Intracystic invasive papillary carcinoma of the male breast with analyses of loss of heterozygosity on chromosome 16q

Abstract

A 64-year-old man noticed a right subareolar mass in May 2005. On physical examination, an oval-shaped, well-circumscribedthe tumor (6.0 x 5.5 cm in size) was located just beneath the right nipple. The tumor was elastic, firm and freely movable. Neither axillary nor supraclavicular lymph nodes were palpable. Mammography demonstrated a 5 x 5-cm, relatively distinct and dense mass without microcalcifications or spiculations. There were no findings of concurrent gynecomastia. Ultrasonography revealed a large multilocular cyst with a mural hypoechoic protruding lesion exhibiting wide-based morphology with an irregular margin. On contrast-enhanced computed tomography, the inner lesion enhanced, but direct invasion of the tumor to the major pectoral muscle was not found. An intracystic papillary lesion, possibly papillary carcinoma, was suspected. In December 2007, wide excision of the tumor was performed. On histopathological examination, the tumor had a papillary pattern with a small cribriform component in the cystic wall with microinvasion of the stroma. Marginal status was negative. The final diagnosis of the disease was a microinvasive intracystic papillary carcinoma of low grade without axillary lymph node metastases. Immunohistochemically, estrogen receptor and progesterone receptor were both positive, but negative for HER-2 protein. No LOH on 16q could be detected. The prognosis of the disease was unclear; however, the malignant potential of this condition may be more clearly determined by studying the LOH on chromosome 16q.

A novel diagnostic method targeting genomic instability in intracystic tumors of the breast

“…Although intra-tumoral heterogeneity may result in discordant cytogenetic profiles, this minor effect may be considered negligible when distinguishing malignant from benign samples by our 14 method. Moreover, cytogenetic profiles of five cancer cases showed 16q loss and 1q gain as the most frequently altered region, which is a typical cytogenetic profile of papillary breast carcinomas, as reported previously [16][17][18][19][20].…”

“…There are many reports indicating the presence of genomic alterations in intracystic papillary carcinoma of the breast [16][17][18][19][20]. We recently reported that genome-wide copy number aberrations could easily be detected by array comparative genomic hybridization (aCGH), which could then be used to quantify GIN, and that intracystic papillary carcinoma harbors significant GIN compared with intracystic papilloma [21].…”

Enlarging unilateral breast mass in an adolescent male: an unusual presentation of intraductal papilloma

“…There are several known genetic factors that can predispose affected individuals to increased risk of malignant transformation including chromosome 16p13 and -q21 tumor suppressor gene mutations. Loss of heterozygosity and TP53 deletions at the 16q23 locus may also play a role in the progression of intraductal papilloma to papillary carcinoma in male patients [12]. The incidence of invasive papillary carcinoma of the breast is surprisingly higher in male patients than female patients and tumors with a papillary or micropapillary growth pattern may account for as many as 75% of ductal carcinoma in situ cases in men [13].…”

Loss of heterozygosity on chromosome 16q suggests malignancy in core needle biopsy specimens of intraductal papillary breast lesions

“…For all 25 patients, we extracted DNA from paired samples of intraductal papillary tumor cells from CNB specimens and non-tumor cells (normal mammary glands or lymph nodes) from surgically resected specimens, as previously described [9,10]. Formalin-fixed and paraffin-embedded tissue sections, 5 to 10 μm thick, were cut using a microtome.…”

“…In a previous study, we used Southern blot analysis to examine LOH on 16q in intracystic papillary tumors using DNA isolated from frozen, paired, surgically resected samples of tumor and non-tumor tissues [7]. More recently, we reported a polymerase chain reaction (PCR)-based LOH analysis technique using DNA isolated from paraffin-embedded tumor samples [9,10]. In the study we report here, we used this PCR-based approach to assess its diagnostic utility on CNB specimens of indeterminate or suspicious intraductal papillary breast lesions.…”