PMID- 18329553
OWN - NLM
STAT- MEDLINE
DCOM- 20080417
LR  - 20211020
IS  - 1054-8807 (Print)
IS  - 1054-8807 (Linking)
VI  - 17
IP  - 2
DP  - 2008 Mar-Apr
TI  - Loss of the PTCH1 gene locus in cardiac fibroma.
PG  - 93-7
LID - 10.1016/j.carpath.2007.08.001 [doi]
AB  - BACKGROUND: Cardiac fibroma (CF) is a rare benign tumor that is poorly 
      characterized genetically. CF is more commonly encountered in patients with 
      Gorlin syndrome (3%) than the general population. Mutations of the tumor 
      suppressor gene PTCH1 are the underlying cause of Gorlin syndrome. METHODS: 
      Conventional cytogenetic analysis was performed on a peripheral blood and a CF 
      sample from a 2-week-old male. In addition, fluorescence in situ hybridization 
      (FISH) studies were performed to assess the copy number of the PTCH1 gene locus 
      (9q22.3) on metaphase and interphase cells from these same specimens using yeast 
      artificial protein (YAC) probe 891G1 and on representative paraffin-embedded 
      tissue sections of two additional CFs (one arising in a 2-month-old female and 
      the other in a 13-week-old male). None of the patients had Gorlin syndrome. 
      RESULTS: Karyotypically, the following abnormal chromosomal complement was 
      detected in the 2-week-old male's CF: 46,XY,del(9)(q22q34)[15]. FISH studies 
      revealed homozygous loss of the PTCH1 locus in the cytogenetically analyzed CF 
      and in the CF arising in the 13-week-old male. Heterozygous loss of this locus 
      was identified in the remaining CF from the 2-month-old female. A mutational 
      mechanism other than deletion may be responsible for PTCH1 inactivation on the 
      other locus in this latter patient. Conventional cytogenetic and FISH studies of 
      the peripheral blood sample from the 2-week-old male were normal. CONCLUSION: 
      These data support a tumor suppressor gene role for PTCH1 in nonsyndromic or 
      sporadic CFs.
FAU - Scanlan, David
AU  - Scanlan D
AD  - Department of Pathology and Microbiology, University of Nebraska Medical Center, 
      Omaha, NE 68198-8135, USA.
FAU - Radio, Stanley J
AU  - Radio SJ
FAU - Nelson, Marilu
AU  - Nelson M
FAU - Zhou, Ming
AU  - Zhou M
FAU - Streblow, Renae
AU  - Streblow R
FAU - Prasad, Vinay
AU  - Prasad V
FAU - Reyes, Christine
AU  - Reyes C
FAU - Perry, Deborah
AU  - Perry D
FAU - Fletcher, Scott
AU  - Fletcher S
FAU - Bridge, Julia A
AU  - Bridge JA
LA  - eng
GR  - P30 CA036727-169009/CA/NCI NIH HHS/United States
GR  - P30 CA/CA/NCI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
DEP - 20071024
PL  - United States
TA  - Cardiovasc Pathol
JT  - Cardiovascular pathology : the official journal of the Society for Cardiovascular 
      Pathology
JID - 9212060
RN  - 0 (PTCH1 protein, human)
RN  - 0 (Patched Receptors)
RN  - 0 (Patched-1 Receptor)
RN  - 0 (Receptors, Cell Surface)
SB  - IM
MH  - Basal Cell Nevus Syndrome/genetics
MH  - *Chromosome Aberrations
MH  - Female
MH  - Fibroma/*genetics/pathology
MH  - *Gene Deletion
MH  - Heart Neoplasms/*genetics/pathology
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Infant, Newborn
MH  - Male
MH  - Patched Receptors
MH  - Patched-1 Receptor
MH  - Receptors, Cell Surface/*genetics
MH  - Spectral Karyotyping
PMC - PMC2342874
MID - NIHMS43521
EDAT- 2008/03/11 09:00
MHDA- 2008/04/18 09:00
PMCR- 2009/03/01
CRDT- 2008/03/11 09:00
PHST- 2007/04/30 00:00 [received]
PHST- 2007/07/23 00:00 [revised]
PHST- 2007/08/08 00:00 [accepted]
PHST- 2008/03/11 09:00 [pubmed]
PHST- 2008/04/18 09:00 [medline]
PHST- 2008/03/11 09:00 [entrez]
PHST- 2009/03/01 00:00 [pmc-release]
AID - S1054-8807(07)00135-4 [pii]
AID - 10.1016/j.carpath.2007.08.001 [doi]
PST - ppublish
SO  - Cardiovasc Pathol. 2008 Mar-Apr;17(2):93-7. doi: 10.1016/j.carpath.2007.08.001. 
      Epub 2007 Oct 24.