PMID- 19968660
OWN - NLM
STAT- MEDLINE
DCOM- 20100817
LR  - 20101129
IS  - 1524-4741 (Electronic)
IS  - 1075-122X (Linking)
VI  - 16
IP  - 1
DP  - 2010 Jan-Feb
TI  - Synchronous bilateral breast carcinoma in a patient with cowden syndrome: a case 
      report with morphologic, immunohistochemical and genetic analysis.
PG  - 77-81
LID - 10.1111/j.1524-4741.2009.00846.x [doi]
AB  - Synchronous bilateral breast carcinoma (SBBC) and early onset are important 
      characteristics of hereditary cases. The lifetime risk for breast carcinoma in 
      Cowden syndrome (CS) is estimated to be 25-50%. We reported a 44-year-old woman 
      presenting SBBC and characteristic mucocutaneous lesions of CS, confirmed by PTEN 
      gene mutation analysis. Bilateral modified mastectomy and axillary dissection 
      were performed. Histopathologic examination revealed a moderate-differentiated 
      invasive ductal carcinoma with mixed features of luminal A immunophenotype 
      (Estrogen and/or Progesterone Receptors >50% and/or Ki67 < 30% of positive 
      cells). The skin lesions showed the characteristic findings of tricholemmoma. 
      Lack of PTEN expression was observed in all specimens. Sequencing analysis 
      confirmed the presence of PTEN splice-acceptor site mutation in intron 8 
      (c.1027-2A>G), a germline mutation which had not been previously reported in CS. 
      The patient received adjuvant chemotherapy and tamoxifen for 5 years. After 5 
      years of follow-up, she persists recurrence-free. SBBC with early onset suggests 
      a hereditary predisposition. Thus, analysis of PTEN expression abnormality, 
      easily assessed by immunohistochemistry, may be of clinical value to screen those 
      patients with CS.
FAU - Peiro, Gloria
AU  - Peiro G
AD  - Research Unit, Hospital General Univrsitari d'Alacant, Alacant, Spain. 
      peiro_glo@gva.es
FAU - Adrover, Encarna
AU  - Adrover E
FAU - Guijarro, Jaime
AU  - Guijarro J
FAU - Ballester, Irene
AU  - Ballester I
FAU - Jimenez, M Jose
AU  - Jimenez MJ
FAU - Planelles, Maria
AU  - Planelles M
FAU - Catasus, Lluis
AU  - Catasus L
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20091023
PL  - United States
TA  - Breast J
JT  - The breast journal
JID - 9505539
SB  - IM
MH  - Adult
MH  - Axilla
MH  - Biopsy, Needle
MH  - Breast Neoplasms/drug therapy/*pathology/surgery
MH  - Breast Self-Examination
MH  - Carcinoma, Ductal, Breast/drug therapy/genetics/*pathology/surgery
MH  - Chemotherapy, Adjuvant
MH  - Female
MH  - Follow-Up Studies
MH  - Genetic Testing
MH  - Hamartoma Syndrome, Multiple/*diagnosis
MH  - Humans
MH  - Immunohistochemistry
MH  - Lymph Node Excision/*methods
MH  - Lymph Nodes/pathology/surgery
MH  - Magnetic Resonance Imaging
MH  - Mammography/methods
MH  - Mastectomy/*methods
MH  - Neoplasm Staging
MH  - Neoplasms, Multiple Primary/drug therapy/*pathology/surgery
MH  - Treatment Outcome
EDAT- 2009/12/09 06:00
MHDA- 2010/08/18 06:00
CRDT- 2009/12/09 06:00
PHST- 2009/12/09 06:00 [entrez]
PHST- 2009/12/09 06:00 [pubmed]
PHST- 2010/08/18 06:00 [medline]
AID - TBJ846 [pii]
AID - 10.1111/j.1524-4741.2009.00846.x [doi]
PST - ppublish
SO  - Breast J. 2010 Jan-Feb;16(1):77-81. doi: 10.1111/j.1524-4741.2009.00846.x. Epub 
      2009 Oct 23.