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1.
Artículo en Inglés | MEDLINE | ID: mdl-39011513

RESUMEN

Papillary adenomas, known precursors to papillary adenocarcinoma, warrant close monitoring due to their malignant potential. Historically, surgical resection represented the mainstay of treatment for papillary adenomas with intraductal extension. However, recent advancements in endoscopic techniques have facilitated the adoption of endoscopic papillectomy as a minimally invasive alternative in carefully selected cases. We report a case of an 82-year-old woman with a diagnosis of papillary adenoma exhibiting intraductal extension. This was managed with a novel endoscopic technique, balloon catheter-assisted endoscopic resection. Due to the obscured intraductal component of the papillary mass, a balloon occlusion catheter was deployed within the common bile duct and used as traction to facilitate endoscopic visualization of the mass. Endoscopic resection via papillectomy was subsequently performed. Histopathological examination of the resected specimen revealed a villous adenoma with high-grade dysplasia. Serial endoscopic ultrasound examinations with targeted papillary biopsies were performed to monitor for disease recurrence.

2.
Artículo en Inglés | MEDLINE | ID: mdl-38770399

RESUMEN

Objective: The population-based colorectal cancer screening guidelines in Japan recommend an annual fecal immunochemical test (FIT). However, there is no consensus on the need for annual FIT screening for patients who recently performed a total colonoscopy (TCS). Therefore, we evaluated the repeated TCS results for patients with positive FIT after a recent TCS to assess the necessity of an annual FIT. Methods: We reviewed patients with positive FIT in opportunistic screening from April 2017 to March 2022. The patients were divided into two groups: those who had undergone TCS within the previous 5 years (previous TCS group) and those who had not (non-previous TCS group). We compared the detection rates of advanced neoplasia and colorectal cancer between the two groups. Results: Of 671 patients, 151 had received TCS within 5 years and 520 had not. The detection rates of advanced neoplasia in the previous TCS and non-previous TCS groups were 4.6% and 12.1%, respectively (p < 0.01), and the colorectal cancer detection rates were 0.7% and 1.5%, respectively (no significant difference). The adenoma detection rates were 33.8% in the previous TCS group and 40.0% in the non-previous TCS group (no significant difference). Conclusions: Only a few patients were diagnosed with advanced neoplasia among the patients with FIT positive after a recent TCS. For patients with adenomatous lesions on previous TCS, repeated TCS should be performed according to the surveillance program without an annual FIT. The need for an annual FIT for patients without adenomatous lesions on previous TCS should be prospectively assessed in the future.

3.
Case Rep Gastroenterol ; 18(1): 293-298, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39015522

RESUMEN

Introduction: Familial adenomatous polyposis (FAP), a hereditary disorder of the gastrointestinal tract, is an autosomal dominant inherited condition caused by germline mutations in the adenomatous polyposis coli (APC) gene. It is characterized by the development of hundreds to thousands of colorectal adenomatous polyps, which, if left untreated, can eventually develop into colorectal carcinomas. Representative extracolonic tumors in FAP include multiple duodenal adenomas and desmoid tumors. Moreover, multiple fundic gland polyps are frequently identified in the stomachs of patients with FAP. Case Presentation: Herein, we report the two cases. A 52-year-old woman who underwent total colectomy for FAP, and pancreatoduodenectomy was initiated on esomeprazole for the treatment of anastomotic erosion. Esophagogastroduodenoscopy performed 42 months later showed an increased number and size of gastric fundic gland polyps, which subsequently decreased after replacing esomeprazole with ranitidine. Similarly, a 39-year-old woman with FAP was initiated on vonoprazan for the treatment of reflux symptoms. Esophagogastroduodenoscopy and colonoscopy performed 14 months later indicated an increase in the number of gastric fundic gland polyps and colorectal polyps, which subsequently decreased after vonoprazan discontinuation. In these two cases, the increase and decrease in the number and size of fundic gland polyps and colon adenoma were associated with serum gastrin levels. Conclusion: Gastric fundic gland polyps and colon polyps may rapidly increase in number and size due to increased gastrin levels induced by proton pump inhibitor/potassium-competitive acid blocker use. Hence, these drugs should be prescribed with caution.

4.
Clin Neurol Neurosurg ; 244: 108446, 2024 Jul 10.
Artículo en Inglés | MEDLINE | ID: mdl-39018992

RESUMEN

OBJECTIVE: To (i) correlate preoperative retinal nerve fibre layer (RNFL) thickness with visual parameters in patients with pituitary macroadenomas. (ii) study the predictive role of preoperative RNFL in visual outcome following surgery for pituitary macroadenomas (iii) correlate change in postoperative RNFL thickness (RNFLT) with visual outcome. METHODS: Preoperative and post-operative RNFL thickness of thirty-three consecutive patients operated for pituitary macro adenoma between June 2022 and May 2023 were measured using Optical Coherence Tomography (OCT) and compared with standard visual examination findings and Magnetic Resonance Imaging (MRI) measurements. RESULTS: A total of 66 eyes of 33 patients who underwent surgical excision of pituitary macro adenoma between June 2022 and May 2023 were studied. The mean age in years of the study group was 44.36 ± 13.77 and both sexes were equally represented (Male: Female = 16:17). RNFL thinning predominantly involved the temporal (51.21+/-15.19 µm) followed by nasal quadrants (62.67+/- 17.03 µm) and correlated well with the visual field (VF) deficit (p <0.001). Patients with severe disc pallor had extremely thin RNFL (less than 67 +/- 8.68 µm). Patients with moderate to severe visual acuity (VA) deficits had significantly thinner RNFLs (65.08±7.09) compared to patients with normal to mild impairment in vision. (83.185±1.2) (p<0.05). RNFL values were significantly thinner for patients with Wilson Grade C, D and E tumours (66.13 ±12.19 µm) compared to those in Grade A and B (77.67±22.12 µm). The mean preop RNFL of patients who showed post-operative improvement in vision was 87.025± 15.02 µm, of patients in whom vision remained static was 74.58 ±18.31 µm. The mean VA (Decimal) increased from a minimum of 0.60 at the pre-operative timepoint to a maximum of 0.68 at the post-operative timepoint. (Wilcoxon Test: V = 42.5, p = <0.001). The mean RNFLT (µm) increased from 77.14 µm at the pre-operative timepoint to 83.77 µm at the post-operative timepoint. (Wilcoxon Test: V = 218.0, p = <0.001). The mean change of RNFL in patients in whom vision improved was 3.6 µm and the mean change of RNFL in patients in whom vision remained static was 9.51 µm. Absence of postoperative visual improvement was noted despite postoperative RNFL thickness improvement in eyes which showed significant preoperative thinning of the nasal (<65 µm) and temporal (<52µm) quadrants. CONCLUSION: RNFL thinning corelates directly with visual acuity, visual field, and optic disc pallor. Patients with pituitary adenoma have preferential thinning of temporal and nasal quadrants. Visual outcome is better in patients with preserved RNFLT of values more than 82 +/- 5 µm. Reversal of RNFL thinning postoperatively need not necessarily correlate with visual improvement especially in patients who showed significant preoperative thinning of nasal and temporal quadrants.

5.
Arch Craniofac Surg ; 2024 Jul 18.
Artículo en Inglés | MEDLINE | ID: mdl-39020470

RESUMEN

Pleomorphic adenoma is a benign tumor that can occur in the salivary glands, most commonly in the parotid gland. While it primarily occurs in the major salivary glands, it can sometimes be found in the minor salivary glands. Within the minor salivary glands, it most often originates in the hard palate and soft palate, and less frequently in the upper lips. Due to its location in the minor salivary glands, most pleomorphic adenoma involve and protrude on the mucosa. A 61-year-old man presented with 1.5 cm exophytic mass on the skin of his upper lip. This mass was exophytic on the skin and did not involve or protrude into the inner lip mucosa. The mass was entirely excised, and a subsequent permanent biopsy diagnosed it as a pleomorphic adenoma. In such situations, it can be challenging to suspect pleomorphic adenoma during a physical examination, leading to potential diagnostic confusion. It might also be mistaken for an inclusion cyst or another type of mass, making it tempting to treat without verifying the pathological results.

6.
Artículo en Inglés | MEDLINE | ID: mdl-39021177

RESUMEN

BACKGROUND: There is a lack of solid long-term evidence with respect to the management over time of adrenal incidentalomas that miss clearly benign radiological features. We present the case of a 75-year-old man with a non-secreting adrenal mass, apparently stable in size (14 mm) and unchanged in features for 2 years, but subsequently diagnosed as adrenal carcinoma. CASE REPORT: The patient was referred to Grande Ospedale Metropolitano Niguarda in August 2022 due to the presence of a large lesion in the left adrenal site. In 2017, a 14 mm, 20 HU, round, regular-edged lesion was detected at a CT scan without contrast medium. Over the next two years, the patient was re-evaluated every 6 months with follow-up CT scans with no apparent densitometric or dimensional changes in the known lesion. In September 2022, 3 years after the last CT scan, the patient was hospitalised for pneumonia. An abdominal CT scan acquired during the hospitalisation showed an increase of the lesion to 14.5x10x12 cm. The patient subsequently underwent open nephrosurrenectomy, and histological examination confirmed the presence of an adrenal carcinoma (proliferation index 5%, Weiss score 7). No adjuvant therapy was administered, and the last CT scan in December 2022 was negative for the recurrence of the disease. CONCLUSION: Adrenal carcinoma usually presents as a clearly malignant lesion with rapid growth and a marked tendency to metastasise. This case highlights how an adrenal adenoma with indeterminate features is worthy of follow-up over time despite its apparent dimensional and radiological stability [1].

7.
Front Genet ; 15: 1391851, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39021676

RESUMEN

Objective: Familial adenomatous polyposis (FAP) is a genetic syndrome characterized by multiple polyps at various evolutionary stages, which, if left untreated, inevitably progress to colorectal cancer (CRC). In this study, we present a comprehensive analysis of the evolutionary history of FAP-CRC from precancerous adenoma to carcinoma. Design: Tissues were collected from gastrointestinal endoscopy or surgical resection. Exome sequencing was performed on multiple regions of adenocarcinoma (n = 8), villous adenoma (n = 10), tubular adenoma (n = 9) and blood samples were obtained from 9 patients belonging to 7 Chinese FAP families. Phylogenetic trees were reconstructed, and evolutionary analysis was conducted to reveal the temporal sequence of events leading to CRC. Results: Inherited germline mutation sites in APC gene were identified in FAP01 (p.S1281*, COSM19212), FAP03 (p.S384Tfs*19), FAP04 (p.E1538*, COSM6041693), FAP05 (p.Q1062*, COSM3696862), and FAP07-FAP09 (p.V677Sfs*3). Notably, p.V677Sfs*3 mutation was recognized as a novel germline mutation in APC, supported by evidence of genotype-phenotype correlation in pedigree analysis. Adenomas exhibited lower mutational rates than FAP-CRC and displayed recurrent alterations in well-known chromosomal instability (CIN) genes (APC, RAS, SMAD4 and TP53) and DNA damage repair genes (SUZ12, KMT2C, BCLAF1, RUNX1, and ARID1B), suggesting the presence of genomic instability. Furthermore, a progressive increase in the HRD score (a measure of "genomic scars") was observed from tubular adenomas to villous adenomas and ultimately to carcinomas. TP53 emerged as the primary driver gene for adenoma-carcinoma transition, with driver mutations consistently appearing simultaneously rather than sequentially acquired from adenomas to carcinomas. Clonal evolution demonstrated that liver metastases can originate from the same cancer-primed cell present in a primary cancerous lesion. Conclusion: We identified a novel pathogenic variant in APC, namely, p.V677Sfs*3. The process of carcinogenesis in FAP-CRC supports the classical cancerization model, where an initial APC mutation leads to the activation of the WNT signaling pathway and CIN. Subsequently, additional mutations occur in other putative CIN genes (e.g., DNA repair, chromatin remodeling), ultimately leading to the development of microsatellite stable (MSS) tumors. Our study provides a comprehensive understanding of the genomic landscapes that underlie the transition from adenoma to carcinoma.

8.
Open Life Sci ; 19(1): 20220917, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39022161

RESUMEN

Tubular adenomas of the breast are rare benign epithelium-derived tumours, and so few cases have been reported. Most often, the tumours are palpable, well-circumscribed masses in women of childbearing age and are commonly diagnosed as fibroadenomas both clinically and radiographically. We describe the case of a premenopausal patient with tubular adenoma of the breast who presented with small nipple discharge and a palpable breast mass. On imaging, tubular adenomas are practically indistinguishable from fibroadenomas and most commonly present as oval, circumscribed masses that are hypoechoic on ultrasound. On magnetic resonance imaging (MRI), tubular adenomas may present as lobulated or oval masses with a hyperintense signal on T2-weighted imaging and inhomogeneous internal enhancement on dynamic contrast-enhanced MRI. Pathologic findings after resection of the mass confirmed the diagnosis of tubular adenoma.

9.
Front Neurol ; 15: 1393572, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39022728

RESUMEN

Objectives: Diagnosing brain tumors is critical due to their complex nature. This review explores the potential of in situ hybridization for diagnosing brain neoplasms, examining their attributes and applications in neurology and oncology. Methods: The review surveys literature and cross-references findings with the OMIM database, examining 513 records. It pinpoints mutations suitable for in situ hybridization and identifies common chromosomal and gene anomalies in brain tumors. Emphasis is placed on mutations' clinical implications, including prognosis and drug sensitivity. Results: Amplifications in EGFR, MDM2, and MDM4, along with Y chromosome loss, chromosome 7 polysomy, and deletions of PTEN, CDKN2/p16, TP53, and DMBT1, correlate with poor prognosis in glioma patients. Protective genetic changes in glioma include increased expression of ADGRB3/1, IL12B, DYRKA1, VEGFC, LRRC4, and BMP4. Elevated MMP24 expression worsens prognosis in glioma, oligodendroglioma, and meningioma patients. Meningioma exhibits common chromosomal anomalies like loss of chromosomes 1, 9, 17, and 22, with specific genes implicated in their development. Main occurrences in medulloblastoma include the formation of isochromosome 17q and SHH signaling pathway disruption. Increased expression of BARHL1 is associated with prolonged survival. Adenomas mutations were reviewed with a focus on adenoma-carcinoma transition and different subtypes, with MMP9 identified as the main metalloprotease implicated in tumor progression. Discussion: Molecular-genetic diagnostics for common brain tumors involve diverse genetic anomalies. In situ hybridization shows promise for diagnosing and prognosticating tumors. Detecting tumor-specific alterations is vital for prognosis and treatment. However, many mutations require other methods, hindering in situ hybridization from becoming the primary diagnostic method.

10.
Artículo en Inglés | MEDLINE | ID: mdl-39028425

RESUMEN

INTRODUCTION: This study aims to assess 68Ga-Trivehexin PET/CT for detecting hyperfunctioning parathyroid tissue in comparison to [99mTc]Tc-MIBI scintigraphy-SPECT/CT (MIBI scan) in patients with primary hyperparathyroidism (PHPT). METHODS: The cohort comprised 13 patients diagnosed with PHPT based on biochemical analyses, including serum calcium, phosphorus, and parathyroid hormone (PTH) levels. Each participant underwent cervical ultrasonography, MIBI scan, and 68Ga-Trivehexin PET/CT imaging. Complementary 4D-CT and [18F]fluorocholine PET/CT were conducted in 7 patients. Ten lesions of 7 patients underwent PTH wash-out (WO) procedure. 68Ga-Trivehexin PET/CT findings were compared with other modalities and PTH-WO results. RESULTS: Ten patients had sporadic PHPT, while 3 were diagnosed with MEN-1 syndrome-associated PHPT. One patient did not have any identifiable parathyroid lesion across the imaging modalities. On a patient-based analysis, MIBI scan and 68Ga-Trivehexin PET/CT identified parathyroid lesions in 10 and 11 patients, respectively. However, 68Ga-Trivehexin PET/CT detected 7 additional parathyroid lesions that were negative on the MIBI scan. Consequently, 17 lesions were identified and confirmed as hyperfunctioning parathyroid tissue through imaging, PTH-WO, or a combination of both modalities. In lesion-based evaluation, 68Ga-Trivehexin identified 16 lesions compared to 10 by MIBI scan, resulting in a detection rate of 94.1% and 58.8%, respectively. Notably, in three patients who underwent [18F]fluorocholine PET/CT, no lesions were detected; yet 68Ga-Trivehexin PET/CT successfully identified parathyroid lesions in two of these patients. CONCLUSION: Our study provides the first evidence that 68Ga-Trivehexin PET/CT can effectively identify hyperfunctioning parathyroid tissue with a high detection rate warranting further investigations to comprehensively explore its potential in PHPT management.

11.
Pak J Med Sci ; 40(6): 1111-1115, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38952527

RESUMEN

Objective: In recent decades, there has been an increase in early-onset colorectal cancer, the need to screen individuals younger than 50 years of age, and the presence of histopathological differences remains unclear. The objective of this study was to explore the occurrence of polyps in both young adults and older individuals and to examine their potential correlation with colorectal cancer. Methods: In this retrospective study conducted between July 1, 2018, and October 5, 2022, in the Pathology Laboratory, we designed a study based on the histopathological features of colorectal polyps evaluated by an experienced gastrointestinal pathologist based on the WHO 2019 classification. Results: We evaluated 735 consecutive patients who underwent colonoscopic polypectomy between July 2018 and October 2022. The prevalence of cases under the age of 50 was 13.9%, and adults over the age of 50 was 86.1%. A total of 1269 polyps were detected, 1215 (95.7%) were epithelial polyps and 145 (11.9%) were epithelial polyps under the age of 50. One hundred four conventional adenomas and four intramucosal carcinomas were detected in cases younger than 50 years. The patients in the low-risk adenoma group was 57%, and the rate of patients in the high-risk adenoma group was 14.9%. Overall, polyps were most common in the sigmoid colon and there was a statistically significant difference between detecting tubular adenomas in the sigmoid colon (P=0.04). Conclusions: Our current results confirm the detection of sporadic colorectal adenomas and advanced neoplasia in young adults.It is important to establish professional community guidelines for surveillance colonoscopy in these age groups.

13.
Cureus ; 16(6): e62709, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-39036214

RESUMEN

Mucinous adenocarcinomas of the upper urinary tract are extremely rare, and the majority of information available comes from case reports or short case series. Intestinal metaplasia is considered a premalignant condition in carcinogenesis. Here we present a case of a 55-year-old male who presented with a left flank mass extending to the left hemiabdomen and macroscopic hematuria. Pathologic findings revealed that the kidney was transformed into a multiloculated cystic mass measuring 18 × 12 × 11 cm, with a dilated pelvicalyceal system obstructed by a stone at the renal hilus and filled with a gray, soft, gelatinous material. Histopathologic sections showed glandular metaplasia of the proximal ureter ascending to the renal pelvis, lined by intestinal-type columnar epithelium containing goblet cells admixed with malignant glands floating in abundant extracellular mucin, along with poorly differentiated areas composed of signet ring cells. Immunohistochemistry studies showed positive periodic acid Schiff (PAS)/periodic acid Schiff-diastase (PAS-D), consistent with the mucinous nature of the intracellular and extracellular materials. Positive immunohistochemical staining for CK7, CK20, and CDX2 (CK7+/CK20+/CDX2+) highlighted the intestinal differentiation of this neoplasm. This offers evidence for the intestinal metaplasia-dysplasia-carcinoma sequence rather than a teratomatous or coelomic epithelial origin in mucinous ovarian-like cystadenocarcinoma involving the renal pelvis.

16.
Front Med (Lausanne) ; 11: 1370674, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38988358

RESUMEN

A 79-year-old man underwent operative drainage and 2-week cephalosporin treatment due to a maxillofacial space infection (bilateral submaxillaris, submentum, and left face). However, he experienced anorexia, nausea, vomiting, and emaciation in the following 2 months. It was initially considered that a malignancy might be present, thus a series of examinations were performed. Laboratory investigations showed increases in inflammatory markers and a significant eosinophilia, which seemed to be a hematological system disease. Combined with the gastrointestinal endoscopes and histology examination, the patient was diagnosed with eosinophilic gastroenteritis (EGE). After cessation of antibiotic treatment and administration of corticosteroid, our patient experienced a rapid progress in his clinical condition. Despite the low incidence, EGE should be considered in patients with unknown cause of gastrointestinal disorder, elevated eosinophilia, and so on.

17.
Oncol Lett ; 28(3): 411, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-38988450

RESUMEN

Pituitary apoplexy (PA) is an emergency condition caused by sudden hemorrhage or infarction and characterized by sudden sella turcica compression, intracranial hypertension and meningeal stimulation. PA usually occurs secondary to pituitary adenomas and can serve as the initial manifestation of an undiagnosed pituitary adenoma in an individual. In the present study, a case of PA following surgery for cervical stump adenocarcinoma was reported. The patient experienced an abrupt onset of headache and drowsiness on postoperative day 1 (POD1), and developed blurred vision and blepharoptosis of the left eye on POD4. Pituitary MRI confirmed the diagnosis of PA, prompting the initial administration of hydrocortisone to supplement endogenous hormones, followed by trans-sphenoidal resection. At the six-week follow-up, the patient had fully recovered, with only mild residual blurring of vision. Diagnosing PA post-surgery can be a challenging task due to its symptomatic overlap with postoperative complications. The existing literature on PA after surgery was also reviewed, including the symptoms, time of onset, imageological examination, management, potential risk factors and outcome to improve on early detection and individualized treatment in the future.

18.
Cureus ; 16(6): e62097, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38989373

RESUMEN

Hepatocellular adenomas are rare and benign primary neoplasms of phenotypically mature hepatocytes. Our understanding of this pathology has greatly improved due to advances in molecular and anatomic knowledge. This article provides an in-depth review of hepatic adenomas (HCA) while presenting the case of a 20-year-old patient with a giant inflammatory hepatocellular adenoma with an atypical presentation, in whom surgical intervention was performed via right hepatectomy. In the post-surgical course, the patient had an in-hospital stay of three days with no complications. During outpatient monitoring via laboratory tests and imaging at eight months, the patient did not present any trace of recurrence.

19.
Cureus ; 16(6): e62060, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38989374

RESUMEN

Cutaneous mixed tumor or chondroid syringoma is a rare benign, skin appendageal tumor prevalent in areas of the head and neck. It represents the cutaneous counterpart of the pleomorphic adenoma of salivary glands. Its clinical presentation often misguides the clinician to underdiagnose it as a reactive lesion. We report the case of a 94-year-old male admitted for excision of cutaneous carcinoma concurrently with a chondroid syringoma of the pinna provisionally misdiagnosed as a keloid.

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