scholarly journals PKA drives paracrine crisis and WNT4-dependent testis tumor in Carney complex

2020 ◽  
Author(s):  
C. Djari ◽  
I. Sahut-Barnola ◽  
A. Septier ◽  
I. Plotton ◽  
N. Montanier ◽  
...  
Keyword(s):  
Mutant Mouse ◽  
Large Cell ◽  
Carney Complex ◽  
Testis Tumor ◽  
Integrative Analyses ◽  
Signal Production ◽  
Male Patients ◽  
Diagnostic Criterion ◽  
Inactivating Mutations ◽  
Sertoli Cell Tumors

ABSTRACTLarge Cell Calcifying Sertoli Cell Tumors (LCCSCTs) are among the most frequent lesions occurring in Carney complex (CNC) male patients. Although they constitute a key diagnostic criterion for this rare multiple neoplasia syndrome resulting from inactivating mutations of the tumor suppressor PRKAR1A leading to unrepressed PKA activity, the LCCSCT pathogenesis and origin remain elusive. Mouse models targeting Prkar1a inactivation in all somatic populations or separately in each cell type were generated to decipher the molecular and paracrine networks involved in the CNC testis lesion induction. We demonstrate that Prkar1a mutation is required in both stromal and Sertoli cells for the occurrence of LCCSCT. Integrative analyses comparing transcriptomic, immunohistological data and phenotype of mutant mouse combinations led to understand the human LCCSCT pathogenesis and demonstrated unprecedented PKA-induced paracrine molecular circuits in which the aberrant WNT4 signal production is a limiting step in shaping intratubular lesions and tumor expansion both in mouse model and human CNC testes.

KCTD20, a new gene in cortisol-secreting adrenocortical tumors related to inactivating mutations of the Carney Complex gene (PRKAR1A)

2019 ◽  
Author(s):  
Mathilde Briere ◽  
Bruno Ragazzon ◽  
Bo Yu ◽  
Abdelghani Bouchekioua ◽  
Jerome Bertherat ◽  
...  
Keyword(s):  
Carney Complex ◽  
Adrenocortical Tumors ◽  
New Gene ◽  
Inactivating Mutations

scholarly journals A Case Report of Incomplete Carney Complex With SMARCA4-Deficient Thoracic Sarcoma: Implications for the SLC7Aaa and ARID1A Expression

2021 ◽  
Author(s):  
yusuke kito ◽  
Keisuke Kawashima ◽  
Chiemi Saigo ◽  
Masayoshi Hasegawa ◽  
Shusuke Nomura ◽  
...  
Keyword(s):  
Tumor Cells ◽  
Epithelioid Sarcoma ◽  
Immunohistochemical Analysis ◽  
Large Cell Carcinoma ◽  
Large Cell ◽  
Large Mass ◽  
Soft Tissue Tumors ◽  
Genetic Alterations ◽  
Undifferentiated Carcinoma ◽  
Carney Complex

Abstract Background: SWI/SNF-related, matrix-associated, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member (SMARCA4)-deficient thoracic sarcoma (SMARCA4-DTS) is a rare disease that has recently been described as an entity. It is characterized by an aggressive clinical course and specific genetic alterations. As an immunohistological feature, the tumors are deficient in SMARCA4 and SMARCA2 and express the sex-determining region Y-box 2 (SOX2). In contrast, Carney’s triad is a syndrome that combines three rare soft tissue tumors: gastric leiomyosarcoma, pulmonary chondroma, and extra-adrenal paraganglioma, of which at least two are required for diagnosis. Both diseases are valuable case, and there have been no previous reports of their coexistence.Case presentation: A 43-year-old man visited our hospital because of respiratory distress. Computed tomography revealed a large mass measuring 55 mm in the upper lobe of his right lung and front mediastinum, with metastases in the surrounding lymph nodes. Needle biopsy was performed for diagnosis, and histological examination of the samples revealed monotonous epithelioid-like cells with loose binding and sheet-form proliferation. The tumor cells had distinct nuclei, with rhabdoid-kile cells in some locations. Immunohistochemical analysis revealed that the tumor cells were positive for SOX2, CD34, and p53 and negative for SMARCA4 and SMARCA2. The patient died 6 months after admission without any treatment. Autopsy revealed ganglioneuroma and enchondroma, suggesting an incomplete Carney complex.Conclusion: SMARCA4-DTS is a rare and recently established disease. While it is difficult to siagnose, it is necessary to distinguish undifferentiated carcinoma, large cell carcinoma, Ewing sarcoma, epithelioid sarcoma, etc. when diagnosing tumors involving the mediastinum, In addition, case with both an incomplete Carney complex and SMARCA4-DTS are very rare. We discuss and report about SMARCA4-DTS by examining the expression of AT-rich interactive domain-containing protein 1A and solute carrier family 7 member 11.

Retrospective analysis and chemotherapy results in extra-nodal NHL patients in a large super-speciality hospital in North India

2009 ◽  
Vol 27 (15_suppl) ◽  
pp. e19566-e19566
Author(s):  
S. Aggarwal ◽  
P. Prakhar ◽  
S. Kohli ◽  
A. Negi ◽  
M. Jauhari ◽  
...  
Keyword(s):  
T Cell ◽  
B Cell ◽  
Soft Tissues ◽  
Large Cell ◽  
North India ◽  
High Dose ◽  
New Delhi ◽  
Cell Type ◽  
Haemolytic Disease ◽  
Male Patients

e19566 Background: We retrospectively analysed records of the Patients visiting the pathology department of Sir Ganga Ram Hospital, New Delhi a super-speciality hospital, between February 2007- February 2008. Out of a total of 16,500 cases, NHL was reported in 154 (0.93%)cases. The median age was 52 yrs and the no. of male patients were 104 and female were 50 making M:F = 2:1. The type of NHL was B-Cell type (CD-20+ve) in 132(85%) and T-Cell type (CD 3+ve) in 22 (15%) cases. Out of 154 patients, 77 were nodal and 77 were extra nodal. Additional features - HIV positivity in 2 patients, autoimmune haemolytic disease in 1 patient and thalessemia major in 1 patient. In extra-nodal group of NHL patients the no. Of male and female patients were 55 & 22 respectively (M:F=2.5:1). Out of 77 extra-nodal cases, 31(20%) were GIT NHL (Stomach -16, Colon-8, Ileum-4, and Duodenum-3) and out of the rest 46 extra-nodal cases the site of origin was - head & neck-14, skin n soft tissues -8, primary CNS-6, testicular-4, para-spinal- 3, breast mass-3, perinephric-2, bones-2 and 1 each in cervix, lung mass, liver and cervical plexus. Methods: A detailed analysis of 31 GIT NHL cases was carried out. 28 out of 31 were B-Cell type and 3 were T-Cell type. 26 out of 31 were diffuse large cell variety, 2 were mixed small & large cell variety and 1 MALT variety. In 2 patients the type of lymphoma could not be ascertained. Bone marrow infiltration was present in 2 out of 31 cases of GIT Lymphoma. Surgery was carried out in 15 of 31 GIT NHL cases and these were arising from Colon, Ileum and Duodenum. No surgery was performed in patients with stomach lymphoma. Results: Of all the extra-nodal cases chemotherapy was given to 39 patients - R-CHOP = 20 patients, CHOP = 13 patients, high dose MTX in primary CNS NHL = 6 patients. CR was achieved 16 out of 20 R-CHOP patients (80%), 8 out of 13 CHOP Patients (61 %) and 4 out of 6 high dose MTX patients (66%). No significant financial relationships to disclose.

scholarly journals Large-cell calcifying Sertoli cell tumors of the testes in pediatrics

2012 ◽  
Vol 24 (4) ◽  
pp. 518-522 ◽  
Author(s):  
Evgenia Gourgari ◽  
Emmanouil Saloustros ◽  
Constantine A. Stratakis
Keyword(s):  
Sertoli Cell ◽  
Large Cell ◽  
Sertoli Cell Tumors

scholarly journals Απεικονιστικά ευρήματα στο μαστό ασθενών με το σύμπλεγμα carney

2002 ◽  
Author(s):  
Νικόλαος Κουρκουτσάκης
Keyword(s):  
Autosomal Dominant ◽  
Genetic Locus ◽  
Fibrous Tissue ◽  
Follicular Carcinoma ◽  
Large Cell ◽  
Carney Complex ◽  
Chromosome 17 ◽  
Benign Tumors ◽  
Endocrine Tumors ◽  
Chromosome 2

Carney complex is a familial multiple -neoplasia and lentiginosis syndrome first reported on in 1985 by Carney and colleagues. Carney complex is characterized by spotty pigmentation of the skin and mucosae (lentigines and blue nevi); myxomatous tumors of the skin, heart, breast, and other organs; and a variety of endocrine tumors which include primary pigmented nodular adrenocortical disease, growth hormone- secreting pituitary adenoma, testicular neoplasms (large-cell calcifying Sertoli and Leydig cell tumors), psammomatous melanotic schwannomas, and thyroid follicular tumors (adenoma and papillary and follicular carcinoma). The syndrome is autosomal dominant, and the genetic locus for it has been mapped to the short arm of chromosome 2 (2pl6) and to the short arm of chromosome 17 (17q 22-24). The disease is familial in approximately half of the patients; in the remaining patients, the syndrome appears sporadically. Breast masses in Carney Complex may represent myxoid fibroadenomas or ductal adenomas. The former have been found in at least one-fifth of the patients with reported sporadic and familial cases of the complex, with the latter have been described in five patients, which include two in the same family. The myxomatous lesion is characterized by the accumulation of myxoid material in the stroma that involves single or small groups of nodules. Large aggregates of these lesions result in the formation of a myxoid fibroadenoma. Ductal adenomas are solid tumors with tubular features and are composed of distinct epithelial and myoepithelial cells with a modest amount of fibrous tissue. Myxoid fibroadenomas and ductal adenomas are benign tumors that can manifest at a young age and are autosomal dominant. We suggest that MR imaging be performed when a solid, benign appearing mass in a patient with Carney Complex is found on a screening mammogram. If additional lesions with similar features exist and no other signs of malignancy are present, the patient can be followed up clinically. Because ductal adenomas are unusual benign tumors, incidental discovery of such a lesion should prompt one to exclude Carney complex.

scholarly journals Protein kinase A drives paracrine crisis and WNT4-dependent testis tumor in Carney complex

2021 ◽  
Vol 131 (23) ◽  
Author(s):  
Cyril Djari ◽  
Isabelle Sahut-Barnola ◽  
Amandine Septier ◽  
Ingrid Plotton ◽  
Nathanaëlle Montanier ◽  
...  
Keyword(s):  
Protein Kinase ◽  
Protein Kinase A ◽  
Carney Complex ◽  
Testis Tumor ◽  
Kinase A

Features of Takotsubo Syndrome in Male Patients

2020 ◽  
Vol 75 (5) ◽  
pp. 508-513
Author(s):  
Tat’yana E. Karaoglanova ◽  
Aleksey V. Manzyuk
Keyword(s):  
Heart Diseases ◽  
Takotsubo Syndrome ◽  
Mixed Group ◽  
Distinctive Features ◽  
Coronary Syndrome ◽  
Group A ◽  
Gender Characteristics ◽  
Male Patients ◽  
Number Of Publications ◽  
Diagnostic Criterion

Takotsubo syndrome has particular significance among heart diseases, as with the increase in the number of publications, there is more and more evidence that this syndrome can cause serious complications and even death of patients. Similarity with acute coronary syndrome is even more important reason for interest in Takotsubo syndrome, coupled with the lack of a clear diagnostic criterion to distinguish these pathologies. The lack of understanding of the pathogenesis of Takotsubo syndrome is one of the obstacles to the formation of such a diagnostic criterion. Despite a large number of publications on the causes and pathogenesis of Takotsubo syndrome, course of the disease has not been studied in men, since this pathology is much more often observed in women. Identifying the gender characteristics of this disease and their causes can be an important step towards explaining the pathogenesis of Takotsubo syndrome. In this review, a sample of 45 clinical cases of Takotsubo syndrome in men was compared with a mixed group from a clinical study. Takotsubo syndrome in men has a number of distinctive features: the greater importance of physical stress in the structure of the causes, in contrast to the predominance of emotional stress in the mixed group, a higher proportion of the basal form of the disease, as well as a significant decrease in the ejection fraction of the left ventricle and the frequent occurrence of cardiogenic shock manifestations of a more severe course of this disease.

Platelet function and indices in Lithuanian men with dyslipidemia: associations with inflammatory biomarkers

2015 ◽  
Vol 21 (4) ◽  
pp. 182-194
Author(s):  
Valdas Banys ◽  
Viktorija Andrejevaitė ◽  
Virginijus Šapoka ◽  
Zita Aušrelė Kučinskienė
Keyword(s):  
High Risk ◽  
Platelet Function ◽  
Large Cell ◽  
Inflammatory Factors ◽  
Inclusion Criteria ◽  
Platelet Volume ◽  
Thrombin Receptors ◽  
Male Patients ◽  
Lipids Profile ◽  
Study Inclusion

Introduction. Platelet function, platelet volume indices, traditional markers of lipid metabolism, inflammatory markers and a novel biomarker, cyclophilin A (CyPA), are related as far as they have implications in pathogenesis of atherosclerosis. The purpose of this study was to evaluate interrelations among these factors, correlation between platelet function and inflammatory factors, also a function of CyPA. Materials and methods. 160 male patients with high risk of atherosclerosis and metabolic syndrome were included in the study. Inclusion criteria were as follows: disturbances in lipids profile, increased weight, smoking, acute or chronic stress, no previous or current acute cardiovascular disease (CVD), high risk and presence of stress confirmed by physician. CRP, vWF, fibrinogen, CyPA levels were measured. Platelet function was assessed by aggregation and flow cytometry. Results. Increasing number of risk factors gave statistically significant elevation in fibrinogen, thrombin receptors activating peptide, CRP, glucose, mean platelet volume (MPV), platelet large cell ratio, lipids and their ratios with extremely significant linearity. MPV correlated positively with CD42a (r = 0.605; p 

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