Rare thymopharyngeal duct cyst presentation in an adult patient.

Retained thymic tissue may occur anywhere along the path of descent of the thymus. Cervical thymic cysts are a rare cause of benign neck masses. Thymopharyngeal duct cysts are thymic cysts that span the length of the neck and extend towards the mediastinum. These lesions are rare and classically have been described in paediatric patients. Here, we present the case of a 23-year-old woman with a left-sided neck mass, which was found to be a thymopharyngeal duct cyst. Multiple analytic modalities including the clinical presentation, imaging, operative findings and histology were required to confirm the diagnosis and are discussed below.

A Retrospective Analysis of the Trends in Acute Appendicitis During the COVID-19 Pandemic.

Background: The corona virus disease of 2019 (COVID-19) imposed new public health constraints that deterred people from coming to the hospital. The outcome of patients who developed appendicitis during mandated COVID-19 quarantine has yet to be examined. The main objective was to establish whether there was an increased rate of perforated appendicitis seen during COVID-19 quarantine. Secondary objectives included observing the type of procedure performed, length of stay, and associated complications. Materials and Methods: This retrospective analysis was designed to look at the rates of appendicitis and perforated appendicitis observed during mandatory "safer at home order" from March to May 2020. The same time period a year earlier was used for comparative analysis. The study utilized data gathered from a single health care system, which consisted of a large regional referral center with three emergency rooms (ERs). Patients were included in the study if they presented to any ER in our health care system with a chief complaint of acute appendicitis. Perforated appendicitis was determined either radiographically or intraoperatively. Interventions included surgery, percutaneous drainage, or medical management. Results: There were 107 patients who were included. During quarantine, a total of 48 patients presented with acute appendicitis, with 16 perforations, compared with the previous year where 59 patients presented with acute appendicitis, with 10 perforations (33% versus 17% P = .04). Most patients underwent laparoscopic appendectomy (91%, n = 98), six patients (6%) were managed with intravenous antibiotics and 3 patients (3%) with percutaneous drainage. Patients who perforated had a longer duration of symptoms (2 versus 1, P = .03), white blood cell count (13,190 versus 15,960 cells/mm3, P = .09), and longer operative time (72 versus 89 minutes, P = .01). Patients who perforated had an increased length of stay and rate of complication. Conclusion: There was an overall increased rate of perforated appendicitis seen during quarantine compared with the previous year. Patients with perforated appendicitis had an increased length of stay, longer operative time, and increased rate of complications. Thus, although people were staying home due to public health safety orders, it negatively impacted those who developed appendicitis who may have presented to the hospital otherwise sooner.

Case of aggressive metastatic follicular variant papillary thyroid carcinoma with BRAF K601E and BCORL1 mutations.

BCL6 corepressor like-1 (BCORL1) mutation has rarely been described in thyroid cancer or in association with BRAF mutations in any malignancy. However, we report a 49-year-old woman who had aggressive follicular variant papillary thyroid carcinoma (FV-PTC) with both the BRAF K601E and BCORL1 mutations. The patient underwent a total thyroidectomy for a 3.6 cm right thyroid nodule and a smaller lesion in the left lobe in 2007; both were FV-PTCs with no lymphovascular invasion or metastases. In 2015, a positron emission tomography-CT scan showed a small defect in the left posterior lateral fifth rib with mild increased hypermetabolic activity with standardised uptake value of 3.9 and another lesion in the right hip at the junction of the femoral neck and trochanter. Tumour biopsy and genetic analysis revealed an uncommon BRAF K601E and a rare BCORL1 mutation. While rare, we report a case of aggressive FV-PTC with both the BRAF K601E and BCORL1 mutations.

Malignant transformation in a Breast Adenomyoepithelioma Caused by Amplification of c-MYC: A Common pathway to Cancer in a Rare Entity.

Breast adenomyoepitheliomas are composed of a biphasic proliferation of myoepithelial cells around small epithelial-lined spaces. Due to the rarity of adenomyoepitheliomas, the molecular data describing them are limited. Adenomyoepitheliomas are considered to be benign or have low malignant potential, and be prone to local recurrence. Malignant transformation has been associated with homozygous deletion of CDKN2A or somatic mutations in TERT, but remains unexplained in many cases. Here, we describe a case of carcinomatous transformation of both epithelial and myoepithelial cells in an estrogen receptor-negative adenomyoepithelioma caused by amplification of MYC. Break-apart fluorescence in situ hybridization revealed an increase in the MYC gene copy number (3-4 copies/cell in 37%, > 4 copies/cell in 40%). Deregulation of MYC is responsible for uncontrolled proliferation and cellular immortalization in basal-like breast cancers. Our case demonstrates that genomic instability events associated with gene amplification may be involved in the carcinogenesis of malignant adenomyoepitheliomas.

Primary sebaceous carcinoma of the male breast: Case report and review of literature.

Primary sebaceous carcinoma of the breast is an exceedingly uncommon neoplasm that is defined as primary invasive carcinoma of the breast with sebaceous differentiation in more than 50% of cells. All confirmed cases have been reported in women. Herein, we report the case of a 70-year-old man with a primary sebaceous breast carcinoma, the first unequivocal case to be reported thus far in a man.

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.

Intrathyroidal Clear Cell Tumor of Parathyroid Origin with Review of Literature.

Water-clear cell adenoma (WCCA) of the parathyroid gland is an exceedingly rare neoplasm. To date, 17 cases have been reported in the literature, with only one of them being intrathyroidal. Here we report a case of a 34-year-old woman who presented for evaluation of a goiter and was found to have a thyroid nodule and abnormal thyroid function tests (TFT). Fine needle aspiration biopsy of the nodule revealed thyroid follicular cells without atypia and subsequent Afirma® Gene Expression Classifier (GEC) testing results were suspicious for malignancy. As a result, the patient underwent a right thyroid lobectomy and isthmusectomy. Histological sections revealed an intrathyroidal nodule consistent with a clear cell neoplasm of parathyroid origin. The histologic appearance together with the immune profile was diagnostic of WCCA, with diffuse positivity for GATA3, focal weak positivity for parathyroid hormone, and negativity for PAX8, thyroglobulin, TTF1, synaptophysin, chromogranin, and S100p. Our study focuses on the clinical presentation, current management strategies, and review of the available literature surrounding this rare diagnosis. The ultimate goal is to help endocrinologists and surgeons establish a foundational treatment plan for intrathyroidal clear cell tumor cases.

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.

Significance of periductal lymphatic and blood vascular densities in intraductal carcinoma of the breast.

We investigated the significance of periductal lymphatic and blood vascular densities in intraductal carcinomas (IDC) of the breast. Thirty five cases of pure IDC treated by partial or total mastectomy were reviewed. Seven cases with normal breast tissue and 48 cases of invasive breast carcinoma were included as controls. All cases were immunostained with D2-40 and CD31. Positively stained microvessels were counted in densely vascular/lymphatic foci (hot spots) at 400x (=0.17 mm(2)) in the periductal areas. IDC without comedonecrosis showed a mean periductal D2-40 lymphatic microvessel density (LMD) of 5.8 +/- 5 (range 0-18), and a CD31 microvessel density (MD) of 14 +/- 8.9 (range 1-40). IDC with comedonecrosis showed periductal D2-40 LMD of 8.4 +/- 3.8 (range 4-18), and a CD31 MD of 24.3 +/- 7.6 (range 14-40). There was a significant difference between periductal D2-40 LMD and CD31 MD counts in IDC with and without comedonecrosis. There was a positive correlation of periductal D2-40 LMD and CD31 MD counts with high nuclear grade (r = 0.39 and 0.56) of IDC as well as with the presence of comedonecrosis (r = 0.49 and 0.59). Both D2-40 LMD and CD31 MD did not correlate significantly with tumor size, estrogen status, or progesterone status. As IDC with comedonecrosis and/or high nuclear grade has a worse prognosis than IDC without comedonecrosis and/or with low nuclear grade, it appears that lymphatic and blood vascular density evaluated by D2-40 and CD31, respectively, are independent prognostic indicators for patients with IDC of the breast and may be an indicator of early or unrecognized invasion or "regression."

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.

Prognostic significance of intratumoral and peritumoral lymphatic density and blood vessel density in invasive breast carcinomas.

We studied tumor lymphatic and vascular densities and lymphovascular invasion (LVI) as prognostic markers in 48 cases of invasive breast cancer treated with partial or total mastectomy and lymph node dissection. All cases were immunostained with D2-40 and CD31. Positively stained microvessels were counted in densely vascular/lymphatic foci (hot spots) at x400. The mean+/-SD peritumoral lymphatic microvessel density (LMD) was significantly higher than intratumoral LMD (9+/-7 vs 4+/-6; P< .01). There was a positive correlation of D2-40 LMD (peritumoral and intratumoral) and CD31 microvessel density counts with lymph node metastasis (r=0.35, 0.5, and 0.38), nuclear grade (r=0.36, 0.28, and 0.3), and stage (r=0.42, 0.56, and 0.49), respectively. Peritumoral and intratumoral D2-40 LMD correlated significantly with the presence of angiolymphatic invasion (detected by D2-40; r=0.54 and 0.54, respectively). D2-40 detected more LVI than H&E- and CD31-detectable vascular invasion (18/48, 5/48, 11/48, respectively). Increased D2-40 detected LVI, and high CD31 microvessel counts showed significant adverse effect on survival status.

Complete remission of previously intractable peripheral cutaneous T-cell lymphoma of the lower extremity using isolated hyperthermic limb perfusion with melphalan (1-phenylalanine mustard).

The patient is a 74-year-old woman first diagnosed with a peripheral cutaneous T-cell lymphoma (PCTCL) in April of 1994. Initially she presented with subcutaneous indurated areas in the right forearm, scapula, and submadibular region. After chemotherapy with CHOP (cyclophosphamide, doxorubicin, vincristine, and prednisone), she went into remission for 2 years before relapse of her PCTCL localized to the right lower extremity. Persistent isolated disease in the extremity since then led to numerous chemotherapy regimens and localized radiation therapy. Due to dramatic limb threatening progression of the disease in 2001, she underwent isolated hyperthermic limb perfusion with melphalan (1-phenylalanine mustard). Although limb preservation could not be achieved, this treatment resulted in complete clinical and pathological regression of the lesions of the perfused extremity.

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.

Chronic sclerosing sialadenitis (Kuttner's tumor): unusual presentation with bilateral involvement of major and minor salivary glands.

In 1896 Kuttner reported four cases which he described as induration of the submandibular gland. Histologically, they showed chronic inflammation and fibrosis. Sporadic cases of this entity that have come to be known as Kuttner's tumor or chronic sclerosing sialadenitis of the submandibular gland and have been reported throughout the 20th century. This inflammatory tumor has been under-recognized, and awareness of its importance and probable immunologic background have recently become evident. We report an unusual case of chronic sclerosing sialadenitis, affecting both parotid glands, both submandibular glands, and minor salivary glands of the oral cavity, and explore the immunohistochemical profile of this entity.

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.