scholarly journals Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors

2020 ◽  
Vol 105 (6) ◽  
pp. e2247-e2260 ◽  
Author(s):  
Pedro Marques ◽  
Francisca Caimari ◽  
Laura C Hernández-Ramírez ◽  
David Collier ◽  
Donato Iacovazzo ◽  
...  
Keyword(s):  
Wide Spectrum ◽  
Collaborative Study ◽  
Disease Onset ◽  
Pituitary Tumors ◽  
Clinical Screening ◽  
Cavernous Sinus Invasion ◽  
Pituitary Disease ◽  
Aip Gene ◽  
Suprasellar Extension ◽  
Gh Excess

Abstract Context Germline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene are responsible for a subset of familial isolated pituitary adenoma (FIPA) cases and sporadic pituitary neuroendocrine tumors (PitNETs). Objective To compare prospectively diagnosed AIP mutation-positive (AIPmut) PitNET patients with clinically presenting patients and to compare the clinical characteristics of AIPmut and AIPneg PitNET patients. Design 12-year prospective, observational study. Participants & Setting We studied probands and family members of FIPA kindreds and sporadic patients with disease onset ≤18 years or macroadenomas with onset ≤30 years (n = 1477). This was a collaborative study conducted at referral centers for pituitary diseases. Interventions & Outcome AIP testing and clinical screening for pituitary disease. Comparison of characteristics of prospectively diagnosed (n = 22) vs clinically presenting AIPmut PitNET patients (n = 145), and AIPmut (n = 167) vs AIPneg PitNET patients (n = 1310). Results Prospectively diagnosed AIPmut PitNET patients had smaller lesions with less suprasellar extension or cavernous sinus invasion and required fewer treatments with fewer operations and no radiotherapy compared with clinically presenting cases; there were fewer cases with active disease and hypopituitarism at last follow-up. When comparing AIPmut and AIPneg cases, AIPmut patients were more often males, younger, more often had GH excess, pituitary apoplexy, suprasellar extension, and more patients required multimodal therapy, including radiotherapy. AIPmut patients (n = 136) with GH excess were taller than AIPneg counterparts (n = 650). Conclusions Prospectively diagnosed AIPmut patients show better outcomes than clinically presenting cases, demonstrating the benefits of genetic and clinical screening. AIP-related pituitary disease has a wide spectrum ranging from aggressively growing lesions to stable or indolent disease course.

scholarly journals Aryl Hydrocarbon Receptor-Interacting Protein Gene Mutations in Familial Isolated Pituitary Adenomas: Analysis in 73 Families

2007 ◽  
Vol 92 (5) ◽  
pp. 1891-1896 ◽  
Author(s):  
Adrian F. Daly ◽  
Jean-François Vanbellinghen ◽  
Sok Kean Khoo ◽  
Marie-Lise Jaffrain-Rea ◽  
Luciana A. Naves ◽  
...  
Keyword(s):  
Aryl Hydrocarbon Receptor ◽  
Outcome Measures ◽  
Pituitary Adenomas ◽  
Collaborative Study ◽  
Gene Mutations ◽  
Pituitary Tumors ◽  
Interacting Protein ◽  
Aryl Hydrocarbon ◽  
Aip Gene ◽  
The Impact

Abstract Context: An association between germline aryl hydrocarbon receptor-interacting protein (AIP) gene mutations and pituitary adenomas was recently shown. Objective: The objective of the study was to assess the frequency of AIP gene mutations in a large cohort of patients with familial isolated pituitary adenoma (FIPA). Design: This was a multicenter, international, collaborative study. Setting: The study was conducted in 34 university endocrinology and genetics departments in nine countries. Patients: Affected members from each FIPA family were studied. Relatives of patients with AIP mutations underwent AIP sequence analysis. Main Outcome Measures: Presence/absence and description of AIP gene mutations were the main outcome measures. Intervention: There was no intervention. Results: Seventy-three FIPA families were identified, with 156 patients with pituitary adenomas; the FIPA cohort was evenly divided between families with homogeneous and heterogeneous tumor expression. Eleven FIPA families had 10 germline AIP mutations. Nine mutations, R16H, G47_R54del, Q142X, E174frameshift, Q217X, Q239X, K241E, R271W, and Q285frameshift, have not been described previously. Tumors were significantly larger (P = 0.0005) and diagnosed at a younger age (P = 0.0006) in AIP mutation-positive vs. mutation-negative subjects. Somatotropinomas predominated among FIPA families with AIP mutations, but mixed GH/prolactin-secreting tumors, prolactinomas, and nonsecreting adenomas were also noted. Approximately 85% of the FIPA cohort and 50% of those with familial somatotropinomas were negative for AIP mutations. Conclusions: AIP mutations, of which nine new mutations have been described here, occur in approximately 15% of FIPA families. Although pituitary tumors occurring in association with AIP mutations are predominantly somatotropinomas, other tumor types are also seen. Further study of the impact of AIP mutations on protein expression and activity is necessary to elucidate their role in pituitary tumorigenesis in FIPA.

Adult systemic lupus erythematosus in Egypt: The nation-wide spectrum of 3661 patients and world-wide standpoint

Lupus ◽  
2021 ◽  
pp. 096120332110142
Author(s):  
Tamer A Gheita ◽  
Rasha Abdel Noor ◽  
Esam Abualfadl ◽  
Osama S Abousehly ◽  
Iman I El-Gazzar ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Age Of Onset ◽  
Wide Spectrum ◽  
Age At Onset ◽  
Disease Onset ◽  
Clinical Manifestations ◽  
Population Based ◽  
Systemic Lupus ◽  
Cross Sectional

Objective The aim of this study was to present the epidemiology, clinical manifestations and treatment pattern of systemic lupus erythematosus (SLE) in Egyptian patients over the country and compare the findings to large cohorts worldwide. Objectives were extended to focus on the age at onset and gender driven influence on the disease characteristics. Patients and method This population-based, multicenter, cross-sectional study included 3661 adult SLE patients from Egyptian rheumatology departments across the nation. Demographic, clinical, and therapeutic data were assessed for all patients. Results The study included 3661 patients; 3296 females and 365 males (9.03:1) and the median age was 30 years (17–79 years), disease duration 4 years (0–75 years) while the median age at disease onset was 25 years (4–75 years). The overall estimated prevalence of adult SLE in Egypt was 6.1/100,000 population (1.2/100,000 males and 11.3/100,000 females).There were 316 (8.6%) juvenile-onset (Jo-SLE) and 3345 adult-onset (Ao-SLE). Age at onset was highest in South and lowest in Cairo (p < 0.0001). Conclusion SLE in Egypt had a wide variety of clinical and immunological manifestations, with some similarities with that in other nations and differences within the same country. The clinical characteristics, autoantibodies and comorbidities are comparable between Ao-SLE and Jo-SLE. The frequency of various clinical and immunological manifestations varied between gender. Additional studies are needed to determine the underlying factors contributing to gender and age of onset differences.

Experience of Endoscopic Endonasal Approach for 803 Pituitary Tumors With Cavernous Sinus Invasion

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Haibo Zhu ◽  
Chuzhong Li ◽  
Songbai Gui ◽  
Xinsheng Wang ◽  
Xuyi Zong ◽  
...  
Keyword(s):  
Cavernous Sinus ◽  
Pituitary Tumors ◽  
Endoscopic Endonasal Approach ◽  
Endonasal Approach ◽  
Endoscopic Endonasal ◽  
Cavernous Sinus Invasion

scholarly journals Genetic and metabolic characteristics of familial isolated pituitary adenomas

2013 ◽  
Vol 10 (2) ◽  
pp. 3-10 ◽  
Author(s):  
N S Dalantaeva ◽  
I I Dedov
Keyword(s):  
Pituitary Adenomas ◽  
Pituitary Tumors ◽  
Suppressor Gene ◽  
Carney Complex ◽  
Incomplete Penetrance ◽  
Chromosome 11 ◽  
Gene Encoding ◽  
Metabolic Characteristics ◽  
Aryl Hydrocarbon ◽  
Aip Gene

Familial isolated pituitary adenoma (FIPA) – a relatively new term for the disease, which is characterized by an autosomal dominant inheritance with incomplete penetrance, resulting in the development of pituitary tumors with no distinguishing features other endocrine diseases or syndromes, such as, for example, the syndrome multiple endocrine neoplasia type 1 (MEN-1 syndrome) or the Carney complex. FIPA-families account for about 2% of all cases of pituitary adenomas. Among the FIPA-family about 15–20% have mutations in the gene encoding the protein aryl hydrocarbon receptor. This suppressor gene located on the long arm of chromosome 11. Etiological gene for the rest of the greater percentage of FIPA-family is still unknown. Germline mutations in the AIP gene have also been found in patients with early development of pituitary adenomas, mainly secreting growth hormone, much rarely – prolactin and adrenocorticotropic hormone without a clear family history. Such cases are called "simple". Somatic mutations of the AIP gene in pituitary tumors or other sites has not yet been described

Pituitary Disorders

2016 ◽  
pp. 191-202
Author(s):  
Pankaj Shah
Keyword(s):  
Metastatic Disease ◽  
Anterior Pituitary ◽  
Pituitary Tumors ◽  
Pituitary Hormones ◽  
Pituitary Cells ◽  
Pituitary Disease ◽  
Tissue Resistance ◽  
Common Causes ◽  
Sheehan Syndrome ◽  
Pituitary Infarction

Hypopituitarism usually results from a deficiency of anterior pituitary hormones or, rarely, from tissue resistance to these hormones. Deficiency may be from primary pituitary disease, pituitary stalk disorders, hypothalamic disease, or an extrasellar disorder impinging on, or infiltrating, the hypothalamic-pituitary unit. Primary pituitary disease results from the loss of anterior pituitary cells and may be congenital or acquired. Common causes are pituitary tumors and their surgical or radiotherapeutic ablation. Infrequent causes include pituitary infarction (eg, postpartum pituitary necrosis, also known as Sheehan syndrome), pituitary apoplexy, lymphocytic hypophysitis, infiltrative diseases (eg, hemochromatosis), and metastatic disease (eg, from breast or lung).

scholarly journals Cavernous sinus invasion by pituitary macroadenomas: neuroradiological, clinical and surgical correlation

1998 ◽  
Vol 56 (1) ◽  
pp. 107-110 ◽  
Author(s):  
ARTHUR CUKIERT ◽  
MARIO ANDRIOLI ◽  
JAYME GOLDMAN ◽  
MARCIA NERY ◽  
LUIS SALGADO ◽  
...  
Keyword(s):  
Carotid Artery ◽  
Cavernous Sinus ◽  
Gold Standard ◽  
Pituitary Tumors ◽  
Medial Wall ◽  
Cavernous Sinus Invasion ◽  
Mri Features ◽  
Pituitary Macroadenomas

The classical imaging gold-standard for this diagnosis is the presence of tumor lateral to the carotid artery. Seventeen patients with pituitary macroadenomas with intraoperative confirmation of cavernous sinus invasion were studied with MRI. Only 8 patients had tumor lateral to the carotid artery; 13 had tumor within the carotid syphon and all lacked the ring enhancement of the medial wall of the cavernous sinus. In 10 patients, widening of the posterior double leaflets of the cavernous sinus could be. All patients were operated by the transesphenoidal route. Only one patient was cured by surgery alone. Only 3 patients disclosing the above mentioned MRI features were identified in a series of 250 patients and did not have cavernous sinus invasion. The present criteria proved to be useful in the pre-operative diagnosis of cavenous sinus invasion and patients' counselling. Pre-operative diagnosis of cavernous sinus invasion of pituitary tumors has a great impact in the management of such patients.

scholarly journals Aggressive pituitary adenomas occurring in young patients in a large Polynesian kindred with a germline R271W mutation in the AIP gene

2009 ◽  
Vol 161 (5) ◽  
pp. 799-804 ◽  
Author(s):  
Juliet E Jennings ◽  
Marianthi Georgitsi ◽  
Ian Holdaway ◽  
Adrian F Daly ◽  
Maria Tichomirowa ◽  
...  
Keyword(s):  
Pituitary Adenomas ◽  
Index Case ◽  
Young Patients ◽  
Case Series ◽  
Pituitary Tumors ◽  
Maximum Diameter ◽  
Interacting Protein ◽  
Functional Studies ◽  
Aryl Hydrocarbon ◽  
Aip Gene

ObjectiveMutations in the aryl hydrocarbon receptor-interacting protein (AIP) were recently shown to confer a pituitary adenoma predisposition in patients with familial isolated pituitary adenomas (FIPA). We report a large Samoan FIPA kindred from Australia/New Zealand with an R271W mutation that was associated with aggressive pituitary tumors.Design and methodsCase series with germline screening of AIP and haplotype analyses among R271W families.ResultsThis previously unreported kindred consisted of three affected individuals that either presented with or had first symptoms of a pituitary macroadenoma in late childhood or adolescence. The index case, a 15-year-old male with incipient gigantism and his maternal aunt, had somatotropinomas, and the maternal uncle of the index case had a prolactinoma. All tumors were large (15, 40, and 60 mm maximum diameter) and two required transcranial surgery and radiotherapy. All three affected subjects and ten other unaffected relatives were found to be positive for a germline R271W AIP mutation. Comparison of the single nucleotide polymorphism patterns among this family and two previously reported European FIPA families with the same R271W mutation demonstrated no common ancestry.ConclusionsThis kindred exemplifies the aggressive features of pituitary adenomas associated with AIP mutations, while genetic analyses among three R271W FIPA families indicate that R271W represents a mutational hotspot that should be studied further in functional studies.

scholarly journals The Medical Treatment of the Hypersecreting Pituitary Gland

1985 ◽  
Vol 12 (3) ◽  
pp. 243-250 ◽  
Author(s):  
Bernard Corenblum
Keyword(s):  
Clinical Improvement ◽  
Medical Therapy ◽  
Pituitary Adenomas ◽  
Clinical Symptoms ◽  
Pituitary Tumors ◽  
Serum Prolactin ◽  
Metabolic Complications ◽  
Pharmacological Agents ◽  
Neurological Effects ◽  
Suprasellar Extension

ABSTRACT:Pituitary adenomas may produce local endocrine and neurological effects, as well as systemic metabolic complications due to hormonal hypersecretion. Medical therapy with pharmacological agents has been developed and is based on the neurotransmitter regulation of normal pituitary hormonal secretion. 189 patients with secretory pituitary adenomas underwent medical therapy for the hypersecretory state. 156 of these were prolactin-secreting adenomas, 16 of which were in males. The response of bromocriptine was almost universal with lowering of serum prolactin and reversal of the clinical symptoms, as well as tumor shrinkage of most large adenomas with suprasellar extension. 23 patients with acromegaly were treated with bromocriptine, with 11 noting clinical improvement, and decreased tumor size in two. Five patients with Cushing’s disease were treated with cyproheptadine, with only one showing a biochemical and clinical improvement. Two patients with Nelson’s syndrome each had progressive tumor growth stabilized with cyproheptadine and bromocriptine in one, and sodium valproate in the other. There appears to be a role for medical therapy in the majority of prolactin-secreting pituitary tumors, some growth hormone secreting pituitary tumors, and selected adrenocorticotropin secreting-pituitary tumors.

scholarly journals Snare technique for the remodeling of the redundant arachnoid pouch to prevent cerebrospinal fluid rhinorrhea and hematoma collection during transsphenoidal surgery for suprasellar-extended pituitary tumors

2016 ◽  
Vol 125 (6) ◽  
pp. 1443-1450 ◽  
Author(s):  
Ju Hyung Moon ◽  
Eui Hyun Kim ◽  
Sun Ho Kim
Keyword(s):  
Transsphenoidal Surgery ◽  
Tumor Resection ◽  
Pituitary Tumors ◽  
Csf Leak ◽  
Arachnoid Membrane ◽  
Csf Rhinorrhea ◽  
Resection Cavity ◽  
Postoperative Hematoma ◽  
Csf Leakage ◽  
Suprasellar Extension

OBJECTIVE Transsphenoidal surgery (TSS) is considered a most effective treatment for pituitary tumors with huge suprasellar extension. However, the chance of developing CSF leakage is relatively high, because tearing of the arachnoid membrane is common and there could be multiple tear points during the dissection of suprasellar tumors from the overlying arachnoid membrane. If there are multiple leaking points in the arachnoid membrane packing methods such as using fat or multilayered fascia graft may not be sufficient to seal off the leaking points. Moreover, the packing material may not provide sufficient tamponade to stop bleeding, and thus generates postoperative hematoma formation in the tumor resection cavity. To prevent these complications, the authors have developed a new technique for remodeling the redundant arachnoid pouch (the so-called snare technique) to reconstruct the diaphragm, seal off the CSF leak points completely, and reduce the dead space in the tumor resection cavity. METHODS In 9 patients with huge macroadenomas (> 2.5 cm in diameter) with suprasellar extension, the snare technique was used to remodel the arachnoid pouch after tumor removal via standard TSS between July 2009 and August 2014. Complications were investigated, including postoperative CSF rhinorrhea, postoperative hematoma collection, and visual compromise. RESULTS During the resection of the tumor, CSF leakage was encountered in 8 cases, all of which were sealed off using the snare technique. In 1 case without intraoperative CSF leakage, the snare technique was also applied after intentional puncturing of the arachnoid membrane to reduce the volume and tension of the arachnoid pouch. None of the 9 patients experienced postoperative CSF rhinorrhea. Lumbar CSF drainage was not required in any case. Magnetic resonance imaging studies performed 24 hours after surgery revealed a remarkable reduction in the height of the diaphragm in all cases. Visual deficits improved in all patients immediately after surgery. CONCLUSIONS Remodeling of the arachnoid pouch using the snare technique is simple and effective for completely sealing off the CSF leak point and preventing hematoma collection in the tumor resection cavity after TSS for huge pituitary tumors with suprasellar extension.

Polyamine Levels in CSF From Patients With Pituitary Tumors or Nonneoplastic Pituitary Disease

1982 ◽  
Vol 39 (1) ◽  
pp. 47-48 ◽  
Author(s):  
D. S. Fulton ◽  
L. J. Marton ◽  
W. P. Lubich ◽  
C. B. Wilson
Keyword(s):  
Pituitary Tumors ◽  
Pituitary Disease
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