Excision Of Adenoma Research Articles

Sinonasal Complications of Combined Transseptal–Transnasal and Bilateral Transnasal Approaches for Endoscopic Endonasal Transsphenoidal Pituitary Surgery

BackgroundThe endoscopic combined transseptal–transnasal technique for pituitary adenoma excision is notable for enhanced postoperative functional outcomes. Our study compared the incidence of anterior nasal septal perforation and the resulting sinonasal complications between this method and the bilateral transnasal approach. MethodsUtilizing a retrospective cohort from a preeminent tertiary referral center, we analyzed 141 cases of endoscopic endonasal transsphenoidal surgery performed between March 2018 and May 2023. Outcomes for the transseptal–transnasal group (n = 71) and the conventional bilateral transnasal group (n = 70) were compared. Nasal endoscopy and computed tomography were used to assess anterior nasal septal perforation. Functional outcomes were assessed preoperatively and at 6 months postoperatively using the Connecticut Chemosensory Clinical Research Center (CCCRC) test, Cross-Cultural Smell Identification Test (CCSIT), Sino-Nasal Outcome Test-22 (SNOT-22), and nasal obstruction symptom evaluation (NOSE) ResultsThe transseptal–transnasal approach exhibited reduced rates of postoperative ear fullness (p < 0.001), along with fewer subjective complaints of smell/taste loss (p = 0.022) and thick nasal discharge (p = 0.008), compared to the conventional approach. However, objective smell test results were not significantly different between the two approaches (p = 0.243 and p = 0.454 for CCCRC and CCSIT, respectively). Additionally, although statistically insignificant, a higher incidence of anterior septal perforation was observed with the transseptal–transnasal approach (p = 0.067). ConclusionFor the surgical treatment of pituitary adenomas, the transseptal–transnasal approach offers several advantages over the bilateral transnasal method, particularly in reducing postoperative complications. However, this technique requires careful attention for preventing the occurrence of anterior septal perforation.

Is Orbital Lobe of the Lacrimal Gland Dispensable? Tear Volume, Ocular Surface, and MRI Volumetric Analysis.

To investigate the effects of lacrimal gland reduction surgeries on the tear volume and ocular surface. This is a cohort study of patients post 2 lacrimal gland reduction surgeries: partial orbital lobe dacryoadenectomy for refractory epiphora (4 patients, mean age: 31 ± 13.6 years, 3 males) and complete orbital lobe dacryoadenectomy for lacrimal gland pleomorphic adenoma (15 patients, mean age: 41 ± 12 years, 7 females). Changes in Schirmer I, ocular surface staining, symptomatology, and lacrimal gland volumetrics (MRI) were assessed before and after the surgical procedure. The median Schirmer value reduction following partial orbital lobe dacryoadenectomy was 5 mm at a mean follow-up of 18 ± 4.9 months. None of them developed dry eye disease or positive ocular staining. The gland volume was reduced by 45.9% to 53.5% in 3 patients and 13.3% in 1 patient. The epiphora improved moderately in 93% of patients. Of 15 patients with lacrimal gland pleomorphic adenoma excision, the median reduction in Schirmer I was 4 mm at a mean follow-up of 12.8 months. Partial or complete removal of the orbital lobe of the lacrimal gland does not induce dry eye disease in otherwise healthy individuals. However, gland volume does not recover following partial reduction, and it seems unlikely that the lacrimal gland regenerates following partial removal.

Left Thoracoscopic Robot-Assisted Excision of a Left Lower Paratracheal Parathyroid Adenoma for Cure of Primary Hyperparathyroidism

We present a case of a 38-year-old male patient with symptomatic hypercalcemia secondary to primary hyperparathyroidism. After evaluation, the source of the excess parathyroid hormone was found to be an adenoma localized to the middle mediastinum. Specifically, it was located in the left paratracheal space along the lesser curve of the aortic arch. We discuss this case with a corresponding video to demonstrate the necessary equipment and setup as well as the 5 operative steps recommended to access this paratracheal subaortic location from a minimally invasive transthoracic approach. The pitfalls for this operation are also discussed. The purpose is to make this operation more reproducible for other surgeons.

Unravelling a hidden pathology of a vertebral fracture in a teenage girl

BackgroundAlthough the skeleton remains a common target of primary hyperparathyroidism, the classic bone disease “osteitis fibrosa cystica” is currently rare due to early diagnosis. This case represents severe classic bone manifestations of primary hyperparathyroidism due to delayed diagnosis and delayed medical attention.Case presentationA 19-year-old young female was symptomatically managed for chronic back pain and nonspecific bone pain in the small joints of both hands over 2 months by a general practitioner. The patient had delayed seeking for treatment for 3 months. Later, she was evaluated for tuberculosis, hematological malignancies and rheumatic disorders following a fractured T12 vertebra and underwent pedicle screw fixation. However, clinical examination and investigations, including biochemistry, imaging and histology, ruled out the above conditions. Unfortunately, serum calcium level was not performed at the initial presentation. Later, primary hyperparathyroidism was diagnosed on the basis of moderate hypercalcaemia and elevated intact PTH levels (2064 pg/ml). She had sufficient vitamin D levels and normal kidney function. Her DXA scan revealed severe secondary osteoporosis with the lowest Z score of -8 at the total lumbar spine. Ultrasonography of the thyroid revealed a hypo echoic mass in the left lower neck, and localization studies with technetium-99 m sestamibi and 4D-CT revealed a left inferior parathyroid adenoma (1.6 × 1.5 × 1.6 cm). CT scan also revealed brown tumors in the mandible and vertebrae and diffuse bony changes in the skull, sternum, humerus and vertebrae. Her radiographs revealed subperiosteal bone resorption on the radial aspects of the middle and distal phalanges and brown tumors in both the ulna and fibula. We excluded MEN and other hereditary syndromes in our patient with a personal and family history and with a normal pituitary hormone profile because of poor resources for genetic testing. She underwent parathyroid adenoma excision, and the postoperative period was complicated with hungry bone syndrome, requiring high doses of calcium and active vitamin D supplements. These supplements were gradually weaned off over 6 months, and she recovered with normal biochemical investigations. Histology revealed parathyroid adenoma without malignant features.ConclusionIn developing countries where routine calcium screening is not available, clinicians should be aware of various manifestations of primary hyperparathyroidism to allow diagnosis as soon as possible without delay to prevent further progression, as it is a treatable condition.

World premiere: transoral robot-assisted excision for nasopharyngeal ectopic pituitary adenoma.

Pituitary adenoma (PA), though rare, has seen increased incidence with widespread MRI use, enabling incidental diagnosis. Prevalence is approximately 1 case per 1000 in the general population. PAs are benign neoplasms, constituting 10 to 20% of intracranial tumours. Ectopic pituitary adenoma developed outside the sella turcica is exceptional. It may be hormonally active or not. These are called nonfunctional pituitary adenomas. Here is reported a case of a man in his eighties with a nasopharyngeal ectopic pituitary adenoma treated by robot-assisted excision using a combined route. CARE guidelines have been respected. A man in his eighties, asymptomatic, underwent an MRI for dizziness, revealing a nasopharyngeal mass. Despite being asymptomatic, nasofibroscopy revealed a reddish oval-shaped tissue mass attached to the roof of the nasopharynx. Biopsy identified a neuroendocrine tumor G1/G2. Imaging showed no local invasion or distant metastases. A multidisciplinary team decided on a robot-assisted surgical excision through the mouth, coupled with nasal endoscopy. The procedure achieved complete excision with clear margins and no adverse event has occurred. This unique case involved the successful transoral robot-assisted excision of a nasopharyngeal ectopic pituitary adenoma, highlighting an innovative surgical approach.

Correlation of pre-operative and post-operative retinal nerve fibre layer thickness with visual outcome following decompression of pituitary macroadenoma

ObjectiveTo (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. MethodsPreoperative 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. ResultsA 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. ConclusionRNFL 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.

Multiple pathological fractures with a hidden aetiology

Bone disease is a well-recognised complication of primary hyperparathyroidism (PHPT). With early diagnosis of PHPT, florid bony changes such as brown tumours, lytic lesions and pathological fractures are rarely seen now. Here, we report an unusual presentation of PHPT in the current era. A 47-year-old lady was evaluated for multiple fragility fractures. Biochemical assessment confirmed primary hyperparathyroidism. DEXA scan showed severe osteoporosis. Left parathyroid adenoma was localised with imaging. She had multiple brown tumours. She underwent parathyroid adenoma excision and recovered after surgery with improved quality of life. Proper evaluation for secondary causes of osteoporosis is vital especially in premenopausal women. Early diagnosis and treatment of PHPT prevent disastrous complications.

Quantitative Assessment of Visual Field Recovery Following Transspheniodal Pituitary Adenoma Excision and its Time Course

Background: Pituitary adenomas are a significant subset of intracranial tumors, constituting approximately 10-15% of all primary brain tumors. These benign tumors often lead to various clinical symptoms, including hormonal imbalances and visual field defects due to optic chiasm compression. The transsphenoidal approach for pituitary adenoma excision is favored for its minimal invasiveness and favorable outcomes. However, the timeline and extent of visual field recovery post-surgery remain areas of active research. Objective: This study aimed to quantitatively assess and track visual field recovery in patients following transsphenoidal pituitary adenoma excision and to identify factors influencing the recovery process. Methods: This descriptive observational study was conducted at the Department of Neurosurgery, Pakistan Institute of Medical Sciences (PIMS), Islamabad, from June 16, 2023, to March 31, 2024. Forty-six consecutive patients, aged 18-70 years, who underwent transsphenoidal pituitary adenoma excision and had documented visual field impairments, were included. Exclusion criteria were previous pituitary surgery, pre-existing visual field abnormalities not attributable to pituitary adenoma, and inability to perform visual field testing. Preoperative visual field measurements were taken within two weeks before surgery using Humphrey visual field testing. Postoperative evaluations were performed immediately after surgery (within 48 hours), and at one month, two months, and three months. Visual field indices, including mean deviation (MD) and pattern standard deviation (PSD), were recorded. Data were analyzed using SPSS version 25, with descriptive statistics for patient demographics and tumor characteristics, and inferential statistics (Student's t-test and chi-square test) for comparing visual field indices. Results: The study included 23 male and 23 female patients, with a mean age of 52.3 years (SD ± 8.7). Tumor size averaged 2.7 cm (SD ± 0.9). Non-functioning tumors comprised 65.2% of cases. Preoperative hormonal dysfunction was present in 39.1% of patients. Preoperative visual field indices showed a mean MD of -5.2 dB (SD ± 2.1). Visual field improvement was noted postoperatively, with mean MD values of -4.0 dB (SD ± 1.8) at 48 hours, -3.5 dB (SD ± 1.7) at one month, -2.8 dB (SD ± 1.5) at two months, and -2.2 dB (SD ± 1.3) at three months. Endoscopic surgery was performed in 82.6% of cases, with a gross total resection rate of 69.6%. Postoperative complications included CSF leaks (13%) and hypopituitarism (26.1%). Conclusion: The study demonstrated significant visual field recovery in patients following transsphenoidal pituitary adenoma excision, with notable improvements observed within the first three months post-surgery. These findings support the efficacy of the transsphenoidal approach in improving visual outcomes and highlight the importance of early intervention and comprehensive postoperative monitoring.

Management Modalities of Aggressive Brown Tumor of the Jaws-a Case Series.

Primary hyperparathyroidism is an endocrine disorder occurring due to increased secretion of parathormone resulting in clinical, anatomical, and biochemical alterations. On the other hand, excision of a parathyroid adenoma can normalize the metabolic status. Brown tumors represent the terminal stage of the remodeling processes during primary or secondary hyperparathyroidism. They are erosive bony lesions caused by rapid osteolysis and peritrabecular fibrosis, resulting in a local destructive phenomenon. Facial skeleton is involved in about 2% of all cases of which the mandible is frequently affected. We report a case series of four patients who presented with brown tumor of both maxilla and mandible. A complete assessment of the medical history, blood investigations and radiological findings combined with biopsy results is necessary for a correct diagnosis. The standard treatment of the Brown tumors is not a surgical resection, but the treatment of the cause of the tumor, which in this case is hyperparathyroidism. However in our case, the extent of the lesion and the non resolution after the parathyroidectomy necessitated a surgical approach in two of our patients however two responded well to medical management alone.

The Importance of Level of Drop of Intra-operative Parathyroid Hormone in Predicting Recurrence After Parathyroidectomy for Primary Hyperparathyroidism

Background: During parathyroidectomy for hyperparathyroidism, intraoperative parathyroid hormone (IOPTH) levels are used to confirm excision of parathyroid adenoma. A drop in IOPTH level of 50% or drop to a normal level is associated with a high cure rate. However, there are still a number of patients who fit this criterion who have recurrent hyperparathyroidism. The authors hypothesize that a drop in PTH to a level below 4 pmol/l (37.72 pg/mL) rather than just a 50% drop would decrease the rate of recurrence disease. Methods: The authors conducted a retrospective review of consecutive patients who underwent surgery for parathyroid adenoma between March 2015 and December 2018. Parathyroidectomy was performed with curative parathyroidectomy defined as drop in IOPTH below 4 pmol/l (37.72 pg/mL) after 10-15minutes from excision (2-3 half-life periods of PTH) of abnormal Parathyroid gland. Results: 72 patients were identified who underwent Parathyroidectomy for primary hyperparathyroidism during the study period. Post resection IOPTH levels below 4 pmol/l correctly predicted an operative success rate near 100% in the cohort. Contrarily IOPTH level drop more than 50% but above a level of 4 pmol/l (9 cases) was associated with an additional unidentified Parathyroid adenoma in 7 cases. Conclusions: Post parathyroidectomy drop in IOPTH level below 4 pmol/l appears to be more predictive of successful treatment for primary hyperparathyroidism related to parathyroid adenoma compared to standard criteria.

The Outcome of Local Excision of Rectal Adenomas with High-Grade Dysplasia by Transanal Endoscopic Microsurgery: A Single-Center Experience.

Background: Local excision by transanal endoscopic microsurgery (TEM) is considered an acceptable treatment for rectal adenomas with high-grade dysplasia (HGD). This study aims to assess the likelihood of harboring an invasive carcinoma in preoperatively diagnosed HGD polyps and evaluate the risk factors for tumor recurrence in patients with final HGD pathology. Methods: Data from patients who underwent TEM procedures for adenomatous lesions with HGD from 2005 to 2018 at the Rabin Medical Center, Hasharon Hospital, were analyzed. Collected data included patient demographics, preoperative workup, tumor characteristics and postoperative results. Follow-up data including recurrence assessment and further treatments were reviewed. The analysis included two subsets: preoperative pathology of HGD (sub-group 1) and postoperative final pathology of HGD (sub-group 2) patients. Results: Forty-five patients were included in the study. Thirty-six patients had a preoperative diagnosis of HGD, with thirteen (36%) showing postoperative invasive carcinoma. Thirty-two patients had a final pathology of HGD, and three (9.4%) experienced tumor recurrence. Large tumor size (>5 cm) was significantly associated with recurrence (p = 0.03). Conclusions: HGD rectal polyps are associated with a significant risk of invasive cancer. Tumor size was a significant factor in predicting tumor recurrence in patients with postoperative HGD pathology. The TEM procedure is an effective first-line treatment for such lesions.

Simultaneous Papillary Thyroid Carcinoma and Primary Hyperparathyroidism: Unusual Presentation

The coexistence of Primary Hyperparathyroidism (PHPT) with Papillary Thyroid Carcinoma (PTC) is a rare clinical occurrence. Thyroid pathology is reported in 20% to 84% of Primary Hyperparathyroidism (PHPT) cases, with malignancies identified in 2% to 20% of instances. We report a case of a 49-year-old woman referred for evaluation of left iliac wing and hip pain with elevated parathyroid hormone levels. Imaging revealed a toxic multinodular goiter with a parathyroid adenoma. The patient underwent total thyroidectomy with parathyroid adenoma excision. Subsequent histological examination unexpectedly identified a papillary thyroid microcarcinoma associated with the parathyroid adenoma. The association between PHPT and PTC is complex, influenced by shared embryological origins and genetic factors. Elevated PTH levels in PHPT may contribute to thyroid cell proliferation, and hypercalcemia is suggested to promote thyroid carcinogenesis. Molecular analyses suggest the involvement of pathways like MAPK and Wnt/β-catenin. The coexistence of PHPT and PTC highlights the necessity for thorough preoperative assessment and the ongoing need for research. While minimally invasive parathyroid surgery is favored, the risks associated with coexisting thyroid pathology should be carefully considered. Routine thyroid ultrasonography in PHPT patients is crucial to exclude nodular thyroid disease, emphasizing the role of research in guiding clinical practices. A balanced approach integrating technical advancements and thoughtful risk assessment is essential in navigating this complex clinical scenario.

Pleomorphic Adenoma of the Soft Palate: The Pillars of Reconstruction

Salivary gland tumour contributed less than 5% of all head and neck tumours. The most common benign tumour of the salivary glands is pleomorphic adenoma. Palate is the common subsite in the oral cavity affected by this tumour. We herein discussed a case of pleomorphic adenoma of the soft palate and the reconstruction dilemma. A 41-year-old male presented with soft palate swelling, which gradually increasing in size in the last 5 years. Intraoral examination revealed well defined, 3x3 cm circumscribed mass at the soft palate, not crossing the midline, encroaching the hard palate, but spared the retromolar trigone and gingivobuccal sulcus. Incisional biopsy performed and histopathological examination showed features of pleomorphic adenoma. He underwent wide local excision of the pleomorphic adenoma with reconstruction using buccal myomucosal flap. Buccal flap was an excellent choice due to its proximity with good recovery. Pleomorphic adenoma of minor salivary gland of the soft palate was managed by complete excision but reconstructing the palatal defect was the cornerstone of managing this tumour. The aim was to preserve functionality and to prevent velopharyngeal insufficiency. Buccal myomucosal flap offered both advantageous, in addition to its proximity to the defect with negligible donor morbidity.

Primary hyperparathyroidism presenting as slipped capital femoral epiphysis; a case report and literature review

Primary hyperparathyroidism associated with slipped capital femoral epiphysis (SCFE) is rare. We report a case of a 14-year-old girl who presented with limping of gait and was diagnosed to have bilateral SCFE and underwent screw fixation of both hips. She had pain involving multiple joints and tenderness on further evaluation and was found to have biochemical hyperparathyroidism. The patient was initially managed medically, and further investigations revealed a parathyroid lesion in the right superior location. Workup for multiple endocrine neoplasia was negative. She underwent right superior parathyroid adenoma excision, and post-operatively, she was cured of the disease. On follow-up, she is asymptomatic, and her calcium is within normal limits. A literature review showed that SCFE is associated with severe hyperparathyroidism in adolescents.

Trans-anal endoscopic microsurgery for non- adenomatous rectal lesions.

Trans-anal endoscopic microsurgery (TEM) enables a good visualization of the surgical field and is considered the method of choice for excision of adenomas and early T1 rectal cancer. The rectum and retro-rectal space might be the origin of uncommon neoplasms, benign and aggressive, certain require radical trans-abdominal surgery, while others can be treated by a less aggressive approach. In this study we report outcomes in patients undergoing TEM for rare and non-adenomatous rectal and retro-rectal lesions over a period of 11 years. To report outcomes in patients undergoing TEM for rare and non-adenomatous rectal and retro-rectal lesions over a period of 11 years. Between January 2008 to December 2019 a retrospective analysis was completed for all patients who underwent TEM for non-adenomatous rectal lesion or retro-rectal mass in our institution. Patients were discharged once diet was well tolerated and no complications were identified. They were evaluated at 3 wk post operatively, then at 3-mo intervals for the first 2 years and every 6 mo depending on the nature of the final pathology. Clinical examination and rectoscopy were performed during each of the follow-up visits. Out of 198 patients who underwent TEM during the study period, 18 had non-adenomatous rectal or retro-rectal lesions. Mean age was 47 years. The mean size of the lesions was 2.9 mm, with a mean distance from the anal margin of 7.9 cm. Mean surgical time was 97.8 min. There were no intra-operative neither late post-operative complications. Mean length of stay was 2.5 d. Mean patient follow-up duration was 42 mo. TEM allows for reduced morbidity given its minimally invasive nature. Surgeons should be familiar with the technique but careful patient selection should be considered. It can be used safely for uncommon rectal and selected retro-rectal lesions without compromising outcomes. We believe that it should be reasonably considered as one of the surgical methods when treating rare lesions.

Open versus Endoscopic and Microscopic Pituitary Adenoma Excision– An Institutional Experience

Introduction: For symptomatic nonsecreting pituitary adenomas (PAs), surgical resection remains the treatment of choice. In this retrospective study, we compare the efficacy of open versus endoscopic and microscopic excision of pituitary adenoma, and to evaluate the merits and demerits of each approach. Material and Methods: This study is a retrospective analysis of patients who underwent surgical excision for symptomatic pituitary adenoma in institute of neurosurgery, madras medical college from January 2022 to December 2022. Various parameters were analyzed including the age, sex, type of surgical resection done, duration of surgery, average blood loss, extent of resection of tumors, and intra- and post-operative complication. Results: A total of thirty eight patients with pituitary adenoma were operated from January 2022 to December 2022. Six patients were operated by endonasal endoscopic transsphenoidal surgery and six patients were operated by microscopic transsphenoidal surgery, 26 patients were operated by Pterional craniotomy and excision of tumour. In an endoscopic and microscopic group, complete tumor excision was achieved in 8 patients (66.6%) and in open surgery group, it was achieved in 6 (23.1%) patients. In endoscopic and microscopic group, the mean operative time was 120 ± 25 min (ranged 80–135 min) and in open surgery group, it was 150 ± 15 min (ranged 130–175 min). In endoscopic and microscopic group, mean blood loss was 120 ± 30 ml (80–160 ml), and in open surgery group, it was 200 ± 15 (150–230 ml). Postoperative CSF leak from wound site was present in 1 case in open surgery group. There was no mortality in either group. Duration of hospital stay was 5 days in endoscopic and microscopic group and 14 days for open surgery group. Conclusion: Endoscopic and microscopic approach provides a wide surgical field and broad lateral vision making easier distinction of tumor tissues. Thus, there is less blood loss, less operative time, less postoperative complication, and early discharge from the hospital.

SAT186 Young Patient With Primary Hyperparathyroidism And Mutation Of CDKN1B Gene MEN 4 Variant

Abstract Disclosure: J.J. Faria Briceno: None. S.S. Jande: None. T. Lairmore: None. R.R. Yatavelli: None. Background: Parathyroid adenomas are the most common cause of primary hyperparathyroidism (PHPT)accounting for 80-85% of the cases. PHPT most commonly manifests between 50-60 years of age and when it presents at younger age, it can be associated with inherited genetic conditions like multiple endocrine neoplasia or Hyperparathyroid Jaw tumor syndrome. Clinical Case: A 34-year-old male without significant past medical history was noted to have elevated serum calcium on routine lab work and was advised to promptly go to the emergency room for further evaluation. In the ED, the patient’s corrected calcium was 13.8 mg/dL (normal range 8.7 - 10.5 mg/dL), ionized calcium elevated at 1.77 mmol/L (normal range 0.90 - 1.20 mmol/L), PTH was 786.2 pg/mL (normal range 9 - 77 pg/mL). The patient denied any history of fractures, kidney stones or bone pain. Patient was treated medically with IV fluids and calcium lowering agents. Given the elevated PTH, ultrasonography of the neck was done which revealed an oval, hypoechoic lesion measuring 1.2 x 2.25 cm with increased vascular flow posterior to the right thyroid lobe consistent with parathyroid adenoma. Parathyroidectomy was performed with excision of right inferior parathyroid adenoma measuring 2.7 x 1.2 x 0.6 cm (1.25 grams). The preoperative PTH level was 997.7 pg/mL, which rapidly improved 20 minutes post tumor excision to 75.9 pg/mL, a 90% fall in PTH level suggestive of successful tumor excision. The patient’s post-operative period was uneventful. Considering the very young age of presentation; hyperparathyroidism genetic panel was obtained to rule out any inherited conditions like MEN1 or Hyperparathyroid Jaw tumor syndrome. Genetic testing revealed a germline missense mutation in CKDN1B (variant c.287C &amp;gt, heterozygous) and classified as Variant of Uncertain significance). Mutations in the cyclic dependence kinase inhibitor 1B (CDKN1B) have been identified as the culprit for tumor growth seen in multiple endocrine neoplasia 4. MEN4 is a rare autosomal dominant endocrine tumor syndrome characterized by hyperparathyroidism and pituitary adenomas. The variant described in our patient has classically not been associated with other tumors and the available evidence is currently insufficient to determine the role of this variant in disease and hence classified as Variant of Uncertain Significance. Conclusion: Genetic testing should be considered in patients with primary hyperparathyroidism who present at very young age or have multiglandular disease. Our patient does not have any other classic features of MEN 4 and as the genetic mutation is classified as Variant of Uncertain Significance, patient would be monitored clinically, and caution exercised before using this result to inform clinical management decisions. Presentation: Saturday, June 17, 2023

Metachronous Colorectal Adenomas Occur Close to the Index Lesion.

The aim of this study is to assess the spatial relationship between index and metachronous colorectal adenoma location. After the complete excision of a human sporadic colorectal adenoma, patients are at elevated risk of developing a further metachronous adenoma. Data regarding the occurrence site of a metachronous colorectal adenoma relative to the index adenoma are scarce. Prospectively maintained databases were interrogated to identify all colonoscopies and adenoma excisions performed over a 10-year period at a single university teaching hospital. Data for the colonic segments at which adenoma removal were reported at index and all subsequent colonoscopies were extracted and 2 allied data sets merged. A total of 15,121 colonoscopies and 4759 polyp events were recorded. Four hundred fifty-two patients [296 male, 156 female, median (range) age 75 (32 to 100) y] developed at least 1 metachronous adenoma at follow-up colonoscopy. When single index events only are considered (ie, synchronous adenoma cases excluded), over 61% of metachronous adenomas were recorded in the same or an adjacent colonic segment. When the full span of the colon is considered, metachronous adenomas were more likely to occur in a section of the colon proximal to that of the index adenoma (41%±5%) than the same (39%±5%) or distal segment (20%±5%; P=0.006; 1-way χ2 test). A metachronous human sporadic colorectal adenoma is more likely to be found in the same colonic segment to that of the index adenoma or 1 immediately adjacent. These data suggest a shared origin of metachronous adenoma with preceding lesions, supporting the existence of precancerous fields.

Comparison of Sinonasal Outcomes in Patients Undergoing Uni-nostril and Bi-nostril Endoscopic Trans-sphenoidal Excision of Pituitary Adenomas: A Prospective Study.

Background Prospective studies comparing quality-of-life and olfaction in patients undergoing endoscopic uni-nostril versus bi-nostril trans-sphenoidal pituitary surgery have not been published. Methods We prospectively compared olfaction and quality-of-life at baseline and at 3 to 6 months follow-up using the Anterior Skull Base Nasal Inventory-12 (ASK-12) questionnaire, composite olfaction score, and Lund-Kennedy Endoscopic Score (LKES) in 43 patients who underwent endoscopic excision of pituitary adenoma with either a uni-nostril (24 patients) or a bi-nostril (19 patients) approach. Results Baseline data for both groups were comparable. In the uni-nostril group, ASK-12 and LKES scores were not significantly different at follow-up when compared with the preoperative scores. In the bi-nostril group, there was a significant postoperative worsening of ASK-12 scores (mean: 3.2 vs. 5.3; p = 0.04) and the LKES (mean: 2.9 vs. 6.6; p = 0.01). Composite olfaction score was not significantly affected postoperatively with either approach. Nasal complications were also more in the bi-nostril group (5/18, 27.8% vs. 1/23, 4.3%) but this was not statistically significant ( p = 0.07). Conclusion Both approaches preserve olfactory function but the uni-nostril approach is associated with better postoperative quality-of-life and endoscopic scores and subjective olfaction outcomes. At least in short term, the postoperative morbidity is higher in the bi-nostril approach compared with the uni-nostril approach. Although preference for a particular approach is related to a surgeon's preference, preoperative counselling of the patients regarding sinonasal morbidity is important.

Endocrinologic Outcome Following Endonasal Transphenoidal Excision of Growth Hormone Secreting Pituitary Adenomas

Background: Endonasal Transphenoidal Approach for excision of pituitary adenomas has been gaining popularity over the traditional microsurgical approach. The objective of this study is to assess the rate of hormonal recovery following endonasal transphenoidal excision of growth hormone secreting pituitary macroadenoma in out center. Methods: In this prospective observational study all cases subjected to endonasal transphenoidal excision of growth hormone secreting pituitary adenoma, during the study period from January 2019 to December 2020 at National Neurosurgical Referral Center, Bir Hospital, Kathmandu were included in this study. Preoperative and postoperative patient characteristics were recorded. Hormonal remission was defined as normal insulin-like growth factor-1 level at 3 months follow-up. Results: A total of 24 cases were included. The mean age of acromegaly cases was 39.42±10.41 years (24-56 years), with male to female ratio of 0.71:1. Majority (9) of cases had a Knosp grade 1.Thirteen cases had a Wilson-Hardy Extension Grade 0. Majority (11) of cases had a Wilson-Hardy Invasion Grade I. Three cases developed post-operative CSF leak, which recovered after lumbar drainage with no sequel. Five cases developed epistaxis which resolved with nasal packing. Sixty three percent (15 cases) had normal IGF-1 levels at 3 months follow up. Conclusion: Endoscopic endonasal transphenoidal approach to excision of growth hormone secreting pituitary adenomas is a safe and effective modality at achieving hormonal control in our setting.