aberrations in CLL is being missed by cytogenetics and FISH. They demonstrated that arrayCGH analysis is robust, highly sensitive and specific and might be useful in routine screening of CLL. Urbankova, et al., suggested using a combination of conventional cytogentics, FISH and arrayCGH to determine the molecular karyotype of CLL since it is an important indicator of disease prognosis.
Source: Regenstrief LOINC, PMID: 23073527
Basic Part Properties
- Part Display Name
- Del(13)(q14) and del(17)(p13)
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2012-10-23
- Construct for LOINC Short Name
- Del(13)(q14)+del(17)(p13)
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- CodeSystem lookup
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | Del(13)(q14) 与 del(17)(p13) Synonyms: 基因缺失; |
| es-ES | Spanish (Spain) | Del(13)(q14) & del(17)(p13) |
| it-IT | Italian (Italy) | Del(13)(q14) & del(17)(p13) |
| tr-TR | Turkish (Turkey) | Del(13)(q14) & del(17)(p13) |
| ru-RU | Russian (Russian Federation) | Del(13)(q14) & del(17)(p13) |
| nl-NL | Dutch (Netherlands) | del(13)(q14) & del(17)(p13) |
LOINC Copyright
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