PIK3R1, HRAS and AR Gene Alterations Associated with Sclerosing Polycystic Adenoma of the Parotid Gland.

Sclerosing polycystic adenoma (SPA) is a rare neoplasm occurring in the salivary glands, mainly the parotid gland. Although it was originally thought to represent a non-neoplastic process, recent genetic data have proven its monoclonality, supporting its neoplastic origin. We report a case of a 73-year-old woman who presented with left neck swelling and pain. A 3 cm hypoechoic, heterogeneous, solid mass was identified on neck ultrasonography within the left parotid gland. Fine needle aspiration revealed benign acinar cells and lymphocytes. Left partial superficial parotidectomy was performed and a diagnosis of SPA was made. Targeted next-generation sequencing (NGS) revealed three clinically significant alterations in the PIK3R1, HRAS, and AR genes. Alterations in the PIK3R1 gene have been previously reported in cases of SPA; however, this study is the first to report two novel clinically significant genomic alterations in the HRAS and AR genes. AR protein expression by immunohistochemistry was strongly and diffusely positive in the neoplastic epithelial cells compared to the adjacent normal salivary gland tissue, which was dead negative for AR. This molecular profile will enhance our understanding of the molecular pathways underlying the development of this tumor. Although this entity was initially thought to be a reactive process, evidence from our case and similar cases strongly support the notion that it is neoplastic due to the presence of specific genetic alterations linked to it.

Parathyroid hemangioma.

BACKGROUND: Hemangiomas are benign neoplasms of capillary proliferation that arise from a developmental anomaly where angioblastic mesenchyme fails to form canals. Most hemangiomas arise in the head and neck region, either superficially in the skin or deeper within endocrine organs such as the parotid gland. Parathyroid hemangiomas, however, are extremely rare, with only five cases previously reported in the literature. CASE PRESENTATION: Herein, we present a case of a 68-year-old man with a hemangioma almost completely replacing the right upper parathyroid gland, grossly measuring 1.3 × 1.3 × 1.2 cm and weighing 700 mg, associated with primary hyperparathyroidism. CONCLUSIONS: Parathyroid gland enlargement due to vascular neoplasms such as hemangiomas can mimic, both clinically and radiographically, hyperplasias and/or adenomas. Surgeons need to be aware of the presence of this entity and should consider it in the differential diagnosis of hyperparathyroidism or parathyroid gland enlargement.

Parathyroid hemangioma

Background Hemangiomas are benign neoplasms of capillary proliferation that arise from a developmental anomaly where angioblastic mesenchyme fails to form canals. Most hemangiomas arise in the head and neck region, either superficially in the skin or deeper within endocrine organs such as the parotid gland. Parathyroid hemangiomas, however, are extremely rare, with only five cases previously reported in the literature. Case presentation Herein, we present a case of a 68-year-old man with a hemangioma almost completely replacing the right upper parathyroid gland, grossly measuring 1.3 × 1.3 × 1.2 cm and weighing 700 mg, associated with primary hyperparathyroidism. Conclusions Parathyroid gland enlargement due to vascular neoplasms such as hemangiomas can mimic, both clinically and radiographically, hyperplasias and/or adenomas. Surgeons need to be aware of the presence of this entity and should consider it in the differential diagnosis of hyperparathyroidism or parathyroid gland enlargement.

Adenoid cystic carcinoma of the breast, 20 years of experience in a single center with review of literature.

BACKGROUND: Adenoid cystic carcinoma (ACC) of the breast is a rare type of breast cancer, which presents inconsistencies in the optimal management strategy. METHODS: A retrospective review of prospectively collected data, spanning the last 20 years, was performed using the cancer registry database at our institution. RESULTS: Six patients were diagnosed with ACC of the breast, out of 5,813 total patients diagnosed with breast cancer (0.1%). Our identified patients had a median age of 66, all with the early stage cancer (Stage I/II). The average size of the breast lesion was 1.62 cm, and nodal status was negative for all cases. All patients had resection as primary therapy (partial or total mastectomy), with one patient also undergoing external beam radiation and tamoxifen hormonal therapy. Median follow-up was 85 months, with all patients being disease-free at last follow-up. CONCLUSIONS: ACC of the breast has an indolent course, despite triple negative status. Our study suggests that radiation may not be warranted and confirms the rarity of axillary node metastases, indicating that sentinel node excision may also not be necessary. Ultimately, the hope is that our findings along with the reviewed literature will aid in determining the most appropriate options for management of ACC of the breast.

Are general surgery residents ready to practice? A survey of the American College of Surgeons Board of Governors and Young Fellows Association.

BACKGROUND: General surgery residency training has changed with adoption of the 80-hour work week, patient expectations, and the malpractice environment, resulting in decreased resident autonomy during the chief resident year. There is considerable concern that graduating residents are not prepared for independent surgical practice. STUDY DESIGN: Two online surveys were developed, one for "young surgeons" (American College of Surgeons [ACS] Fellows 45 years of age and younger) and one for "older surgeons" (ACS Fellows older than 45 years of age). The surveys were distributed by email to 2,939 young and 9,800 older surgeons. The last question was open-ended with a request to provide comments. A qualitative and quantitative analysis of all comments was performed. RESULTS: The response rate was 9.6% (282 of 2,939) of young and 10% (978 of 9,800) of older surgeons. The majority of young surgeons (94% [58.7% strongly agree, 34.9% agree]) stated they had adequate surgical training and were prepared for transition to the surgery attending role (91% [49.6% strongly agree, 41.1% agree]). In contrast, considerably fewer older surgeons believed that there was adequate surgical training (59% [18.7% strongly agree, 40.2% agree]) or adequate preparation for transition to the surgery attending role (53% [16.93% strongly agree, 36.13% agree]). The 2 groups' responses were significantly different, chi-square test of association (3) = 15.73, p = 0.0012. Older surgeons focused considerably more on residency issues (60% vs 42%, respectively), and young surgeons focused considerably more on business and practice issues (30% vs 14%, respectively). CONCLUSIONS: Young and older surgeons' perceptions of general surgery residents' readiness to practice independently after completion of general surgery residency differ significantly. Future work should focus on determination of specific efforts to improve the transition to independent surgery practice for the general surgery resident.

Primary breast lymphoma: 30 years of experience with diagnosis and treatment at a single medical center.

In our retrospective study covering the past 30 years at a tertiary cancer care institution, we review 30 patients with primary breast lymphoma (stage I or II) and analyze the different treatment modalities. All 30 patients had unilateral disease, and the median age was 67.5 years. Two patients refused treatment and, hence, were excluded from our study. Of the 28 remaining patients, 11 (39%) were treated with a single treatment modality, and 17 (61%) underwent different combinations of surgery, radiation therapy, and chemotherapy. Seventeen patients underwent a surgical resection as the primary modality or as part of a multimodality therapy. Seven patients (25%) experienced a local or distal recurrence of the disease. Of these 7 patients, 6 underwent surgery as the primary treatment or as part of a combined treatment modality, and 1 underwent radiation therapy only. Eighteen patients (64%) died during the follow-up period ranging from 6 to 230 months, but only 5 of these 18 patients (28% [18% of all patients]) died of disease-specific causes. Of the 2 patients who were only treated with chemotherapy, 1 had primary breast lymphoma that never went into remission. In our study, surgery as the primary modality therapy or as part of a multimodality therapy for primary breast lymphoma is associated with a higher rate of treatment failure, whereas a combination of chemotherapy and local radiation therapy provides the best results. However, because our sample size is small, for such a rare neoplasm, definitive treatment recommendations are difficult to determine.

Validation of the sentinel lymph node biopsy technique in head and neck cancers of the oral cavity.

The purpose of this study was to present our experience and validate the use of sentinel lymph node (SLN) mapping in patients with head and neck cancers. A retrospective review of a prospectively collected database of patients with a diagnosis of squamous cell carcinomas of the head and neck from 2008 to 2011 was done. The group consisted of a total of 20 patients. The first node(s) highlighted with blue, or identified as radioactive by Tc99-sulfur radioactive colloid, was (were) identified as the SLNs. In the first seven patients, formal modified neck dissection was performed. In the remaining 13 patients, only a SLN biopsy procedure was done. At least one SLN was identified in all 20 patients (100%). Only one patient (5%) had positive nodes. In this case, the SLN was also positive. In the remaining 19 cases, all lymph nodes were negative. After an average of 24 months of follow-up, there have been three local recurrences (15%) but no evidence of distant metastatic disease. SLN mapping in head and neck cancers is a feasible technique with a high identification rate and a low false-negative rate. Although the detection rate of regional metastatic disease compares favorably with published data as well as the disease-free and overall survival, further studies are warranted before considering this technique to be the "gold standard" in patients with oral squamous cell carcinoma and a negative neck by clinical examination and imaging studies.

Age, tumor size, and in-office ultrasonography are predictive parameters of malignancy in follicular neoplasms of the thyroid.

OBJECTIVE: To identify clinical predictors of malignancy in patients with intraoperative frozen-section diagnosis of follicular neoplasm of the thyroid. METHODS: We performed a retrospective cross-sectional study of 71 patients with intraoperative frozen-section diagnosis of follicular neoplasm who underwent thyroidectomy between January 1992 and December 2000. Age, sex, tumor size, and in-office ultrasonography characteristics of the lesions were assessed. These clinical factors were compared between cases that had benign definitive pathologic findings and those that were found to be carcinomas on permanent sections. RESULTS: Nine (13%) of the 71 follicular neoplasms were found to be carcinomas after definitive pathologic evaluation. The incidence of malignancy was 13% (2/16) in men and 13% (7/55) in women (P>.5). Patients younger than 45 years had a 27% (8/30) incidence of malignancy compared with 2% (1/41) in patients 45 years or older (P<.01). Of tumors smaller than 4 cm, 7% (4/55) were ultimately diagnosed as carcinomas compared with 31% (5/16) of those 4 cm or larger (P = .05). When the in-office ultrasonography findings were interpreted as benign, only 7% (3/46) of cases were malignant compared with 40% (4/10) when the ultrasonography findings were suspicious (P = .02). CONCLUSIONS: Age and tumor size are predictive parameters of malignancy in follicular neoplasm of the thyroid. Suspicious ultrasonography findings also have an important predictive role. Total thyroidectomy is reasonable in patients with follicular neoplasm on frozen section if they are young (<45 years old), with large (>4 cm) tumors or if there are suspicious findings on in-office ultrasonography.

A multidisciplinary approach for the treatment of GIST liver metastasis.

BACKGROUND: Advanced gastrointestinal stromal tumors (GISTs) can metastasize and recur after a long remission period, resulting in serious morbidity, mortality, and complex management issues. CASE PRESENTATION: A 67-year-old woman presented with epigastric fullness, mild jaundice and weight loss with a history of a bowel resection 7 years prior for a primary GIST of the small bowel. The finding of a heterogeneous mass 15.5 cm in diameter replacing most of the left lobe of the liver by ultrasonography and CT, followed by positive cytological studies revealed a metastatic GIST. Perioperative optimization of the patient's nutritional status along with biliary drainage, and portal vein embolization were performed. Imatinib was successful in reducing the tumor size and facilitating surgical resection. CONCLUSION: A well-planned multidisciplinary approach should be part of the standard management of advanced or metastatic GIST.

Tubular carcinoma of the breast: an institutional experience and review of the literature.

Tubular carcinoma of the breast is a variant of invasive ductal carcinoma that is well differentiated and characterized by an orderly tubular formation. Although often perceived to have a better prognosis, there continues to be questions regarding the extent of treatment required. A retrospective review of 44 patients diagnosed with tubular carcinoma of the breast from 1987 to 1999 was performed. All documented data regarding patient and tumor characteristics plus the extent of treatment were analyzed and compared. Lymph node metastases were present in 4 of 32 patients (13%) who had nodes examined. Tumor size correlated with axillary status, with tumors less than 15 mm having no axillary nodal involvement. No other factor influenced nodal status. In breast conservation patients without adjuvant radiation, 5% (1 of 20) had local recurrence versus 0% (0 of 13) of patients who received postoperative radiation. Ductal carcinoma in situ (DCIS) was associated with 52% of tubular cancers. Second breast cancers developed in 16% of cases. There was no difference in presentation or outcome for pure versus mixed tubular carcinoma. Overall mortality was 2%. Overall survival for patients with tubular carcinoma is quite good. Breast conservation treatment results in low rates of local recurrence for tubular carcinoma with or without the use of adjuvant radiation therapy. Pure tubular carcinomas had the same behavior and overall prognosis as mixed tubular carcinomas and should be classified together. Lymph node status did not influence disease-free or overall survival.

Validation of sentinel node mapping in patients with colon cancer.

BACKGROUND: Sentinel lymph node (SLN) mapping techniques have been validated in breast cancer and melanoma. This study summarizes our experience with SLN mapping for colon cancer. METHODS: Fifty-five patients with colon cancer underwent intraoperative SLN mapping. One mL of 1% isosulfan blue was injected subserosally around the tumor. The first nodes highlighted with blue were identified as the SLNs. SLNs underwent multiple sectioning and immunohistochemical staining for cytokeratin. The overall learning curve was calculated. RESULTS: Lymphatic mapping adequately identified at least 1 SLN in 45 patients (82%). SLNs adequately predicted regional status in 44 of 45 (98%) cases. In 9 of 45 cases (20%), the SLNs were the only sites of metastases. Among the 14 cases that were SLN positive, 6 of 55 patients (11%) were positive only by immunohistochemistry. Of the 31 cases with negative SLNs, 1 case had a 3.5-mm pericolonic tumor-replaced non-SLN (3% false-negative rate). The overall learning curve stabilized after five cases. CONCLUSIONS: Intraoperative SLN mapping is a feasible technique, with a quick learning curve, and had a reasonable SLN identification rate. Negative SLNs accurately predict the status of non-SLNs 97% of the time. Eleven percent of patients were upstaged by demonstration of micrometastases and may benefit from adjuvant chemotherapy.

Pure mucinous carcinoma of the breast: is axillary staging necessary?

BACKGROUND: Mucinous carcinoma of the breast (MCB) may be associated with a low risk of axillary metastases. METHODS: To evaluate the incidence of axillary nodal metastasis in MCB, a review of all cases from January 1990 to July 2000 was performed. Pure MCB was defined as all tumor cells being completely surrounded by mucin. Patient demographics, tumor size, estrogen receptor status, total number of dissected lymph nodes, and incidence of nodal metastasis were studied. Deeper sections on the lymph nodes from the pure tumors were performed and stained with low-molecular cytokeratin. RESULTS: Nineteen cases of pure MCB and 41 cases of mixed MCB were identified. Patients with pure MCB were older than those with mixed MCB. Tumor size and estrogen receptor status showed no statistically significant differences between the two groups. None of the patients with pure MCB demonstrated lymph node metastases, whereas 12 of 41 cases with mixed MCB demonstrated metastatic lymph node involvement. CONCLUSIONS: Because pure MCB seems unlikely to metastasize, axillary lymph node staging in these patients may not be necessary. The presence of lymph node metastases strongly indicates the presence of a mixed MCB.

Intraoperative Ultrasound-Guided Excision of Nonpalpable Breast Lesions.

In order to determine if intraoperative ultrasound (US)-guided excision is a feasible procedure, we prospectively studied 15 female patients between July 1996 and December 1998 for US-detected nonpalpable breast lesions. Intraoperative US was used by the operating surgeon to identify the lesion, guide its excision, and evaluate the specimen to document complete removal. A control group of 15 female patients with mammographically detected nonpalpable lesions was used for comparison. These patients underwent preoperative needle localization, excision of the lesions, and specimen radiographs. Age, size of the lesion, total excised tissue volume, and operative time were documented in all cases. Fifteen patients aged 20-83 years (mean 51) underwent US-guided excision, which adequately localized all lesions, and excision was successful in all patients. Specimen US documented the lesion in all cases. Lesion size ranged from 0.7 to 2 cm (mean 1.1) and the total excised tissue volume averaged 30 cc. Mean operative time was 53 minutes (range 30-75 minutes). The 15 patients of the control group ranged in age from 32 to 82 years (mean 61). Excision was successful in all cases. Lesion size ranged from 1 to 2.5 cm (average 1.5) and the average excised tissue volume was 35 cc. Mean operative time was 50 minutes (range 30-75 minutes). There were no statistically significant differences between the two groups with regard to age (p = 0.2), operative time (p = 0.5), and total excised tissue volume (p = 0.5). The size of the lesions did have a statistically significant difference (p = 0.01). There were no perioperative complications. In conclusion, US-guided excision of nonpalpable breast lesions is a feasible and effective technique. US documents results immediately, is of minimal discomfort to the patient, avoids the need for preoperative localization, allows the entire procedure to be performed in the operating room, does not require radiation, and provides the surgeon with a useful alternative in selected cases.