Cytogenetic analysis of metaplastic squamous cell carcinoma of the breast inter- and intratumoral heterogeneity.
BACKGROUND
Squamous cell carcinoma (SCC) of the breast is a rare and generally aggressive disease that accounts for less than 0.1% of all breast carcinomas. Although SCCs have distinct morphological features, their origin and cytogenetic profile are not well understood.


METHODS
Five patients with SCC were studied. The tumor area that was predominantly composed of SCC components was macrodissected and DNA was extracted. In three cases, an invasive or noninvasive ductal carcinoma of no special type (NST) component was also present. NST-component DNA was also extracted. The tumor DNA was used for array comparative genomic hybridization analysis using a high-density oligonucleotide microarray. The cytogenetic profile of the SCC components was compared with each other and with the paired NST component in three of the five cases.


RESULTS
The cytogenetic profile of the SCC components indicated large intertumoral heterogeneity. There were between 2 and 160 copy number alterations per case, and no common copy number alterations were identified. The cytogenetic profiles of the paired SCC and NST components were similar but not identical. Although, in one case, a larger number of copy number aberrant regions were detected in the SCC component than the NST component. In this case, all the NST component aberrations were present in the SCC component. This implies that the SCC component originated from the NST component. There were no common SCC component-specific aberrations in the three NST-component cases.


CONCLUSIONS
Our results demonstrate the cytogenetic inter- and intratumoral heterogeneity of SCC of the breast. Our comparison of cytogenetic profiles indicated that the SCC component originated from the NST component in one case.
The Departments of Breast Oncology, National Kyushu Cancer Center, 3-1-1 Notame, Minami-ku, Fukuoka, 811-1347, Japan.|The Department of Breast Surgery, New-wa-kai Oikawa Hospital, Fukuoka, Japan.|The Department of Surgical Oncology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Masahiro
M
Oikawa
The Departments of Breast Oncology, National Kyushu Cancer Center, 3-1-1 Notame, Minami-ku, Fukuoka, 811-1347, Japan.
Akiko
A
Igawa
The Departments of Pathology, National Kyushu Cancer Center, Fukuoka, Japan.
Kenichi
K
Taguchi
The Departments of Breast Oncology, National Kyushu Cancer Center, 3-1-1 Notame, Minami-ku, Fukuoka, 811-1347, Japan.
Kimiko
K
Baba
The Departments of Breast Oncology, National Kyushu Cancer Center, 3-1-1 Notame, Minami-ku, Fukuoka, 811-1347, Japan.
Mayumi
M
Ishida
The Departments of Breast Oncology, National Kyushu Cancer Center, 3-1-1 Notame, Minami-ku, Fukuoka, 811-1347, Japan.
Sayuri
S
Akiyoshi
The Department of Surgical Oncology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Hiroshi
H
Yano
The Department of Surgical Oncology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Takeshi
T
Nagayasu
The Breast Oncology Center, The Cancer Institute Hospital of JFCR, Tokyo, Japan.
Shinji
S
Ohno
The Departments of Breast Oncology, National Kyushu Cancer Center, 3-1-1 Notame, Minami-ku, Fukuoka, 811-1347, Japan. tokunaga.e@nk-cc.go.jp.
Eriko
E
Tokunaga
D000368:Aged; D001940:Breast / Q000473:pathology; D001943:Breast Neoplasms / Q000235:genetics* / Q000473:pathology; D018270:Carcinoma, Ductal, Breast / Q000235:genetics* / Q000473:pathology; D002294:Carcinoma, Squamous Cell / Q000235:genetics* / Q000473:pathology; D002869:Chromosome Aberrations; D055028:Comparative Genomic Hybridization; D020732:Cytogenetic Analysis / Q000379:methods; D056915:DNA Copy Number Variations / Q000235:genetics; D005260:Female; D006801:Humans; D008408:Mastectomy; D008875:Middle Aged; D020411:Oligonucleotide Array Sequence Analysis; D021701:Sentinel Lymph Node Biopsy
Array CGH; Breast cancer; Pathology; Squamous cell carcinoma; Tumor heterogeneity