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 Carney Complex

2018 ◽  
Vol 127 (02/03) ◽  
pp. 156-164 ◽  
Author(s):  
Crystal Kamilaris ◽  
Fabio Faucz ◽  
Antonis Voutetakis ◽  
Constantine Stratakis
Keyword(s):  
Protein Kinase ◽  
Protein Kinase A ◽  
Multiple Endocrine Neoplasia ◽  
Autosomal Dominant ◽  
Cushing Syndrome ◽  
Carney Complex ◽  
Regulatory Subunit ◽  
Endocrine Tumors ◽  
Skin Abnormalities ◽  
Kinase A

AbstractCarney complex is a rare, autosomal dominant, multiple endocrine neoplasia and lentiginosis syndrome, caused in most patients by defects in the PRKAR1A gene, which encodes the regulatory subunit type 1α of protein kinase A. Inactivating defects of PRKAR1A lead to aberrant cyclic-AMP-protein kinase A signaling. Patients may develop multiple skin abnormalities and a variety of endocrine and non-endocrine tumors. Endocrine manifestations include primary pigmented nodular adrenocortical disease, that may cause Cushing syndrome, growth-hormone secreting pituitary adenoma or pituitary somatotropic hyperplasia which can result in acromegaly, as well as gonadal and thyroid tumors. Non-endocrine tumors associated with Carney complex include myxomas of the heart, breast, and other sites, psamommatous melanotic schwannomas, breast ductal adenomas, osteochondromyxomas, and a predisposition to a number of malignancies from adrenal to pancreatic and liver cancer.

scholarly journals PTEN Hamartoma Tumor Syndrome/Cowden Syndrome: Genomics, Oncogenesis, and Imaging Review for Associated Lesions and Malignancy

Cancers ◽  
2021 ◽  
Vol 13 (13) ◽  
pp. 3120
Author(s):  
David D. Dragoo ◽  
Ahmed Taher ◽  
Vincenzo K. Wong ◽  
Ahmed Elsaiey ◽  
Nikita Consul ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Malignant Tumors ◽  
Cowden Syndrome ◽  
Benign Tumors ◽  
Imaging Findings ◽  
Pten Hamartoma Tumor Syndrome ◽  
Associated Lesions ◽  
Tumor Recognition ◽  
Integral Role ◽  
Early Tumor

PTEN hamartoma tumor syndrome/Cowden syndrome (CS) is a rare autosomal dominant syndrome containing a germline PTEN mutation that leads to the development of multisystem hamartomas and oncogenesis. Benign tumors such as Lhermitte–Duclos disease and malignant tumors involving the breast, thyroid, kidneys, and uterus are seen in CS. Radiologists have an integral role in the comanagement of CS patients. We present the associated imaging findings and imaging screening recommendations. Knowledge of the types of cancers commonly seen in CS and their imaging findings can aid in early tumor recognition during cancer screening to help ensure near-normal life spans in CS patients.

TUBEROUS SCLEROSIS: PRESENTATION OF A CASE AND REVIEW OF THE LITERATURE

2021 ◽  
pp. 95-96
Author(s):  
Fabricio Andrés Lasso Andrade ◽  
Jorge Alejandro Cadena Arteaga ◽  
Ángela Maria Fajardo Arteaga ◽  
Viviana Lizeth Echeverry Morillo ◽  
David Alfredo Acevedo Vargas ◽  
...  
Keyword(s):  
Nervous System ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Causal Link ◽  
Benign Tumors ◽  
Review Of The Literature ◽  
Dominant Inheritance ◽  
Variable Expression

Tuberous Sclerosis Complex (TSC) also known as Bournneville disease. TSC is a multisystemic genetic disorder with autosomal dominant inheritance, of variable expression, which is mainly characterized by the presence of benign tumors or hamartomas in the nervous system and skin, but which may also be present in the heart, kidney, lung and other organs. The most frequent symptom is epilepsy, affecting 80-90% of patients with TSC which manifests itself in childhood between 1 to 3 years of age. We present a case of sporadic onset tuberous sclerosis with epilepsy that had a causal link with TSC after admission to the emergency room in a convulsive status.

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.

scholarly journals A Natural Mutation Involving both Pathogenicity and Perithecium Formation in the Fusarium graminearum Species Complex

2016 ◽  
Vol 6 (12) ◽  
pp. 3883-3892 ◽  
Author(s):  
Haruhisha Suga ◽  
Koji Kageyama ◽  
Masafumi Shimizu ◽  
Misturo Hyakumachi
Keyword(s):  
Mutant Strain ◽  
Fusarium Graminearum ◽  
Type Strain ◽  
Species Complex ◽  
Wild Type Strain ◽  
Genetic Locus ◽  
Chromosome 2 ◽  
Wild Type ◽  
Head Blight ◽  
Fusarium Graminearum Species Complex

Abstract Members of the Fusarium graminearum species complex (Fg complex or FGSC) are the primary pathogens causing Fusarium head blight in wheat and barley worldwide. A natural pathogenicity mutant (strain 0225022) was found in a sample of the Fg complex collected in Japan. The mutant strain did not induce symptoms in wheat spikes beyond the point of inoculation, and did not form perithecia. No segregation of phenotypic deficiencies occurred in the progenies of a cross between the mutant and a fully pathogenic wild-type strain, which suggested that a single genetic locus controlled both traits. The locus was mapped to chromosome 2 by using sequence-tagged markers; and a deletion of ∼3 kb was detected in the mapped region of the mutant strain. The wild-type strain contains the FGSG_02810 gene, encoding a putative glycosylphosphatidylinositol anchor protein, in this region. The contribution of FGSG_02810 to pathogenicity and perithecium formation was confirmed by complementation in the mutant strain using gene transfer, and by gene disruption in the wild-type strain.

A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17

1994 ◽  
Vol 3 (6) ◽  
pp. 915-918 ◽  
Author(s):  
Jacquie Greenberg ◽  
Rene Goliath ◽  
Peter Beighton ◽  
Rajkumar Ramesar
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Dominant ◽  
Chromosome 17 ◽  
Autosomal Dominant Retinitis Pigmentosa

scholarly journals Thyroid follicular adenomas may display features of follicular carcinoma and follicular variant of papillary carcinoma

2004 ◽  
Vol 151 (6) ◽  
pp. 779-786 ◽  
Author(s):  
VV Vasko ◽  
J Gaudart ◽  
C Allasia ◽  
V Savchenko ◽  
J Di Cristofaro ◽  
...  
Keyword(s):  
Papillary Carcinoma ◽  
Follicular Carcinoma ◽  
Objective Evaluation ◽  
Lymphatic Invasion ◽  
Benign Tumors ◽  
Image Analysis System ◽  
Follicular Variant ◽  
Over Expression ◽  
Chromatin Pattern ◽  
Molecular Features

Thyroid follicular adenomas (FA) are encapsulated tumors lacking vascular, capsular or lymphatic invasion and the typical nuclear features of papillary carcinoma (PC). However, some FA demonstrate nuclear atypia reminiscent of either follicular carcinomas (FC) or follicular variant of papillary carcinomas (FVPC), suggesting they may represent precursors of malignant transformation. We hypothesized that an objective evaluation of nuclear chromatin patterns could be used to define atypical follicular tumors (AFT) that are likely to be premalignant. To test this hypothesis, we used a computer-aided image analysis system to define the chromatin pattern of nuclei from thyroid tumors. To validate the system, we analyzed 3000 nuclei from 10 FA, 10 FC, and 10 FVPC samples and accurately distinguished between these classes of tumors. Then, we analyzed nine AFT and, in parallel, we analyzed the tumors for activating mutations of N2-RAS and over-expression of RET. The predominant chromatin pattern of AFT was of FA type in two cases, FC type in two cases, and PC type in three cases. One case contained similar numbers of FC and PC nuclei and one was comprised of a mixture of the three nuclear types. Neither RAS mutation nor RET overexpression were detected in FA. N2-RAS mutations were found in 33% of AFT, 20% of FC and 20% of FVPC without correlation with chromatin pattern. Over-expression of RET was detected in 45% of AFT, 20% of FC and 50% of FVPC and was correlated with PC nuclei. These results show that AFT are a heterogenous group of tumors, containing genuine benign tumors and tumors that share morphological and molecular features with follicular and papillary carcinomas that might be precursors of both types of thyroid carcinomas.

Diagnosis of the multiglandular endocrine neoplasias

1990 ◽  
Vol 36 (5) ◽  
pp. 711-718 ◽  
Author(s):  
H G Bone
Keyword(s):  
Autosomal Dominant ◽  
Clinical Presentation ◽  
Autosomal Dominant Inheritance ◽  
Endocrine Gland ◽  
Endocrine Tumors ◽  
Dominant Inheritance ◽  
Inheritance Patterns ◽  
Endocrine Neoplasia

Abstract Multiglandular endocrine neoplasia syndromes are disorders characterized by autosomal dominant inheritance patterns and by the striking patterns of clinical presentation of these endocrine tumors, which are often hormonally active. Not every patient with adenomas of more than one endocrine gland has one of these classical familial syndromes. This paper will deal with the specific diseases known as multiglandular endocrine neoplasia Types 1, 2A, and 2B. Types 2A and 2B are also known as Types II and III.

scholarly journals Skull base reconstruction after anterior subcranial tumor resection

2002 ◽  
Vol 12 (5) ◽  
pp. 1-7 ◽  
Author(s):  
Dan M. Fliss ◽  
Ziv Gil ◽  
Sergey Spektor ◽  
Leonor Leider-Trejo ◽  
Avraham Abergel ◽  
...  
Keyword(s):  
Skull Base ◽  
Double Layer ◽  
Fibrous Tissue ◽  
Fascia Lata ◽  
Anterior Skull Base ◽  
Benign Tumors ◽  
Skull Base Reconstruction ◽  
Reliable Technique ◽  
Tension Pneumocephalus ◽  
Csf Leakage

Object The goal of this study was to demonstrate the efficacy of a simple and reliable technique for anterior skull base and craniofacial reconstruction in patients who have undergone excision of tumors via the subcranial approach. Methods There were 63 patients who had undergone 71 anterior skull base resections of tumors via the aforementioned approach. Twenty-nine cases (41%) involved malignant tumors and 42 (59%) involved benign tumors. Reconstruction of the anterior skull base was performed by a single team who used double-layer fascial graft. Limited dural defects were reconstructed using the temporalis fascia, whereas large anterior skull base defects were reconstructed using a fascia lata sheath. Reconstruction was achieved without the support of bone graft or titanium mesh and without pericranial, galeal, or free flaps. Pericranial flap wrapping of the frontonasoorbital segment was performed to prevent osteoradionecrosis if postoperative radiotherapy was planned. The incidence of cerebrospinal fluid (CSF) leakage, intracranial infection, and tension pneumocephalus was 5.6%. Histopathological examination of fascia lata grafts obtained in patients who had undergone a second procedure demonstrated integration of vascularized fibrous tissue to the graft, as well as local proliferation of a newly formed vascular layer embedding the fascial sheath. Conclusions The use of a double-layer fascial graft alone was adequate for prevention of CSF leakage, meningitis, tension pneumocephalus, and brain herniation. The double-layer fascial flap provided a simple and reliable means for anterior skull base reconstruction after en bloc resection of both malignant and benign tumors.

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