Coexistence of Epstein–Barr virus-associated gastric carcinoma with malignant lymphoma: report of two cases

Epstein–Barr virus (EBV)-associated gastric carcinoma (EBV-GC) is not rare, accounting for 5 to 18% of all gastric carcinomas. Recently, we encountered two cases of EBV-GC of ordinary histopathological type coexistent with malignant lymphoma. One patient was a 71-year-old Japanese man who had two lesions, one in the cardia and the other in the antrum of the stomach. The former was EBV-GC without lymphoma, and antral one was EBV-GC with diffuse large B-cell lymphoma (DLBCL). The other patient was a 49-year-old Japanese man who had received chemotherapy for pelvic DLBCL 3 years earlier. He had EBV-GC with follicular lymphoma in the fundus of the stomach. In both cases, gastric carcinomas were positive for EBV-encoded small RNA by in situ hybridization, whereas the lymphoma cells, infiltrating nonneoplastic lymphocytes, and nonneoplastic epithelial cells were negative. The present cases suggest that focal immunosuppression by adjacent gastric lymphomas might be related to the alteration of the microenvironment and development of EBV-GC.     

Brunner’s gland adenoma of duodenum: report of two cases

Brunner’s gland adenoma is a rare tumor of the duodenum and might also be an unusual cause of gastrointestinal bleeding or obstruction. The pathogenesis of Brunner gland hamartoma of the duodenum is unknown. We report two cases of Brunner’s gland adenoma. Surgical resection was carried out because the tumor size was big in both cases and one accompanied with bleeding. Pathological examination revealed submucosal nodular hyperplasia of the Brunner’s glands.     

Adult Hirschsprung’s disease: report of four cases

Adult Hirschsprung’s disease (HD) is a rare motor disorder of the gut that is frequently misdiagnosed as refractory constipation. The primary pathogenic defect in adult HD is identical to that seen in infancy or childhood, and is characterized by the total absence of intramural ganglion cells of the submucosal (Meissner) and myenteric (Auerbach) neural plexuses in the affected segment of the bowel. Ninety-four percent of HD cases are diagnosed before the patient reaches 5 years of age, however, on rare occasion, mild cases of HD may go undiagnosed until he or she reaches adulthood. In this study, we describe four cases of adult HD with a history of longstanding recurrent constipation, relieved by laxatives, and presenting to the Department of Gastrointestinal Surgery with progressive abdominal distention, colicky pain or acute intestinal obstruction. Barium enema or computed tomography revealed a grossly distended proximal large colon with fecal retention. Intraoperative frozen section biopsy was performed in all cases and showed aganglionosis of the stenotic segment and a normal distal rectum. In all cases, patient symptoms were completely resolved and there were no complications arising immediately post-surgery or at one-year follow-up. Adult HD should be considered in the differential diagnosis of cases where adult patients present with chronic constipation or even acute intestinal obstruction. The modified one-stage Martin-Duhamel or Rehbein’s procedure is a feasible surgical option for treating cases of adult HD involving a segment or the entire bowel.     

Müllerianosis and endosalpingiosis of the urinary bladder: report of two cases with review of the literature

Müllerianosis of the urinary bladder is an extremely rare benign condition, characterized by the presence of a mixture of at least two müllerian-derived components, and endosalpingiosis is also an extremely rare condition, characterized by the presence of tubal-type epithelium. In this report, we describe the 17^th case of müllerianosis and 5^th case of endosalpingiosis of the urinary bladder. A 39-year-old Japanese female presented with menstrual hematuria and was found to have a polypoid lesion in the posterior wall of the urinary bladder. Histopathological study demonstrated variably-sized dilated tubular glands in the lamina propria and muscularis propria. These dilated glands were covered by ciliated cuboidal cells, and some of them were covered by columnar cells with intracytoplasmic mucin. Moreover, a tiny focus of endometrial tissues was also present. Immunohistochemically, these glandular cells were positive for estrogen receptor. Accordingly, a diagnosis of müllerianosis was made. The second case was a 37-year-old Japanese female, who was found to have a polypoid lesion in the posterior wall of the bladder. Dilated tubular glands were covered by ciliated cells in the lamina propria and muscularis propria. Neither endocervical nor endometrial tissues were observed. Immunohistochemically, these ciliated cells were positive for estrogen receptor. Accordingly, a diagnosis of endosalpingiosis was made. Our analysis revealed that these two conditions mainly affect premenopausal females and occur exclusively in the posterior wall. Although the pathogenesis remains completely unresolved, a metaplastic theory is favored. The recognition of these two conditions is important because they can mimic invasive adenocarcinoma.     

Successful use of azithromycin for Escherichia coli–associated renal allograft malakoplakia: a report of two cases

European Journal of Clinical Microbiology & Infectious Diseases - Malakoplakia is a chronic granulomatous disease associated with incomplete clearance of bacterial pathogens. A multimodal...     

Hypoplastic left heart syndrome: Rheumatic heart disease of the fetus?

Hypoplastic left heart syndrome (HLHS) accounts for nearly 25% of deaths among neonates with congenital heart disease. The essential feature of HLHS is a small left ventricle (LV) incapable of supporting the circulation. The etiology of HLHS is unknown. A hypothesis is proposed implicating an immune mechanism involving maternal antibodies produced in response to pharyngitis caused by group A beta-hemolytic streptococci (GABHS) ("strep throat"). After crossing the placenta, the antibodies injure the developing fetal heart, leading to HLHS either because of direct injury to the LV or secondary to reduced blood flow through affected aortic and mitral valves. Analogy is drawn to rheumatic heart disease (RHD), a known sequela of strep throat. In RHD a misdirected immune response originally intended for GABHS leads to cardiac injury through "molecular mimicry"; the normal heart antigens supposedly mimic the GABHS antigens. A similar pathogenesis is proposed for HLHS and related heart defects. HLHS may represent an extreme form of injury, while a milder insult may present as only mild aortic stenosis or a bicuspid aortic valve, conditions with wide prevalence among the general population. The injury may indeed superimpose on many other congenital heart defects, leading to a variable presentation of these other diseases. Beside remarkable likenesses between HLHS and RHD, the hypothesis is also supported by increasing evidence for the role of deleterious transplacental antibodies in the pathogenesis of other fetal diseases. Implications for other congenital heart diseases and the broader picture of global public health are discussed.     

Lymphoplasmacytic lymphoma/Waldenstr?m macroglobulinemia associated with Hodgkin disease. A report of two cases.

Although the clinical course of lymphoplasmacytic lymphoma (LPL)/Waldenstr?m macroglobulinemia (WM) is usually indolent, high-grade non-Hodgkin lymphoma may develop in a small subset of patients. We have not found any patients with LPL/WM associated with Hodgkin disease (HD) described in the literature, prompting us to report 2 cases. In case 1, the patient had LPL/WM involving bone marrow diagnosed 1 week before left supraclavicular lymph node biopsy revealed LPL/WM and classical HD. In case 2, the patient had a 15-year history of LPL/WM before classical HD developed involving bone marrow, liver, and lymph node. Both cases were positive for IgM, monotypic immunoglobulin light chain, and B-cell antigens and were CD3-. The neoplastic Hodgkin cells were CD15+, CD20+ (case 1), CD30+, CD3-, and CD45- and were negative for Epstein-Barr virus RNA. Both patients were treated with chemotherapy for HD. In case 1, clinical response was excellent with no histologic evidence of HD in subsequent biopsy specimens. In case 2, HD was progressive at last follow-up, despite therapy. Patients with LPL/WM, similar to patients with other types of low-grade B-cell lymphoma, can develop HD that may respond to chemotherapy.     

累及骨和软骨Rosai–Dorfman病2例报告并文献复习

目的:探讨2例累及骨和软骨的结外罗道(Rosai–Dorfman)病的临床病理特征、诊断及鉴别诊断。方法:复习分别位于右胫骨近端及甲状软骨的2例Rosai–Dorfman病患者的临床和影像学资料,行组织学观察及免疫组织化学分析,并复习相关文献。结果:39岁女性,右胫骨占位及38岁男性,甲状软骨肿物。影像学示前者右胫骨上段溶骨性骨质破坏;CT示后者甲状软骨前实性占位,与甲状软骨界限不清。光镜下前者病变在破碎骨小梁间生长,后者病变包绕并侵犯甲状软骨,并在软骨化骨骨小梁间侵袭性生长。低倍镜下组织细胞显著增生,与浸润的淋巴细胞、浆细胞形成明暗相间的结构,部分组织细胞体积较大,呈多边形或椭圆形;胞浆淡嗜酸性或空亮,泡状核,可见小核仁;部分胞浆内见吞噬完整的淋巴细胞和(或)浆细胞、中性粒细胞等。免疫组织化学标记组织细胞表达S–100蛋白和CD68,不表达CD1a。结论:累及骨和软骨的Rosai–Dorfman病罕见,临床及影像学检查均容易误诊。组织学形态及免疫组织化学检查是确诊的唯一依据。     

Sinus histiocytosis with massive lymphadenopathy (Rosai Dorfman disease): evidence for a dendritic cell derivation?

Sinus histiocytosis with massive lymphadenopathy or Rosai-Dorfman disease is a rare histiocytic disorder of unknown origin. Both dendritic cell and monocyte-macrophage lineage have been considered as the origin of the histiocytes that are classical of the disorder. We analyzed seven cases of Rosai-Dorfman disease to determine the immunophenotypic profile of these cells. Immunohistochemical analysis was undertaken by using: (a) fascin as a novel mature dendritic cell marker; (b) S-100 protein; (c) CD68 (both KP1 and PGM1) as macrophage related markers; (d) CD79a and (e) CD3. The Rosai-Dorfman histiocytes exhibited strong cytoplasmic staining for fascin in all the cases and demonstratedformation of a meshwork of fine dendritic processes emanating from the cell cytoplasm. S-100 protein was uniformly expressed in all the cases. Expression of both KP1 and PGM1 epitopes of CD68 was found to be weak and variable. The phagocytosed lymphocytes were composed of an admixture of both B and T-lymphocytes. The characteristic expression pattern of the histiocytes for fascin along with co-expression of S-100 protein and a consistently weaker and variable expression of macrophage-lineage markers point more towards a dendritic cell ontogeny of these cells. Further, abundant fascin expression and presence of dendritic processes indicate a differentiated or mature dendritic cell phenotype for these cells.     

Cantú syndrome: report of nine new cases and expansion of the clinical phenotype

Cantú syndrome, a rare disorder of congenital hypertrichosis, characteristic facial anomalies, cardiomegaly, and osteochondrodysplasia was first described in 1982 by Cantú. Twenty-three cases of Cantú syndrome have been reported to date. The pathogenesis of this rare autosomal dominant condition is unknown. We describe 10 patients with Cantú syndrome (9 new cases and the long-term follow-up of a 10th case reported by Robertson in 1999) comparing the phenotype with that of the previously reported cases. We describe how the distinctive facial appearance evolves with time and report several new findings including recurrent infections with low immunoglobulin levels and gastric bleeding in some of our patients. The cardiac manifestations include patent ductus arteriosus, septal hypertrophy, pulmonary hypertension, and pericardial effusions. They may follow a benign course, but of the 10 cases we report, 4 patients required surgical closure of the patent ductus arteriosus and 1 patient a pericardectomy. Long-term follow-up of these patients has shown reassuring neuro-developmental outcome and the emergence of a behavior phenotype including obsessive traits and anxiety.     

Functional and genetic characterization of two extremely rare cases of Williams–Beuren Syndrome associated with chronic granulomatous disease

Williams–Beuren syndrome (WBS) is a neurodevelopmental disorder with multi-systemic manifestations, caused by a heterozygous segmental deletion of 1.55–1.83 Mb at chromosomal band 7q11.23. The deletion can include the NCF1 gene that encodes the p47^phox protein, a component of the leukocyte NADPH oxidase enzyme, which is essential for the defense against microbial pathogens. It has been postulated that WBS patients with two functional NCF1 genes are more susceptible to occurrence of hypertension than WBS patients with only one functional NCF1 gene. We now describe two extremely rare WBS patients without any functional NCF1 gene, because of a mutation in NCF1 on the allele not carrying the NCF1-removing WBS deletion. These two patients suffer from chronic granulomatous disease with increased microbial infections in addition to WBS. Interestingly, one of these patients did suffer from hypertension, indicating that other factors than NADPH oxidase in vascular tissue may be involved in causing hypertension.     

How does secondary neoplasm arise from mature teratomas in growing teratoma syndrome of the ovary? A report of two cases

Development of secondary neoplasm in mature teratomas is a long‐term potential risk in growing teratoma syndrome (GTS) of the ovary. The origin or histogenesis of the secondary neoplasm, however, is scarcely understood. We herein report two cases of GTS that began secondary neoplastic change 10 and 22 years after initial presentation. In one case, microscopic carcinoids were scattered over various mature elements derived from three germ cell layers: some were close to the intestinal‐type glands or adipose tissue and others lay in the glia. This implies that these carcinoids multicentrically originated from pluripotent stem cells that had been latent in various mature tissues. In contrast, the other case had only one focus of intestinal‐type tubular adenocarcinoma, measuring 5 mm in diameter, adjacent to the intestinal‐type glands. Malignant transformation of intestinal‐type glands is most likely to account for this adenocarcinoma. In both cases, peritoneal mature teratomas also contained foci of endometriosis, almost exclusively in their glial components. In conclusion, the present cases suggest two diverse histogenesis of secondary neoplasm in GTS and a specific role of glia in the development of endometriosis in peritoneal teratomas.     

Küttner's tumor of the submandibular glands: report of five cases with fine-needle aspiration cytology

Küttner's tumor (KT) is a benign tumor-like lesion of the salivary gland that mimics neoplasm clinically because of presentation as a hard mass. Recently, the histomorphological and immunohistochemical findings of this lesion have been analyzed, and differential diagnostic problems relating to salivary gland lymphoma have been discussed. However, currently there is little information on the cytological findings of those lesions. We present cytological findings from five such cases using fine-needle aspiration cytology (FNAC). FNAC of this lesion may present a diagnostic challenge to the cytologist as lesions share some cytologic features with inflammatory process containing numerous lymphoid cells. Smears obtained from two cases contained moderate to large numbers of lymphoid cells without definite cytological atypia, scattered ductal structures, and acinar cell clusters. The remaining three cases showed low cellularity probably attributable to fibrosis that made it difficult to aspirate the cellular element. FNAC findings of scattered ductal structures surrounded by collagens and infiltrated by a mixed population of lymphoid cells, not specific for KT, are highly suggestive of the diagnosis with the appropriate clinical findings. However, a portion of cytological specimens of KT containing relatively large numbers of lymphoid cells should be differentiated from malignant lymphoma arising from the submandibular gland.     

Encapsulated apocrine papillary carcinoma of the breast—a tumour of uncertain malignant potential: report of five cases

Five cases of an unusual encapsulated apocrine papillary tumour are reported. All presented as cystic masses in the breast of women aged 44–84 years. Imaging studies showed a complex cyst often with one or more mural nodules. The key histological features are similar to those of classical encapsulated papillary carcinoma in that myoepithelial cells were absent within the papillary structures and at the periphery of the cyst. All were pure apocrine in type and showed variable degrees of cytological atypia and mitotic activity. All lacked evidence of malignancy in the breast tissue outside of the lesion. Sentinel lymph node biopsies performed in three of the cases were negative for metastases, and all have behaved in a benign fashion.     

Primary breast lymphoma – a review of the literature and report of three cases

Primary breast lymphoma (PBL) is a rare disease accounting for 0.4-0.5% of all breast malignancies. Diffuse large B-cell lymphoma (DLBCL) is the most common histological diagnosis. The clinical presentation of PBLs is usually no different from that of carcinoma. In this paper we review the literature on the clinical presentation, diagnosis, prognostic factors and treatment options of PBL. In the light of the information gained we discuss three patients with primary breast lymphoma (one with a central nervous system relapse) who were treated in our department in the years 2002-2007. In conclusion: there is no consensus on the question of how to best treat PBL: chemotherapy, radiotherapy or combined therapy. However, the last approach to be the most successful one. Due to high incidence of central nervous system (CNS) involvement in PBL patients, many authors strongly believe that patients with aggressive forms of PBL should receive CNS infiltration prophylaxis, even in the early stages, as this may improve the outcome and significantly reduce the risk of a CNS disease relapse.