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Cryptogenic multifocal ulcerating stenosing enteropathy is a rare idiopathic small bowel enteropathy characterized by multiple small intestinal strictures and superficial ulcerations, often with clubbing. We present a case of a 25-year-old man who originally initially presented with small bowel obstruction believed to be secondary to suspected Crohn's disease who was ultimately diagnosed with cryptogenic multifocal ulcerating stenosing enteropathy.
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Mucinous neoplasms are commonly seen in the ovaries and pancreas. Their occurrence in the retroperitoneum is uncommon. We present a case of a retroperitoneal mucinous cystadenocarcinoma in a 54-year-old female who presented with right flank pain. Imaging demonstrated an 8.6 × 7.9 cm mass at the anterior surface of the lower pole of the right kidney, suspicious for renal cell carcinoma. Serum tumor markers carbohydrate antigen 19-9 (CA 19-9) and cancer embryonic antigen (CEA) were within normal limits, and cancer antigen 125 (CA 125) was elevated. Surgical resection of the mass was performed. Intraoperatively, the mass was noted to lie in the retroperitoneum, unattached to the kidney. On gross examination, a 10.0 × 7.0 × 7.0 cm unilocular cystic structure with red-brown mucoid material was present. The inner lining was mostly smooth with areas of excrescences, covering less than 5% of the surface area. Microscopic examination showed cystic areas lined by mucinous epithelium with an underlying ovarian-type stroma. Solid areas showed features of a borderline papillary mucinous tumor with invasive carcinoma. A diagnosis of mucinous cystadenocarcinoma was made. Their occurrence in the retroperitoneum is unusual. Although rare, this entity should always be considered in the differential diagnosis of retroperitoneal cystic lesions.
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Myofibroblastoma is a rare benign mesenchymal tumor first described in the breast. It is also known as mammary-type myofibroblastoma outside of the breast, more frequently located along the embryonic milk line. Exceptionally, myofibroblastoma can occur at visceral locations. We present a case of myofibroblastoma detected incidentally in the liver. A well-circumscribed mass, grossly measuring 6.2â cm in the liver parenchyma, was found on imaging studies. Histologically, the lesion is characterized by benign spindle cells in a hyalinized collagenous stroma, with positive staining for SMA and ER, focal positivity for CD34, negative for desmin, and loss of RB1. This rare tumor at such an unusual location makes it diagnostically challenging, especially on core biopsy of the lesion. To our knowledge, this is the second case of myofibroblastoma in the liver reported in the English literature and the first such case with a detailed pathology description.
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Biomarcadores de Tumor , Neoplasias de Tejido Muscular , Humanos , Inmunohistoquímica , Neoplasias de Tejido Muscular/diagnóstico , Neoplasias de Tejido Muscular/cirugía , Neoplasias de Tejido Muscular/patología , Mama/patología , Hígado/patologíaRESUMEN
INTRODUCTION: Inflammation in eosinophilic esophagitis (EoE) often leads to esophageal strictures. Evaluating esophageal narrowing is clinically challenging. We evaluated esophageal distensibility as related to disease activity, fibrosis, and dysphagia. METHODS: Adult patients with and without EoE underwent endoscopy and distensibility measurements. Histology, distensibility, and symptoms were analyzed. RESULTS: Patients with EoE had significantly lower distensibilities than controls. We found a cohort with esophageal diameter under 15 mm despite lack of dysphagia. DISCUSSION: This study raises concern that current assessments of fibrostenosis are suboptimal. We describe a cohort with unrecognized slender esophagus that were identified through impedance planimetry measurements. This tool provides additional information beyond symptomatic, histologic, and endoscopic assessments.
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Trastornos de Deglución , Esofagitis Eosinofílica , Estenosis Esofágica , Adulto , Humanos , Esofagitis Eosinofílica/complicaciones , Esofagitis Eosinofílica/diagnóstico , Esofagitis Eosinofílica/patología , Trastornos de Deglución/diagnóstico , Trastornos de Deglución/etiología , Estenosis Esofágica/diagnóstico , Estenosis Esofágica/etiología , Estenosis Esofágica/patología , Endoscopía GastrointestinalRESUMEN
INTRODUCTION: At present, GATA binding protein 3 (GATA-3) is the most frequently used diagnostic immunohistochemical (IHC) marker for breast carcinoma (BC). However, it is not specific and has very low sensitivity for triple-negative BC (TNBC). SRY-box transcription factor 10 (SOX-10) and trichorhinophalangeal syndrome type 1 (TRPS-1) have been suggested for inclusion in the diagnostic workup of TNBC. TRPS-1 has not been established in cytology specimens as a diagnostic IHC marker for metastatic BC (MBC). Hence, in the present study we evaluated the utility of TRPS-1 in diagnosing MBC in cytology specimens. MATERIALS AND METHODS: MBC cases diagnosed on cytology specimens from January to October 2020 were included in the present study. Only cases with hormonal status available and ≥20 tumor cells on cell blocks were included in the study. The cell blocks were assessed for TRPS-1, GATA-3, and SOX-10 IHC marker positivity (intensity and percentage of tumor cells). The results were correlated with the specimen type (fine needle aspiration [FNA] versus body fluid) and various BC prognostic subgroups. RESULTS: We analyzed 61 cases, including 33 body fluid and 28 FNA (13 lymph node, 10 bone, 2 liver, 2 soft tissue, and 1 lung) specimens. TRPS-1 had 97.2% positivity in ER/PR+ (estrogen receptor/progesterone receptor-positive) MBC compared with GATA-3, which had 100% positivity in the same group. TRPS-1 showed high positivity in 35 of 37 cases (94.6%) and intermediate positivity in 1 (2.6%) and was negative/low positive in 1 case (2.7%). In contrast, GATA-3 showed high positivity for all 37 cases (100%). SOX-10 showed positivity in only 1 of 37 cases (2.7%), with intermediate positivity. In the HER2+ (human epidermal growth factor receptor 2-positive) group, TRPS-1 showed high positivity in 5 of 7 cases (71.4%), intermediate positivity in 1 case (14.3%), and negativity in 1 case (14.3%). However, GATA-3 showed high positivity in 6 of 7 cases (85.7%) and negative/low positivity in 1 case (14.3%). SOX-10 was negative in all 7 cases. In TNBC, TRPS-1 showed high positivity in 16 of 17 cases (94%) and intermediate positivity in 1 (5.9%), and GATA-3 showed high positivity in 9 (53%), intermediate positivity in 2 (11.8%), and low positive/negative in 6 of the 17 cases (35.3%). TRPS-1 expression was significantly higher than GATA-3 expression for the number of positive cases (P = 0.07), mean percentage of positive tumor cells (P = 0.005), and intensity of reactivity (P = 0.005). SOX-10 expression was present in only 5 of 17 cases (29%), with a mean percentage of positivity in the tumor cells of 26.5% and intensity of 0.8. No differences were found in the IHC results between the different specimen types (FNA versus fluid) in any group. CONCLUSIONS: TRPS-1 is a highly sensitive new diagnostic IHC marker for breast carcinoma, with a similar positivity rate in ER/PR+ and HER2+ BC compared with GATA-3 and a higher positivity rate than GATA-3 and SOX-10 in TNBC in cytology specimens. In particular, when only a few clusters of tumor cells are present on the cell block, TRPS-1 can be highly useful, because its mean percentage of positive tumor cells and intensity are higher than those of other IHC markers.
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Receptores de Progesterona , Neoplasias de la Mama Triple Negativas , Humanos , Biomarcadores de Tumor/metabolismo , Inmunohistoquímica , Receptores de Estrógenos/metabolismo , Receptores de Progesterona/metabolismoRESUMEN
Individuals with cystic fibrosis (CF) have an increased risk for gallbladder abnormalities and biliary tract disease, but the reported incidence of these manifestations of CF varies widely in the literature. With the approval of elexacaftor/tezacaftor/ivacaftor (ELX/TEZ/IVA), increasing numbers of CF patients have been initiated on highly effective cystic fibrosis transmembrane regulator (CFTR) modulator therapy. While elevations in hepatic panel are known potential side effects of CFTR modulators, there have been no published cases of biliary disease or acute cholecystitis attributed to these medications. In this case series, we describe seven patients at two adult CF centers with biliary colic shortly after initiation with ELX/TEZ/IVA, six of whom required cholecystectomy.
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Enfermedades de las Vías Biliares/inducido químicamente , Enfermedades de las Vías Biliares/cirugía , Agonistas de los Canales de Cloruro/efectos adversos , Colecistectomía , Fibrosis Quística/tratamiento farmacológico , Adulto , Aminofenoles/efectos adversos , Benzodioxoles/efectos adversos , Combinación de Medicamentos , Femenino , Humanos , Indoles/efectos adversos , Masculino , Pirazoles/efectos adversos , Piridinas/efectos adversos , Pirrolidinas/efectos adversos , Quinolonas/efectos adversosRESUMEN
CONTEXT.: Squamous lesions of the esophagus encompass a spectrum of disorders ranging from reactive changes and benign papilloma to squamous dysplasia and squamous cell carcinoma, which may pose diagnostic challenges especially in superficial biopsies. OBJECTIVE.: To provide a review on the typical features of squamous neoplasia in the esophagus, with an emphasis on the key diagnostic features as well as differential diagnosis from mimicking lesions. DATA SOURCES.: Data sources include published peer-reviewed literature and personal experiences of the authors. CONCLUSIONS.: Accurate diagnosis of squamous neoplasia requires adherence to established diagnostic criteria, attention to subtle histologic features, and correlation with clinical and imaging findings. In difficult cases, multiple biopsies may be necessary to reach a definitive diagnosis.
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Neoplasias Esofágicas/diagnóstico , Neoplasias Esofágicas/patología , Esófago/patología , Neoplasias de Células Escamosas/diagnóstico , Neoplasias de Células Escamosas/patología , Biopsia , Diagnóstico Diferencial , HumanosRESUMEN
BACKGROUND: The Milan System for Reporting Salivary Gland Cytopathology (MSRSGC) is based on risk stratification. Our study is a retrospective review of salivary gland fine needle aspiration cytology (FNAC) with the goal of determining the risk of malignancy (ROM) in each of the categories proposed by the MSRSGC. METHODS: FNAC of salivary gland lesions with corresponding surgical resection specimens were retrieved over a 5-year period. Metastatic tumors were excluded. BothFNAC and corresponding surgical resections were reviewed blindly and classified as per criteria published by the MSRSGC. The ROM for each of the diagnostic categories was determined and compared with the ROM published by the MSRSGC. RESULTS: The total number of entities and ROM in 199 reviewed cases were as follows: Nondiagnostic 18 (9.2%) (ROM 0%), non-neoplastic 4(2%) (ROM 0%), atypia of undetermined significance (AUS) 12(6%) (ROM 33%), benign neoplasm 118(59.2%) (ROM 0.8%), salivary gland neoplasm of uncertain malignant potential (SUMP) 22(11%) (ROM 40.9%), suspicious for malignancy 3(1.5%) (ROM 100%), malignant 22(11%) (ROM 100%). CONCLUSION: The ROM reported in our study was mostly concordant with ROM published by the MSRSGC. This classification is helpful for the management of categories; nondiagnostic, non-neoplastic, benign neoplasm, suspicious for malignancy and malignant. The management is not standardized for the category, salivary gland neoplasm of uncertain malignant potential, as clinical information plays an important role in planning surgical procedures at an individual basis. Further studies will need to be performed using this new classification to help define appropriate management and predict ROM more accurately.
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Enfermedades de las Glándulas Salivales/clasificación , Enfermedades de las Glándulas Salivales/patología , Neoplasias de las Glándulas Salivales/clasificación , Neoplasias de las Glándulas Salivales/patología , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Factores de RiesgoRESUMEN
OBJECTIVE: Amyloidomas are tumor-like deposits of amyloid. Amyloidoma of the gastrointestinal tract is rare. To the best of our knowledge, this is the first instance of diagnosis of an amyloidoma in the gastrointestinal tract by fine needle aspiration (FNA). STUDY DESIGN: We report a case of a 64-year-old male with a history of ulcerative colitis and primary sclerosing cholangitis who was incidentally found to have a mass in the stomach wall. RESULTS: Initially thought to be gastrointestinal stromal tumor, FNA demonstrated the lesion to be amyloidoma with a prominent giant cell reaction. This was further confirmed by mass spectrometry. This is the only case report of diagnosis of a gastric amyloidoma by FNA. CONCLUSION: The presence of a florid giant cell reaction in the absence of ulceration or an inflammatory or neoplastic lesion should alert the pathologist to the possibility of an amyloidoma. This is the only case report of diagnosis of a gastric amyloidoma by FNA.
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Amiloidosis/diagnóstico , Gastropatías/diagnóstico , Estómago/patología , Biopsia con Aguja Fina , Humanos , Masculino , Persona de Mediana EdadRESUMEN
A 32-year-old male presented with a right thumb lesion of 11-month duration. A clinical diagnosis of pyogenic granuloma was entertained but the lesion failed to respond to conservative therapy and eventually necessitated amputation of his thumb. MRI of the right thumb showed an ill-defined, heterogeneously enhancing, infiltrating mass within the dorsal soft tissues abutting the distal phalanx and measuring 4.2 × 2.4 × 0.7 cm. Histologically, the tumor was composed of a high-grade osteosarcoma with a chondrosarcomatous component localized within the underlying bone and a more superficial spindle cell component in the overlying soft tissue. The epidermis was focally ulcerated overlying the lesion. The key to the diagnosis was provided by intense staining of the spindle cell component for S100 protein indicative of a spindle cell melanoma. The presence of an associated osteogenic sarcomatous component established a final diagnosis of osteogenic melanoma. The localization of this element to phalangeal bone is distinctly unusual and resulted in the close resemblance to a primary osteogenic sarcoma.
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Condrosarcoma/patología , Condrosarcoma/cirugía , Imagen por Resonancia Magnética , Melanoma/patología , Melanoma/cirugía , Pulgar/patología , Pulgar/cirugía , Adulto , Amputación Quirúrgica , Diagnóstico Diferencial , Humanos , Masculino , Osteosarcoma/patologíaRESUMEN
We report a case of a 23-year-old female with pain and fullness in the right popliteal fossa. An MRI scan demonstrated an ossified enhancing soft tissue mass. Evaluation of the resected specimen showed a high-grade extraskeletal osteosarcoma juxtaposed to the three zones of myositis ossificans. At 1-year follow-up the patient is alive and disease free. A review of the literature purporting to document such an association failed to demonstrate a single case in which an osteosarcoma and MO with its zonal architecture co-existed.
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Articulación de la Rodilla/diagnóstico por imagen , Imagen por Resonancia Magnética/métodos , Miositis Osificante/diagnóstico por imagen , Miositis Osificante/patología , Osteosarcoma/diagnóstico por imagen , Osteosarcoma/patología , Neoplasias de los Tejidos Blandos/diagnóstico por imagen , Neoplasias de los Tejidos Blandos/patología , Diagnóstico Diferencial , Femenino , Humanos , Miositis Osificante/cirugía , Clasificación del Tumor , Osteosarcoma/cirugía , Neoplasias de los Tejidos Blandos/cirugía , Adulto JovenRESUMEN
BACKGROUND: Urine cytology is the most frequently utilized test to detect urothelial cancer. Secondary bladder neoplasms need to be recognized as this impacts patient management. We report our experience on nonurothelial malignancies (NUM) detected in urine cytology over a 10-year period. METHODS: A 10-year retrospective search for patients with biopsy-proven NUM to the urothelial tract yielded 25 urine samples from 14 patients. Two cytopathologists blinded to the original cytology diagnosis reviewed the cytology and histology slides. The incidence, cytomorphologic features, diagnostic accuracy, factors influencing the diagnostic accuracy, and clinical impact of the cytology result were studied. RESULTS: The incidence of NUM was <1%. The male:female ratio was 1.3. An abnormality was detected in 60% of the cases; however, in only 4% of the cases, a primary site was identified accurately. Of the false negatives, 96% was deemed as sampling errors and 4% was interpretational. Patient management was not impacted in any of the false-negative cases due to concurrent or past tissue diagnosis. CONCLUSION: Colon cancer was the most frequent secondary tumor. Sampling error attributed to the false-negative results. Necrosis and dirty background was often associated with metastatic lesions from colon. Obtaining history of a primary tumor elsewhere was a key factor in diagnosis of a metastatic lesion. Hematopoietic malignancies remain to be a diagnostic challenge. Cytospin preparations were superior for evaluating nuclear detail and background material as opposed to monolayer (Thinprep) technology. Diagnostic accuracy was improved by obtaining immunohistochemistry. Diagn. Cytopathol. 2016. © 2016 Wiley Periodicals, Inc. Diagn. Cytopathol. 2017;45:22-28. © 2016 Wiley Periodicals, Inc.
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Biomarcadores de Tumor/orina , Neoplasias Colorrectales/patología , Errores Diagnósticos/estadística & datos numéricos , Linfoma/patología , Melanoma/patología , Neoplasias de la Próstata/patología , Orina/citología , Neoplasias Colorrectales/orina , Femenino , Humanos , Linfoma/orina , Masculino , Melanoma/orina , Sistemas Multiinstitucionales/estadística & datos numéricos , Neoplasias de la Próstata/orinaRESUMEN
BACKGROUND: Intraductal tubulopapillary neoplasm of the pancreas (ITPN) is a rare tumor which was first described in 2009. We report a case with cytologic and histologic findings and discuss the pitfalls in diagnosing this entity on cytology. CASE: An 82-year-old female presented with a pancreatic body mass measuring 3.3 cm. Endoscopic ultrasound-guided fine-needle aspiration showed cells in cohesive clusters with high-grade nuclear atypia. Immunohistochemistry (IHC) showed the neoplastic cells to be positive for CK19, CD56 and chromogranin (focal). Ki-67 was high at 50-60%, and chymotrypsin was negative. On the basis of this pattern of staining, the cytologic diagnosis rendered was 'favors high-grade neuroendocrine carcinoma'. Distal pancreatic resection revealed a cystic 4-cm mass. Histologically, the tumor was seen arising from the duct with a solid growth pattern, tubule formation and papillary structures. IHC showed the tumor to be negative for chromogranin, synaptophysin, CD56, trypsin and chymotrypsin. The Ki-67 index was 70%. The final diagnosis was noninvasive ITPN. CONCLUSION: We review the literature and discuss the cytomorphologic features and IHC patterns characteristic of this new entity on cytology material in addition to the pitfalls of the cytologic diagnosis.