Although patients with surgically resected noninvasive mucinous cystic neoplasms (MCNs) of the pancreas are cured, the behavior of surgically resected minimally invasive adenocarcinomas arising in ...MCN has not been well established. We report 16 surgically resected MCNs with minimal invasion defined as unifocal or multifocal microscopic invasive adenocarcinoma confined to the ovarian stroma of the MCN without capsular or pancreatic parenchymal invasion. Pathologic findings were correlated with patient demographics, type of surgery, and long-term follow-up. Our study included 15 women and 1 man ranging in age from 25 to 66 years. The patients were followed up for a mean of 48.6 months (range, 12 to 148 mo). The MCNs ranged in size from 3.5 to 25 cm and were all located in the body/tail of the gland. Lymphovascular invasion was not identified in any of the cases, and all lymph nodes were negative for tumor. Ten neoplasms had unifocal invasion, whereas 6 had multifocal invasion. Twelve of the neoplasms were partially submitted for microscopic examination, whereas 4 were submitted entirely. Only 1 of the 16 minimally invasive MCNs recurred, and that tumor had been lighlty sampled pathologically. Our study demonstrates that the majority of patients with minimally invasive adenocarcinoma arising in MCNs are cured by surgery, particularly if the neoplasms are completely examined histologically.
Pancreatic cytopathology plays an important role in the diagnosis and management of patients with solid and cystic lesions of the pancreas.
To serve as a practical guide to pancreatic cytopathology ...for the practicing pathologist. Data Sources.-A comprehensive assessment of the medical literature was performed.
We review pancreatic cytopathology, with specific discussions of its role in patient management, specimen types and specimen processing, specific diagnostic criteria, and the use of ancillary testing and advanced techniques.
Undifferentiated carcinomas of the upper aerodigestive tract (UCUAT) occur most frequently within the nasopharynx and are most often associated with infection by Epstein-Barr virus (EBV) (WHO ...undifferentiated nonkeratinizing squamous cell carcinoma). An unusual group of aggressive carcinomas are characterized by translocations that involve Nuclear Protein in Testis (NUT), a novel gene on chromosome 15. In about two-thirds of cases, NUT is fused to BRD4 on chromosome 19. These tumors, here termed NUT midline carcinomas (NMCs), are undifferentiated, may have focal squamous differentiation, and are reported to occur in children and young adults. This study investigates the prevalence of NUT rearrangement and the diagnostic significance of NUT expression in a series of upper aerodigestive tract undifferentiated carcinomas. The histologic features of these tumors are described in detail.
All UCUAT not associated with EBV infection seen at the University of Virginia (UVA) over a 16-year period were reviewed. Clinical and histologic features were noted. Additional material was submitted for fluorescent in situ hybridization (FISH) using split-apart probes to the NUT and BRD4 genes. Immunohistochemistry (IHC) was performed on all cases using a polyclonal antibody to NUT, and on select cases with antibody to p63.
Thirty-one UCUAT were identified. Twenty-five tumors had originally been diagnosed as sinonasal undifferentiated carcinomas. Five of 28 cases (2 males, 3 females; average age 47; range 31 to 78) with interpretable results showed rearrangements of the NUT and BRD4 genes by FISH. Three of these 5 cases showed diffuse (>90%) nuclear staining for NUT by IHC; 22 of 23 other tumors showed at most focal (<50%) nuclear staining. Undifferentiated carcinomas with NUT gene rearrangement had focal abrupt squamous differentiation in 2 cases, and intense and diffuse immunoreactivity with antibody to p63 in 4 cases.
Approximately, 20% of UCUAT not associated with EBV infection were found to have rearrangements of NUT by FISH. Although previous reports suggest that NMCs afflict only children and young adults, 4 of 5 of the patients described are mature adults older than any heretofore reported, suggesting that previous reports may have been biased in their case selections. Furthermore, because these tumors are indistinguishable from other poorly differentiated carcinomas, IHC using NUT antibody may be a useful method for the identification of these tumors. Despite the lack of overt squamous differentiation in most cases, their p63 immunoreactivity suggests that NMCs may generally be of squamous lineage.
Background
The small bowel and pancreas are the most common primary sites of neuroendocrine tumors (NETs) giving rise to metastatic disease. Some patients with small bowel NETs (SBNETs) present with ...synchronous or metachronous pancreatic NETs (PNETs), and it is unclear whether these are separate primaries or metastases from one site to the other.
Methods
A surgical NET database including patients undergoing operations for SBNETs or PNETs was reviewed. Patients with synchronous or metachronous tumors in both the small bowel and pancreas were identified, and available tissues from primary tumors and metastases were examined using a 4-gene quantitative polymerase chain reaction (qPCR) and immunohistochemistry (IHC) panel developed for evaluating NETs of unknown primary.
Results
Of 338 patients undergoing exploration, 11 had NETs in both the small bowel and pancreas. Tissues from 11 small bowel tumors, 9 pancreatic tumors, and 10 metastases were analyzed. qPCR and IHC data revealed that three patients had separate SBNET and PNET primaries, and five patients had SBNETs that metastasized to the pancreas. Pancreatic tissue was unavailable in two patients, and qPCR and IHC gave discrepant results in one patient.
Conclusions
NETs in both the small bowel and pancreas were found in 3% of our patients. In nearly two-thirds of evaluable patients, the pancreatic tumor was a metastasis from the SBNET primary, while in the remaining one-third of patients it represented a separate primary. Determining the origin of these tumors can help guide the choice of systemic therapy and surgical management.
Extramedullary hematopoiesis is the proliferation of hematopoietic cells outside bone marrow secondary to marrow hematopoiesis failure. Extramedullary hematopoiesis rarely presents as a mass-forming ...hepatic lesion; in this case, imaging-based differentiation from primary and metastatic hepatic neoplasms is difficult, often leading to biopsy for definitive diagnosis. We report a case of tumefactive hepatic extramedullary hematopoiesis in the setting of myelodysplastic syndrome with concurrent hepatic iron overload, and the role of T2*-weighted gradient-echo magnetic resonance imaging in differentiating extramedullary hematopoiesis from primary and metastatic hepatic lesions. To the best of our knowledge, T2*-weighted gradient-echo evaluation of extramedullary hematopoiesis in the setting of diffuse hepatic hemochromatosis has not been previously described.
A 52-year-old white man with myelodysplastic syndrome and marrow fibrosis was found to have a 4 cm hepatic lesion on ultrasound during workup for bone marrow transplantation. Magnetic resonance imaging revealed diffuse hepatic iron overload and non-visualization of the lesion on T2* gradient-echo sequence suggesting the presence of iron deposition within the lesion similar to that in background hepatic parenchyma. Subsequent ultrasound-guided biopsy of the lesion revealed extramedullary hematopoiesis. Six months later, while still being evaluated for bone marrow transplant, our patient was found to have poor pulmonary function tests. Follow-up computed tomography angiogram showed a mass within his right main pulmonary artery. Bronchoscopic biopsy of this mass once again revealed extramedullary hematopoiesis. He received radiation therapy to his chest. However, 2 weeks later, he developed mediastinal hematoma and died shortly afterward, secondary to respiratory arrest.
Mass-forming extramedullary hematopoiesis is rare; however, our report emphasizes that it needs to be considered in the initial differential diagnosis of hepatic lesions arising in the setting of bone marrow disorders. We also show that in the setting of diffuse hepatic iron overload, tumefactive extramedullary hematopoiesis appeared isointense to background liver on T2* gradient-echo sequence, while adenoma, hepatoma, and hepatic metastasis appear hyperintense. Thus, T2*-weighted gradient-echo sequence may have a potential role in the imaging diagnosis of mass-forming hepatic extramedullary hematopoiesis arising in the setting of diffuse iron overload.
Expression of LEF1 in mantle cell lymphoma O'Malley, Dennis P.; Lee, John P.; Bellizzi, Andrew M.
Annals of diagnostic pathology,
February 2017, 2017-Feb, 2017-02-00, 20170201, Letnik:
26
Journal Article
Recenzirano
Small lymphocytic lymphoma/chronic lymphocytic leukemia (CLL/SLL) and mantle cell lymphoma (MCL) usually are distinctly different in regard to clinical presentation, morphology, immunophenotype and ...molecular/genetic findings. In spite of this, select cases may show overlapping characteristics and represent a diagnostic challenge. Recently LEF1 staining was identified as a fairly characteristic finding in CLL/SLL, with positivity identified in up to 95% of cases. LEF1 staining has not been reported as being present in cases of MCL, making this stain a useful tool in distinguishing these diagnoses. We identified an index case of MCL with cyclin D1 expression and the presence of the typical t(11;14) IGH-CCND1, which expressed LEF1. Subsequently, we assessed LEF1 immunohistochemical staining in a series of 23 cases of MCL, as confirmed by staining for cyclin D1 and/or SOX11. We found expression present in one additional case, and evaluated some published literature suggesting a frequency of 4–9% expression of LEF1 by MCL. LEF1 expression by immunohistochemistry in MCL is unusual but can be seen rarely, and could represent a potential diagnostic pitfall.
•LEF1 is expressed in up to 5-10% of mantle cell lymphoma•This may be a potential pitfall in the differential diagnosis of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) and mantle cell lymphoma.•LEF1 is expressed in most cases of CLL/SLL and in normal T cells.
Here, we discuss recent updates and a continuing controversy in the diagnosis and management of Barrett's esophagus, specifically the recommendation that the irregular Z‐line not be biopsied, the ...diminished status of ultrashort‐segment Barrett's esophagus, the evidence basis for excluding and including the requirement of goblet cells for the diagnosis of Barrett's esophagus, and the conclusion that histologically confirmed low‐grade dysplasia is best managed with endoscopic ablation rather than surveillance. We reference the American Gastroenterological Association and College of Gastroenterology and the British Society of Gastroenterology guidelines throughout, with the thesis that the field is converging on the concept of applying scarce medical resources to the diagnosis, surveillance, and therapy of patients most likely to derive benefit.
Small bowel neuroendocrine tumors (SBNETs) present frequently with metastases, yet little is known about the molecular basis of this progression. This study sought to identify the serial differential ...expression of genes between normal small bowel, primary small bowel neuroendocrine tumors, and liver metastases.
RNA isolated from matched normal small bowel tissue, primary small bowel neuroendocrine tumors, and liver metastases in 12 patients was analyzed with whole transcriptome expression microarrays and RNA-Seq. Changes in gene expression between primary small bowel neuroendocrine tumors and normal small bowels, and liver metastases versus primary small bowel neuroendocrine tumors were calculated. Common genes that were differentially expressed serially (increasing or decreasing from normal small bowel to primary small bowel neuroendocrine tumors to liver metastases) were identified, and 10 were validated using qPCR.
Use of 2 transcriptome platforms allowed for a robust discrimination of genes important in small bowel neuroendocrine tumors progression. Serial differential expression was validated in 7/10 genes, all of which had been described previously in abdominal cancers, and with several interacting with members of the AKT, MYC, or MAPK3 pathways. Liver metastases had consistent underexpression of PMP22, while high expression of SERPINA10 and SYT13 was characteristic of both pSBTs and liver metastases.
Identification of the serial differential expression of genes from normal tissues to primary tumors to metastases lends insight into important pathways for SBNETs progression. Differential expression of various genes, including PMP22, SYT13 and SERPINA10, are associated with the progression of SBNETs and warrant further investigation.
PDF
