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Pituitary Jun 2024Pregnancy is a known risk factor for Pituitary Apoplexy (PA) but there is a lack of consistency in the literature regarding non-gestational risk factors responsible for... (Review)
Review
PURPOSE
Pregnancy is a known risk factor for Pituitary Apoplexy (PA) but there is a lack of consistency in the literature regarding non-gestational risk factors responsible for PA.
METHODS
We did a systematic review following PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines to identify the non-gestational risk factors associated with the development of PA in adult patients with pituitary adenoma. Also, we discuss here a case of an elderly female with pituitary macroadenoma who was initially planned for pituitary resection electively but underwent emergency surgery after she developed PA.
RESULTS
As per screening and eligibility criteria, seven studies with 4937 study participants were included in this systematic review out of which 490 (9.92%) patients had PA, including asymptomatic subclinical PA (SPA) and symptomatic clinical PA (CPA). The macroadenomas and negative staining of the tumor were found to be a significant risk factor consistently in multivariate analysis in three and two retrospective studies, respectively. However, the results were varied for any significant difference in the risk factors for apoplexy between SPA and CPA. Similarly, there was no consistency among the studies for risk factors significantly responsible for CPA or PA compared to controls.
CONCLUSION
No single non-gestational risk factor is solely responsible for the development of PA in a pituitary adenoma compared to the control population. Tumor size (macroadenoma) and the non-functioning status of the adenoma are the only significant factors contributing independently toward an apoplectic event in most patients. Such patients can be prioritized for early pituitary tumor resection.
PubMed: 38935252
DOI: 10.1007/s11102-024-01412-0 -
Head and Neck Pathology Jun 2024Intraductal carcinoma (IDC) of the salivary glands is a confounding entity, our understanding of which continues to evolve. At least four forms have been elucidated...
BACKGROUND
Intraductal carcinoma (IDC) of the salivary glands is a confounding entity, our understanding of which continues to evolve. At least four forms have been elucidated based on histomorphology, immunophenotype, and molecular profile: (1) intercalated duct-like, S100/SOX10+ with frequent NCOA4::RET fusions; (2) oncocytic, S100/SOX10+ with TRIM33::RET, NCOA4::RET, and BRAF V600E; (3) apocrine, AR+ with PI3 kinase pathway mutations; and (4) mixed/hybrid intercalated duct-like/apocrine, with S100/SOX10+ and AR+ areas and frequent TRIM27::RET. The revelation that myoepithelial cells harbor the same fusion as luminal cells suggested that fusion-positive cases are not in situ carcinomas as previously believed. To this point, purely apocrine IDC with entirely intraductal growth has not been found to harbor fusions, but very few cases have been tested.
METHODS
IDCs with pure apocrine morphology, entirely intraductal growth, and no precursor lesion (pleomorphic adenoma or sclerosing polycystic adenoma) were retrieved from the authors' archives. Several immunostains (S100, SOX10, GCDFP-15, AR, p40/SMA) and targeted next generation sequencing (NGS) panel including 1425 cancer-related genes were performed.
RESULTS
Seven entirely IDC with pure apocrine type were collected. The cases arose in the parotid glands (mean, 1.9 cm) of 5 men and 2 women ranging from 51 to 84 years (mean, 69.7 years). Histologically, tumors consisted of rounded to angulated ductal cysts lined by epithelial cells with abundant finely granular eosinophilic cytoplasm and large nuclei with prominent nucleoli. Pleomorphism was mild to moderate, the mitotic rate was low, and necrosis was absent. Conventionally invasive foci or areas of intercalated duct-like morphology were not identified. In all cases, luminal cells were diffusely positive for AR and GCDFP-15 while negative for S100/SOX10, and the ducts were completely surrounded by myoepithelial cells highlighted by p40 and SMA. Molecular analysis was successful in 6 cases. Three harbored fusions: one with NCOA4::RET, another with STRN::ALK and one with both CDKN2A::CNTRL and TANC1::YY1AP1. The three fusion-negative cases all harbored HRAS mutations; additional mutations (PIK3CA, SPEN, ATM) were found in 2 of 3 cases. All patients were treated by surgery alone. Six of them are currently free of disease (follow up 12-190 months), but the case harboring NCOA4::RET developed lymph nodes metastasis in the form of a fusion-positive invasive salivary duct carcinoma.
CONCLUSIONS
Purely apocrine IDC is a heterogeneous disease. A subset seems to be genetically similar to salivary duct carcinoma and may indeed represent carcinoma in situ. The other group harbors fusions, similar to other forms of IDC. Moreover, the occurrence of lymph node metastasis discredits the idea that any fusion-positive IDC with a complete myoepithelial cell layer has no metastatic potential. With the wide use of RET-and ALK-based targeted therapies, our findings further underscore the importance of fusion analysis for IDC.
Topics: Humans; Male; Middle Aged; Aged; Female; Salivary Gland Neoplasms; Aged, 80 and over; Carcinoma, Intraductal, Noninfiltrating; Biomarkers, Tumor; Adult; Carcinoma, Ductal
PubMed: 38935197
DOI: 10.1007/s12105-024-01653-2 -
Tidsskrift For Den Norske Laegeforening... Jun 2024Vulvar leiomyoma is rare and is often misdiagnosed as a cyst or abscess in the Bartholin's glands. Other causes of benign tumours of the vulva are Gartner's duct cysts,...
Vulvar leiomyoma is rare and is often misdiagnosed as a cyst or abscess in the Bartholin's glands. Other causes of benign tumours of the vulva are Gartner's duct cysts, fibromas, fibroadenomas, lipomas and hamartomas. Adenoma was the tentative diagnosis is this case history, but the histology showed a benign leiomyoma.
Topics: Humans; Female; Vulvar Neoplasms; Leiomyoma; Adult; Middle Aged; Diagnosis, Differential
PubMed: 38934324
DOI: 10.4045/tidsskr.23.0818 -
Neuro-ophthalmology (Aeolus Press) 2024See-saw nystagmus (SSN) is a rare form of nystagmus characterised by alternating elevation with incyclotorsion of one eye and concomitant depression with excyclotorsion...
See-saw nystagmus (SSN) is a rare form of nystagmus characterised by alternating elevation with incyclotorsion of one eye and concomitant depression with excyclotorsion of the other eye, often due to abnormalities involving the midbrain and parasellar region. Herein, we highlight a rare case of pendular SSN, which demonstrated complete resolution following resection of a pituitary macroadenoma. A patient in their 40s was identified to have SSN and was diagnosed with a pituitary macroadenoma. They underwent an endoscopic endonasal transsellar approach for resection of the pituitary adenoma. Their nystagmus resolved immediately after surgery. From a review of the literature, resolution and/or significant improvement in SSN occurred in 74% of cases following treatment, with 100%, 86% and 50% following treatment for medication-induced, neurological infarcts, and mass-effect aetiologies of SSN, respectively. SSN is a rare entity with a wide array of aetiologies. Identification of the causative aetiology and appropriate treatment can lead to significant improvement or resolution of the nystagmus in most cases.
PubMed: 38933752
DOI: 10.1080/01658107.2023.2299763 -
Acta Endocrinologica (Bucharest,... 2023Primary hyperparathyroidism may have several presentations, varying from an incidental asymptomatic biochemical finding to gastrointestinal, psychiatric, renal and bone...
INTRODUCTION
Primary hyperparathyroidism may have several presentations, varying from an incidental asymptomatic biochemical finding to gastrointestinal, psychiatric, renal and bone manifestations. Brown tumors are rare non-neoplastic lesions because of abnormal bone metabolism. Herein, we describe a patient who presented with lytic bony lesions and severe asymptomatic hypercalcemia due to parathyroid adenoma.
CASE PRESENTATION
A 38-year-old male presented with multiple painful bony lesions over upper and lower limbs. Radiographs of long bones showed multiple lytic lesions with cortical thinning. Investigations revealed hypercalcemia and hyperparathyroidism. A radionuclide scan showed parathyroid adenoma. The patient was treated for hypercalcemia and a parathyroidectomy was performed.
CONCLUSIONS
In a patient presenting with multiple bony swellings and asymptomatic hypercalcemia, hyperparathyroidism should be suspected. Parathyroid adenoma is a treatable cause of primary hyperparathyroidism.
PubMed: 38933239
DOI: 10.4183/aeb.2023.508 -
Life (Basel, Switzerland) Jun 2024Salivary glands tumors are uncommon neoplasms with variable incidence, heterogenous histologies and unpredictable biological behaviour. Most tumors are located in the... (Review)
Review
Salivary glands tumors are uncommon neoplasms with variable incidence, heterogenous histologies and unpredictable biological behaviour. Most tumors are located in the parotid gland. Benign salivary tumors represent 54-79% of cases and pleomorphic adenoma is frequently diagnosed in this group. Salivary glands malignant tumors that are more commonly diagnosed are adenoid cystic carcinomas and mucoepidermoid carcinomas. Because of their diversity and overlapping features, these tumors require complex methods of evaluation. Diagnostic procedures include imaging techniques combined with clinical examination, fine needle aspiration and histopathological investigation of the excised specimens. This narrative review describes the advances in the diagnosis methods of these unusual tumors-from histomorphology to artificial intelligence algorithms.
PubMed: 38929710
DOI: 10.3390/life14060727 -
Life (Basel, Switzerland) May 2024Adenoma detection rate (ADR) is challenging to measure, given its dependency on pathology reporting. Polyp detection rate (PDR) (percentage of screening colonoscopies...
Adenoma detection rate (ADR) is challenging to measure, given its dependency on pathology reporting. Polyp detection rate (PDR) (percentage of screening colonoscopies detecting a polyp) is a proposed alternative to overcome this issue. Overall PDR from all colonoscopies is a relatively novel concept, with no large-scale studies comparing overall PDR with screening-only PDR. The aim of the study was to compare PDR from screening, surveillance, and diagnostic indications with overall PDR and evaluate any correlation between individual endoscopist PDR by indication to determine if overall PDR can be a valuable surrogate for screening PDR. Our study analyzed a prospectively collected national endoscopy database maintained by the National Institute of Health from 2009 to 2014. Out of 354,505 colonoscopies performed between 2009-2014, 298,920 ( = 110,794 average-risk screening, = 83,556 average-risk surveillance, = 104,770 diagnostic) met inclusion criteria. The median screening PDR was 25.45 (IQR 13.15-39.60), comparable with the median overall PDR of 24.01 (IQR 11.46-35.86, = 0.21). Median surveillance PDR was higher at 33.73 (IQR 16.92-47.01), and median diagnostic PDR was lower at 19.35 (IQR 9.66-29.17), compared with median overall PDR 24.01 (IQR 11.46-35.86; < 0.01). The overall PDR showed excellent concordance with screening, surveillance, and diagnostic PDR (r > 0.85, < 0.01, 2-tailed). The overall PDR is a reliable and pragmatic surrogate for screening PDR and can be measured in real time, irrespective of colonoscopy indication.
PubMed: 38929637
DOI: 10.3390/life14060654 -
Medicina (Kaunas, Lithuania) May 2024: Mucin has been implicated via various mechanisms in the development and growth of tumour cells. However, mucin expression studies in salivary gland tumours are...
: Mucin has been implicated via various mechanisms in the development and growth of tumour cells. However, mucin expression studies in salivary gland tumours are limited, especially with samples from minor salivary glands. This study aims to investigate and compare mucin expression in benign and malignant salivary gland tumours of minor and major salivary gland origins. : Special stains were used to stain neutral mucin (Periodic acid Schiff), sialomucin (Alcian Blue) and sulfomucin (Aldehyde Fuschin) within tissues from six normal salivary glands and 73 salivary gland tumours including 31 pleomorphic adenomas, 27 mucoepidermoid carcinomas, and 15 adenoid cystic carcinomas. A semi-quantitative approach was used to evaluate mucin expression within ductal lumens. Sialomucin was the most expressed mucin in all salivary gland tumours, regardless of origin. : A significant difference was observed in the mucin expression between benign and malignant salivary gland tumours, as pleomorphic adenoma showed three times significantly higher expression of sialomucin compared to mucoepidermoid carcinoma and adenoid cystic carcinoma ( = 0.028). Pleomorphic adenomas of major glands showed 42 times significantly higher expression of sialomucin compared to those of minor glands ( = 0.000). : Sialomucin content in pleomorphic adenomas of major glands was vastly increased compared to that in minor glands. Differential sialomucin expression in benign and malignant salivary gland tumours suggests a role in diagnosing of borderline salivary gland tumours.
Topics: Humans; Salivary Gland Neoplasms; Mucins; Male; Female; Adenoma, Pleomorphic; Middle Aged; Carcinoma, Mucoepidermoid; Adult; Aged; Carcinoma, Adenoid Cystic; Sialomucins
PubMed: 38929537
DOI: 10.3390/medicina60060920 -
Cancers Jun 2024The prediction of the regrowth potential of pituitary adenomas after surgery is challenging. The genome-wide DNA methylation profiling of pituitary adenomas may separate...
BACKGROUND
The prediction of the regrowth potential of pituitary adenomas after surgery is challenging. The genome-wide DNA methylation profiling of pituitary adenomas may separate adenomas into distinct methylation classes corresponding to histology-based subtypes. Specific genes and differentially methylated probes involving regrowth have been proposed, but no study has linked this epigenetic variance with regrowth potential and the clinical heterogeneity of nonfunctioning pituitary adenomas. This study aimed to investigate whether DNA methylation profiling can be useful as a clinical prognostic marker.
METHODS
A DNA methylation analysis by Illumina's MethylationEPIC array was performed on 54 pituitary macroadenomas from patients who underwent transsphenoidal surgery during 2007-2017. Twelve patients were excluded due to an incomplete postoperative follow-up, degenerated biobank-stored tissue, or low DNA methylation quality. For the quantitative measurement of the tumor regrowth rate, we conducted a 3D volumetric analysis of tumor remnant volume via annual magnetic resonance imaging. A linear mixed effects model was used to examine whether different DNA methylation clusters had different regrowth patterns.
RESULTS
The DNA methylation profiling of 42 tissue samples showed robust DNA methylation clusters, comparable with previous findings. The subgroup of 33 nonfunctioning pituitary adenomas of an SF1-lineage showed five subclusters with an approximately unbiased score of 86%. There were no overall statistically significant differences when comparing hazard ratios for regrowth of 100%, 50%, or 0%. Despite this, plots of correlated survival estimates suggested higher regrowth rates for some clusters. The mixed effects model of accumulated regrowth similarly showed tendencies toward an association between specific DNA methylation clusters and regrowth potential.
CONCLUSION
The DNA methylation profiling of nonfunctioning pituitary adenomas may potentially identify adenomas with increased growth and recurrence potential. Larger validation studies are needed to confirm the findings from this explorative pilot study.
PubMed: 38927917
DOI: 10.3390/cancers16122210 -
Biomedicines Jun 2024Hypothyroidism is a frequently diagnosed endocrine disorder. Common signs and symptoms include fatigue, cold intolerance, hoarseness, dry skin, constipation, a slow...
Hypothyroidism is a frequently diagnosed endocrine disorder. Common signs and symptoms include fatigue, cold intolerance, hoarseness, dry skin, constipation, a slow relaxation phase of deep tendon reflexes, and bradycardia. However, some patients may exhibit atypical signs and symptoms, which can result in diagnostic confusion. Pituitary hyperplasia resulting from longstanding primary hypothyroidism was first described by Niepce in 1851. It is usually asymptomatic, but sometimes, in addition to symptoms of overt hypothyroidism, patients may complain of headaches, hypopituitarism, visual field impairment, and hyperprolactinemia. Furthermore, on imaging, pituitary hyperplasia can be mistaken for a pituitary adenoma. Distinguishing between the two is crucial, as their management differs; the former often responds to thyroid hormone replacement therapy, while the latter might need treatment with surgery and/or radiotherapy. Here we describe a patient who developed pituitary hyperplasia in the setting of longstanding uncompensated primary hypothyroidism due to a lack of compliance with levothyroxine replacement therapy. We also review the clinical, laboratory, and radiologic findings of the case reports available in the literature up to now in order to improve the knowledge and the care of the disease.
PubMed: 38927575
DOI: 10.3390/biomedicines12061368