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Fulltext Clinically functioning gonadotropin-secreting pituitary adenoma

Alnasrallah N, Aljenaee K, AlMurshed M, Hajji S

Endocrinol Diabetes Metab Case Rep, 2024 Jan 01;2024(1).
PMID: 38513365 DOI: 10.1530/EDM-22-0322

SUMMARY: Gonadotroph adenomas are the most common type of nonfunctional pituitary adenomas. However, functioning gonadotroph adenomas causing clinical manifestations are rare. We present the case of a 42-year-old man with an incidental finding of a pituitary gland mass. A pituitary MRI revealed a 3 cm macroadenoma, and laboratory investigations revealed elevated follicle-stimulating hormone (FSH) and total testosterone levels. A diagnosis of functioning FSH-secreting pituitary adenoma was considered, with possible concomitant luteinizing hormone secretion, given the elevated testosterone, prompting further evaluation. Testicular ultrasound showed bilaterally enlarged testicles, and visual field testing revealed a monocular superior temporal defect. Transsphenoidal resection of pituitary adenoma was the treatment of choice. Histopathology assessment confirmed the diagnosis of gonadotroph-secreting adenoma, with positive staining for FSH. Within the 12-week postoperative period, FSH and testosterone levels normalized, and the patient experienced significant improvement in vision, along with the resolution of macroorchidism. While functional gonadotroph adenomas are rare, patients can present with a wide range of symptoms that are often unnoticeable due to their slow development. Careful evaluation can help guide multidisciplinary management to achieve full remission.
LEARNING POINTS: Endocrine evaluation is indicated in all cases of pituitary incidentalomas to determine functional status. Clinically functioning gonadotroph adenomas, while rare, pose a diagnostic challenge and require careful clinical evaluation. Transsphenoidal surgery is the mainstay of treatment of functioning gonadotroph adenomas, with the involvement of a multidisciplinary team to achieve desirable outcomes.
Evaluation of the Oncomine Comprehensive Assay v3 panel for the detection of 1p/19q codeletion in oligodendroglial tumours

Ali RH, Alateeqi M, Jama H, Alrumaidhi N, Alqallaf A, Mohammed EM, et al.

J Clin Pathol, 2023 Feb;76(2):103-110.
PMID: 34489310 DOI: 10.1136/jclinpath-2021-207876

AIMS: Accurate assessment of 1p/19q codeletion status in diffuse gliomas is of paramount importance for diagnostic, prognostic and predictive purposes. While targeted next generation sequencing (NGS) has been widely implemented for glioma molecular profiling, its role in detecting structural chromosomal variants is less well established, requiring supplementary informatic tools for robust detection. Herein, we evaluated a commercially available amplicon-based targeted NGS panel (Oncomine Comprehensive Assay v3) for the detection of 1p/19q losses in glioma tissues using an Ion Torrent platform and the standard built-in NGS data analysis pipeline solely.
METHODS: Using as little as 20 ng of DNA from formalin-fixed paraffin-embedded tissues, we analysed 25 previously characterised gliomas for multi-locus copy number losses (CNLs) on 1p and 19q, including 11 oligodendrogliomas (ODG) and 14 non-oligodendroglial (non-ODG) controls. Fluorescence in-situ hybridisation (FISH) was used as a reference standard.
RESULTS: The software confidently detected combined contiguous 1p/19q CNLs in 11/11 ODGs (100% sensitivity), using a copy number cut-off of ≤1.5 and a minimum of 10 amplicons covering the regions. Only partial non-specific losses were identified in non-ODGs (100% specificity). Copy number averages of ODG and non-ODG groups were significantly different (p<0.001). NGS was concordant with FISH and was superior to it in distinguishing partial from contiguous losses indicative of whole-arm chromosomal deletion.
CONCLUSIONS: This commercial NGS panel, along with the standard Ion Torrent algorithm, accurately detected 1p/19q losses in ODG samples, obviating the need for specialised custom-made informatic analyses. This can easily be incorporated into routine glioma workflow as an alternative to FISH.
Kikuchi-Fujimoto disease, simultaneously diagnosed with systemic lupus erythematosus in an Arabic female: an agonizing combination

Gouda W, Alsaqabi F, Almurshed M, Mostafa AA, Albasri A, Negm A, et al.

J Int Med Res, 2024 May;52(5):3000605241248884.
PMID: 38713457 DOI: 10.1177/03000605241248884

Kikuchi-Fujimoto disease (KFD), also known as histiocytic necrotizing lymphadenitis, is a rare, benign condition affecting young Oriental-Asian females. It is characterized by fever and tender cervical lymphadenopathy with an unclear aetiology, and in most longitudinal reviews, KFD occurs before systemic lupus erythematosus (SLE). Herein, the case of a 28-year-old Kuwaiti female without any relevant past medical history, who was simultaneously diagnosed with KFD and SLE following an Ebstein-Barr virus infection, is reported. The patient was treated with oral prednisolone, hydroxychloroquine, cyclosporin, and belimumab and her response was clinically and biochemically favourable. Although KFD is prevalent in Asian populations, it may affect all races. Early diagnosis of KFD is difficult, particularly when simultaneously diagnosed with SLE, but crucial to preventing inappropriate therapy. Clinicians need to know about this rare disease, especially when patients present with fever and swollen lymph nodes, due to a risk of misdiagnosis with tuberculosis or lymphoma, as these are more often thought to be the cause of such symptoms.
Are the Radiological and Molecular Features of Pediatric Medulloblastomas Valuable Prognostic Indicators? A 10-year Retrospective Review in the Middle East

Alhaj AK, Burhamah T, Mohammad F, Almutawa M, Dashti F, Almurshed M, et al.

World Neurosurg, 2024 Apr 16.
PMID: 38636638 DOI: 10.1016/j.wneu.2024.04.057

BACKGROUND: Medulloblastomas are the most common malignant brain tumors in the pediatric population. Based on the idea that tumors with identical radio-genomic features should behave similarly, the four molecular subtypes are now widely accepted as a guide for the management and prognosis. The radiological features of medulloblastomas can predict the molecular subtype; thus, anticipating the subsequent disease progression. However, this has not been evaluated comprehensively.
PURPOSE: We aim to thoroughly study the association between the molecular subtypes and radiological features of medulloblastomas. Moreover, we aim to investigate the efficacy of this correlation with the use of progression-free survival (PFS) and five-year survival rates.
METHODS: A retrospective analysis was conducted for all histopathological confirmed medulloblastomas in pediatric patients (<16 years old) that were operated on in Kuwait over the past ten years (n=44). The radiological, histological, and molecular characteristics were justifiably evaluated and analyzed in our sample.
RESULTS: The overall progression-free survival after one year was noticed among 27 cases (≈44%) and the non-specific five-year survival was seen in 31 cases (≈70%) after a five-year follow-up. SHH and WNT had the best outcomes, while group 3 showed the worst outcomes.
CONCLUSION: Our findings did not support the association between most of the typical MRI characteristics and survival rate. We further established that SHH and WNT biological types have a better prognosis. There was no association observed between the radiographic features, specifically the location, and the molecular subtype.
Fulltext Clinicopathological analysis of BRAF and non-BRAF MAPK pathway-altered gliomas in paediatric and adult patients: a single-institution study of 40 patients

Ali RH, Almanabri M, Ali NY, Alsaber AR, Khalifa NM, Hussein R, et al.

J Clin Pathol, 2024 Jan 09.
PMID: 38195220 DOI: 10.1136/jcp-2023-209318

AIMS: Mitogen-activated protein kinase (MAPK) pathway alteration is a major oncogenic driver in paediatric low-grade gliomas (LGG) and some adult gliomas, encompassing BRAF (most common) and non-BRAF alterations. The aim was to determine the frequency, molecular spectrum and clinicopathological features of MAPK-altered gliomas in paediatric and adult patients at our neuropathology site in Kuwait.
METHODS: We retrospectively searched the data of molecularly sequenced gliomas between 2018 and 2023 for MAPK alterations, revised the pathology in view of the 2021 WHO classification and evaluated the clinicopathological data for possible correlations.
RESULTS: Of 272 gliomas, 40 (15%) harboured a MAPK pathway alteration in 19 paediatric (median 9.6 years; 1.2-17.6) and 21 adult patients (median 37 years; 18.9-89.2), comprising 42% and 9% of paediatric and adult cases, respectively. Pilocytic astrocytoma and glioblastoma were the most frequent diagnoses in children (47%) and adults (43%), respectively. BRAF V600E (n=17, 43%) showed a wide distribution across age groups, locations and pathological diagnoses while KIAA1549::BRAF fusion (n=8, 20%) was spatially and histologically restricted to cerebellar paediatric LGGs. Non-V600E variants and BRAF amplifications accompanied other molecular aberrations in high-grade tumours. Non-BRAF MAPK alterations (n=8) included mutations and gene fusions involving FGFR1, NTRK2, NF1, ROS1 and MYB. Fusions included KANK1::NTRK2, GOPC::ROS1 (both infant hemispheric gliomas), FGFR1::TACC1 (diffuse LGG), MYB::QKI (angiocentric glioma) and BCR::NTRK2 (glioblastoma). Paradoxical H3 K27M/MAPK co-mutations were observed in two LGGs.
CONCLUSION: The study provided insights into MAPK-altered gliomas in Kuwait highlighting the differences among paediatric and adult patients and providing a framework for planning therapeutic polices.