Diagnostic Accuracy of Highest-Grade or Predominant Histological Differentiation of T1 Colorectal Cancer in Predicting Lymph Node Metastasis: A Systematic Review and Meta-Analysis.

INTRODUCTION: Treatment guidelines for colorectal cancer (CRC) suggest 2 classifications for histological differentiation-highest grade and predominant. However, the optimal predictor of lymph node metastasis (LNM) in T1 CRC remains unknown. This systematic review aimed to evaluate the impact of the use of highest-grade or predominant differentiation on LNM determination in T1 CRC. METHODS: The study protocol is registered in the International Prospective Register of Systematic Reviews (PROSPERO, registration number: CRD42023416971) and was published in OSF ( https://osf.io/TMAUN/ ) on April 13, 2023. We searched 5 electronic databases for studies assessing the diagnostic accuracy of highest-grade or predominant differentiation to determine LNM in T1 CRC. The outcomes were sensitivity and specificity. We simulated 100 cases with T1 CRC, with an LNM incidence of 11.2%, to calculate the differences in false positives and negatives between the highest-grade and predominant differentiations using a bootstrap method. RESULTS: In 42 studies involving 41,290 patients, the differentiation classification had a pooled sensitivity of 0.18 (95% confidence interval [CI] 0.13-0.24) and 0.06 (95% CI 0.04-0.09) ( P < 0.0001) and specificity of 0.95 (95% CI 0.93-0.96) and 0.98 (95% CI 0.97-0.99) ( P < 0.0001) for the highest-grade and predominant differentiations, respectively. In the simulation, the differences in false positives and negatives between the highest-grade and predominant differentiations were 3.0% (range 1.6-4.4) and -1.3% (range -2.0 to -0.7), respectively. DISCUSSION: Highest-grade differentiation may reduce the risk of misclassifying cases with LNM as negative, whereas predominant differentiation may prevent unnecessary surgeries. Further studies should examine differentiation classification using other predictive factors.

Primary Rectal Tumor With Extensive Choriocarcinoma Differentiation in a Woman With Lung, Liver and Disseminated Peritoneal Disease: A Primary Rectal Adenocarcinoma With Extensive Choriocarcinoma Differentiation or Primary Rectal Choriocarcinoma?

Primary rectal adenocarcinoma with extensive choriocarcinomatous differentiation is a rare neoplasm, with only sporadic cases reported worldwide. The prognosis is typically poor, and no standard therapy has been established for this tumor. We report a case of a 63-year-old woman who presented with lower abdominal and pelvic discomfort, as well as rectal bleeding. Endoscopy revealed a rectal tumor. She was diagnosed with primary rectal adenocarcinoma with extensive choriocarcinomatous differentiation, accompanied by liver metastasis and peritoneal carcinomatosis. The immunohistochemical profile demonstrated strong and diffuse positivity for keratin (AE1/AE3), beta-human chorionic gonadotropin (ß-HCG), p53, MYC, p16, and Ki-67. Molecular analysis indicated mutations in KRAS, TP53, and PI3KCA. Despite the tumor's profile, the serum ß-HCG level was not elevated. A chemotherapy regimen for metastatic colorectal adenocarcinoma was initiated, but there was a poor response, with rapid tumor progression. The patient survived for only 5 months postdiagnosis. We discuss the histopathological, immunohistochemical, and molecular findings, emphasizing their relevance to the differential diagnosis of neoplasms with choriocarcinomatous differentiation.

A Tetra-Panel of Serum Circulating miRNAs for the Diagnosis of the Four Most Prevalent Tumor Types.

The purpose of this study is to clinically validate a series of circulating miRNAs that distinguish between the 4 most prevalent tumor types (lung cancer (LC); breast cancer (BC); colorectal cancer (CRC); and prostate cancer (PCa)) and healthy donors (HDs). A total of 18 miRNAs and 3 housekeeping miRNA genes were evaluated by qRT-PCR on RNA extracted from serum of cancer patients, 44 LC, 45 BC, 27 CRC, and 40 PCa, and on 45 HDs. The cancer detection performance of the miRNA expression levels was evaluated by studying the area under the curve (AUC) of receiver operating characteristic (ROC) curves at univariate and multivariate levels. miR-21 was significantly overexpressed in all cancer types compared with HDs, with accuracy of 67.5% (p = 0.001) for all 4 tumor types and of 80.8% (p < 0.0001) when PCa cases were removed from the analysis. For each tumor type, a panel of miRNAs was defined that provided cancer-detection accuracies of 91%, 94%, 89%, and 77%, respectively. In conclusion, we have described a series of circulating miRNAs that define different tumor types with a very high diagnostic performance. These panels of miRNAs would constitute the basis of different approaches of cancer-detection systems for which clinical utility should be validated in prospective cohorts.

Pancreatic adenosquamous carcinoma and intraductal papillary mucinous neoplasm in a CDKN2A germline mutation carrier.

A 69-year-old woman from a kindred with familial atypical multiple mole melanoma and carrier of a germline mutation in CDKN2A, presented with abdominal pain caused by a solid-cystic pancreatic mass. The patient had an abdominal computed tomography three years before in which there was no evidence of pancreatic lesion. The endoscopic ultrasound guided fine needle aspiration showed adenocarcinoma with squamous component. After surgical resection the final diagnosis was adenosquamous pancreatic carcinoma (ASPC) arising in an intraductal papillar mucinous neoplasm (IPMN). Adenosquamous carcinomas are uncommon in the pancreas and have rarely been described in association with IPMNs. It has worse prognosis than the ordinary pancreatic ductal adenocarcinoma and some distinct features. We review the clinical, imaging, pathologic and molecular aspects of ASPC. Differential diagnosis with contamination, squamous metaplasia and pancreatic metastases from a distant squamous carcinoma is discussed. Besides, the case is an accelerated model of the adenoma (IPMN)-carcinoma sequence probably due to the CDKN2A germline mutation. Somatic CDKN2A mutations are common events in the early steps of sporadic pancreatic cancer, but germline mutation carriers have a significantly higher risk of pancreatic carcinoma.

Sprue-like enteropathy associated with olmesartan in a patient with villous atrophy, HLA-DQ2 genotype and antinuclear antibodies.

We describe a new case of enteropathy with villous atrophy in a patient suffering from arterial hypertension treated with olmesartan. The molecular and serological studies showed anti-nuclear antibodies (ANA) and haplotype HLA-DQ2 positive, as well as negative results for anti-transglutaminase, anti-endomysium and anti-enterocytes antibodies. A duodenal villous atrophy was suspected by upper gastrointestinal endoscopy, which was confirmed by histopathology. The morphological picture was suggestive of sprue-like enteropathy with severe lymphoid infiltration and predominant T lymphoid cells.

Enteropatía asociada a olmesartán con atrofia vellositaria en paciente con genotipo HLA-DQ2 y anticuerpos-antinucleares positivos / Sprue-like enteropathy associated with olmesartan in a patient with villous atrophy, HLA-DQ2 genotype and antinuclear antibodies

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Micrometástasis en ganglios peripancreáticos por carcinoma mamario en paciente con adenocarcinoma ductal pancreático / Peripancreatic lymph node micrometastases from a mammary carcinoma in a patient with pancreatic ductal adenocarcinoma

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[Histological factors predicting loco-regional lymph node metastasis in early invasive colorectal adenocarcinoma pT1]. / Estudio de factores histológicos predictivos de metástasis ganglionar locorregional en adenocarcinoma colorrectal mínimamente invasivo pT1.

INTRODUCTION: Endoscopic resection is the common treatment in pT1 colorectal adenocarcinoma whenever possible. The presence of adverse histological factors requires subsequent lymph node evaluation. MATERIALS AND METHODS: We selected 29 colorectal pT1 adenocarcinoma including endoscopic polypectomies and the corresponding surgical specimens. All histologic parameters associated with N+ were evaluated by 2 pathologists, including: tumor differentiation grade, depth of invasion in the submucosa, angiolymphatic invasion (ALI), perineural invasion, chronic inflammation, tumor budding, poorly differentiated cluster, pre-existing adenoma, tumor border, and endoscopic resection margin. Univariate and multivariate logistic regression analysis were performed to assess the individual capacity of each variable to predict N+. RESULTS: In the univariate analysis, rectal tumor localization, ALI and poorly differentiated cluster was significantly associated with N+. Among the significant parameters, ALI had the highest area under the ROC curve (0.875). Multivariate analysis showed no independent variables associated with N+. CONCLUSIONS: We confirm that ALI and the presence of poorly differentiated cluster are frequently associated with N+ in early colorectal cancer. Consequently, these parameters should be routinely evaluated by pathologists.

Tumores de células granulares múltiples en el tracto gastrointestinal / Multiple granular cell tumours of the gastrointestinal tract

Los tumores de células granulares (TCG) constituyen neoplasias que inusualmente afectan al tracto gastrointestinal. En el presente estudio describimos el caso de una mujer de 55 años de edad con TCG en el colon y el esófago con antecedentes de lesiones similares en partes blandas, piel y mama. El estudio por endoscopia reveló la presencia de lesiones nodulares submucosas en el colon sigmoide, el colon ascendente, el ciego y el esófago distal. Se realizó resección endoscópica y biopsia de las lesiones, demostrándose histológicamente la presencia de nódulos con abundantes células de apariencia histiocítica con abundante citoplasma eosinofílico y granular (PAS positivo), núcleo pequeño con ausencia de nucléolos. No se observó mitosis, pleomorfismo ni necrosis. El estudio inmunohistoquímico reveló positividad intensa en las células tumorales para S100, CD56, enolasa neuronal específica, inhibina y PGP9.5, siendo negativas para actina de músculo liso y p53. El índice de proliferación celular (Ki-67) fue muy bajo, del 1%. Considerando los hallazgos anatomopatológicos e inmunohistoquímicos las lesiones fueron clasificadas como TCG benignos. En el momento actual se recomienda la resección endoscópica para el diagnóstico y tratamiento de los TCG submucosos, teniendo en cuenta que la contrapartida maligna de estos tumores es extremadamente rara en el tracto gastrointestinal (AU)

Granular cell tumours (GCTs) are rarely found in the gastrointestinal tract. We describe a case of a 55-year-old woman with GCTs in colon and oesophagus and a previous history of similar lesions in subcutaneous tissue, skin and breast. Endoscopic examination revealed submucosal tumours in the sigmoid and ascending colon, cecum and distal oesophagus. Endoscopicmucosal resection and biopsy followed by histological examination revealed the nodulesto be composed of plump histiocyte-like cells with abundant eosinophilic, granular, PAS positive cytoplasm with small nuclei lacking nucleoli. No mitosis, pleomorphism or necrosis were observed. The immunohistochemistry revealed strong positivity for S100, CD56, neuronal specific enolase, inhibin and PGP9.5 in the tumour cells, which were negative for smooth muscle actin and p53. Ki-67 showed a very low proliferation index (1%). The morphological and immunohistochemical findings led to a diagnosis of benign GCTs. At present, endoscopic mucosal resection is recommended for the diagnosis and treatment of submucosal GCTs, as their malignant counterpart is extremely rare in gastrointestinal tract (AU)

Características de los pacientes con poliposis adenomatosa familiar en España. Resultados iniciales del Registro Español de Poliposis Adenomatosa Familiar / Characteristics of patients with familial adenomatous polyposis in Spain. First results of the Spanish Registry of Familial Adenomatous Polyposis

Fundamento y objetivos: La poliposis adenomatosa familiar es una enfermedad hereditaria caracterizada por la presencia de múltiples adenomas en el colon y el recto (más de 100 en la forma clásica, y entre 10–100 en la forma atenuada), con un riesgo de cáncer colorrectal cercano al 100% si no se diagnostica y se trata de forma precoz. Con el objetivo de mejorar el diagnóstico y el tratamiento de estos pacientes en nuestro medio, en el año 2007 se creó el Registro Español de Poliposis Adenomatosa Familiar.Evaluar las características clinicopatológicas de los pacientes con poliposis adenomatosa familiar en España. Pacientes y métodos:Se evaluaron los pacientes incluidos en el registro durante el primer año de operatividad de este, en relación con las características demográficas, clínicas y genéticas.Resultados: En el período de estudio se incluyeron 243 pacientes pertenecientes a 156 familias no relacionadas procedentes de 15 centros. De estos, 130 eran hombres y la edad media al diagnóstico fue de 40 años. De acuerdo con la forma de presentación, 127 correspondían a la forma clásica y 116 correspondían a la forma atenuada. Se identificó la presencia de algún adenoma colorrectal con displasia de alto grado en 67 pacientes (28%), y de cáncer colorrectal en 42 pacientes (17%). Las manifestaciones extracolónicas fueron afectación duodenal (n=46), afectación gástrica (n=44), tumor desmoides (n=24), cáncer de tiroides (n=8), osteomas (n=6) y tumor cerebral (n=1). Se indicó la realización de análisis mutacional en los genes APC o MYH en 140 familias (90%): se completó en 85 de ellas, y se identificó la mutación causal en 75 familias (88%) (70 en el gen APC y 5 en el gen MYH) (AU)

Background and objectives: Familial adenomatous polyposis is an inherited disorder characterized by the presence of multiple colorectal adenomas (more than 100 in the classic form and between 10 and 100 in the attenuated one), with a high risk of colorectal cancer development. To improve the diagnostic and therapeutic management of these patients, the Spanish Registry of Familial Adenomatous Polyposis was created in 2007.We aimed to evaluate the clinicopathological characteristics of patients with familial adenomatous polyposis in Spain. Patients and methods: All patients included in the Registry during one year were evaluated with respect to their demographic, clinical, pathological, and genetic characteristics.Results: 243 patients of 156 unrelated families from 15 Spanish centers were included. One hundred thirty patients were male, and the mean age at diagnosis was 40 years. According to the clinical presentation, 127 corresponded to the classic form and 116 to the attenuated one. Colorectal adenoma with high-grade dysplasia was identified in 67 (28%) patients, and colorectal cancer in 42 (17%). Extracolonic manifestations were: duodenal involvement (n=46), gastric involvement (n=44), desmoid tumors (n=24), thyroid cancer (n=8), osteomas (n=6) and brain tumor (n=1). APC and/or MYH gene testing was performed in 140 (90%) families, detecting the causative mutation in 75 (54%) of them (70 in the APC gene and 5 in the MYH gene).Conclusions: During its first year of operability, a large number of patients and families were included in the Registry. The reduced prevalence of colorectal cancer as well as the large proportion of families submitted to gene testing demonstrated a high-quality clinical practice in Spain (AU)

[Characteristics of patients with familial adenomatous polyposis in Spain. First results of the Spanish Registry of Familial Adenomatous Polyposis]. / Características de los pacientes con poliposis adenomatosa familiar en España. Resultados iniciales del Registro Español de Poliposis Adenomatosa Familiar.

BACKGROUND AND OBJECTIVES: Familial adenomatous polyposis is an inherited disorder characterized by the presence of multiple colorectal adenomas (more than 100 in the classic form and between 10 and 100 in the attenuated one), with a high risk of colorectal cancer development. To improve the diagnostic and therapeutic management of these patients, the Spanish Registry of Familial Adenomatous Polyposis was created in 2007.We aimed to evaluate the clinicopathological characteristics of patients with familial adenomatous polyposis in Spain. PATIENTS AND METHODS: All patients included in the Registry during one year were evaluated with respect to their demographic, clinical, pathological, and genetic characteristics. RESULTS: 243 patients of 156 unrelated families from 15 Spanish centers were included. One hundred thirty patients were male, and the mean age at diagnosis was 40 years. According to the clinical presentation, 127 corresponded to the classic form and 116 to the attenuated one. Colorectal adenoma with high-grade dysplasia was identified in 67 (28%) patients, and colorectal cancer in 42 (17%). Extracolonic manifestations were: duodenal involvement (n=46), gastric involvement (n=44), desmoid tumors (n=24), thyroid cancer (n=8), osteomas (n=6) and brain tumor (n=1). APC and/or MYH gene testing was performed in 140 (90%) families, detecting the causative mutation in 75 (54%) of them (70 in the APC gene and 5 in the MYH gene). CONCLUSIONS: During its first year of operability, a large number of patients and families were included in the Registry. The reduced prevalence of colorectal cancer as well as the large proportion of families submitted to gene testing demonstrated a high-quality clinical practice in Spain.