Clinical outcome and predictive factors for docetaxel and epirubicin neoadjuvant chemotherapy of locally advanced breast cancer.

BACKGROUND/AIMS: We evaluated the efficacy of docetaxel and epirubicin as neoadjuvant chemotherapy in locally advanced breast cancer and assessed the predictive factors for response to neoadjuvant chemotherapy and prognostic factors related to relapse-free survival. METHODS: Forty patients who received docetaxel and epirubicinas neoadjuvant chemotherapy for locally advanced breast cancer were evaluated retrospectively. Neoadjuvant chemotherapy consisted of intravenous injection of 75 mg/m2 docetaxel and 60 mg/m2 epirubucin on day 1, every 21 days, and two to six cycles. RESULTS: Twenty-five (62.5%) patients showed a partial response, and 15 (37.5%) patients showed a stable disease in the first response evaluation after two or three cycles of neoadjuvant chemotherapy. In the second response evaluation of nine patients who received six cycles of neoadjuvant chemotherapy, one patient achieved a complete response, but two patients with hormone receptor-negative, human epidermal growth factor receptor 2-positive breast cancer experienced disease progression. Twenty-five (62.5%) patients experienced downstaging after neoadjuvant chemotherapy. Patients with > 20% pretreatment Ki-67 and decrease of Ki-67 between pre- and post-neoadjuvant chemotherapy showed a trend for better response. In multivariate analysis, advanced pathological stage showed a significant negative effect on relapse-free survival. CONCLUSION: Docetaxel and epirubicin neoadjuvant chemotherapy showed a good response in locally advanced breast cancer. Pretreatment Ki-67 and change of Ki-67 may play a role as predictive factor for response to neoadjuvant chemotherapy.

PTEN Mutation Identified in Patient Diagnosed with Simultaneous Multiple Cancers.

PTEN hamartoma tumor syndrome is a spectrum of disorders characterized by unique phenotypic features including multiple hamartomas caused by mutations of the tumor suppressor gene PTEN. Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome are representative diseases, and both have several common clinical features and differences. Because PTEN mutations are associated with an increased risk of malignancy including breast, thyroid, endometrial, and renal cancers, cancer surveillance is an important element of disease management. We report a germline mutation of the PTEN (c.723dupT, exon 7) identified in a young woman with a simultaneous occurrence of breast cancer, dermatofibrosarcoma protuberans, and follicular neoplasm. This case suggests that it is critical for clinicians to recognize the phenotypic features associated with these syndromes to accurately diagnose them and provide preventive care.

Thymic carcinoma initially presented with geographic destruction of scapula in a child.

As the conventional histopathologic examination of thymic carcinoma (TC) is nonspecific, immunohistochemical studies along with correlative radiographic investigations are needed for its correct diagnosis. TC commonly occurs in the late 5th to early 6th decades of life but is extremely rare in childhood. It may be incidentally detected from chest radiographs taken as routine or for other reasons. However, most patients present with symptoms such as chest pain, cough, shortness of breath, dysphagia and hoarseness, which are directly attributable to the mediastinal mass. Although TC frequently invades the neighboring organs, pleura and pericardium and metastasizes to the lymph nodes, liver and lung at the time of the first diagnosis, initial or late metastasis to the bone has been seldom reported in adults. Indeed, the English literature revealed no earlier report on initial bony metastasis in a child to date. We report a case of TC in a 12-year-old boy who initially presented with scapular osteolysis masquerading as a primary bone tumor to emphasize the usefulness of combined imaging for staging and histologic studies, particularly for such an unexpected case.

Sonography of Invasive Apocrine Carcinoma of the Breast in Five Cases.

OBJECTIVE: To evaluate the sonographic features of invasive apocrine carcinoma (IAC) of the breast. MATERIALS AND METHODS: This study included five pathologically proven cases of IAC, and their sonographic features were retrospectively analyzed according to the Breast Imaging Reporting and Data System (BI-RADS) lexicon. RESULTS: All five lesions involved the left breast and were seen as irregularly shaped masses. All lesions, except one, had a parallel orientation to the chest wall. All five lesions showed noncircumscribed margins and heterogeneous echotexture; however, they showed various posterior features. One lesion had edema as an associated feature. Sonographic assessments were classified as BI-RADS category 4 in all five cases. CONCLUSION: Invasive apocrine carcinoma sonographic findings are difficult to differentiate from those of invasive ductal carcinoma of no special type.

Pseudocirrhosis of breast cancer metastases to the liver treated by chemotherapy.

Pseudocirrhosis refers to a condition that shows changes in hepatic contour that mimic cirrhosis radiographically in the absence of the typical histopathological findings of cirrhosis. This condition has been observed in patients with cancer metastatic to the liver, both in those who have undergone prior systemic chemotherapy and those who have not. Pseudocirrhosis may cause difficulty in interpretation of the response to chemotherapy and hepatic decompression and complication of portal hypertension have a negative effect on the prognosis. We report on a case of breast cancer with liver metastases that showed cirrhotic changes during disease progression. Progression of liver metastases was confirmed by F18 fluorodeoxyglucose positron emission tomography/computed tomography (PET-CT). We also performed ultrasound-guided liver biopsy and confirmed tumor infiltration with severe desmoplastic fibrosis. This case suggests the pathogenesis of pseudocirrhosis through histopathological findings and the role of PET-CT in evaluation of the response to chemotherapy in patients with pseudocirrhosis.

Colonic lipoma covered by hyperplastic epithelium: Case report.

Colonic lipomas are submucosal nonepithelial tumors covered by intact or eroded mucosa. In rare cases, alterations in the mucosa covering a lipoma include hyperplasia, adenoma, atrophy, ulceration, and necrosis. Here, we report a case of a colonic lipoma covered by hyperplastic epithelium in a 68-year-old woman. Based on the colonoscopy findings, a snare polypectomy was performed for a presumptive diagnosis of an epithelial lesion; however, the histological examination revealed a colonic submucosal lipoma with overlying hyperplastic epithelium.

Huge tophaceous pseudogout associated with tenosynovial chondromatosis arising from flexor digitorum tendon sheaths of the foot: a case report.

Synovial chondromatosis (SC) is a benign proliferative process of synovial tissue creating multiple cartilaginous nodules in joints. It most commonly occurs in the large joints of the knee, hip, and shoulder, uncommonly in the small joints of the hand and foot, and only rarely in the tenosynovial membrane of tendon sheath, termed tenosynovial chondromatosis (TC). Unlike SC, TC predisposes to the foot or hand. The rarity and unfamiliarity of imagers with TC, as well as the variability of its histologic features often lead to an erroneous diagnosis of extraskeletal chondroma or even chondrosarcoma as in the present case. Calcium pyrophosphate dehydrate (CPPD) crystals are usually deposited in the articular cartilage or periarticular structures such as synovium and capsule, and rarely in other soft tissue structures including bursa, tendon, subcutaneous tissue, and dura mater. CPPD crystals may also be deposited in extraskeletal chondroma and SC. We present an exceptionally rare case of huge tophaceous pseudogout associated with TC that is considered to arise from the flexor digitorum longus tendon sheaths of the foot, initially mistaken for a chondrosarcoma.

Primary neuroendocrine tumor of the breast: imaging features.

Focal neuroendocrine differentiation can be found in diverse histological types of breast tumors. However, the term, neuroendocrine breast tumor, indicates the diffuse expression of neuroendocrine markers in more than 50% of the tumor cell population. The imaging features of neuroendocrine breast tumor have not been accurately described due to extreme rarity of this tumor type. We present a case of a pathologically confirmed, primary neuroendocrine breast tumor in a 42-year-old woman, with imaging findings difficult to be differentiated from that of invasive ductal carcinoma.

Clear cell carcinomas of the ovary: a multi-institutional study of 129 cases in Korea with prognostic significance of Emi1 and Galectin-3.

Accurate diagnosis of ovarian clear cell carcinoma (CCC) is important because of its poor prognosis with chemoresistance and a high recurrent rate. The clinicopathologic characteristics and prognostic significance of the cell cycle regulator [early mitotic inhibitor-1 (Emi1)] and galactoside-binding protein (Galectin-3) were evaluated. Among 155 CCCs from 18 hospitals in Korea between 1995 and 2006, 129 pure CCCs were selected with consensus using immunohistochemical stains for hepatocyte nuclear factor-1ß, Wilms' tumor protein, and estrogen receptor. The expressions of Emi1, Galectin-3, p53, and Ki-67 labeling index were analyzed with clinicopathologic parameters and the patient's survival. The mean age of the patients was 49.6 yr; the tumors were bilateral in 10.9%, and the average size was 12 cm. Adenofibromatous component was found in 7%, and endometriosis in 48.1% of the cases. Psammoma body was seen in 16.3%. Disease-free survival and overall survival rates were 78.3% and 79.1%, respectively. The International Federation of Obstetrics and Gynecology (FIGO) stage was the most important prognostic indicator. Emi1 expression (>5%) was seen in 23.3% of CCCs, and associated with high FIGO grades and poor overall survival (P<0.05). High Galectin-3 (≥80%) expression was seen in 59.7% of CCCs, and associated with FIGO stages III and IV, and high Ki-67 labeling index. High Ki-67 labeling index (≥50%) and p53 expression (≥50%) were seen in 27.1% and 18.6% of CCCs, respectively, but there was no clinicopathologic and prognostic significance. On the basis of the fact that the expression of Emi1 in CCC was correlated with a high histologic grade and worse overall survival, target therapy using inhibitors of Emi1 may be tried in the management of CCC patients with Emi1 expression.

Cystic hypersecretory ductal carcinoma of the breast: a rare cause of cystic breast mass.

We present the case of a surgically confirmed, invasive, cystic hypersecretory ductal carcinoma (CHDC) of the breast in a 43-year-old woman. The initial sonography showed a complex cyst, which required a core biopsy; however, the diagnosis was delayed as the patient refused to undergo the biopsy and the cyst decreased in size, as seen on follow-up sonography. Excision biopsy was performed, and invasive CHDC was diagnosed after regrowth of the cystic lesion. Meticulous sonographic evaluation of a cystic breast mass is always important, and pathology confirmation must be considered if the lesion shows features suspicious for malignancy, as a CHDC could be the cause of a cystic breast mass.

Primary acinic cell carcinoma of the breast: a case report with an immunohistochemical and ultrastructural studies.

Acinic cell carcinoma (ACC) of the breast is extremely rare and is characterized by widespread acinar cell-like differentiation. We report of a 39-year-old woman presented with a palpable breast mass with significant morphological, immunohistochemical and ultrastructural findings. Histologically, ACC showed a diffuse glandular infiltrative pattern, with small acinar or glandular structures mixed with solid nests. Neoplastic cells were monotonous proliferation of cells with a granular or clear cytoplasm, resembling acinar cells of the salivary glands or Paneth cells. Both glandular and solid tumor cell populations were strongly positive for lysozyme and α-1-antitrypsin.

Rapidly growing bilateral pseudoangiomatous stromal hyperplasia of the breast.

A tumoral pseudoangiomatous stromal hyperplasia (PASH) that causes huge breast enlargement is very rare. Only two cases of huge tumoral PASHs have been reported in the English medical literature. We report here on a surgically confirmed case of bilateral huge tumoral PASH in a 47-year-old woman, and we present the imaging and histopathology findings. We also review the relevant medical literature.

Primary cutaneous Ewing's sarcoma/primitive neuroectodermal tumor manifesting numerous small and huge ulcerated masses: its complete remission by chemotherapy and magnetic resonance imaging findings.

Extraskeletal Ewing's sarcoma (ES) and primitive neuroectodermal tumor (PNET) are widely regarded as clinically and histologically identical tumors which consist of small blue round cells. Extraskeletal ESs/PNETs usually occur in the deep soft tissues of the paraspinal region, chest wall, or lower extremities. However, superficially located cases, so-called cutaneous ESs/PNETs, are exceedingly rare, and the vast majority of the reported cases present as a single small mass. We present magnetic resonance imaging (MRI) findings and clinical course of a unique case of primary cutaneous ES/PNET presenting as numerous huge masses with severe ulceration on them.

The increased expression of matrix metalloproteinases associated with elastin degradation and fibrosis of the ligamentum flavum in patients with lumbar spinal stenosis.

BACKGROUND: One of the characteristics of spinal stenosis is elastin degradation and fibrosis of the extracellular matrix of the ligamentum flavum. However, there have been no investigations to determine which biochemical factors cause these histologic changes. So we performed the current study to investigate the hypothesis that matrix metalloproteinases (MMPs), which possess the ability to cause extracellular matrix remodeling, may play a role as a mediator for this malady in the ligamentum flavum. METHODS: The ligamentum flavum specimens were surgically obtained from thirty patients with spinal stenosis, as well as from 30 control patients with a disc herniation. The extents of ligamentum flavum elastin degradation and fibrosis were graded (grade 0-4) with performing hematoxylin-eosin staining and Masson's trichrome staining, respectively. The localization of MMP-2 (gelatinase), MMP-3 (stromelysin) and MMP-13 (collagenase) within the ligamentum flavum tissue was determined by immunohistochemistry. The expressions of the active forms of MMP-2, MMP-3 and MMP-13 were determined by western blot analysis, and the blots were quantified using an imaging densitometer. The histologic and biochemical results were compared between the two conditions. RESULTS: Elastin degradation and fibrosis of the ligamentum flavum were significantly more severe in the spinal stenosis samples than that in the disc herniation samples (3.14 +/- 0.50 vs. 0.55 +/- 0.60, p < 0.001; 3.10 +/- 0.57 vs. 0.76 +/- 0.52, p < 0.001, respectively). The expressions of the active form of MMPs were identified in all the ligamentum flavums of the spinal stenosis and disc herniation patients. The expressions of active MMP-2 and MMP-13 were significantly higher in the spinal stenosis samples than that in the disc herniation samples (both p < 0.05). The expression of active MMP-3 was slightly higher in the spinal stenosis samples than that in the disc herniation samples, but the difference was not statistically significant (p = 0.131). MMP-2, -3, and -13 were positively stained on the ligamentum flavum fibroblasts. CONCLUSIONS: The current results suggest that the increased expression of active MMPs by the ligamentum flavum fibroblasts might be related to the elastin degradation and fibrosis of the ligamentum flavum in the patients who suffer with lumbar spinal stenosis.

Small bowel volvulus induced by mesenteric lymphangioma in an adult: a case report.

Mesenteric lymphangiomas are rare abdominal masses that are seldom associated with small bowel volvulus, and especially in adult patients. We report here on an unusual case of small bowel volvulus that was induced by a mesenteric lymphangioma in a 43-year-old man who suffered from repeated bouts of abdominal pain. At multidetector CT, we noticed whirling of the cystic mesenteric mass and the adjacent small bowel around the superior mesenteric artery. Small bowel volvulus induced by the rotation of the mesenteric lymphangioma was found on exploratory laparotomy. Lymphangioma should be considered as a rare cause of small bowel volvulus in adult patients.

Chromomycosis presenting as soft-tissue mass: report of a case with MRI features.

Chromomycosis is primarily a skin disease that superficially presents as slowly growing, verrucous lesions, often warty or cauliflower-like in appearance. It may occasionally create a flat, plaque-like lesion in the skin but deep-seated tumorous presentation has not previously been reported. As the lesion is limited to the cutaneous and superficial subcutaneous tissues, hitherto reported cases have been described from the view point of dermatology and, so, without MRI study. We report a patient with pathologically proven chromomycosis that produced a subcutaneous mass in the dorsum of the hand with an emphasis on MRI features.

Comparison of the 13C-urea breath test and the endoscopic phenol red mucosal pH test in the quantification of Helicobacter pylori infection loading.

BACKGROUND/AIMS: The (13)C-urea breath test (UBT) is a semiquantitative test for measuring Helicobacter pylori infection loading. H. pylori produces ammonia, which elevates the pH of the gastric mucosa and is detectable via endoscopy using a phenol red indicator. We evaluated whether this test could be used to diagnose H. pylori infection and whether phenol red staining was correlated with (13)C-UBT results. METHODS: One hundred and twenty-three patients participated. The UBT was performed after ingestion of a capsule containing urea. A change in (13)C-UBT >2 ppt was selected as the cutoff value for diagnosing infection. After spraying evenly with a 0.1% phenol red solution, the pH of the gastric mucosal surface was measured using an antimony electrode through the biopsy channel. RESULTS: The pH of stained mucosa (6.9+/-0.4) was significantly higher than that of unstained mucosa (1.9+/-0.8; p<0.001), and the H. pylori detection rate confirmed via histology was higher in stained versus unstained mucosa (p<0.01). Extensive mucosal staining resulted in a higher detection rate (p<0.001). The UBT produced results were very similar to those obtained via histological detection in stained mucosa (p<0.001). The extent of staining, expressed as a staining score, was positively correlated with the change in (13)C-UBT (r=0.426, p<0.001). A significant correlation was also observed between the histologically determined H. pylori density and (13)C-UBT results (r=0.674, p<0.001). CONCLUSIONS: H. pylori infection elevates gastric mucosal surface pH, and endoscopic phenol red staining may be an alternative method for the diagnosis of H. pylori infection.

Primary papillary serous carcinoma of the peritoneum diagnosed by video-assisted thoracoscopic surgery: report of a case.

A 53-year-old woman who had end-stage renal disease and hypertension presented with back pain. Chest radiographs and chest computed tomography (CT) showed right pleural effusion with bilateral pleural masses. The patient underwent video-assisted thoracoscopic surgery (VATS) for a biopsy of the right pleural mass and for an evaluation of pleural effusion. A frozen section specimen suggested a papillary adenocarcinoma, which was confirmed to be metastatic primary papillary serous carcinoma of the peritoneum by immunohistochemistry, an elevated serum cancer antigen (CA-125) level, and abdominal CT findings. We found that the patient had been unfortunately misdiagnosed to have advanced colon cancer 11 years previously and thus had undergone a right hemicolectomy which was followed by six cycles of 5-fluorouracil chemotherapy. Despite this, she survived more than 10 years and was later correctly diagnosed by VATS of the pleural lesions and based on a review of the previous pathology. The patient was transferred to an oncologist to receive the proper chemotherapy with paclitaxel and carboplatin.