Primary Pure Angiosarcoma of the Testis: A Case Report

Angiosarcoma is a rare and aggressive, malignant neoplasm of endothelial-cell origin. A primary angiosarcoma originating in the testicle is extremely rare, with only five previous cases reported in the current literature. We report a case of primary, pure angiosarcoma of the testis in a 63-year-old patient with no history of previous chemotherapy or radiation therapy. By histology, the tumor was a high-grade spindle cell neoplasm, arranged in sheets and poorly-formed vascular channels. The tumor cells were positive for vascular markers (CD31, CD34) by immunohistochemical staining. No evidence of a germ cell component was seen by morphology, immunohistochemistry, or molecular genetic studies. This finding is unique in that it is one of only three reported cases of primary angiosarcomas of the testicle without a germ cell precursor or component.

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Molecular genetic verification of isolated mineralocorticoid deficiency due to aldosterone synthase deficiency

Problems of Endocrinology ◽

10.14341/probl200955128-30 ◽

2009 ◽

Vol 55 (1) ◽

pp. 28-30

Author(s):

N Yu Kalinchenko ◽

N A Zubkova ◽

A N Tyulpakov

Keyword(s):

Autosomal Recessive ◽

Molecular Genetic ◽

Autosomal Recessive Disorder ◽

Adrenal Hyperplasia ◽

Genetic Studies ◽

Aldosterone Synthase ◽

Salt Wasting ◽

History Of ◽

17 Hydroxyprogesterone ◽

Aldosterone Synthase Deficiency

Isolated mineralocorticoid deficiency is a rare hereditary autosomal recessive disorder that is characterized by salt wasting and that has the severest manifestations in infants. This paper is the first in the Russian literature to describe cases of isolated aldosterone deficiency. In both cases, the patients were monitored and treated for misdiagnosed congenital adrenal hyperplasia; however, the permanently low level of 17-hydroxyprogesterone could put in doubt the diagnosis and suspect isolated mineralocorticoid deficiency, by keeping in mind a history of salt wasting. By using the presented cases as an example, the authors give an algorithm for the examination and differential diagnosis of this condition and other diseases that have the similar clinical picture. Aldosterone synthase deficiency in patients was verified by molecular genetic studies - there were mutations in the CYP112 gene.

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Small Intestinal Angiosarcoma Leading to Perforation and Acute Abdomen

Archives of Pathology & Laboratory Medicine ◽

10.5858/2004-128-95-sialtp ◽

2004 ◽

Vol 128 (1) ◽

pp. 95-98

Author(s):

Katalin Kelemen ◽

Qing Qing Yu ◽

Lydia Howard

Keyword(s):

Malignant Neoplasm ◽

The Elderly ◽

Severe Bleeding ◽

Multiple Tumor ◽

Distal Small Intestine ◽

Computed Tomographic ◽

Free Air ◽

Undifferentiated Cells ◽

History Of ◽

Vascular Channels

Abstract A 76-year-old man presented to the emergency room with abdominal pain and fatigue. The patient had a history of gastrointestinal bleeding. An abdominal computed tomographic scan showed collections of free air in the abdomen with obstruction of the distal small intestine and multiple masses in the liver. Laparotomy revealed a widespread malignant neoplasm in the abdomen, with multiple tumor nodules in the ileal wall, mesentery, and liver. The ileal wall was perforated within the area of one of the tumors. Pathologic examination of the lesion showed a neoplasm composed of solid sheets of spindle and undifferentiated cells, forming interlacing delicate vascular channels with atypical endothelial cells. The tumor cells were positive for the endothelial marker CD31, whereas reactivity for a broad panel of epithelial and other endothelial markers was negative. This case demonstrates that although angiosarcomas of the gastrointestinal tract are rare, they should be considered in cases of intestinal perforation or severe bleeding, especially in the elderly. A broad panel of immunochemical markers might be necessary to establish the pathologic diagnosis.

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Origin of a second malignancy harboring isochromosome 12p [i(12p)] in patients with history of testicular germ cell tumor (TGCT).

Journal of Clinical Oncology ◽

10.1200/jco.2020.38.6_suppl.412 ◽

2020 ◽

Vol 38 (6_suppl) ◽

pp. 412-412

Author(s):

Michael J. Hwang ◽

Bilal A. Siddiqui ◽

Kelly W. Merriman ◽

Joma Uthup ◽

John Francis Ward ◽

...

Keyword(s):

Germ Cell ◽

Cell Cancer ◽

Malignant Neoplasm ◽

Testicular Germ Cell Tumor ◽

Solid Cancer ◽

Testicular Germ Cell ◽

Somatic Transformation ◽

History Of ◽

Md Anderson ◽

Testicular Germ Cell Cancer

412 Background: The cumulative incidence of subsequent solid malignant neoplasm (SMN) after treatment of TGCT is about 10% over a 25-year period. i(12p) has been used to define tumor of germ cell origin. We evaluated the prevalence of i(12p) on various subsequent SMN in patients with a history of TGCT. Methods: From the Tumor Registry database at MD Anderson, we identified 655 TGCT patients who developed a second (third or fourth) malignancy between January 1990 and September 2018. Of those 114 SMN from the GI tract, GU system, chest, brain, sarcomas or melanomas between 2011 and 2017, 43 had tumor tissue available at our institution and of sufficient quality for fluorescence in situ hybridization (FISH) of i(12p). Results: Our cohort comprised 43 patients, excluding 2 cases (#6 and 7) whose SMN tested positive and their non-tumor controls negative for i(12p). Diagnosis of primary TGCT and SMN: age, mean 41 yrs (range 20-68 yrs) and 59 yrs (range 34-86 yrs), respectively, and interval of 18 yrs (range 0-57 yrs). Of those 43 cases (5 did not hybridize), 5 (11%) harbored i(12p), while 16 (37%) had additional copies of chromosome 12 without apparent gain of 12p. Conclusions: Prevalence of i(12p) on subsequent SMN in our patient cohort with a history of TGCT was 11%. Detection of i(12p) in those patients with TGCT in general and with nonseminomas in particular suggests somatic transformation, emphasizes importance of a complete surgical resection of residual teratomatous tumor after chemotherapy, and implicates a stem-cell origin and nature (e.g., plasticity, heterogeneity, dormancy) of cancer. *deceased; Rx – initial treatments; S – seminoma; NS – nonseminoma; BEP – bleomycin, etoposide, cisplatin; CEB – carboplatin, etoposide, bleomycin; XRT – radiation therapy. Groot HJ, Lubberts S, de Wit R, et al. Risk of solid cancer after treatment of testicular germ cell cancer in the platinum era. J Clin Oncol 2018;36:2504-13.

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Inheritance of random amplified polymorphic DNA markers in cassava (Manihot esculenta Crantz)

Genome ◽

10.1139/g96-130 ◽

1996 ◽

Vol 39 (5) ◽

pp. 1039-1043 ◽

Cited By ~ 9

Author(s):

Rocio Gomez ◽

Fernando Angel ◽

Merideth W. Bonierbale ◽

Fernando Rodriguez ◽

Joseph Tohme ◽

...

Keyword(s):

Single Dose ◽

Rapd Markers ◽

Random Amplified Polymorphic Dna ◽

Molecular Genetic ◽

Manihot Esculenta Crantz ◽

Genetic Studies ◽

Genetic Segregation ◽

Molecular Genetic Map ◽

History Of ◽

Hybrid Clones

The informativeness and inheritance of randomly amplified polymorphic DNA (RAPD) markers were investigated in an intraspecific F1 progeny derived from two heterozygous parents. The analysis confirmed the utility of RAPD markers for comparing candidate parents for the development of a molecular genetic map, and provided numerous markers for linkage analysis in a crop with a very limited history of classical or molecular genetic studies. Six potential parental lines (themselves F1 hybrid clones) showed between 1.82 and 0.62 segregating bands per primer in three hybrid families. Forty-three percent (309) of 722 primers produced polymorphic products in the most informative of these three crosses, revealing 328 single-dose (SD) markers segregating 1:1 for presence/absence in a progeny of 90 individuals. A second class of informative markers were those present in both parents but segregating in the progeny. Fifty-seven or 67% of the monomorphic but segregating markers exhibited the 3:1 ratio expected for SD dominant markers in a cross between heterozygotes. Linkage groups were constructed from the segregation of SD RAPD markers originating in the female (TMS 30572) and the male (CM2177-2) parent. Key words : RAPDs, molecular markers, genetic segregation, Manihot, single-dose markers.

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Molecular genetic studies of Chilean avifauna: an overview about current progress

Neotropical Biology and Conservation ◽

10.3897/neotropical.14.e48588 ◽

2019 ◽

Vol 14 (4) ◽

pp. 459-477

Author(s):

Nelson Colihueque ◽

Alberto Gantz

Keyword(s):

Molecular Genetic ◽

Research Field ◽

Bibliographic Databases ◽

Genetic Studies ◽

Origin And Evolution ◽

Research Areas ◽

Or Groups ◽

D Loop ◽

History Of ◽

Active Research

The biodiversity of Chilean avifauna has been shaped by geological events, geographical factors and extreme climatic regimens. Molecular genetic studies developed to date have begun to provide valuable information to elucidate the effect of these factors on the evolutionary history of Chilean birds. We conducted a search in two bibliographic databases (PubMed and Scopus) over the period between 1998 and 2018 to identify the number and class of articles published in this research field. The quantification of specific research categories was also performed to assess progress in different molecular genetic issues of Chilean birds. Representative studies of the more active research areas: population structure, phylogeography, systematics and taxonomy and genetic diversity, were briefly commented on. Studies on genetic divergence analysis of cryptic species and the underlying genetics at molecular level of adaptive phenotypes in populations, were very scarce. Several types of mitochondrial and nuclear markers have been used, with COI plus D-loop and microsatellite loci, respectively, being the most widely-used markers. However, high-throughput analyses based on complete mitochondrial genomes have also been published. More than one hundred species have been analyzed; the most studied groups being penguins, followed by New World swallows. Although, to date, molecular genetic studies of Chilean birds still require further analysis, the studies available on some species or groups have provided important data to improve our understanding of the origin and evolution of this avifauna.

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Association of ADRB2 gene polymorphism with dilated cardiomyopathy

Cardiosomatics ◽

10.26442/22217185.2021.1.200772 ◽

2021 ◽

Vol 12 (1) ◽

pp. 28-33

Author(s):

Svetlana Y. Nikulina ◽

Оksana O. Kuznetsova ◽

Anna A. Chernova ◽

Gennadiy V. Matyushin ◽

Anna A. Gurazheva ◽

...

Keyword(s):

Dilated Cardiomyopathy ◽

Molecular Genetic ◽

Rare Allele ◽

Control Group ◽

Genetic Studies ◽

Homozygous Genotype ◽

Number Of Patients ◽

History Of ◽

The Common ◽

Adrb2 Gene

Aim. To study the association of the rs1042713 polymorphism of the ADRB2 gene with cardiomyopathies of various origins. Material and methods. The study included patients with dilated cardiomyopathy (DCMP) and myocardial dilatation of ischemic genesis (DM IG).The total number of people surveyed is 221. The average age of the subjects was 55.309.69 years. Patients were divided into 2 groups: one of them patients with a diagnosis of dilated cardiomyopathy idiopathic (predictors of expansion of the heart cavities are excluded) and the other-patients with dilated myocardium of ischemic origin (a history of IHD). The number of patients in the first group was 111, including 99 (89.2%) men and 12 (10.8%) women. The average age of patients in this group is 51.739.74 years. The second group included patients with myocardial dilatation of ischemic origin. Their number is 110 people, including 100 (91.5%) men and 10 (8.5%) women. The average age of the respondents is 58.688.38 years. The control group consists of individuals who did not have any manifestations of cardiovascular diseases. Their number is 221 people (average age 53.64.8 years). Laboratory and instrumental studies, coronary angiography, and molecular genetic studies of the rs1042713 polymorphism of the ADRB2 gene were performed for all participants in the study. Those patients who were excluded predictors of the occurrence of dilation of the heart cavities were assigned to the first group. The second group included patients with a history of CHD. Results. In the group with DCMP, 10.8% of patients were carriers of the common homozygous AA genotype, the heterozygous AG genotype 48.6%, and the rare homozygous GG genotype 40.5%. In the group of patients with DM IG, 16.4% of patients were carriers of the common homozygous AA genotype, the heterozygous AG genotype 51.8%, and the rare homozygous GG genotype 31.8%. In the control group, 11.8% of patients were identified as carriers of the homozygous genotype for the common allele, 47.5% carriers of the heterozygous genotype, and 40.7% carriers of the homozygous genotype for the rare allele. No statistically significant results were obtained in the group of patients with DCMP and DM IG compared to the control group of the rs1042713 polymorphism of the ADRB2 gene. Conclusion. No association of ADRB2 gene rs1042713 polymorphism with DCMI and DM IG was revealed.

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A growing sense of well-being: a literature review on the complex framework well-being.

10.31234/osf.io/3rmx9 ◽

2018 ◽

Cited By ~ 2

Author(s):

Margot van de Weijer ◽

Bart Baselmans ◽

Willem van der Deijl ◽

Meike Bartels

Keyword(s):

Social Sciences ◽

Literature Review ◽

Gene Expression Regulation ◽

Molecular Genetic ◽

Well Being ◽

Subjective Well Being ◽

Genetic Studies ◽

Biological Studies ◽

History Of ◽

Insight Into

This review examines the origin and structure of the complex well-being (WB) concept as it is currently applied in behavioral and social sciences. Current research on WB is often divided into two perspectives: subjective well-being (SWB) and psychological well-being (PWB), shaped by the philosophical concepts of hedonism and eudaimonism, respectively. How these different views relate to each other and to WB as a whole has not yet been clearly defined, leading to difficulties in interpretation. In this review, we aim to get more insight into the relation between SWB and PWB. We first present an overview of the philosophical history of SWB and PWB, followed by a systematic literature review. The goal of this review, based on 29 studies, was to investigate how much evidence there is for a conceptual overlap between SWB and PWB. A majority of the studies found appreciable shared variance between the constructs, suggesting that they might be more closely related than previously assumed. On the other hand, evidence from biological studies provides mixed results: a distinction between SWB and PWB based on unique biomarkers is reported, while recent molecular genetic studies show strong genomic overlap between SWB and PWB, but different gene-expression regulation. We end with a discussion on how these findings fit into a well-being framework, and describe some of the issues in the well-being field as we encountered them in our review followed by potential solutions to these problems.

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