Tubulocystic Carcinoma of Bile Ducts: A Distinct Type of Cholangiocarcinoma Associated With Adenofibroma-type Lesions.

A type of cholangiocarcinoma (CCA) characterized by peculiar histologic patterns and underlying adenofibromatous lesions has been reported in the literature mostly as individual case reports. This study aims to further clarify the defining characteristics of this spectrum of lesions. Clinicopathologic analysis of 8 biliary tumors with tubulocystic architecture arising in the background of adenofibroma-type lesions was performed. Three of these were also investigated with next-generation sequencing with a 174 genes panel. The patients were 5 males and 3 females, with a mean age of 64.6. All tumors were intrahepatic except for one perihilar that protruded into soft tissues. The mean size was 4.4 cm. At histology, all cases showed a peculiar and cytologically bland tubulocystic pattern that closely resembled tubulocystic-type kidney cancers, including back-to-back microcystic units that formed relatively demarcated nodules, and occurring in the background of adenofibromatous lesions. One case showed perineural invasion by otherwise deceptively benign-appearing microcystic structures, one had areas transitioning to intraductal tubulopapillary neoplasm, and 3 cases harbored more conventional small-duct CCA foci. In those 3 cases, both the tubulocystic and conventional CCA components were investigated by next-generation sequencing separately, and they shared the molecular alterations, including recurrent mutations in chromatin remodeling genes, such as ARID1A , BAP1 , and PBRM1 , and the actionable FGFR2-MCU fusion gene. In the limited follow-up, all but one were alive and free of disease after surgical resection. In conclusion, we described a distinct entity of CCA with specific histo-molecular features, for which we propose the designation of tubulocystic carcinoma of bile ducts.

Endometrial Adenofibroma in a Patient Receiving Toremifene: A Case Report

INTRODUCTION: Adenofibroma is a rare benign Müllerian mixed tumor composed of epithelial and mesenchymal cells. This tumor may occasionally be associated with toremifene therapy which is used as an adjuvant drug for breast cancer. CASE PRESENTATION: We describe a case of a 55-year-old woman with adenofibroma of the endometrium. This patient was receiving toremifene after surgery and neoadjuvant chemotherapy for breast cancer. She underwent a total abdominal hysterectomy and bilateral salpingectomy. There was no evidence of tumor residual or recurrence at 32 months of MRI follow-up. CONCLUSION: In conclusion, we report a rare case of endometrial adenofibroma in a patient receiving toremifene. It must be borne in mind that long-term toremifene therapy may increase the frequency of endometrial neoplasms.

Multimodal imaging findings of intrahepatic cholangiocarcinoma arising from a biliary adenofibroma: a case report with radiological-pathological correlation.

PURPOSE: Biliary adenofibroma is a solid microcystic epithelial neoplasm in the liver, comprising microcystic and tubuloacinar glandular tissues lined by a non-mucin secreting biliary epithelium and supported by a fibrous stroma. It is an extremely rare benign tumor with potential for malignant transformation. Herein, we report the case of a 64-year-old woman diagnosed with intrahepatic cholangiocarcinoma arising from biliary adenofibroma. METHODS: Imaging studies revealed a tumor of 50 mm diameter, consisting of two components in S1 of the liver. The ventral portion of the tumor showed an ill-defined mass with early peripheral and gradual centripetal enhancement invading to the middle hepatic vein on computed tomography (CT), diffusion restriction on magnetic resonance images, and high fluorine-18-2-deoxy-D-glucose (FDG) uptake on positron emission tomography, like conventional intrahepatic cholangiocarcinoma. The dorsal portion showed a well-defined and low-attenuated mass with heterogeneous early enhancement and partial wash-out on CT, marked hyperintensity on heavily T2-weighted images, and low FDG uptake. The patient subsequently underwent extended left hepatectomy. RESULTS: Pathologically, the former was diagnosed as cholangiocarcinoma and the latter as biliary adenofibroma. We discuss the radiological-pathological correlation of the tumor with a literature review. CONCLUSION: Preoperative diagnosis of biliary adenofibroma is extremely challenging; however, clinically, it is crucial not to miss the presence of malignant findings.

Endometrioid adenofibroma of ovary: A case report and review of literature.

RATIONALE: Endometrioid adenofibroma is a benign epithelial neoplasm of the ovary, most of which are often unilateral. The symptoms of endometrioid adenofibroma are often nonspecific and misleading. Therefore, a full understanding of the characteristics, diagnosis, and treatment methods of this disease is of great importance. In this study, we report a 34-year-old woman who was found with an unidentified mass on the right ovary during the physical examination 3 years ago with nosymptoms or signs. PATIENT CONCERNS: A 34-year-old Chinese female was found with an unidentified 6 cm mass on the right ovary for 3 years that presented with no symptoms or signs. DIAGNOSIS: Pelvic ultrasound revealed a 6 cm cystic solid mixed mass on the right ovary. Through histological and immunohistochemical examinations, the tumor mass was finally diagnosed as endometrioid adenofibroma of ovary. INTERVENTIONS: To confirm the diagnosis, the ovarian tumor was laparoscopically resected. OUTCOMES: The patient returned to hospital after 3 months with no recurrence or postoperative complications. LESSONS: Endometrioid adenofibroma is a benign epithelial neoplasm of the ovary. Complete surgical resection is required and rare cases can recur. Postsurgical pathologic and immunohistochemical testing can confirm a diagnosis of endometrioid adenofibroma. It is important to understand of the key points of differential diagnosis of the disease due to the different prognosis and clinical treatment.

Cervical adenofibroma without clinical symptoms: report of a rare case.

Adenofibroma is an extremely rare benign biphasic tumour composed of glandular and fibrous tissues. It occurs more often in the endometrium but it can also occur in the cervix and extrauterine sites. This case report describes a 39-year-old asymptomatic woman with cervical adenofibroma. The patient was treated successfully with surgical removal of the tumour. As adenofibromas are very rare, the report is presented with a brief review of the literature.

Imaging features of biliary adenofibroma of the liver with malignant transformation: a case report with literature review.

BACKGROUND: Biliary adenofibroma (BAF) is a rare primary hepatic tumor with the potential risk of malignant transformation. Given the extreme rarity of the disease, the imaging features of BAF are unclear. We presented a case of malignant BAF and conducted a systematic literature review. We highlighted the key imaging features in the diagnosis and aggressiveness assessment of BAF, as well as the role of various imaging modalities in evaluating BAF. CASE PRESENTATION: We reported a 64-year-old woman with a 5-months history of pain in the right upper quadrant abdomen. US of the liver showed a hypoechoic subcapsular nodule. CT scan revealed a subcapsular solid-cystic mass in segment V of the liver. The mass showed a marked enhancement in the arterial phase followed by wash-out in the venous phase. The patient underwent partial resection of liver's right lobe. The mass was diagnosed as BAF with malignant transformation by postoperative pathology. CONCLUSIONS: CT and MRI are helpful in recognizing and characterizing BAF. The imaging features of BAF include a solitary, large solid-cystic mass with a well-defined margin, lobulated shape, and internal septa; subcapsular location; no intrahepatic bile duct communication; the presence of von Meyenberg complexes in background liver. The enhancement patterns may have the potential to assess the aggressiveness of BAF, and that marked enhancement in the arterial phase followed by wash-out in the venous phase is suggestive of malignant BAF.

A Case of Pulmonary Adenofibroma Treated by Thoracoscopic Resection.

Pulmonary adenofibroma is a rare biphasic tumor that contains epithelial and stromal components. We report a case of pulmonary adenofibroma in which the tumor was resected by thoracoscopic surgery and the diagnosis was established by histopathology. A 59-year-old woman with a past medical history of pyelonephritis visited our hospital for evaluation of an abnormal opacity on a plain chest x-ray during a comprehensive medical examination. A follow-up chest x-ray showed enlargement of the lesion, and the patient was referred to our department for further management. Chest computed tomography revealed a well-circumscribed nodule measuring 1.4 cm in diameter in the upper lobe of the left lung. The chest imaging findings suggested a benign tumor, but because of evidence of lesion enlargement and elevated serum carcinoembryonic antigen levels, we performed wide wedge resection of the left upper lobe by video-assisted thoracoscopic surgery, for diagnosis and treatment. The resected specimen was submitted for rapid pathological diagnosis during the operation, and a benign tumor, possibly sclerosing pneumocytoma, was suspected. Therefore, we completed the operation with wide wedge resection. The final histopathological diagnosis was pulmonary adenofibroma. The patient had an uneventful postoperative course, and at this writing, 6 months postoperatively, there has been no evidence of tumor recurrence. We have reported this case of pulmonary adenofibroma because the tumor is rare, has not yet been well-characterized, and has an unclear prognosis. Collection of data from a larger number of patients is necessary.

Giant serous adenofibroma of the fallopian tube.

Serous adenofibroma of the fallopian tube is a rare, benign tumour of the female genital tract. They are usually small, asymptomatic and incidentally diagnosed during a surgery for another gynaecological condition. This report presents an atypical case of a 17-year-old girl with a tubal serous adenofibroma that presented with a palpable mass occupying the entire abdomen accompanied by urinary symptoms. She underwent a laparoscopic surgery with drainage of 1800 mL of yellow, citrine liquid from the cyst and left salpingectomy with no complications.

Pulmonary Adenofibromas: A Clinicopathologic Correlation of 13 Cases.

Thirteen cases of primary pulmonary adenofibromas are presented. The patients are 8 women and 5 men between the ages of 41 and 73 years (average: 57 y). The patients presented with nonspecific symptomatology or their tumor was identified during routine chest films. A wedge resection was performed in all cases with lymph node sampling. Grossly, the tumors varied in size from 1 to 2.5 cm in greatest dimension. The entire tumor was histologically evaluated in all cases. All the tumors shared similar histologic features namely leaf-like/phyllodes-like growth patterns with varying areas of sclerosis, focal inflammation, and entrapped epithelium. A wide panel of immunohistochemical studies was performed including epithelial, neural, muscle, and vascular markers, all of which showed negative staining. The tumors were positive only for vimentin in the stroma and keratin in the entrapped epithelium. Further evaluation in 6 cases using in situ hybridization for the solitary fibrous tumor was performed and was negative. Clinical follow-up in all the patients showed no evidence of recurrence or metastatic disease, during a period of 12 to 36 months. The current cases highlight the unusual occurrence of pulmonary adenofibromas and the importance of separating these tumors from other tumors that may have the potential to recur or metastasize. The use of proper immunohistochemical stains/molecular analysis aids in the proper classification of these tumors.

Synchronous Pulmonary Adenofibroma and Solitary Fibrous Tumor: Case Report and Review of the Literature.

Pulmonary adenofibroma (PAF) is a rare neoplasm that may be related to solitary fibrous tumor (SFT). A subset of PAFs harbor the NAB2-STAT6 fusion that is typical of SFT, but a significant proportion do not. Their distinction is clinically important as SFTs can potentially have an aggressive clinical course, while there has been no report of a PAF behaving in a malignant fashion. We report a case of a 60-year-old male who developed a SFT and PAF in the same lung. The SFT harbored a NAB2-STAT6 fusion, while the PAF did not have any identifiable fusion. This case represents the first instance of a single patient with both of these tumors occurring simultaneously in the same lung.

Glucocorticoid resistance syndrome caused by a novel NR3C1 point mutation.

Glucocorticoid resistance syndrome (GRS) is a rare genetic disorder caused by inactivating mutations of the NR3C1 gene which encodes the glucocorticoid receptor. The phenotypic spectrum is broad but typically include symptoms of adrenal insufficiency, mineralocorticoid excess and hyperandrogenism. We report a new case associated with a novel NR3C1 mutation. A 55-year-old woman with lifelong history of low body weight, hyperandrogenism and anxiety was seen at the endocrine clinic after left adrenalectomy and salpingoophorectomy for lesions suspicious of ovarian cancer and adrenal metastasis. The tumors turned out to be a 3.5 cm benign ovarian serous adenofibroma and a 3.5 cm multinodular adrenal mass. She complained of worsened fatigue and inability to recover weight lost with surgery. Pre-operative serum and urinary cortisol were elevated, but she had no stigma of Cushing's syndrome. Plasma ACTH was elevated and a 1-mcg cosyntropin stimulation test was normal. Her fatigue persisted over ensuing years and ACTH-dependent hypercortisolemia remained stable. Low dose oral dexamethasone failed to suppress endogenous cortisol. A pituitary MRI was normal but revealed incidental brain aneurysms. Bone densitometry showed profound osteoporosis. On the bases of this contradictory clinical picture, glucocorticoid resistance syndrome (GRS) was suspected. Using next generation sequencing technology, a novel heterozygous pathogenic variant in the NR3C1 gene was detected. We speculate that vascular malformations and profound osteoporosis, findings associated to cortisol excess, reflect in our patient a variable tissue sensitivity to glucocorticoids. In conclusion, in patients with clinically unexpected ACTH-dependent hypercortisolemia, primary glucocorticoid resistance (GRS) should be considered.

Ovarian Clear Cell Adenofibroma of Low Malignant Potential Developing Into Clear Cell Adenocarcinoma.

Ovarian clear cell adenofibroma is uncommon, and borderline clear cell adenofibroma (low malignant potential) is extremely rare. Borderline clear cell adenofibromas may represent the precursor lesion of clear cell adenocarcinoma of the ovary, but this has not been established. We present a case of a woman in her mid-50s with a clear cell adenofibroma ranging from benign to borderline to frankly invasive. While some clear cell adenocarcinomas are thought to arise from endometriosis, this range of findings supports the theory that some ovarian clear cell adenocarcinomas originate from borderline tumors.

Malignant Transformation Arising Within Unusual and Rare Hepatic Lesions: Fibropolycystic Disease Form of Ductal Plate Malformation and Biliary Adenofibroma.

Cholangiocarcinoma is the second most common hepatobiliary cancer following hepatocellular carcinoma, and 20% to 25% are intrahepatic. We describe 2 cases of intrahepatic cholangiocarcinoma arising within unusual and rare hepatic lesions, fibropolycystic liver disease form of ductal plate malformation and biliary adenofibroma, whose association with malignancy is rarely reported in the literature.

Biliary Adenofibroma of Liver: Morphology, Tumor Genetics, and Outcomes in 6 Cases.

Biliary adenofibroma is a rare primary hepatic neoplasm, recognized in the World Health Organization classification, although only 14 cases have been reported to date. This series includes extended follow-up from 2 of the early case reports and 4 novel cases. Clinical history and histology were reviewed in all 6 cases. Tumor DNA was analyzed for point mutations by multiplex polymerase chain reaction and copy number alterations by array comparative genomic hybridization. The patients included 4 females and 2 males presenting between 46 and 83 years of age, with tumors ranging from 7 to 16 cm in diameter. The tumors had similar morphology, with tubules and cysts lined mainly by bland to mildly atypical cuboidal epithelium embedded in fibrous stroma. Multiplex polymerase chain reaction did not identify mutations in 4 tumors tested. Three tumors tested by array comparative genomic hybridization showed chromosomal copy number alterations, including 1 with amplifications of CCND1 and ERBB2. Three patients underwent resection with no recurrence at 21, 20, and 3 years of follow-up. One patient is alive after 14 months with no resection. Two patients with margin-positive resections had local recurrence at 1 and 6 years after surgery. No patient had distant metastasis. The distinct morphology and multiple clonal cytogenetic alterations in biliary adenofibromas indicate that the lesions are neoplastic. Amplifications of CCND1 and ERBB2 are not typical of benign neoplasms, and suggest that these tumors may have the ability to behave aggressively. However, the clinical outcomes in these patients suggest the neoplasms are only slowly progressive.

Sclerosing polycystic adenosis: A rare tumor misdiagnosed as retention cyst on fine needle aspiration cytology.

Sclerosing polycystic adenosis (SPA) is a rare benign neoplasm of the salivary gland which resembles the fibrocystic disease of the breast clinically as well as morphologically. This entity has varied morphological presentation on fine needle aspiration. Only a few case reports and occasional case series are found in the literature describing its cytology. Here we are presenting a case of SPA in the parotid gland in a 13-year-old male patient who presented with a slow growing infra-auricular mass since one year without any other symptoms. Radiological investigation suggested a possibility of matted level II cervical lymph nodes. Fine needle aspiration of the same showed only crystalloids in a dirty background. Hence, a possibility of retention cyst was given and excision was advised. On histopathological examination, the mass was diagnosed as Sclerosing polycystic adenosis of the parotid gland. Since SPA is a rare entity with diverse morphological features, it is more likely to be misdiagnosed on cytology. Recognition of this benign entity is important since the differential diagnosis includes other more common benign and malignant salivary gland neoplasm particularly mucoepidermoid carcinoma and other tumors with cystic and oncocytic features. Repeat aspiration from multiple sites should be considered in cystic lesions of the salivary gland so that its varied cytological components can be yielded to help with the diagnosis. Diagn. Cytopathol. 2017;45:640-644. © 2017 Wiley Periodicals, Inc.

Adenofibroma in the Uterine Cervix Manifesting as Multilocular Cystic Lesions.

Uterine cervical adenofibroma, a very rare benign neoplasm, has rarely been reported in imaging features in the English literature. Herein, we describe a case of uterine cervical adenofibroma that was depicted as a multilocular cystic lesion with enhanced solid portions.