scholarly journals Comprehensive review of molecular mechanisms and clinical features of invasive lobular cancer

2021 ◽  
Author(s):  
Nikhil Pramod ◽  
Akanksha Nigam ◽  
Mustafa Basree ◽  
Resham Mawalkar ◽  
Saba Mehra ◽  
...  
Keyword(s):  
Clinical Features ◽  
Molecular Mechanisms ◽  
Comprehensive Review ◽  
Invasive Lobular Cancer ◽  
Lobular Cancer

CACNA1A Mutation Linking Hemiplegic Migraine and Alternating Hemiplegia of Childhood

Cephalalgia ◽  
2008 ◽  
Vol 28 (8) ◽  
pp. 887-891 ◽  
Author(s):  
B de Vries ◽  
AH Stam ◽  
F Beker ◽  
AMJM van den Maagdenberg ◽  
KRJ Vanmolkot ◽  
...  
Keyword(s):  
Clinical Features ◽  
Molecular Mechanisms ◽  
De Novo ◽  
Monozygotic Twin ◽  
Familial Hemiplegic Migraine ◽  
Hemiplegic Migraine ◽  
Mutation Scanning ◽  
Alternating Hemiplegia Of Childhood ◽  
Neurological Phenotype ◽  
Cacna1a Mutation

Familial hemiplegic migraine (FHM) and alternating hemiplegia of childhood (AHC) are severe neurological disorders that share clinical features. Therefore, FHM genes are candidates for AHC. We performed mutation analysis in the CACNA1A gene in a monozygotic twin pair with clinical features overlapping with both AHC and FHM and identified a novel de novo CACNA1A mutation. We provide the first evidence that a CACNA1A mutation can cause atypical AHC, indicating an overlap of molecular mechanisms causing AHC and FHM. These results also suggest that CACNA1A mutation scanning is indicated in patients with a severe neurological phenotype that includes paroxysmal (alternating) hemiplegia.

Pleomorphic Invasive Lobular Cancer of the Breast Presenting with Orbital Metastasis: A Case Report

2021 ◽  
Vol 17 ◽  
Author(s):  
Ebru Yılmaz ◽  
Nilgün Güldoğan ◽  
Aydan Arslan ◽  
Ceyda Civan
Keyword(s):  
Breast Cancer ◽  
Case Report ◽  
Cancer Metastasis ◽  
Left Breast ◽  
Breast Cancer Metastasis ◽  
Mri Findings ◽  
Blurred Vision ◽  
Orbital Metastasis ◽  
Invasive Lobular Cancer ◽  
Lobular Cancer

Background: Orbital metastasis of breast cancer is an unusual condition, especially in the absence of a previous diagnosis of primary breast cancer. The main MRI findings in patients with orbital metastasis are retroorbital soft tissue with thickening of extraocular muscles. Paradoxical enophtalmos secondary to fibrosis can be seen. Case Report: In this case report we present a 75-year-old female patient with left eye pain and blurred vision and retraction. Although there was no evidence of malignancy in the biopsy of the orbita; since the patient's complaints continued despite idiopathic pseudotumor treatment; mammography was recommended to rule out the possibility of breast cancer metastasis. Her mammography revealed a suspicious lesion in the left breast and proved to be pleomorphic invasive lobular cancer. Conclusion: Breast cancer metastasis should be kept in mind in women with pseudotumor -like involvement of the orbita.

scholarly journals Comprehensive Review of Molecular Mechanisms during Cholestatic Liver Injury and Cholangiocarcinoma

2018 ◽  
Vol 07 (03) ◽  
Author(s):  
Shohaib Virani ◽  
Austin Akers ◽  
Kristen Stephenson ◽  
Steven Smith ◽  
Lindsey Kennedy ◽  
...  
Keyword(s):  
Liver Injury ◽  
Molecular Mechanisms ◽  
Comprehensive Review ◽  
Cholestatic Liver Injury

scholarly journals Systemic scleroderma and lupus panniculitis with atypical clinical features: A case report and comprehensive review

2018 ◽  
Vol 4 (8) ◽  
pp. 789-793 ◽  
Author(s):  
Aaron R. Mangold ◽  
Collin M. Costello ◽  
Helen J.L. Cumsky ◽  
David J. DiCaudo ◽  
W. Leroy Griffing ◽  
...  
Keyword(s):  
Case Report ◽  
Clinical Features ◽  
Systemic Scleroderma ◽  
Comprehensive Review ◽  
Lupus Panniculitis

scholarly journals ERBB2 mutation is associated with a worse prognosis in patients with CDH1 altered invasive lobular cancer of the breast

Oncotarget ◽  
2016 ◽  
Vol 7 (49) ◽  
pp. 80655-80663 ◽  
Author(s):  
Zheng Ping ◽  
Gene P. Siegal ◽  
Shuko Harada ◽  
Isam-Eldin Eltoum ◽  
Mariam Youssef ◽  
...  
Keyword(s):  
Invasive Lobular Cancer ◽  
Lobular Cancer ◽  
Worse Prognosis

Inhibition of Heat Shock Factor 1 Enhances Repressive Molecular Mechanisms on the POMC Promoter

2019 ◽  
Vol 109 (4) ◽  
pp. 362-373
Author(s):  
Denis Ciato ◽  
Ran Li ◽  
Jose Luis Monteserin Garcia ◽  
Lilia Papst ◽  
Sarah D’Annunzio ◽  
...  
Keyword(s):  
Heat Shock ◽  
Clinical Features ◽  
Transcriptional Activation ◽  
Molecular Mechanisms ◽  
Primary Cultures ◽  
Heat Shock Protein 90 ◽  
Heat Shock Factor ◽  
Heat Shock Factor 1 ◽  
Promising Treatment ◽  
Acth Secreting

Background: Cushing’s disease (CD) is caused by adrenocorticotropic hormone (ACTH)-secreting pituitary tumours. They express high levels of heat shock protein 90 and heat shock factor 1 (HSF1) in comparison to the normal tissue counterpart, indicating activated cellular stress. Aims: Our objectives were: (1) to correlate HSF1 expression with clinical features and hormonal/radiological findings of CD, and (2) to investigate the effects of HSF1 inhibition as a target for CD treatment. Patients/Methods: We examined the expression of total and pSer326HSF1 (marker for its transcriptional activation) by Western blot on eight human CD tumours and compared to the HSF1 status of normal pituitary. We screened a cohort of 45 patients with CD for HSF1 by immunohistochemistry and correlated the HSF1 immunoreactivity score with the available clinical data. We evaluated the effects of HSF1 silencing with RNA interference and the HSF1 inhibitor KRIBB11 in AtT-20 cells and four primary cultures of human corticotroph tumours. Results: We show that HSF1 protein is highly expressed and transcriptionally active in CD tumours in comparison to normal pituitary. The immunoreactivity score for HSF1 did not correlate with the typical clinical features of the disease. HSF1 inhibition reduced proopiomelanocortin (Pomc) transcription in AtT-20 cells. The HSF1 inhibitor KRIBB11 suppressed ACTH synthesis from 75% of human CD tumours in primary cell culture. This inhibitory action on Pomc transcription was mediated by increased glucocorticoid receptor and suppressed Nurr77/Nurr1 and AP-1 transcriptional activities. Conclusions: These data show that HSF1 regulates POMC transcription. Pharmacological targeting of HSF1 may be a promising treatment option for the control of excess ACTH secretion in CD.

Invasive lobular cancer and re-do surgery – extent of the problem!

2008 ◽  
Vol 6 (7) ◽  
pp. 133
Author(s):  
H. Hoque ◽  
N. Ahmad ◽  
H. Sran ◽  
S. Patel ◽  
S. Gurjar ◽  
...  
Keyword(s):  
Invasive Lobular Cancer ◽  
Lobular Cancer

scholarly journals TheKAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms

2012 ◽  
Vol 33 (11) ◽  
pp. 1520-1525 ◽  
Author(s):  
Philippe M. Campeau ◽  
James T. Lu ◽  
Brian C. Dawson ◽  
Ivo F. A. C. Fokkema ◽  
Stephen P. Robertson ◽  
...  
Keyword(s):  
Clinical Features ◽  
Molecular Mechanisms
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