Mastectomies result in very high local control rates for pure ductal carcinoma in situ; however, close or involved tumor margins are occasionally encountered. Data regarding the patterns of relapse ...in this setting are limited.
Between 1994 and 2002, the pathology reports of 574 patients who had undergone mastectomy at our institution for pure ductal carcinoma in situ were retrospectively reviewed. Of the 574 patients, 84 were found to have margins of <10 mm. Of the 84 patients, 4 underwent postoperative radiotherapy and were excluded, leaving 80 patients for this analysis. Of the 80 patients, 31 had margins <2 mm and 49 had margins of 2.1-10 mm. High-grade disease was observed in 47 patients; 45 patients had comedonecrosis; and 30 had multifocal disease. Of the 80 patients, 51 were <60 years of age.
With a median follow-up of 61 months, 6 (7.5%) of the 80 patients developed local recurrence. Of the 31 patients with a margin of <or=2 mm, 5 (16%) developed local recurrence vs. only 1 (2%) of 49 patients with a margin of 2.1-10 mm (p = 0.0356). Of the 6 patients with local recurrence, 5 had high-grade disease and/or comedonecrosis. All six recurrences were noted in patients <60 years old.
The findings of this review suggest that patients with pure ductal carcinoma in situ who undergo mastectomy with a margin of <2 mm have a greater-than-expected incidence of local recurrence. Patients with additional unfavorable features such as high-grade disease, comedonecrosis, and age <60 years are particularly at risk of local recurrence. These patients might benefit from postmastectomy radiotherapy.
Advances over the past decade have indicated that a complex interplay between environmental factors, genetic predisposition, alcohol abuse, and smoking lead towards the development of chronic ...pancreatitis. Chronic pancreatitis is a complex disorder that causes significant and chronic incapacity in patients and a substantial burden on the society. Major advances have been made in the etiology and pathogenesis of this disease and the role of genetic predisposition is increasingly coming to the fore. Advances in noninvasive diagnostic modalities now allow for better diagnosis of chronic pancreatitis at an early stage of the disease. The impact of these advances on surgical treatment is beginning to emerge, for example, patients with certain genetic predispositions may be better treated with total pancreatectomy versus lesser procedures. Considerable controversy remains with respect to the surgical management of chronic pancreatitis. Modern understanding of the neurobiology of pain in chronic pancreatitis suggests that a window of opportunity exists for effective treatment of the intractable pain after which central sensitization can lead to an irreversible pain syndrome in patients with chronic pancreatitis. Effective surgical procedures exist for chronic pancreatitis; however, the timing of surgery is unclear. For optimal treatment of patients with chronic pancreatitis, close collaboration between a multidisciplinary team including gastroenterologists, surgeons, and pain management physicians is needed.
Endometrial adenocarcinoma is the most common gynecologic malignancy in the United States. However, reliable diagnostic or prognostic tumor markers have not been identified for endometrial cancer. In ...this study, we examined whether urokinase plasminogen activator receptor (UPAR), a glycosyl-phosphatidylinositol-linked membrane protein, is a candidate diagnostic or prognostic marker for patients with cancer of the endometrium. Sixty-five surgically excised, formalin-fixed endometrial tissue specimens were accessioned through the Department of Pathology Registry at the University of California, Los Angeles, and analyzed for UPAR expression by using immunohistochemical techniques. A retrospective review was also performed to determine stage and histopathologic grade of disease, recurrence, and mortality. No expression of UPAR protein was present in seven patients with benign neoplasia of the endometrium. UPAR protein expression highly correlated with stage of disease (ungrouped Spearman correlation = 0.625, P < 0.0001): 40% of patients with stage I, 66% of patients with stage II, 100% of patients with stage III, and 85% with stage IV demonstrated the highest level of UPAR expression. Moreover, high UPAR expression positively correlated with grade of disease (ungrouped Spearman correlation = 0.71, P < 0.0001): 29% of grade 1 specimens, 57% of grade 2, and over 90% of specimens with grade 3, the majority representing uterine papillary serous carcinoma and mixed malignant mesodermal tumor. Finally, UPAR protein expression also positively correlated with rate of recurrence and mortality in patients with adenocarcinoma of the endometrium (ungrouped P = 0.034). Our data suggest that UPAR is a useful prognostic marker for biologically aggressive forms of endometrial cancer.
In humans, mutations in the testis-determining gene SRY result in XY sex reversal with pure gonadal dysgenesis (PGD). However, only about 10–15% of the cases of PGD can be explained by mutations ...within the SRY open reading frame, suggesting the existence of other sex-determining genes. Although SRY is known to bind and bend DNA, its target and mode of action remain elusive. Here, we describe a novel mutation in SRY at codon 127, resulting in a tyrosine (Y) to phenylalanine (F) substitution in the protein. This sequence variant was found not only in the XY female patient but also in her father, who is a phenotypically normal male. However, this Y127F variant was not found in the SRY sequences of 93 other randomly chosen males. This substitution affects a highly conserved tyrosine residue in the HMG box of SRY, in which two de novo mutations have been described previously in XY females with PGD. Furthermore, electromobility shift studies demonstrate that SRY protein harboring the Y127F variant is incapable of binding consensus SRY binding sites in vitro. Taken together, these data suggest that the Y127F variant is a novel mutation with functional consequences and not simply a polymorphism. The allelic variant of SRY transmitted in this family and shared by both a phenotypic female (proband) and a phenotypic male (proband’s father) emphasizes the importance of modifier genes in the sex determination pathway.
Peripheral nerve sheath tumors, known as perineuriomas, are typically found on the trunk and extremities. They are less commonly described in the gastrointestinal tract (GI), and extremely rarely are ...described in the stomach.
We present a case of a 2-cm gastric perineurioma in a 42-year-old patient with nonspecific GI complaints of chronic dyspepsia and epigastric discomfort. Esophagogastroduodenoscopy, followed by endoscopic ultrasound, revealed a 2-cm umbilicated lesion in the stomach, which was subsequently removed with endoscopic submucosal dissection and sent for pathology. Immunohistochemical staining revealed a rare entity known as a gastric perineurioma.
Since the first case of gastric perineurioma was first described in 2004, there have only been 4 reported cases in the English literature. This case highlights the crucial interdisciplinary multidisciplinary effort between pathologists and GI specialists required to reach this diagnosis and showcases endoscopic diagnosis using endoscopic dissection, which allows for complete lesion resection and complete resolution of the patient's symptoms.
Abstract Objective To investigate clinical outcomes of stage IA uterine papillary serous (UPSC) and clear cell carcinoma (CC) arising from or associated with a polyp. Methods From 1995 to 2011, we ...identified 51 cases of stage IA UPSC (67%), CC (8%) or mixed histology (26%) endometrial cancer. Of these, 32 had disease confined to polyp (seven with no residual disease after hysterectomy), 14 had surface spread, 1 had myometrial invasion (MMI) and 4 had both. The majority of patients did not receive adjuvant therapy (80%). Patients given adjuvant treatment (either platinum-based chemotherapy alone, radiation alone, or a combination of the two) had incomplete staging or abnormal cytology. Results At mean follow-up of 58.3 months, only 4 patients had progressed, via pelvic adenopathy, carcinomatosis or both. There were no vaginal cuff recurrences. Kaplan–Meier 5 year estimates were pelvic control of 92.1%, disease-free survival 93% and OS 80.6%. Only 9% (3/32) of cases confined to polyp progressed. One responded to salvage chemoradiation, but two died despite salvage. Only 5% (1/19) of cases with surface and MMI progressed. On univariate analysis, only MMI and abnormal/positive cytology were significantly associated with increased pelvic recurrence (MMI p = 0.0059, cytology p = 0.0036) and worse DFS (MMI p = 0.0018, cytology p = 0.0054). Two patients given adjuvant treatment developed new gynecologic malignancies. Conclusion In our study, patients with limited UPSC/CC disease involving a polyp who have complete workup did well without adjuvant therapy, with recurrence rates similar to UPSC/CC stage IA disease. Late and extensive pelvic relapses may occur in the few who do relapse.
Abstract Collision tumors are rare entities wherein 2 separate, distinct histologic malignant neoplasms occur in adjacent anatomic proximity. The 2 malignancies may originate from the same organ or ...occur as metastases from other sites. We present a case of a collision tumor of metastatic lung adenocarcinoma and papillary thyroid carcinoma occurring in the thyroid gland of a 63-year-old woman who presented with a multinodular central neck mass. After excision and histopathologic examination, this tumor was identified as a collision tumor. This is the first report of this unique combination of tumors occurring in the thyroid gland. This case report emphasizes the role of detailed histopathologic analysis and the use of immunohistochemistry in better identifying rare thyroid neoplasms.
Rosette-forming glioneuronal tumor (RGNT) of the fourth ventricle is a mixed glio-neuronal neoplasm recently codified by the World Health Organization
WHO Classification of Central Nervous System ...(CNS) Tumors
(2007). To date, 43 cases have been described in the literature; most occurring in the fourth ventricle region. We report the fourth case involving the pineal region in a 16-year-old female with signs of increased intracranial pressure (ICP). A stereotactic biopsy of the mass was followed by a debulking procedure. Both specimens revealed classic RGNT histology. The patient had stable scans 7 months post-resection. The clinical, radiological and histopathologic features of the previously described 43 cases are reviewed along with our illustrative case. Mean age of patients was 30 ± 12.8 years with 1.9:1 female to male ratio. The most common presenting signs related to increased ICP and posterior fossa involvement, including: headache (62.8%), ataxia (39.5%) and vomiting and vertigo (both 16.3%). This tumor usually presents with cystic changes (54.5%) with focal enhancement (60.9%) and hydrocephalus (43.2%). Microcalcifications and satellite lesions were common radiographic observations. All reported cases had the classic biphasic pattern. Rosenthal fibers and eosinophilic granular bodies are each present in approximately two thirds of cases. Ki-67 labeling index is consistently low (mean (%): 1.8 ± 0.75 SD). The isocitrate dehydrogenase 1 or 2 mutation found in low grade diffuse gliomas is not identified in this RGNT case. Reported outcome is nearly uniformly excellent after complete or subtotal resection. A solitary report of recurrence after 10 years and the limited experience with this entity suggest that long term follow up is advisable.
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