Synchronous esthesioneuroblastoma and growth-hormone-secreting pituitary macroadenoma: combined open and endoscopic management.
ABSTRACT: Background Esthesioneuroblastoma is an uncommon malignant neoplasm that arises from the olfactory neuroepithelium. In this article we report a case of esthesioneuroblastoma presenting concomitantly with a growth-hormone (GH)-secreting pituitary macroadenoma. Results A 52 year old woman underwent surgery for suspected nasal polyps. Intralesional debulking of an intranasal tumor disclosed a low-grade esthesioneuroblastoma. Magnetic resonance imaging (MRI) demonstrated a large nasal and intracranial tumor, in addition to a separate sellar and suprasellar tumor. The patient was frankly acromegalic. She underwent a first-stage gross total resection of the esthesioneuroblastoma via a combined extended subfrontal and extended endonasal approach, followed by focused radiation therapy. She then returned for endoscopic removal of the GH-secreting pituitary macroadenoma. Conclusion The combined open and endoscopic management of this patient is described and a review of the literature presented. To our knowledge this is the first case of synchronous esthesioneuroblastoma and macroadenoma, in this case GH secreting, described in the literature.
Project description:Objectives We present a case of olfactory preservation after a unilateral transcribriform transethmoidal endoscopic resection of esthesioneuroblastoma. We also discuss the oncologic results of endoscopic and transcranial approaches and describe the potential benefits and limitations of an endoscopic approach. Setting Single academic medical center. Participant and Design The clinical course of a 28-year-old patient who underwent endoscopic en bloc resection of esthesioneuroblastoma through a unilateral transcribriform transethmoidal approach was reviewed. Results Imaging demonstrated a left-sided nasal mass with cribriform plate involvement (Kadish C). Intraoperatively, the left olfactory bulb and epithelium were sacrificed. Negative frozen sections were obtained from the right olfactory epithelium and dura surrounding the right olfactory bulb. Reconstruction was performed using a multilayered closure of fascia, rigid buttress, and nasoseptal flap. Histology was consistent with esthesioneuroblastoma. Postoperative clinical evaluation, endoscopy, and magnetic resonance imaging demonstrated no evidence of residual or recurrent tumor at 18 months. The UPSIT smell testing revealed normal olfaction preoperatively, moderate microsomia at 3 months postoperatively, and mild microsomia at 18 months postoperatively. Conclusions Endoscopic resection of esthesioneuroblastoma has demonstrated similar oncologic control while reducing postoperative morbidity and mortality over transcranial approaches. This case reveals the potential to preserve olfaction while achieving en bloc endoscopic resection of early stage esthesioneuroblastoma.
Project description:Objective:Acromegaly is a classic endocrine disorder caused by a growth hormone (GH)-secreting pituitary adenoma in an overwhelming majority of patients. The diagnosis may be delayed by several years due to the slow growing and insidious nature of the disease. Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder characterized by multiple renal cysts and various other systemic manifestations. The purpose of this article is to report a rare case of acromegaly with coexistent ADPKD. Methods:We report a case of 42-year-old female with acromegaly and ADPKD along with a brief review of literature. Results:The patient was referred to us for evaluation of progressive acral enlargement and coarsening of facial features. Endocrine evaluation confirmed the diagnosis of acromegaly due to an underlying GH-secreting pituitary macroadenoma. She was also found to have ADPKD. We discuss the clinical features and management of the patient. Conclusion:The association of pituitary adenomas and ADPKD is very rare and interesting. All affected individuals with pituitary adenomas and ADPKD in the literature are women. Furthermore, all reported pituitary adenomas in these individuals (including ours) are functional GH-secreting ones. These findings argue against a mere chance association between the two diseases.
Project description:BACKGROUND:Mutations in the subunits B, C, and D of succinate dehydrogenase (SDH) mitochondrial complex II have been associated with the development of paragangliomas (PGL), gastrointestinal stromal tumors, papillary thyroid and renal carcinoma (SDHB), and testicular seminoma (SDHD). AIM:Our aim was to examine the possible causative link between SDHD inactivation and somatotropinoma. PATIENTS AND METHODS:A 37-yr-old male presented with acromegaly and hypertension. Other family members were found with PGL. Elevated plasma and urinary levels of catecholamines led to the identification of multiple PGL in the proband in the neck, thorax, and abdomen. Adrenalectomy was performed for bilateral pheochromocytomas (PHEO). A GH-secreting macroadenoma was also found and partially removed via transsphenoidal surgery (TTS). Genetic analysis revealed a novel SDHD mutation (c.298_301delACTC), leading to a frame shift and a premature stop codon at position 133 of the protein. Loss of heterozygosity for the SDHD genetic locus was shown in the GH-secreting adenoma. Down-regulation of SDHD protein in the GH-secreting adenoma by immunoblotting and immunohistochemistry was found. A literature search identified other cases of multiple PGL and/or PHEO in association with pituitary tumors. CONCLUSION:We describe the first kindred with a germline SDHD pathogenic mutation, inherited PGL, and acromegaly due to a GH-producing pituitary adenoma. SDHD loss of heterozygosity, down-regulation of protein in the GH-secreting adenoma, and decreased SDH enzymatic activity supports SDHD's involvement in the pituitary tumor formation in this patient. Older cases of multiple PGL and PHEO and pituitary tumors in the literature support a possible association between SDH defects and pituitary tumorigenesis.
Project description:Esthesioneuroblastoma as a source of ectopic Cushing's syndrome is rare, and to the best of our knowledge, only 20 cases have been reported worldwide. A 46-year-old healthy man visited a local clinic for general weakness and hyposmia, and underwent examination with serial endocrinological workup and brain imaging. 68Gallium-DOTA-TOC positron emission tomography scan was helpful where diagnosis of sellar MRI and inferior petrosal sinus sampling were discordant. Combined transcranial and endoscopic endonasal approach surgery was performed, and a diagnosis of esthesioneuroblastoma was given.
Project description:Background: Pituitary disorders spectrum includes a wide variety of diseases.This study aimed at a comprehensive description of such disorders for patients from Faiha Specialized Diabetes, Endocrine and Metabolism Center (FDEMC) in Basrah (Southern Iraq). Methods: Retrospective data analysis of FDEMC for the period from January 2012 through June 2017. We included all patients with pituitary disorders who have MRI pituitary. Results: The pituitary disorders were more common among women. Those with macroadenoma were older than those with microadenoma with nearly equal gender prevalence of macroadenoma. Pituitary adenoma constituted the bulk of pituitary disorders in this registry (67.2%). Growth hormone secreting adenoma were the commonest adenoma seen in 41.0% followed by clinically non-functioning pituitary adenoma(NFPA)in 31.4% and prolactinoma in 26.9%. About 64.8% of pituitary adenoma was macroadenoma. Macroadenoma was seen in 73.4 % of growth hormone secreting adenoma, 61.2% in NFPA and 62.0% of prolactinoma (of them six were giant prolactinoma) Conclusion: Pituitary adenoma constituted the bulk of pituitary disorders in Basrah, growth hormone secreting adenoma is the commonest adenoma followed by NFPA and prolactinoma due to referral bias. A change in practice of pituitary adenoma treatment is needed.
Project description:Long-acting pasireotide and bromocriptine provided biochemical control of growth hormone and prolactin in a patient with plurihormonal pituitary macroadenoma, allowing near-complete tumor excision while restoring pituitary function and avoiding adjunctive radiotherapy. Pasireotide initiation resulted in hyperglycemia, which stabilized after a few months and resolved upon pasireotide discontinuation (ACCESS; NCT01995734).
Project description:BACKGROUND:To compare the effects of contemporary stereotactic radiosurgery (SRS), modern fractionated radiotherapy (FRT), and transsphenoidal surgery on nonfunctioning pituitary macroadenoma. METHODS:We enrolled patients with nonfunctioning pituitary macroadenoma. To compare treatment outcomes, the patients were categorized into three groups according to the treatment modality: group 1, patients receiving modern FRT; group 2, patients receiving contemporary SRS; and group 3, patients receiving transsphenoidal surgery. RESULTS:In total, 548 patients with nonfunctioning pituitary macroadenoma were selected for our study. Univariate and multivariate Cox regression analysis results indicated that the treatment modalities were significant independent prognostic factors. In multivariable Cox proportional hazard regression analysis, the adjusted hazard ratios (aHR; 95% confidence interval (CI)) of local recurrence were 0.27 (0.10-0.91) and 1.95 (1.25-2.37) for the SRS and transsphenoidal surgery cohorts, respectively, in comparison with the FRT cohort. The aHR (95% CI) of all-cause mortality was 1.03 (0.68-1.56) for the transsphenoidal surgery cohort in comparison with the FRT cohort, without statistical significance. However, the aHR (95% CI) of all-cause mortality was 0.36 (0.15-0.85) for the SRS cohort in comparison with the FRT cohort. CONCLUSION:Contemporary SRS has optimal effects on local recurrence and survival compared with modern FRT and transsphenoidal surgery. Modern FRT is associated with more favorable local control and equal survival compared with transsphenoidal surgery.
Project description:The standard treatment for esthesioneuroblastoma, a rare malignant nasal vault neoplasm, is not established.We retrospectively assessed the clinicopathological features, prognostic factors and treatment methods for 187 patients with esthesioneuroblastoma treated in China between 1981 and 2015. Overall survival (OS) and disease-free survival (DFS) were evaluated using the Kaplan-Meier method and log-rank tests.Twenty-three (12.3%), 48 (25.7%) and 113 (60.4%) patients had Kadish stage A, B and C esthesioneuroblastoma; 3 (1.6%) had unknown stage. Overall, 117 (62.6%) patients received surgery and combined radiotherapy with or without chemotherapy; 35 (18.7%) received radiotherapy with or without chemotherapy; 32 (17.1%) received surgery alone; and 3 (1.6%) received palliative treatment. Three-year OS and DFS for the entire cohort were 66.7% and 57.5%, respectively. Three-year OS for stage A, B and C were 91.3%, 91.2% and 49.5% (P < 0.0001). Three-year OS was 16.7% and 66.7% for patients with and without distant metastasis (P < 0.0001). Surgery and combined radiotherapy with or without chemotherapy led to better OS and DFS than other treatment modes (both P < 0.0001). Univariate and multivariate analysis showed distant metastasis (hazard ratio [HR] = 2.162, 95% confidence interval [CI] = 1.145, 4.082, P = 0.017) and not receiving a combined modality treatment (HR = 2.391, 95% CI = 1.356, 4.218, P = 0.003) were independent prognostic factors for poor OS and DFS.This study indicates surgery and combined radiotherapy may currently be the optimal treatment for esthesioneuroblastoma.
Project description:OBJECTIVE: Improvement of visual field defects continues even years after the initial surgical treatment. Because this process of continuing improvement has not been documented for visual acuity, we audited our data to explore the pattern of recovery of visual acuity until 1 year after transsphenoidal surgery for non-functioning pituitary macroadenoma. DESIGN: Retrospective follow-up study. PATIENTS: Forty-three patients (mean age 56 +/- 14 years), treated by transsphenoidal surgery for non-functioning pituitary macroadenoma, were included in this analysis. RESULTS: Visual acuity improved significantly within 3 months after transsphenoidal surgery. The mean visual acuity increased from 0.65 +/- 0.37 to 0.75 +/- 0.36 (P < 0.01) (right eye), and from 0.60 +/- 0.32 to 0.82 +/- 0.30 (P < 0.01) (left eye). Visual acuity was improved 1 year after transsphenoidal surgery compared to the 3 months postoperative values. The mean visual acuity increased from 0.75 +/- 0.36 to 0.82 +/- 0.34 (P < 0.05) (right eye), and from 0.82 +/- 0.30 to 0.88 +/- 0.27 (P < 0.05) (left eye). CONCLUSION: Visual acuity improves progressively after surgical treatment for non-functioning pituitary macroadenomas, at least within the first year after transsphenoidal surgery.
Project description:A 39-year-old woman with autosomal dominant polycystic kidney disease (ADPKD) presented with acromegaly and a pituitary macroadenoma. There was a family history of this renal disorder. She had undergone surgery for pituitary adenoma 6 years prior. Physical examination disclosed bitemporal hemianopsia and elevation of both basal growth hormone (GH) 106 ng/mL (normal 0-5) and insulin-like growth factor (IGF-1) 811 ng/mL (normal 48-255) blood levels. A magnetic resonance imaging scan disclosed a 3.0 cm sellar and suprasellar mass with both optic chiasm compression and left cavernous sinus invasion. Pathologic, cytogenetic, molecular and in silico analysis was undertaken. Histologic, immunohistochemical and ultrastructural studies of the lesion disclosed a sparsely granulated somatotroph adenoma. Standard chromosome analysis on the blood sample showed no abnormality. Sequence analysis of the coding regions of PKD1 and PKD2 employing DNA from both peripheral leukocytes and the tumor revealed the most common PKD1 mutation, 5014_5015delAG. Analysis of the entire SSTR5 gene disclosed the variant c.142C>A (p.L48M, rs4988483) in the heterozygous state in both blood and tumor, while no pathogenic mutations were noted in the MEN1, AIP, p27Kip1 and SSTR2 genes. To our knowledge, this is the fourth reported case of a GH-producing pituitary adenoma associated with ADPKD, but the first subjected to extensive morphological, ultrastructural, cytogenetic and molecular studies. The physical proximity of the PKD1 and SSTR5 genes on chromosome 16 suggests a causal relationship between ADPKD and somatotroph adenoma.