Papillary Tumors of Pineal Region: A Single-Center Experience in Management of 11 Cases.

BACKGROUND: Papillary tumors of pineal region (PTPR) comprise a very rare subset of pineal region tumors that have been recently described. Literature on the management and outcome of PTPR is scarce owing to the rarity of these tumors. To address this lacuna, we analyzed our experience in management of PTPR. METHODS: We retrospectively analyzed the outcome of 11 patients with histopathologically proven PTPR who underwent surgical excision at our center. RESULTS: Mean patient age was 33.3 years (range, 12-45 years), and male-to-female ratio was 1.75:1. Headache was the most common presentation followed by visual disturbances, altered sensorium, Perinaud syndrome, and seizures. Cerebrospinal fluid diversion was required in 6 patients. Krause approach was the most common approach used for tumor excision (9/11 cases). There was no perioperative mortality. Two patients were lost to follow-up. In the remaining 9 patients, the average follow-up period was 45 months (range, 12-79 months). On first postoperative magnetic resonance imaging, 8 patients showed no evidence of residual tumor (gross total resection), while 1 patient had small residual tumor (near-total resection) that remained stable during follow-up. Four patients underwent adjuvant chemoradiotherapy. None of the patients developed recurrence during follow-up. CONCLUSIONS: PTPR are a rare subgroup of pineal region tumors with distinct cells of origin but presentation similar to other pineal region tumors. Surgical resection constitutes the mainstay of management, and the extent of resection appears to be the most important determinant of prognosis. The role of adjuvant therapy still needs to be determined.

Malignant transformation of pulmonary bronchiolar adenoma into mucinous adenocarcinoma: A case report.

BACKGROUND: Bronchiolar adenoma (BA) and ciliated muconodular papillary tumor are rare tumors that have bilayered cell proliferation and continuous expression of p40 and CK5/6 in the basal cell layer. Diagnosis is difficult because of the limited knowledge of these tumors and their morphological similarities to malignant tumors, including invasive mucinous adenocarcinoma, especially based on the histopathology of intraoperative frozen sections. These tumors are now considered to be benign neoplasms, with malignant transformation reported in only a few cases. CASE SUMMARY: A 57-year-old woman presented with a 17.0 mm × 7.0 mm nodule in the lower lobe of the left lung. Hematoxylin-eosin staining and immunohistochemistry of a surgical specimen were performed. The tumor consisted of a BA area and a mucinous adenocarcinoma (MA) area. In the BA area, the tumor had a bilayered structure of luminal cells and basal cells. The basal cells were positive for CK5/6 and p40, but the MA area was negative for these biomarkers. The Ki-67 proliferation index was low (1%-2%). The patient was diagnosed with BA accompanied by MA, and had a favorable outcome. CONCLUSION: The present study indicated that BA may be carcinogenic, and suggests that clinicians should be aware of its potential for malignant transformation.

PTEN R130Q Papillary Tumor of the Pineal Region (PTPR) with Chromosome 10 Loss Successfully Treated with Everolimus: A Case Report.

Papillary tumors of the pineal region (PTPR) can be observed among adults with poor prognosis and high recurrence rates. Standards of therapy involve total surgical excision along with radiation therapy, with no promising prospects for primary adjuvant chemotherapy, as long-term treatment options have not been explored. Chromosome 10 loss is characteristic of PTPR, and PTEN gene alterations are frequently encountered in a wide range of human cancers and may be treated with mTORC1 inhibitors such as everolimus. In parallel, there are no reports of treating PTPR with everolimus alone as a monopharmacotherapy. We report the case of a patient diagnosed with PTPR (grade III) characterized by a PTEN R130Q alteration with chromosome 10 loss that was treated with everolimus pharmacotherapy alone, resulting in an asymptomatic course and tumor regression, a rare yet notable phenomenon not described in the literature so far with potential to alter the management approach to patients with PTPR.

Renal Tumors with Oncocytic and Papillary Features: A Phenotypic and Genotypic Study.

The occurrence of kidney oncocytic lesions with an admixed papillary component is not unusual in routine pathology practice. These neoplasms with dual morphology are classically recognized as collision tumors with variable malignant potential. Using immunohistochemistry, we investigated fluorescent in situ hybridization and next generation sequencing of the genetic and phenotypic profiles in the two components of 11 kidney tumors with colliding oncocytic and papillary features. The oncocytic component was CD117 positive, CK7 negative, and AMACR negative; the papillary component was CK7 positive, AMACR positive, and CD117 negative in all cases. Fluorescence in situ hybridization (FISH) results were inconsistent. Next generation sequencing (NGS) analysis demonstrated that the mutations identified in the two tumor components were identical and displayed an allelic frequency of approximately 50%, strongly suspicious for genetic polymorphisms. The two oncocytic and papillary tumor counterparts shared the same genetic profile and did not harbor pathogenic mutations. Clinical confirmation of the biological benign features of these tumors is required. The term collision tumor is not suitable for these neoplasms, and we propose the term oncopapillary tumor for this histological entity.

Endoscopic pancreaticobiliary drainage with overlength stents to prevent delayed perforation after endoscopic papillectomy: A pilot study.

BACKGROUND: Endoscopic papillectomy (EP) is rapidly replacing traditional surgical resection and is a less invasive procedure for the treatment of duodenal papillary tumors in selected patients. With the expansion of indications, concerns regarding EP include not only technical difficulties, but also the risk of complications, especially delayed duodenal perforation. Delayed perforation after EP is a rare but fatal complication. Exposure of the artificial ulcer to bile and pancreatic juice is considered to be one of the causes of delayed perforation after EP. Draining bile and pancreatic juice away from the wound may help to prevent delayed perforation. AIM: To evaluate the feasibility and safety of placing overlength biliary and pancreatic stents after EP. METHODS: This is a single-center, retrospective study. Five patients with exposure or injury of the muscularis propria after EP were included. A 7-Fr overlength biliary stent and a 7-Fr overlength pancreatic stent, modified by an endoscopic nasobiliary drainage tube, were placed in the common bile duct and pancreatic duct, respectively, and the bile and pancreatic juice were drained to the proximal jejunum. RESULTS: EP and overlength stents placement were technically feasible in all five patients (63 ± 12 years), with an average operative time of 63.0 ± 5.6 min. Of the five lesions (median size 20 mm, range 15-35 mm), four achieved en bloc excision and curative resection. The final histopathological diagnoses of the endoscopic specimen were one tubular adenoma with high-grade dysplasia (HGD), one tubulovillous adenoma with low-grade dysplasia, one hamartomatous polyp with HGD, one poorly differentiated adenocarcinoma and one atypical juvenile polyposis with tubulovillous adenoma, HGD and field cancerization invading the muscularis mucosae and submucosa. There were no stent-related complications, but one papillectomy-related complication (mild acute pancreatitis) occurred without any episodes of bleeding, perforation, cholangitis or late-onset duct stenosis. CONCLUSION: For patients with exposure or injury of the muscularis propria after EP, the placement of overlength biliary and pancreatic stents is a feasible and useful technique to prevent delayed perforation.

Ciliated Muconodular Papillary Tumors of the Lung: Distinct Molecular Features of an Insidious Tumor.

INTRODUCTION: Ciliated muconodular papillary tumors (CMPTs) are rare special peripheral pulmonary nodule composed of different cell proportions, characterized by papillary structures and significant alveolar mucus. Because of their rarity, underrecognized processes, the full range clinical course and histogenesis of CMPTs remains uncertain. METHODS: Molecular features of 5 CMPTs cases (one case with mucinous adenocarcinoma simultaneously) were observed by whole exon gene detection. The histological features of CMPTs and the development trends of three major constituent cells were studied by immunohistochemistry and PCR. RESULTS: NGS revealed 77 gene mutations in the patient's tumor tissue and 31 mutations in the border tissue. TMB of CMPT tends to TMB of cancer tissues, and both are higher than normal tissues, CMPT share the same phylogenetic tree with cancer tissues. Moreover, PDL1, B7H3, and B7H4 were overexpressed in high columnar cells and eosinophilic ciliated cells of CMPT, tends to cancer tissues, while LAG3 and siglec15 were not found in CMPT. CONCLUSION: The high prevalence of driver gene mutations in CMPTs, similar TMB and phylogenetic tree with cancer tissues indicate their malignant potential. Distinct molecular and immune check point features of each component support the notion that ciliated columnar cells in CMPT are insidious with immune escape.

[The clinical characteristics and surgical management of ciliated muconodular papillary tumor].

Objective: To investigate the clinical characteristics and surgical management based on the clinical manifestation, pathological feature and the medical imaging finding of ciliated muconodular papillary tumor (CMPT). Methods: The data of clinical manifestation, pathological feature and the medical imaging finding of 15 patients with CMPT who received surgical treatment from January 2017 to April 2019 were collected and retrospectively analyzed. Results: CMPT generally occurred in the elderly people. Most of the diameter of the tumor was less than 1 cm, while the diameters of other 3 patient were 1~2 cm. The computed tomography (CT) scan of 9 patients displayed solid nodule, while 4 displayed ground glass opacity (GGO), and other 2 showed no significant abnormal. Thirteen patients received minimally invasive video-assisted thoracoscopic surgery (VATS), the other 2 received open surgery. Eight patients received lobectomy, 3 received thoracoscopic anatomical partial-lobectomy, 4 received wedge resection. The frozen section diagnostic results of 8 patients were adenocarcinoma, including 3 mucinous adenocarcinoma. Other 5 patients were diagnosed as CMPT and 2 were reported as infection nodule. During the perioperative period, 2 patients occurred cardiac arrhythmia, 1 occurred pulmonary infection. None of the patients had local recurrence or distant metastasis during the follow-up. Conclusions: CMPT usually presents as solitary peripheral lung nodules without obvious symptoms. Most CMPTs are incidentally detected by routine CT scan. Some of the cases are accompanied by primary lung cancer probably. Surgical treatment is the major therapy for CMPT. The imaging feature of CT scam usually shows a solid nodule or a GGO locates in peripheral pulmonary. Frozen section diagnosis for CMPTs can be easily confused with adenocarcinoma or mucinous adenocarcinoma.

Primary pineal tumors - Unraveling histological challenges and certain clinical myths.

BACKGROUND: Pineal gland tumors range from the well-differentiated "pineocytoma" [World Health Organization (WHO) grade I], which have a very good prognosis, to the aggressive and poorly differentiated "pineoblastoma" (WHO grade IV) with "pineal parenchymal tumor of intermediate differentiation" (PPTID; WHO grades II and III) occupying intermediary differentiation and prognosis. Papillary tumor of the pineal region (PTPR; WHO grades II and III) is a distinct entity with propensity for recurrence and spinal dissemination. However, the diagnostic criteria to differentiate these entities, especially between WHO grades II and III of both PPTID and PTPR, remain nebulous. OBJECTIVE: To evaluate the relative frequency of the individual entities and histomorphological (including the proliferation indices) features across the spectrum of pineal parenchymal tumors (PPTs) [including PTPRs] along their course. DESIGN: All cases of PPTs were retrieved, reviewed, and graded based on the histological criteria defined in the literature. RESULTS: PPTID, more commonly seen in young adults, was the most common subtype of PPT. This was followed by pineoblastoma which was more commonly seen in children. Clinical progression was seen in both grades II and III of PPTID; however, it was more commonly seen in cases with a MIB1 labeling index of >10%. PTPRs (both grades II and III) showed an aggressive histological transformation and also intraparenchymal metastasis. CONCLUSION: PPTIDs are the most common adult primary PPTs and have the potential to progress and disseminate in both grades II and III. Both grades of PTPRs have a metastatic potential. These findings suggest the need for postoperative adjuvant therapy in both grades of PPTID and PTPR.

Pancreatic Cystic Lesions: Pathogenesis and Malignant Potential.

Pancreatic cancer remains one of the most lethal cancers despite extensive research. Further understanding of precursor lesions may enhance the ability to treat and prevent pancreatic cancer. Pancreatic cystic lesions (PCLs) with malignant potential include: mucinous PCLs (intraductal papillary mucinous neoplasms and mucinous cystic neoplasm), solid pseudopapillary tumors and cystic neuroendocrine tumors. This review summarizes the latest literature describing what is known about the pathogenesis and malignant potential of these PCLs, including unique epidemiological, radiological, histological, genetic and molecular characteristics.

Frequent BRAF or EGFR Mutations in Ciliated Muconodular Papillary Tumors of the Lung.

INTRODUCTION: Ciliated muconodular papillary tumors (CMPTs) are recently characterized, rare peripheral nodules of the lung. These small tumors are histologically comprised of a vaguely organized mixture of nonatypical ciliated columnar cells, mucous cells, and basal cells, and consistently follow a benign clinical course. However, the histogenesis of CMPTs remains uncertain. METHODS: We performed detailed genomic analyses of 10 archived CMPT cases, using next-generation sequencing and high-resolution melting analysis. RESULTS: Mutations were identified in eight of the 10 cases (80%); four cases harbored the BRAF-V600E mutation, one case harbored the BRAF-G606R mutation, and three cases harbored deletions in exon 19 of EGFR. All of the deletions in EGFR were of the E746-T751/S752V subtype. CONCLUSIONS: The high prevalence of driver gene mutations in CMPTs supports the notion that these lesions are neoplastic rather than reactive or metaplastic.

Investigation of underestimated malignancy in patients with intraductal papillary tumors by core needle biopsy / 中华内分泌外科杂志

Objectives To calculate the rate of pathological underestimation for core needle biopsy (CNB)- diagnosed intraductal papillary tumors, to analyze the clinical and imaging data of patients and to dis-cuss factors for underestimation. Methods A retrospective analysis of patients undergoing core needle biopsy and subsequent surgical excision was performed. 1359 female patients undergoing CNB from Jan. 2010 to Feb. 2013 in Comprehensive Breast Health Center of Ruijin hospital were analyzed. Clinical, radiological and histo-logical variables were assessed using the Chi-square test, Fisher’s exact test and a binary logistic regression model in order to predict pathological underestimation for tumors. Results There were 50 patients with CNB-di-agnosed intraductal papillary tumors. The overall underestimation rate was about 44%(22/50). CNB-diagnosed atypical papillary lesions (OR=15.164, 95% CI 1.49-170.443) and BI-RADS 5 by MRI (OR=26.766, 95% CI 2.409-297.440)were significantly related to underestimation in these patients. Conclusions Considering the high underestimation rate in CNB-diagnosed intraductal papillary tumors, routine surgical excision should be per-formed to avoid potential malignancy, especially for patients with high risk factors. MRI is helpful in these pa-tients to predict underestimation.

Endoscopic management of adenomatous ampullary lesions.

Lesions of the ampulla of Vater represent an uncommon group of gastrointestinal malignancies. The majority of lesions of the ampulla of Vater are either adenomas or adenocarcinomas. Ampullary lesions are often incidental findings. Accurate preoperative diagnosis and staging of ampullary tumors is imperative for predicting prognosis and determining the most appropriate therapeutic approach. Endoscopic ampullectomy is a safe and efficacious therapeutic procedure that can obviate the need for potentially major surgical intervention. This review will provide the framework for the diagnosis and management of ampullary lesions from the perspective of the practicing gastroenterologist. Strategies for safe and successful endoscopic ampullectomy with a focus on accurate preoperative diagnosis and staging, resection technique, and management of complications are presented.

Diagnostic Accuracy of the Initial Endoscopy for Ampullary Tumors.

BACKGROUND/AIMS: Ampullary tumors come in a wide variety of malignant forms. We evaluated the diagnostic accuracy of endoscopy for ampullary tumors, and analyzed the causes of misdiagnosis. METHODS: We compared endoscopic imaging and biopsy results to final diagnoses. Types of endoscope, numbers of biopsy specimens taken, and final diagnoses were evaluated as possible factors influencing diagnostic accuracy. RESULTS: Final diagnoses were 19 adenocarcinomas, 18 normal or papillitis, 11 adenomas, two adenomyomas, one paraganglioma, and one neuroendocrine tumor. The diagnostic accuracy of endoscopic imaging or the initial biopsy was identical (67.3%). At least one test was concordant with the final diagnosis in all except two cases. Compared with the final diagnosis, endoscopic imaging tended to show more advanced tumors, whereas the initial biopsy revealed less advanced lesions. The diagnostic accuracy of the initial biopsy was influenced by the type of endoscope used and the final diagnosis, but not by the number of biopsies taken. CONCLUSIONS: Endoscopy has limited accuracy in the diagnosis of ampullary tumors. However, most cases with concordant endoscopic imaging and biopsy results are identical to the final diagnosis. Therefore, in cases where both of these tests disagree, re-evaluation with a side-viewing endoscope after resolution of papillitis is required.

Diagnostic Accuracy of the Initial Endoscopy for Ampullary Tumors

BACKGROUND/AIMS: Ampullary tumors come in a wide variety of malignant forms. We evaluated the diagnostic accuracy of endoscopy for ampullary tumors, and analyzed the causes of misdiagnosis. METHODS: We compared endoscopic imaging and biopsy results to final diagnoses. Types of endoscope, numbers of biopsy specimens taken, and final diagnoses were evaluated as possible factors influencing diagnostic accuracy. RESULTS: Final diagnoses were 19 adenocarcinomas, 18 normal or papillitis, 11 adenomas, two adenomyomas, one paraganglioma, and one neuroendocrine tumor. The diagnostic accuracy of endoscopic imaging or the initial biopsy was identical (67.3%). At least one test was concordant with the final diagnosis in all except two cases. Compared with the final diagnosis, endoscopic imaging tended to show more advanced tumors, whereas the initial biopsy revealed less advanced lesions. The diagnostic accuracy of the initial biopsy was influenced by the type of endoscope used and the final diagnosis, but not by the number of biopsies taken. CONCLUSIONS: Endoscopy has limited accuracy in the diagnosis of ampullary tumors. However, most cases with concordant endoscopic imaging and biopsy results are identical to the final diagnosis. Therefore, in cases where both of these tests disagree, re-evaluation with a side-viewing endoscope after resolution of papillitis is required.

Tumores quísticos del páncreas: visión quirúrgica y cohorte de pacientes / Cystic tumors of the pancreas: surgical vision and a patient cohort

Se presenta una cohorte retrospectiva de diez pacientes con tumores quísticos del páncreas, intervenidos en su mayoría – algunos por laparoscopia –, haciendo énfasis en su estudio, diagnóstico y tratamiento quirúrgico, mostrando algunas de las variables evaluadas en su manejo y con especial mención de su enfoque quirúrgico con base en una revisión sistemática de la literatura.

We present a retrospective study of a cohort of ten patients with cystic tumors of the pancreas, most of whom underwent surgery. The study emphasizes study, diagnosis, and treatment of the four who underwent laparoscopic surgery. It presents some of the variables analyzed in their management and pays special attention to their surgery treatment. A systematic review of the literature is also included.

Carcinoma neuroendocrino de papila de vater: Reporte de un caso y revisión de la literatura

Los tumores de la papila de Vater constituyen tumores de aparición inusual. Su incidencia es menor al 5% de los tumores del tracto gastrointestinal. La edad de aparición es variable siendo mayor entre los 50-70 años, predominando en el sexo masculino. Una incidencia menor lo constituyen los tumores neuroendocrinos de la ampolla, los cuales tienen aproximadamente 105 casos como reporte en la literatura mundial. Presentamos a un paciente masculino de 53 años de edad, quien consulta por pérdida de peso, dolor abdominal, ictericia obstructiva. Ultrasónido Abdominal y TAC abdomino pelvica: Hepatomegalia. LOEs hepáticos. Barro vesicular. Dilatación de vías biliares intra y extrahepáticas, LOE de cabeza de pancreas. Se le realiza duodeno pancreatectomia de Whipple con hemorragia digestiva a repetición. El estudio histológico mostró un carcinoma neuroendocrino de la papila duodenal, tipo I (epitelial) grado III.

Tumors of the papilla are unusual entities. The incidence is less than 5 % of all new digestive tract neoplasms. It may occur in all age groups, but they are more prevalent in people aged 50-70 years, a slight male predominance. Endocrine neoplasms have a less incidence and only 105 cases are reported in the literature. A case of a 53-year-old male with weight loss, abdominal pain, obstructive jaundice is reported. Abdominal ultrasonography showed hepatomegaly, hepatic lesions, biliary sludge, and pancreatic lesion with intra-extra hepatic biliary tract dilatation. He had a successive upper digestive bleeding, pancreaticoduodenectomy was performed. Histological evaluation showed neuroendocrine carcinoma of the ampulla of Vater, Type I (epithelial) Grade III.