CLPTM1L

Overview

CLPTM1L (Cleft Lip and Palate Transmembrane Protein 1-Like) is a transmembrane protein located at chromosomal locus 5p15.33, immediately proximal to the TERT gene. It resides within a genomic region that is subject to structural rearrangements in high-risk neuroblastoma that bring distal enhancer elements into proximity with TERT. Although CLPTM1L itself is not a driver gene in neuroblastoma, its genomic position makes it a useful cytogenetic landmark for detecting TERT locus rearrangements.

Alterations observed in the corpus

  • CLPTM1L is the proximal-side neighbour of TERT at 5p15.33 and, in contrast to the distal neighbours SLC6A18/SLC6A19, is not transcriptionally upregulated in TERT-rearranged neuroblastoma tumors; it is used as the FISH probe target (BAC CTD-2191M2) to call structural rearrangements at the TERT locus in the validation cohort of 217 high-risk neuroblastoma cases PMID:26466568.
  • CLPTM1L — frequent structural breakpoints (15% of patients, 22 breakpoints across 6 samples) and consensus copy gain on Chr 5p adjacent to TERT in acral lentiginous melanoma (ALM); recurrent translocation partner with ADCY2, PDZD2, RAI14, and TRIO; all events occurred in BRAF wild-type tumors PMID:28373299

Cancer types (linked)

  • NBL: CLPTM1L serves as a FISH anchor probe at the 5p15.33 locus to detect TERT-activating structural rearrangements in high-risk neuroblastoma; rearrangements were detected in 28/217 (13%) of the extended cohort PMID:26466568.

Co-occurrence and mutual exclusivity

  • TERT rearrangements (detected using CLPTM1L as a FISH reference) are mutually exclusive with MYCN amplification and ATRX mutation in high-risk neuroblastoma, together forming three distinct axes of telomere maintenance PMID:26466568.

Therapeutic relevance

  • No direct therapeutic relevance for CLPTM1L itself. The TERT rearrangements it marks nominally support telomerase inhibitor strategies for the TERT-rearranged subgroup of high-risk neuroblastoma PMID:26466568.

Open questions

  • Whether CLPTM1L expression or function contributes to neuroblastoma biology independent of its role as a cytogenetic reference point has not been explored in this corpus.

Sources

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