scholarly journals CHEK2 Mutation in Patient with Multiple Endocrine Glands Tumors. Case Report

2020 ◽  
Vol 17 (12) ◽  
pp. 4397
Author(s):  
Anna Szeliga ◽  
Aleksandra Pralat ◽  
Wiktoria Witczak ◽  
Agnieszka Podfigurna ◽  
Cezary Wojtyla ◽  
...  
Keyword(s):  
Broad Ligament ◽  
Gene Mutations ◽  
Pathogenic Mutation ◽  
Suppressor Gene ◽  
Uncontrolled Hypertension ◽  
Endocrine Glands ◽  
Histopathology Result ◽  
The Right ◽  
Acth Secreting ◽  
Adnexal Tumors

Background: Many studies show the occurrence of several multiple endocrine neoplasia syndromes caused by different mutations, for example, in MEN1 and RET genes. Nevertheless, there are less common mutations causing multiple endocrine glands tumors. Examples of such mutations are CHEK2 gene mutations, causing breast, kidney, gastric, colorectal, prostate, lung, ovarian, and thyroid cancers. Case description: In 2005, a 30-year-old woman was admitted to the hospital due to uncontrolled hypertension and obesity. Performed tests have shown ACTH (adrenocorticotropic hormone)—independent micronodular adrenal hyperplasia (AIMAH) as a cause. In 2010, the further diagnostic analysis revealed Cushing’s disease caused by ACTH-secreting pituitary microadenoma. Additionally, in 2011, the patient underwent the strumectomy of multinodular struma. Papillary thyroid carcinoma was found in the excised tissue. In 2018, transvaginal ultrasonography revealed a tumor of the right ovary. After a performed hysterectomy with bilateral salpingo-oophorectomy, the histopathology result has shown female adnexal tumors of probable Wolffian origin (FATWO) located in the broad ligament of the uterus. Due to the history of multiglandular diseases, the patient was referred to genetic testing. We found a positive pathogenic mutation in CHEK2-suppressor gene involved in DNA repair, cell cycle arrest, and apoptosis in response to DNA damage. Conclusion: CHEK2 variants may predispose to a range of endocrine glands tumors, including those identified in our patient. Multiple endocrine glands tumors, as in the presented patient, are a serious problem of public health, due to numerous hospitalizations and necessary repeated surgical treatments. Moreover, the association between CHEK2 and ovarian cancer can be a serious problem with reproductive health.

scholarly journals Recurrence hernia in the broad ligament of the uterus: a case report

2020 ◽  
Vol 6 (1) ◽  
Author(s):  
Yoshifumi Hashimoto ◽  
Tatsuo Kanda ◽  
Tadasu Chida ◽  
Kazuyoshi Suda
Keyword(s):  
Small Bowel ◽  
Rare Disease ◽  
Broad Ligament ◽  
Significant Risk ◽  
Disease Recurrence ◽  
The Right ◽  
Enhanced Computed Tomography ◽  
Bowel Segments ◽  
Hernia Orifice ◽  
Bowel Herniation

Abstract Background Bowel herniation through a defect in the broad ligament of the uterus is a rare disease and few cases of recurrence have been reported. We report herein a recurrence case of a patient with broad ligament hernia (BLH), along with a review of the literature. Case presentation A 53-year-old woman complaining of abdominal pain was transported to our hospital. She had a history of laparotomy for small-bowel obstruction associated with hernia in the broad ligament of the uterus 10 years ago at a local hospital. Abdominal pelvic contrast-enhanced computed tomography revealed that the mesentery of the dilated bowels converged at a thick band in the pelvis, suggesting closed loop obstruction of the small bowel. The patient underwent urgent laparotomy and was diagnosed with bowel herniation through an opening in the broad ligament of the uterus on the right side, which was ipsilateral with the previous surgery. The hernia orifice was widened by incision and incarcerated bowel segments were released and preserved because ischemia was reversible. The membranous defect of BLH was closed by suture with braded silk strings. Conclusions Although BLH is a rare disease, patients face a significant risk of disease recurrence. Nonabsorbable suture may be advisable for closure of the hernia orifice in BLH.

The transcription factor E2F-1 mediates the autoregulation of RB gene expression

1994 ◽  
Vol 14 (1) ◽  
pp. 299-309
Author(s):  
B Shan ◽  
C Y Chang ◽  
D Jones ◽  
W H Lee
Keyword(s):  
Promoter Region ◽  
Promoter Activity ◽  
Cell Cycle Progression ◽  
Gene Mutations ◽  
Suppressor Gene ◽  
Recognition Sequence ◽  
Cycle Progression ◽  
Rb Gene ◽  
Transcription Factor E2f ◽  
Stimulation Of

The retinoblastoma (RB) gene is the prototype tumor suppressor gene. Mutations in this gene are often associated with the occurrence of various tumors. Several mutations have been found in the promoter region of the gene, suggesting that inappropriate transcriptional regulation of the RB gene contributes to tumorigenesis. Sequence analysis of the RB promoter has revealed a potential E2F recognition site within a region critical for RB gene transcription. By using the cloned E2F-1 gene, here we report that (i) RB expression is negatively regulated by its own gene product, (ii) E2F-1 binds specifically to an E2F recognition sequence in the RB promoter and transactivates the RB promoter, (iii) overexpression of RB suppresses E2F-1-mediated stimulation of RB promoter activity, and (iv) the expression of the RB gene is paralleled by the expression of the E2F-1 gene during cell cycle progression. These results demonstrate that expression of RB is negatively autoregulated through E2F-1.

P53 tumor suppressor gene mutations in hepatocellular carcinoma patients in India

Cancer ◽  
2000 ◽  
Vol 88 (7) ◽  
pp. 1565-1573 ◽  
Author(s):  
Sanjay Katiyar ◽  
Bipin C. Dash ◽  
Varsha Thakur ◽  
Raj C. Guptan ◽  
Shiv K. Sarin ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Tumor Suppressor ◽  
Tumor Suppressor Gene ◽  
Gene Mutations ◽  
Suppressor Gene ◽  
P53 Tumor Suppressor ◽  
P53 Tumor Suppressor Gene

scholarly journals Reversible Catecholamine Induced Cardiomyopathy

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A1005-A1005
Author(s):  
Kathrin Sandra Tofil ◽  
Malek Mushref
Keyword(s):  
Neuroendocrine Tumor ◽  
Metastatic Disease ◽  
Left Ventricular ◽  
Uncontrolled Hypertension ◽  
Endocrine Tumors ◽  
Retroperitoneal Mass ◽  
Distal Pulse ◽  
Hepatic Lesions ◽  
Poor Outcomes ◽  
The Right

Abstract Background: Pheochromocytomas and paragangliomas (PPGL) are rare neuro-endocrine tumors associated with a myriad of poor outcomes as a result of long-term exposure to catecholamines. Although paragangliomas are less commonly associated with increased catecholamine production than adrenal pheochromocytomas, there have been a few reports of catecholamine-induced cardiomyopathy in patients diagnosed with PPGL. We report a case of a PPGL associated with hypercoagulability and cardiomyopathy. Clinical Case: 42-year-old man with uncontrolled hypertension presented to the emergency department with abdominal pain. On CT imaging, he was found to have hepatic lesions, aortocaval lymph node concerning for metastatic disease, left renal infarct, and a left ventricular thrombus. Soon after his admission, he developed acute ataxia, gaze palsies and left hemiparalysis. CTA of the head showed a basilar artery thrombus [FJ1] which was treated with emergent thrombectomy. In addition patient had absent distal pulse of the right foot[FJ2], and found to have thrombus of the popliteal artery, which was treated with thrombectomy. Further workup with abdominal MRI showed retroperitoneal mass[FJ3] and multiple hepatic lesions concerning for metastatic extra-adrenal neuroendocrine tumor. Plasma normetanephrine was 4.5 nmol/L (ULN 0.89), plasma metanephrine 0.3 nmol/L (ULN 0.49) Chromogranin A was 387 ng/ml (ULN 160). Ga-68 DOTATE scan was consistent with an extra adrenal paraganglioma with less prominent radiotracer activity in hepatic lesion concerning for dedifferentiated metastatic disease. In addition, echocardiogram showed reduced LV ejection fraction of 24% with global hypokinesis, and confirmed the LV thrombus. Cardiac MRI showed infiltrative nonischemic cardiomyopathy and mild dilation of left ventricle, as well as patchy delayed enhancement in the basal and inferoseptal walls suggestive of myocarditis. Treatment included rivaroxaban[FJ4], lisinopril, doxazosin, furosemide, and carvedilol. Several months after discharge, his EF improved to 48%. Hepatic lesions concerning for dediffertiated tumor vs unrelated malignancy was biopsied[FJ5] and consistent with neuroendocrine tumor. Future plan for his PPGL include revaluation for resection of retroperitoneal mass or DOTA Lutathera therapy. Conclusions: This case highlights a young man who was incidentally found to have metastatic paraganglioma with catecholamine-induced cardiomyopathy. The patient was asymptomatic until he developed significant heart failure. Cardiomyopathy in this setting is thought to be secondary to uncontrolled hypertension, as well as sympathetic overdrive from overstimulation of norepinephrine. We present the case to highlight the management challenges in a patient with PPGL with significant cardiovascular compromise and limited therapeutic options.

Paroxysmal kinesigenic dyskinesia–like phenotype in multiple sclerosis

2017 ◽  
Vol 23 (13) ◽  
pp. 1795-1797 ◽  
Author(s):  
Roxana Pop ◽  
Stefan Kipfer
Keyword(s):  
Multiple Sclerosis ◽  
Gene Mutations ◽  
Brain Magnetic Resonance Imaging ◽  
Acute Onset ◽  
Intravenous Steroid ◽  
Paroxysmal Kinesigenic Dyskinesia ◽  
Hyperkinetic Movement Disorder ◽  
Magnetic Resonance Imaging Mri ◽  
The Right ◽  
Rapid Regression

In April 2015, a 20-year-old woman with multiple sclerosis (MS) presented with acute onset of repetitive abnormal postures and choreatic movements of the right arm, precipitated by voluntary movements (online video 1 and 2). Brain magnetic resonance imaging (MRI) showed a new active MS lesion involving the basal ganglia on the left side (Figure 1(a)). Intravenous steroid treatment resulted in rapid regression of this paroxysmal kinesigenic dyskinesia (PKD)-like hyperkinetic movement disorder. The patient became asymptomatic within 3 months. PKD is characterized by recurrent uni- or bilateral choreoathetosis and usually represents an autosomal dominant inherited disorder caused by PRRT2 gene mutations. As in the present case, a PKD-like phenotype may be associated with MS relapses in presumably genetic negative cases.

scholarly journals P644 A not so innocent athlete"s heart

2020 ◽  
Vol 21 (Supplement_1) ◽  
Author(s):  
C C Oliveira ◽  
C Vieira ◽  
I Campos ◽  
C Rodrigues ◽  
P Medeiros ◽  
...  
Keyword(s):  
Sinus Rhythm ◽  
Task Force ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Late Enhancement ◽  
Pathogenic Mutation ◽  
End Diastolic Volume ◽  
Wave Inversion ◽  
Wide Complex Tachycardia ◽  
The Right

Abstract We report the case of a 17 years old athlete who resorted to the emergency service for palpitations and dizziness during exercising. He mentioned two episodes of syncope associated with exercise in the last 6 months. He was tachycardic (200 bpm) and hypotensive (85/56 mmHg). The electrocardiogram showed regular wide complex tachycardia with left bundle branch block morphology with superior axis restored to sinus rhythm after electrical cardioversion. In sinus rhythm, it showed T-wave inversion in V1-V5. Patient was admitted for study. Transthoracic echocardiography demonstrated mild enlargement and dysfunction of the right ventricle (RV) with global hypocontractility (FAC of 29%). The cardiac magnetic resonance (CMR revealed a RV end-diastolic volume indexed to surface body area of 180 mL/m2, global hypocinesia and RV dyssynchrony, subepicardial late enhancement in the distal septum and in the middle segment of the infero-septal wall. The patient underwent genetic study which showed a mutation in the gene that encodes the desmocolin-2 protein (DSC-2) involved in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy (ARVC). According to the 2010 modified Task Force criteria for this diagnosis, the patient presented 4 major criteria for ARVC (characteristic ventricular tachycardia, repolarization and morphofunctional changes and the presence of pathogenic mutation) and the diagnosis was made. Thus, given the clinical presentation, it was implanted a subcutaneous cardioverter and patient is currently in follow-up at the Cardiology service. ARVC is present in 1 to 1000-5000 people and is responsible for 20% of all sudden cardiac deaths, especially in athletes. Diagnosis is based on structural, functional, electrophysiological and genetic criteria reflecting underlying histological changes. This case shows and reviews the essential characteristics to the disease recognition and, therefore, to the prevention of its most feared complication: sudden cardiac death.

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