Jinping Lai

Gastric heterotopia in rectum: A literature review and its diagnostic pitfall

Objectives: The term heterotopia, in pathology, refers to the presence of normal tissues at foreign sites. Gastric heterotopia has been reported anywhere in the gastrointestinal tract. However, the presence of gastric heterotopia in the rectum is very rare. Methods: We, here, report a rare case of a localized 2-cm area of cratered mucosa with heaped-up borders in the rectum of a 51-year-old, asymptomatic woman who underwent screening colonoscopy. Results: Histologic examination of the biopsy from the lesional tissue in rectum demonstrated fragments of rectal mucosa co-mingling with oxyntic- and antral-type gastric mucosa. No intestinal metaplasia or Helicobacter pylori is identified. Conclusion: Patients with gastric heterotopia in rectum usually present with bleeding and/or abdominal pain. Definite treatment of choice is surgical or endoscopic resection, although the lesions also respond to histamine-2 receptor blockers. In this article, most recent literature about gastric heterotopia in rectum is reviewed, following a case presentation about it.

Autologous Graft-Versus-Host Disease of the Gastrointestinal Tract in Patients With Multiple Myeloma and Hematopoietic Stem Cell Transplantation

Multiple myeloma (MM) is the most common indication for autologous hematopoietic stem cell transplantation (HSCT) in North America. Despite occurring in up to 50% of patients undergoing allogeneic HSCT, the incidence of graft-versus-host disease (GVHD) after autologous HSCT is reportedly only 5-20%. Gastrointestinal involvement with graft-versus-host disease (GI GVHD) is a common and serious complication of allogeneic HSCT. GI GVHD after autologous transplant, which is referred to as autologous GVHD (auto-GVHD), has also been described. Auto-GVHD is usually less severe than allogeneic GVHD, and it can be one of the manifestations of engraftment syndrome with release of inflammatory cytokines and infiltration of auto-reactive T cells into affected tissue. Seventy-nine percent of patients respond well to corticosteroids without evidence of recurrence. However, cases of severe auto-GVHD lacking good response to corticosteroids have been reported, most notably in MM patients. Here we present two cases of autologous GI GVHD in recipients of autologous HSCT for treatment of MM. Our cases demonstrate two distinct clinical and endoscopic presentations of this uncommon entity. In the first case, the patient had more severe clinical symptoms accompanied by radiographic, endoscopic, and pathologic findings. The hospital course was complicated by cryptosporidium enteritis and acute cholecystitis in the setting of increased immunosuppression with a corticosteroid for presumed auto-GVHD. In contrast, the second case presented a patient with normal radiologic and endoscopic findings. Pathology revealing frequent apoptotic bodies led to auto-GVHD as a diagnosis. Both our patients received similar courses of chemotherapy prior to autologous HSCT (four cycles of a proteasome inhibitor, lenalidomide, and dexamethasone). Our work highlights the importance of maintaining a high level of clinical suspicion for auto-GVHD in patients presenting with GI symptoms after autologous HSCT, as it is a potentially treatable pathology that may be easily confused with other conditions. Health care providers should be aware of the potential complications of auto-GVHD after autologous HSCT and should be suspicious of auto-GVHD if GI symptoms occur, especially in patients receiving immunomodulatory therapy for MM, even in the absence of gross endoscopic findings.

Adenocarcinoma Ex Goblet Cell Carcinoid (GCC) of the Appendix: Report of Five Cases and Pitfalls in Diagnosis of GCC

Neoplasm of the appendix is relatively rare. Only 0.9-1.4% of all appendectomy specimens is found to have it. One in particular is the adenocarcinoma ex goblet cell carcinoid. The exact histopathogenesis and pathologic classification of this neoplasm are yet to be elucidated. Herein we report five cases to emphasize the importance of meticulous sampling and the possibility of misdiagnosis due to the presence of diverticulitis and acute appendicitis in some of these patients. All of our patients initially were presented with symptoms of or mimicking appendicitis, with radiology imaging suggestive of acute appendicitis or an appendiceal abscess. The pathologic examination of the appendectomy specimen revealed the incidental finding of the adenocarcinoma ex goblet cell carcinoid with focal positivity of synaptophysin and chromogranin. Two of our patients had diverticulitis and perforated appendicitis, which may lead to a misdiagnosis of the goblet cell carcinoid due to the absence of a discrete mass formation and focal localization of these tumor cells. Therefore, meticulous sampling is imperative in the diagnosis of this entity

BRCA-mutated Invasive Breast Carcinomas: Immunohistochemical Analysis of Insulin-like Growth Factor II mRNA-binding Protein (IMP3), Cytokeratin 8/18, and Cytokeratin 14.

To evaluate the expression of insulin‐like growth factor II mRNA‐binding protein (IMP3), CK8/18, and CK14 in BRCA mutated and sporadic invasive breast carcinoma. Immunohistochemistry for IMP3, CK8/18, and CK14 was performed on 39 cases of invasive breast carcinomas with BRCA mutation (24 BRCA1, 14 BRCA2, and 1 dual BRCA1/BRCA2) and 54 cases of sporadic invasive breast carcinomas. The relationship between the IMP3, CK8/18, and CK14 and the tumor grade and molecular phenotypes were analyzed. IMP3, CK8/18, and CK14 positivity were present in 20 (51%), 22 (56%), and 14 (36%) of 39 BRCA‐mutated breast carcinomas, and 11 (20%), 53 (98%), and 24 (44%) of 54 sporadic breast carcinomas respectively. The rates of IMP3 expression and absence of CK8/18 (44% versus 2%) in BRCA‐mutated breast carcinomas was significantly higher than the sporadic breast carcinomas (p = 0.002 and p < 0.001). No significant difference was observed for CK14 among the two groups (p = 0.408). No significant difference was observed among BRCA1‐related and BRCA2‐related breast carcinomas in the immunoprofile for IMP3, CK8/18, and CK14. No significant correlation was identified between the expression of IMP3 and CK8/18 and the tumor grade in both BRCA‐mutated and sporadic breast carcinomas (p > 0.05). In cases with luminal A and B phenotypes, the rates of expression of IMP3 and loss of CK8/18 were significantly higher in BRCA‐mutated as compared to sporadic breast carcinoma (p < 0.001). In cases with basal‐like phenotype, the absence of CK8/18 expression was significantly higher in BRCA‐mutated breast carcinomas (54% versus 0%, p = 0.001), while no difference was observed for IMP3 expression (p = 0.435). Regardless of mutation type, histologic grade, or molecular phenotype, the absence of CK8/18 expression and presence of IMP3 expression are seen at much higher rate in BRCA mutated breast carcinomas.

Foamy Histiocyte-like Esophageal Adenocarcinoma: Unusual Morphology and Diagnostic Pitfalls

In the United States and other western countries, the vast majority of primary esophageal malignancies are adenocarcinomas arising in the lower esophagus within a background of Barretts esophagus. The microscopic feature of esophageal adenocarcinoma varies, with the tubular or papillary adenocarcinoma of intestinal pattern being the most common, and other less common morphological patterns include adenosquamous, signet ring cell, mucinous, mucoepidermoid, and adenoid cystic carcinoma. This is a case report of esophageal adenocarcinoma with foamy histiocyte-like feature in a 71-year-old male with a history of smoking and Barretts esophagus who presented with dysphagia and weight loss. The tumor cells showed an abundant foamy cytoplasm, low N/C ratio and irregular nuclear contour. They were arranged in single, trabecular and glandular patterns and deeply invaded adventitia. Lymphovascular invasion and perineural invasion were present. The foamy histiocyte like–tumor cells were negative for CD68, but strongly and diffusely positive for CK7. E-Cadherin was maintained in the tumor cells, and p53 immunostaining revealed a wild-type staining pattern. To the best of our knowledge, this is the first documented case of primary esophageal adenocarcinoma with foamy-histiocyte-like phenotype. The clinical course, diagnosis and prognosis of this entity are discussed.

Comparison of endoscopic ultrasound guided fine needle aspiration and PET/CT in preoperative diagnosis of pancreatic adenocarcinoma

BACKGROUND Endoscopic ultrasound guided fine needle aspiration (EUS-FNA) is the procedure of choice to investigate and sample pancreatic masses for the preoperative diagnosis of pancreatic ductal adenocarcinoma (PDAC). The role of 18fluoro-deoxyglucose positron emission tomography/computed tomography (PET/CT) in PDAC is debated. This study evaluates the role of EUS-FNA as compared to PET/CT in the preoperative evaluation of PDAC. METHODS Preoperative evaluation by PET/CT and EUS-FNA was performed on 25 patients with pancreatic solid lesions, who underwent a subsequent Whipple procedure or partial pancreatic resection. RESULTS This series included 19 PDACs and 6 non-PDACs including 1 metastatic breast ductal adenocarcinoma, 2 low grade neuroendocrine tumors, 2 chronic pancreatitis and 1 gastrointestinal tumor abutting the pancreas. EUS-FNA correctly diagnosed 18 of 19 PDACs, 1 metastatic breast ductal adenocarcinoma and all 5 of the other non-PDAC cases. One case of well differentiated PDAC was negative on EUS-FNA. PET/CT provided excellent size and was positive in 14 of 19 PDACs and the metastatic breast ductal adenocarcinoma. The sensitivity, specificity, positive predictive value, negative predictive value and accuracy for EUS-FNA in diagnosis of selected pancreatic tumors were 91%, 100%, 100%, 50% and 92%, respectively, while they were 65%, 100%, 100%, 20% and 68% for PET/CT, respectively. CONCLUSIONS Compared to PET/CT, EUS-FNA has a higher sensitivity and accuracy for preoperative diagnosis of PDAC. However, PET/CT provides excellent size, volume and stage information. A combination of both PET/CT and EUS will better help guide diagnosis and treatment of pancreatic adenocarcinoma.

Mixed Adenocarcinoma and Squamous Cell Carcinoma of Duodenum: A Case Report and Review of the Literature

Despite being the largest part of the human gastrointestinal (GI) tract, the small intestine accounts for only 1–1.4% of all GI malignancies. Adenocarcinoma is the most common primary small bowel malignancy, with the most common site being the duodenum. On the other hand, squamous cell carcinoma (SCC) of the duodenum is extremely uncommon. We report the first case of mixed adenocarcinoma and SCC occurring in the third part of duodenum (D3). Our patient, a 64-year-old female with history of GERD, hypertension, and IDDM presented with 4 weeks of nausea, vomiting, and abdominal pain. Tomographic imaging of her abdomen demonstrated a distended stomach and a proximal duodenum with narrow caliber changes at the level of D3. An EGD revealed a tight stricture at D3 that could not be traversed. Stricture biopsies revealed duodenal mucosa with two small foci of SCC (positive for p63 and CK5/6) and adenocarcinoma (positive for CK7 and Moc31). Peritoneal metastases were detected on exploratory laparotomy, making the tumor surgically incurable. As she progressively declined and with worsening liver enzymes and general debility, she was not a candidate for chemotherapy and was eventually discharged on home hospice. Small bowel SCC/adenocarcinoma is an exceedingly uncommon cancer, making further case reports such as ours important to understand the nature of this entity and establish management guidelines.

Reduced or absent NA+/I- symporter expression in papillary thyroid microcarcinomas

Background: Radioactive iodine (RAI) is a treatment for patients with thyroid carcinoma after thyroidectomy. The Na+/I− symporter (NIS) plays a role in this ability to concentrate iodide within tumor cells. Recent studies have shown a correlation between immunohistochemical staining of NIS and the ability to concentrate iodide mainly in tumors >1.0 cm. Here only papillary thyroid microcarcinomas (PTMC) with or without LN metastasis (LNM) are evaluated to observe NIS expression. Design: A retrospective study involved 47 cases of PTMC (24 with and 23 without LNM). Immunostains were performed using two different monoclonal anti-NIS antibodies: clone SPM186 from Abcam and clone FP5A from Millipore. Results: The findings were very similar using two different monoclonal antibodies. One out of 24 cases with LNM displayed focal expression of NIS while two cases showed several NIS-positive cells. None of 23 cases without LNM and none of metastatic tumors showed NIS expression. Ten benign nodules with Hürthle cell features exhibited moderate membranous stain. Conclusion: PTMC with or without LNM show minimal to no expression of NIS. NIS expression and function may not be the same in PTMC vs a non-PTMC and RAI therapy may not be effective in treating PTMC due to lack of NIS.