Endoscopic ultrasound-guided fine-needle aspiration cytology in the diagnosis of leiomyomas of the gastrointestinal tract / Citología por aspiración con aguja fina guiada por ecografía endoscópica en el diagnóstico de los leiomiomas del tracto digestivo

We investigated the efficiency and accuracy of endoscopic ultrasound-guided fine-needle aspiration cytology (EUS-FNAC) in the diagnosis of gastrointestinal leiomyoma (GIL). Between January 2009 and May 2018 we performed 795 EUS-FNAC studies of lesions of the gastrointestinal (GI) tract for various clinical indications. A diagnosis of GIL by cytological and cell block study was made in 14 patients (57.1% males, mean age 53.6 years, range 22-84 years).7 tumors (50%) were detected incidentally. The lesions ranged in size from 2 to 10cm (mean size 4.4cm). The location of the tumors was: esophagus 7 (50%), stomach 6 (42.9%) and rectum 1(7.1%). The mean size of the symptomatic tumors was 5.2cm (range 3-10cm). The follow-up of the 14 patients varied from 1 to 108 months (median 39.5 months), during which no recurrence or evidence of lesion progression was observed. Imaging alone was not sufficient for an accurate diagnosis to be made. The pathological diagnosis was based on a combination of cytological, histopathological, and immunohistochemical features. The intracytoplasmic eosinophilic globule is a useful marker of paucicellular GIL differentiating it from gastrointestinal stromal tumor and leiomyosarcoma. EUS-FNAC is a reliable, accurate, and safe method for the diagnosis of GIL

Hemos investigado la eficacia y la precisión de la citología por aspiración con aguja fina guiada por ecografía endoscópica (EUS-FNAC) en el diagnóstico del leiomioma gastrointestinal (LGI). Entre enero de 2009 y mayo de 2018 se realizaron 795 estudios EUS-FNAC de lesiones del tracto digestivo por una variedad de indicaciones clínicas. Catorce pacientes (57,1% varones, edad media: 53,6 años, rango: 22-84 años) fueron diagnosticados mediante estudio citológico y de bloque celular de LGI. Siete tumores (50%) fueron detectados de manera incidental. Las lesiones variaron en tamaño de 2 a 10cm (tamaño promedio: 4,4cm). La localización de los tumores fue: esófago 7 (50%), estómago 6 (42,9%) y recto uno (7,1%). El tamaño medio de los tumores sintomáticos fue de 5,2cm (rango: 3-10cm). El seguimiento de los 14 pacientes varió de uno a 108 meses (mediana: 39,5 meses). No se observó recurrencia o evidencia de progresión de la lesión. El estudio de las imágenes radiológicas por sí solo no permitió diagnosticar la lesión. El diagnóstico patológico se basó en una combinación de datos citológicos, histopatológicos e inmunohistoquímicos. El glóbulo eosinofílico intracitoplasmático es un marcador útil de LGI paucicelular que permite diferenciarlo del tumor del estroma gastrointestinal y del leiomiosarcoma. La EUS-FNAC es un método fiable, preciso y seguro para el diagnóstico del LGI

Endoscopic ultrasound-guided fine-needle aspiration cytology in the diagnosis of leiomyomas of the gastrointestinal tract.

We investigated the efficiency and accuracy of endoscopic ultrasound-guided fine-needle aspiration cytology (EUS-FNAC) in the diagnosis of gastrointestinal leiomyoma (GIL). Between January 2009 and May 2018 we performed 795 EUS-FNAC studies of lesions of the gastrointestinal (GI) tract for various clinical indications. A diagnosis of GIL by cytological and cell block study was made in 14 patients (57.1% males, mean age 53.6 years, range 22-84 years). 7 tumors (50%) were detected incidentally. The lesions ranged in size from 2 to 10cm (mean size 4.4cm). The location of the tumors was: esophagus 7 (50%), stomach 6 (42.9%) and rectum 1(7.1%). The mean size of the symptomatic tumors was 5.2cm (range 3-10cm). The follow-up of the 14 patients varied from 1 to 108 months (median 39.5 months), during which no recurrence or evidence of lesion progression was observed. Imaging alone was not sufficient for an accurate diagnosis to be made. The pathological diagnosis was based on a combination of cytological, histopathological, and immunohistochemical features. The intracytoplasmic eosinophilic globule is a useful marker of paucicellular GIL differentiating it from gastrointestinal stromal tumor and leiomyosarcoma. EUS-FNAC is a reliable, accurate, and safe method for the diagnosis of GIL.

Intrapancreatic accessory spleen. Report of four cases diagnosed by ultrasound-guided fine-needle aspiration biopsy.

Intrapancreatic accessory spleen (IPAS) is a congenital anomaly usually misdiagnosed as a pancreatic neoplasm. For five years and four months, we collected seven IPASs located in the tail of the pancreas in four patients diagnosed by endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA). All cases had associated cell block preparations. Each patient underwent endoscopic ultrasound, computed tomography (CT), and magnetic resonance imaging (MRI) studies. The patients ranged in age from 57 to 73 years (mean age 65.7 years old). All lesions were well-defined, 1-1.9 cm in size (mean 1.5 cm). To our knowledge, a case with four IPASs in the tail of the gland has not been previously reported. Cytological features of IPAS included a polymorphous population of hematopoietic cells admixed with occasional blood vessels. Cell blocks comprised spleen red pulp. CD8 immunostaining of cell blocks highlighted splenic endothelial cells and confirmed the diagnosis. IPAS presented as an asymptomatic lesion detected on imaging studies. It may mimic a pancreatic neoplasm, mainly a neuroendocrine tumor. The use of EUS-FNA is an essential tool in the diagnosis of the lesion. The endothelial cells of the splenic sinuses characterized by their positivity for CD8 are evident in the sections of the cell blocks. This staining is considered specific and can be used as a confirmatory marker. EUS-FNA biopsy provides a reliable diagnosis that prevents unnecessary surgery.

Hereditary pancreatitis: clinical features and inheritance characteristics of the R122C mutation in the cationic trypsinogen gene (PRSS1) in six Spanish families.

CONTEXT: Hereditary pancreatitis is an autosomal dominant disease which is caused by mutations in the PRSS1 gene. OBJECTIVE: The aim of our study was to describe the penetrance and phenotype-genotype correlations of the c.346C>T (p.R122C) mutation. DESIGN: Case series descriptive study. PATIENTS: Forty-one members of six families from whom DNA samples were analyzed. MAIN OUTCOME MEASURES: In subjects with R122C mutation symptoms, pancreatic calcifications, main pancreatic duct changes, diabetes, steatorrhea, pancreatic cancer and surgery were recorded. RESULTS: The R122C mutation was detected in 22 of the 41 family members studied, and 7 men and 2 women developed pancreatic disease, resulting in a penetrance of 40.9%. One out of the 9 patients was excluded because she died before the mutation was detected. The mean age at symptom onset was 23.5 years (range: 4-51 years). Abdominal pain was present in 6 (75.0%) of the 8 patients with the R122C mutation who developed pancreatic disease. Calcifications had developed in 5 (62.5%) at a mean age of 35.8 years (range: 14-56 years). Five (62.5%) developed changes in the pancreatic ducts at a mean age of 44.2 years (range: 19-65 years). Two patients (25.0%) developed steatorrhea during the follow-up at 26 and 35 years of disease progression. Diabetes developed in five patients (62.5%) at a mean age of 41.4 years old (range: 22-53 years). Three of the patients analyzed (37.5%) developed pancreatic cancer at 59 years of age, 63 years of age and 70 years of age. CONCLUSIONS: Penetrance of the R122C mutation is lower than that described for the R122H and N29I mutations, and there is a tendency toward a predominance of males with the R122C mutation who developed the phenotype of pancreatitis.