Atypical Adenoma Research Articles

Predictors of early visual outcome after endoscopic trans sphenoidal excision of pituitary adenomas

BACKGROUND: Endoscopic transsphenoidal excision has revolutionized the surgical management of pituitary macroadenoma. There had been several retrospective studies on the factors determining the visual outcome after surgical excision of pituitary adenoma, but very few prospective studies were published in this context. This is a prospective study of the factors predicting visual outcome following endoscopic transsphenoidal excision of pituitary adenoma. Various factors like age, duration of visual symptoms, the volume of the tumour, suprasellar extension, parasellar extension, type of adenoma, pituitary apoplexy, completion of excision, fundoscopic changes, and preoperative visual deficits were studied. METHODS: Single centre prospective observational study done between November 2016 to December 2018. Thirty patients with pituitary macroadenoma who underwent trans nasal endoscopic excision were studied with preoperative and postoperative visual impairment score (VIS) and the visual outcome was categorized as a good outcome if there was more than 5% improvement in VIS and as worse otherwise. Various predictors that may influence the outcome were statistically compared. RESULTS: 83.3% of patients (n=25) showed improvement in their vision at 6months follow-up. Overall visual outcome (considering both parameters visual acuity and visual field together) was dependent on suprasellar extension (P=0.01), completion of excision (P=0.004), and primary optic atrophy (P=0.018). On subgroup analysis recovery in visual acuity was significantly determined by the preoperative tumour volume(P=0.041), suprasellar extension (P=0.006), completion of excision(P=0.003), and primary optic atrophy (P=0.013). The improvement in the field of vision depended on the severity of preoperative field defects (P=0.04) and completion of excision (P=0.01). CONCLUSIONS: The factors predicting the early visual outcome were the suprasellar extension, completion of excision, preoperative field deficits, and primary optic atrophy. This study highlights the importance of early and proper intervention in pituitary adenomas managed surgically to procure the desired result.

The spectrum of manifestations of primary hyperparathyroidism in children and adolescents.

Primary hyperparathyroidism (PHPT) is a rare disease in children and adolescents. Early recognition of this disease is important to prevent significant morbidity and mortality. We included 10 consecutive patients with PHPT aged 14 to 19 years of age and followed-up prospectively upto one year after parathyroidectomy. Our cohort included 6 females and 4 males. The mean age of the patients was 16.7 ±1.8 years. The symptoms at presentation were musculoskeletal pain (90%), bone deformity (50%), fracture (30%), proximal myopathy (40%), renal stones (50%), reflux symptoms (40%), and pancreatitis (30%). The mean serum calcium was 3.1 ±0.5 mmol/l, mean serum inorganic phosphorus was 0.9 ±0.3 mmol/l and median serum alkaline phosphatase (ALP) was 1911.5 IU/l (IQR: 522.7-5702.3). The median serum intact parathyroid hormone was 133.5 pmol/l (IQR: 69.5 -178.7) while serum 25(OH)D was 47.7 nmol/l (IQR: 23.7-72.7). Hypercalciuria was observed in 7 patients. Hungry bone syndrome was observed in 4 (40%) patients after surgery. Typical parathyroid adenoma was found in 9 (90%) patients while one patient had atypical adenoma with high mitotic index. After one year of surgery, all patients had significant improvement in clinical and biochemical parameters with persistence of residual bone deformities. Our study showed the spectrum of manifestations of PHPT in children and adolescents and outcomes of parathyroidectomy till one year. Long-term follow-up studies with bigger cohorts are required to understand the true nature of the disease in children and adolescents.

Yield of Post-acute Diverticulitis Colonoscopy for Ruling out Colorectal Cancer

Background and AimsColonoscopy is recommended for post-acute diverticulitis (AD) to exclude underlying colorectal cancer (CRC). However, post-AD colonoscopy utility remains controversial. We aimed to examine yield of post-AD colonoscopy in our predominately Hispanic patient population. MethodsPatients undergoing post-AD colonoscopy between November 1, 2015 and July 31, 2021 were identified from a prospectively maintained endoscopic database. AD cases without computed tomography confirmation were excluded. Pertinent data were abstracted, including whether patients had complicated or uncomplicated AD; fecal immunochemical test (FIT) result post-AD and precolonoscopy; number, type, and location of nonadvanced adenomas; advanced adenomas; and CRC. Analyses were conducted using 2-sample Wilcoxon rank sum and Fisher exact tests. ResultsTwo hundred eight patients were included, of whom 62.0% had uncomplicated AD. Median age was 53 years, 113 (54.3%) were female, and 161 (77.4%) were Hispanic. Ninety nonadvanced adenomas were detected in 45 patients (21.6%), in addition to eight advanced adenomas in 8 patients (3.8%). Two patients (1.0%) had CRC, both of whom had complicated AD in the same location seen on imaging, and 1 of whom was FIT positive (the other had not undergone FIT). Patients with uncomplicated vs complicated AD had similarly low rates of advanced adenomas (4.7% vs 2.5%, P = 0.713). FIT data were available for 51 patients and positive in 3 (5.9%); nonadvanced adenomas were found in all 3 patients who were FIT positive. No patient who was FIT negative had an advanced adenoma or CRC. ConclusionColonoscopy post-AD is generally low yield, with CRC rarely being found and only in those with complicated AD. Colonoscopy post-complicated AD appears advisable, whereas less invasive testing (eg, FIT) may be considered for post-uncomplicated AD to inform the need for colonoscopy.

AN INTEGRATED APPROACH TO THE MORPHOLOGICAL DIAGNOSIS OF DIFFERENT TYPES OF PLEOMORPHIC ADENOMAS OF THE SALIVARY GLAND: LONG-TERM RESEARCH RESULTS.

The aim: To describe an integrated approach to the morphological diagnosis of different types of pleomorphic adenomas of the salivary gland. Materials and methods: Surgical and biopsy material from 30 patients with pleomorphic adenomas of epithelial, mixed and mesenchymal variants was studied using histological, immunohistochemical, genetic, morphometric and statistical methods. Results: The results of research allowed us to identify methods for determination the pleomorphic adenomas types. The first method requires an immunohistochemical reaction with a monoclonal antibody to human papillomavirus type 16, followed by counting the percentage of positively stained cells in the tumor. Thus, the mesenchymal variant of the tumor is diagnosed when the percentage of positively stained cells is < 40%. In the mixed variant, this indicator is ≥ 40%, but ≤ 70%, and in epithelial variant - > 70%. The second method was based on the multivariate discriminant analysis. Three formulae were derived to determine the tumor types (Fmesenchymal = - 41.03 + 4.96Х1 + 1.11Х2, Fepithelial = - 22.27 + 3.46Х1 + 0.85Х2, Fmixed = - 122.25 + 5.63Х1 + 3.2Х2, here Х1 - number of vessels, Х2 - specific volume of parenchyma). Conclusions: The authors identified several methods for determining the histological variants of pleomorphic adenomas. These methods will improve the morphological diagnosis of pleomorphic adenomas variants in the preoperative and postoperative periods.

An unusual case of atypical teratoid/rhabdoid tumor, initially diagnosed as atypical pituitary adenoma in a 13-year-old male patient.

An unusual case of atypical teratoid/rhabdoid tumor, initially diagnosed as atypical pituitary adenoma in a 13-year-old male patient.

Giant Parathyroid Adenomas: Differential Aspects Compared to Atypical Parathyroid Adenomas

Giant Parathyroid Adenomas: Differential Aspects Compared to Atypical Parathyroid Adenomas

Colonoscopy Screening and Polyp Detection in the Southeastern United States.

Screening colonoscopy is recommended for polyp detection and colorectal cancer prevention for those aged 50-75 years. The aim of this study was to determine colon polyp incidence rates detected through screening colonoscopies in the Southeast United States. A retrospective chart review was conducted to determine polyp rates. Charts with a diagnostic code of "screening" colonoscopy were reviewed for age, gender, number of polyps, and type of polyps. The number of charts reviewed was 534, with a total of 239 found to have polyps. Polyp type was defined as hyperplastic and adenomatous, with all adenomatous types grouped together. Descriptive statistics were used for data analysis. The median age of participants was 62 years with 58% being male. The combined rate of colon polyp detection was 44.6%. Seventy percent of the overall sample was found to have at least one polyp. From 16% to 20% of the study population had mixed (adenomatous and hyperplastic) polyps. This study supports the need for continued screening colonoscopies for polyp detection and removal. Education is key and nurses are often the ones who have the greatest educational opportunity. This study indicates the need for further research that may support colorectal cancer screening beginning at an earlier age.

Relationship between location, size, morphology and histopathological types of neoplastic colorectal polyps

Objective: To evaluate correlations between location, size, morphology and histopathological types of neoplastic colorectal polyps. Subject and method: We reviewed endoscopic and histopathologic data from 215 patients undergoing colonoscopy. We categorized colorectal polyps according to anatomic location, size, and morphology. Histopathological features were classified using the World Health Organization (WHO-2019) classification. Result: Neoplastic polyps were mostly located in the left colon and rectum. Serrated polyps with dysplasia were not found in right colon. The proportion of colonic polyp with a size larger than 1cm and those with a size smaller or equal 1cm accounted for 85.1% and 14.9%, respectively. The cancer risk of polyps larger than 1cm were higher than those of polyps smaller or equal 1cm. Villous adenoma and serrated polyp with dysplasia were found exclusively in polyps bigger than 1cm (p&lt;0.001). The proportions of sessile adenoma and pedunculated adenoma accounted for 41.9% and 58.1%, respectively. The existence of polyps stalk had no relationship with histopathological types (p=0.127). The cancer risk of villous adenoma was higher than those of other histopathological types (OR = 4.6, 95% CI = 1.9 - 11.3, p&lt;0.001). Conclusion: The localization of polyp was mostly in left colon and rectum. Polyp size larger than 1cm and villous adenoma type were closely related to the malignant change in neoplastic polyps.

Filamin A and parafibromin expression in parathyroid carcinoma.

Parathyroid carcinoma (PC), atypical parathyroid tumours (APT) and parathyroid adenoma (PA), all present with hypercalcemia. Diminished calcium-sensing receptor (CaSR) expression is reported in PC but is rare in benign tumours. Filamin A (FLNA) binds to the CaSR and activates the mitogen-activated protein kinase (MAPK) signalling pathway. FLNA is related to tumour aggressiveness in several cancers, but its role in parathyroid neoplasia is unknown. We examined FLNA, CaSR and parafibromin expression in PCs (n = 32), APTs (n = 44) and PAs (n = 77) and investigated their potential as diagnostic and/or prognostic markers. Tissue microarray slides were immunohistochemically stained with antibodies for FLNA, CaSR and parafibromin. Staining results were correlated with detailed clinical data. All tumours stained positively for CaSR, with two tumours (one PC and one APT) showing diminished expression. Carcinomas were characterized by increased cytoplasmic FLNA expression compared to APTs and PAs (P = 0.004). FLNA expression was not correlated with Ki-67 proliferation index or loss of parafibromin expression. Cytoplasmic FLNA expression was also associated with higher serum calcium, PTH concentrations and male sex (P = 0.014, P = 0.017 and P = 0.049 respectively). Using a combined marker score, we found that parathyroid tumours with low FLNA expression and positive parafibromin staining were extremely likely to be benign (P < 0.001). Cytoplasmic and membranous FLNA expression is increased in parathyroid carcinomas compared to benign tumours. A combined FLNA and parafibromin expression score shows potential as a prognostic predictor of indolent behaviour in parathyroid neoplasms.

Predictors of Tumour Growth and Autonomous Cortisol Secretion Development during Follow-Up in Non-Functioning Adrenal Incidentalomas.

Purpose: To assess the risk of developing autonomous cortisol secretion (ACS) and tumour growth in non-functioning adrenal incidentalomas (NFAIs). Methods: Multicentre retrospective observational study of patients with NFAIs. ACS was defined as serum cortisol >1.8 µg/dL after 1 mg-dexamethasone suppression test (DST) without specific data on Cushing’s syndrome. Tumour growth was defined as an increase in maximum tumour diameter >20% from baseline; and of at least 5 mm. Results: Of 654 subjects with NFAIs included in the study, both tumour diameter and DST were re-evaluated during a follow-up longer than 12 months in 305 patients. After a median follow-up of 41.3 (IQR 24.7–63.1) months, 10.5% of NFAIs developed ACS. The risk for developing ACS was higher in patients with higher serum cortisol post-DST levels (HR 6.45 for each µg/dL, p = 0.001) at diagnosis. Significant tumour growth was observed in 5.2% of cases. The risk of tumour growth was higher in females (HR 10.7, p = 0.004). Conclusions: The frequency of re-evaluation with DST in NFAIs during the initial 5 years from diagnosis can probably be tailored to the serum cortisol post-DST level at presentation. Re-evaluation of NFAIs with imaging studies, on the other hand, seems unnecessary in most cases, particularly if the initial imaging demonstrates features specific to typical adenoma, given the low rate of significant tumour growth.

Aggressive prolactinoma (Review).

Aggressive prolactinoma (APRL) is a subgroup of aggressive pituitary tumors (accounting for 10% of all hypophyseal neoplasia) which are defined by: invasion based on radiological and/or histological features, a higher proliferation profile when compared to typical adenomas and rapidly developing resistance to standard medication/protocols in addition to an increased risk of early recurrence. This is a narrative review focusing on APRL in terms of both presentation and management. Upon admission, the suggestive features may include increased serum prolactin with a large tumor diameter (mainly >4 cm), male sex, early age at diagnosis (<20 years), and genetic predisposition [multiple endocrine neoplasia type 1 (MEN1), aryl hydrocarbon receptor interacting protein (AIP), succinate dehydrogenase (SDHx) gene mutations]. Potential prognostic factors are indicated by assessment of E-cadherin, matrix metalloproteinase (MMP)-9, and vascular endothelial growth factor (VEGF) status. Furthermore, during management, APRL may be associated with dopamine agonist (DA) resistance (described in 10-20% of all prolactinomas), post-hypophysectomy relapse, mitotic count >2, Ki-67 proliferation index ≥3%, the need for radiotherapy, lack of response in terms of controlling prolactin levels and tumor growth despite multimodal therapy. However, none of these as an isolated element serves as a surrogate of APRL diagnosis. A fourth-line therapy is necessary with temozolomide, an oral alkylating chemotherapeutic agent, that may induce tumor reduction and serum prolactin reduction in 75% of cases but only 8% have a normalization of prolactin levels. Controversies surrounding the duration of therapy still exist; also regarding the fifth-line therapy, post-temozolomide intervention. Recent data suggest alternatives such as somatostatin analogues (pasireotide), checkpoint inhibitors (ipilimumab, nivolumab), tyrosine kinase inhibitors (TKIs) (lapatinib), and mTOR inhibitors (everolimus). APRL represents a complex condition that is still challenging, and multimodal therapy is essential.

The distress and needs of Chinese patients with pituitary adenoma: a preliminary survey

IntroductionIt is necessary to investigate the current psychological distress and needs status of patients with pituitary adenoma in China.Material and methodsPatients with pituitary adenoma treated in our hospital from May 2019 to December 2019 were included. The psychological distress and needs scale for pituitary adenoma patients was used to investigate the psychological distress and needs of patients. Besides, univariate and multiple linear regression analyses were conducted to analyze the influencing factors.ResultsA total of 254 valid questionnaires were included. The total psychological distress and need score of patients with pituitary adenoma was (23.89±18.41) and (21.91±20.03) points respectively. There were significant differences on the psychological distress score in different occupational status, personal income, types of pituitary adenomas, size of pituitary adenoma, invasiveness, endocrine level and history of surgery (all p&lt;0.05). The size of pituitary adenoma, endocrine level and pituitary adenoma type were the influencing factors of patients' psychological distress(all p&lt;0.05). There were significant differences on the need score in different age, occupational status, personal income, types of pituitary adenomas and endocrine level(all p&lt;0.05). Endocrine level, other rare types of pituitary adenoma and age were the influencing factors of patients' needs (all p&lt;0.05).ConclusionsOur study is one of the few studies focused on the psychological distress and needs status of Chinese patients with pituitary adenoma. Medical staff should pay attention to the psychological distress of patients with large, rare type of pituitary adenomas and abnormal endocrine level, and take corresponding interventions to alleviate their psychological distress.

Atypical Parathyroid Adenoma in Pregnancy: A Rare Case

Atypical Parathyroid Adenoma in Pregnancy: A Rare Case

Imaging features of atypical adrenocortical adenomas: a radiological-pathological correlation.

Adrenal adenomas are frequently picked up incidentally on cross-sectional imaging and are known to have a classic imaging appearance on CT and MRI. However, not all adrenal adenomas have this typical radiologic appearance. Our aim is to present the radiological features of atypical adrenocortical adenomas with pathological correlation. All the imaging from the pathologically proven adrenal adenoma cases in our hospital (Tallaght University Hospital, Dublin, Ireland) database (from 2004 to 2019) was reviewed. 8 out of 48 cases (16%) had an atypical radiological appearance and were selected for presentation. Eight cases demonstrated atypical radiological features including heterogeneous density, incomplete washout on post-contrast imaging, the presence of macroscopic fat and calcification. Lipomatous metaplasia was present in two of the cases pathologically. Adrenocortical adenomas are the most common adrenal mass encountered on CT, however, may not always have classic imaging features. Radiologists should be familiar with both the typical and atypical imaging manifestations of these benign adrenal lesions. This paper comprehensively describes the atypical features of adrenocortical adenomas with case examples and radiologic-pathologic correlation. Guidelines and an approach to the work-up of adrenal lesions with atypical appearances are also provided.

Establishment and Verification of Scoring System for Colorectal Adenoma Recurrence.

ObjectiveThe purpose of this study was to establish and verify a risk-scoring system for colorectal adenoma recurrence.MethodsA total of 359 patients with colorectal adenoma who underwent polypectomy from October 2017 to December 2018 were included in this retrospective study. Information including taking traditional Chinese medicine, demographic characteristics, adenoma characteristics were collected. The patients will review the colonoscopy one year after surgery. The patients were divided into a modeling cohort (216 cases) and a model validation cohort (143 cases) according to the ratio of 6:4. Modeling and model verification were performed by logistic regression, ROC curve, nomogram (calibration chart) and other methods.ResultsAfter adjusting for confounding factors by logistic regression, it was found that taking Chinese medicine, the number, size, site, pathological type and morphology of adenoma were independent influencing factors for the recurrence of colorectal adenoma. The area under the ROC curve (AUC) in the model validation cohort of established risk scoring system was 0.771 (95% CI: 0.694–0.847), indicating that there was good consistency.ConclusionThe established risk prediction model of colorectal adenoma recurrence and its risk scoring system performed well and had high predictive value.

Impact of Insurance and Income levels on Survival Rates in Prolactinomas

<h3>Purpose/Objective(s)</h3> Prolactinoma is the most common type (∼40%) of functional pituitary adenoma. Patients with prolactinoma generally have a good prognosis with appropriate treatment. However, disparities in insurance and socioeconomic status can influence the outcomes of illnesses that have good prognoses. This study aims to analyze the impact of insurance and socioeconomic status on the survival rates of prolactinoma patients across the United States. <h3>Materials/Methods</h3> Patients with prolactinomas diagnosed from 2004 to 2016 were identified from the National Cancer Database (NCDB). Patients with the histology code 8271 in the target area C75.1 (pituitary gland) were included. Patients with unknown status for age, sex, race, insurance status, income quartile, Charlson-Deyo comorbidity score, treatment modality, or overall survival (OS) were excluded. OS was evaluated with the Kaplan-Meier and Cox proportional hazards methods. <h3>Results</h3> A total of 2391 patients with prolactinomas were identified. The median age was 38 years. 8.1% of patients were uninsured, 64.5% of patients had private insurance or managed care. 13.5% of patients had Medicaid, 12.0% of patients had Medicare, and 1.8% of patients had other government insurance. 72.9% of patients were white, and 19.8% of patients were from households in the lowest income quartile based on 2016 US census data. Using univariate analysis, only median household income quartile was statistically associated with OS: patients in the lowest income quartile (less than $40,277 annually) were associated with poorer OS (HR 1.596, 95% CI 1.03-2.48, <i>P</i> < 0.05) compared to patients in higher income quartiles. With multivariate analysis adjusting for age, sex, race, Charlson-Deyo comorbidity score, and insurance status, statistically significant differences in OS were seen for patients in the lowest income quartile (HR 1.993, 95% CI 1.24-3.21, <i>P</i> < 0.05) compared to patients in higher income quartiles. Poorer outcomes were also associated with older age at diagnosis (HR 1.063, 95% CI 1.05-1.08, <i>P</i> < 0.05) and female sex (HR 1.600, 95% CI 1.12-2.31, <i>P</i> < 0.05). <h3>Conclusion</h3> This NCDB study demonstrates the statistically significant disparity in outcomes for prolactinoma patients in the lower income quartile levels. Since prolactinomas represent the most common form of pituitary tumors, it is important to recognize the impact of income disparity on outcomes and develop strategies to improve clinical outcome for these patients.

Multiple bronchiolar adenomas with malignant transformation and CCNE1 mutation: a case report and literature review

BackgroundBronchiolar adenoma (BA) is a recently proposed diagnostic terminology, which is considered as the expansion of the concept of ciliated muconodular papillary tumors. BA is considered to be a benign neoplasm, but a few previous cases have been reported with the possibility of malignant transformation. Therefore, the genetic and histological nature of BA is controversial so far. We describe a rare case of multiple BAs with malignant transformation and CCNE1 (cyclin E1) mutation to increase the understanding of this disease.Case descriptionA 56-year-old woman was admitted to our hospital due to two ground-glass nodules (GGNs) in the left lung detected by chest CT without symptom. The pure GGN located in the upper lingual segment about 6 mm in diameter and another mixed GGN located in the dorsal segment about 7 mm. The two GGNs have been found a year ago without treatment, and the mixed GGN become larger to 8 mm with vacuole sign in the next year health checkup. We performed a wedge resection of the two nodules completely by video-assisted thoracoscopy (VATS). Postoperative pathology indicated that the pure GGN was atypical bronchial adenoma, while the mixed GGN was atypical bronchial adenoma with malignant transformation which was missed in frozen section. Gene mutations analysis by next-generation sequencing (NGS) showed CCNE1 gene mutation in both lesions, and her-2 mutation was identified in the mixed GGN. The programmed cell death 1 ligand 1 (PD-L1) expression analysis of tumor cells showed 0% and less than 1% in the pure GGN and the mixed GGN, respectively.ConclusionBA is generally considered to be a benign tumor. The present study indicated that BA may be carcinogenic in atypical cases with some driver genes mutation and we should be vigilant for its potentiality of malignant transformation in clinical practice.

Parathyroid Tumors: Molecular Signatures.

Parathyroid tumors are rare endocrine neoplasms affecting 0.1–0.3% of the general population, including benign parathyroid adenomas (PAs; about 98% of cases), intermediate atypical parathyroid adenomas (aPAs; 1.2–1.3% of cases) and malignant metastatic parathyroid carcinomas (PCs; less than 1% of cases). These tumors are characterized by a variable spectrum of clinical phenotypes and an elevated cellular, histological and molecular heterogeneity that make it difficult to pre-operatively distinguish PAs, aPAs and PCs. Thorough knowledge of genetic, epigenetic, and molecular signatures, which characterize different parathyroid tumor subtypes and drive different tumorigeneses, is a key step to identify potential diagnostic biomarkers able to distinguish among different parathyroid neoplastic types, as well as provide novel therapeutic targets and strategies for these rare neoplasms, which are still a clinical and therapeutic challenge. Here, we review the current knowledge on gene mutations and epigenetic changes that have been associated with the development of different clinical types of parathyroid tumors, both in familial and sporadic forms of these endocrine neoplasms.

Management and Outcome of Parathyroid Carcinoma-Induced Primary Hyperparathyroidism: A Single-Centre Experience.

Background Parathyroid carcinoma (PC) is the rarest endocrine cancer and an infrequent cause of primary hyperparathyroidism (PHPT), responsible for less than 1% of cases. Due to its rarity, treatment is challenging. Methods A retrospective cohort study on 462 patients referred for parathyroidectomy to Thyroid and Parathyroid Unit at Santi Paolo e Carlo Hospital, Milan, Italy, from 2011 to 2021. We identified and individually described the patients affected with PC. Then, we split all patients treated for PHPT into four groups based on the cause: PC, adenoma, atypical adenoma, and hyperplasia. Patients' demographics, preoperative evaluation results, intraoperative findings, and outcomes for the PC group were compared with groups of PHPT due to benign causes. Results Eight cases of PC were identified, five males and three females. Seven cases presented with symptoms of hypercalcemia and one with a neck mass. Five underwent en bloc resections and three local excisions. Histopathological features showed capsular invasion in four patients, capsular and soft tissue invasion in three patients, and vascular invasion in one case. No patients had distant metastasis. One patient was classed as high risk based on the Schulte classification system. All patients treated for PC were alive and disease-free at a mean follow-up of 38.4 months. When compared with other PHPT patients, PC patients were more frequently male and had higher preoperative blood calcium and PTH and lower phosphate levels, larger and heavier parathyroids excised, lower postoperative calcium, and a higher rate of postoperative hypoparathyroidism. Conclusion Our study highlights some aspects valuable to suspect PC and differentiate PHPT-PC from benign causes of PHPT preoperatively. Preoperative suspicion of malignancy is essential to guarantee the best course of treatment for patients. Although limited for size and follow-up, the excellent outcome of our series seems to support the value of both surgery extension and risk class according to the Schulte classification as possible prognostic factors for recurrence.

Clinical and genetic characteristics in patients under 30 years with sporadic pituitary adenomas.

Pituitary adenomas (PA) are rare in young patients, and additional studies are needed to fully understand their pathogenesis in this population. We describe the clinical and genetic characteristics of apparently sporadic PA in a cohort of young patients. Clinical and molecular analysis of 235 patients (age ≤ 30 years) with PA. Clinicians from several Spanish and Chilean hospitals provided data. Genetic screening was performed via next-generation sequencing and comparative genomic hybridization array. Clinical variables were compared among paediatric, adolescent (<19 years) and young adults' (≥19-30 years) cohorts and types of adenomas. Phenotype-genotype associations were examined. Among the total cohort, mean age was 17.3 years. Local mass effect symptoms were present in 22.0%, and prolactinomas were the most frequent (44.7%). Disease-causing germline variants were identified in 22 individuals (9.3%), more exactly in 13.1 and 4.7% of the populations aged between 0-19 and 19-30 years, respectively; genetically positive patients were younger at diagnosis and had larger tumour size. Healthy family carriers were also identified. Variants in genes associated with syndromic forms of PAs were detected in a large cohort of apparently sporadic pituitary tumours. We have identified novel variants in well-known genes and set the possibility of incomplete disease penetrance in carriers of MEN1 alterations or a limited clinical expression of the syndrome. Despite the low penetrance observed, screening of AIP and MEN1 variants in young patients and relatives is of clinical value.