Histiocytic Sarcoma in the Kidney: A Rare Presentation

2019 ◽  
Vol 152 (Supplement_1) ◽  
pp. S72-S72
Author(s):  
Priya Johal
Keyword(s):  
De Novo ◽  
Cell Cancer ◽  
Histiocytic Sarcoma ◽  
Unknown Etiology ◽  
Rare Presentation ◽  
Transplant Patients ◽  
Clinical Presentations ◽  
Eosinophilic Cytoplasm ◽  
Wide Range ◽  
History Of

Abstract Background Histiocytic sarcoma is a rare neoplasm of mature histiocytes with a wide range of clinical presentations and manifestations. The heterogeneity of this neoplasm can cause difficulty in both diagnosis and treatment. It is a diagnosis of exclusion, requiring verification of the histiocytic lineage and the exclusion of other B-cell related malignancies. Although cases of postrenal transplant histiocytic sarcoma have been reported, incidences in a native kidney are rare. Case Report We present the case of a 70-year-old male with a history of colorectal adenocarcinoma, status post chemotherapy, with an incidental exophytic renal mass found on imaging, which was determined to be a sarcomatoid renal cell cancer on biopsy. Radical nephrectomy was performed, revealing a 4.5 × 3.5 × 3.2-cm mass invading the renal pelvis and fat. Microscopic examination of the tumor showed large, poorly cohesive neoplastic cells with abundant pale, eosinophilic cytoplasm that stained positive for vimentin, CD4, CD163, and CD68 and weakly/focally positive for lysozyme. Negative immunostains included PAX-8, pan-CK, AE1/AE3, HMB45, S100, CD34, CD30, ALK1, CD1a, myeloperoxidase, CD138, myo-D1, SMA, and CD21. A diagnosis of histiocytic sarcoma, grade 4 was made based on these findings. Discussion Histiocytic sarcoma is a disease of unknown etiology accounting for less than 1% of all hematolymphoid neoplasms. Our literature review revealed no other cases arising de novo in the kidney, but several cases were reported in postrenal transplant patients. Diagnosis of histiocytic sarcoma is difficult as it is a diagnosis of exclusion. The immunohistochemical profile most often expresses lysosome-related markers, such as CD68, CD163, or lysozyme. Additionally, negative staining is expected for markers related to B cells, T cells, and melanocytes. The cells are often large with eosinophilic cytoplasm, well-defined borders, and vesicular chromatin. Although there are numerous differentials, distinct morphologic and immunohistochemical features allow for accurate diagnosis.

scholarly journals R1352Q CACNA1A Variant in a Patient with Sporadic Hemiplegic Migraine, Ataxia, Seizures and Cerebral Oedema: A Case Report

2021 ◽  
pp. 123-130
Author(s):  
Anker Stubberud ◽  
Emer O’Connor ◽  
Erling Tronvik ◽  
Henry Houlden ◽  
Manjit Matharu
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Genetic Testing ◽  
Head Trauma ◽  
Cerebral Oedema ◽  
De Novo ◽  
Minor Head Trauma ◽  
Hemiplegic Migraine ◽  
Wide Range ◽  
History Of

Mutations in the <i>CACNA1A</i> gene show a wide range of neurological phenotypes including hemiplegic migraine, ataxia, mental retardation and epilepsy. In some cases, hemiplegic migraine attacks can be triggered by minor head trauma and culminate in encephalopathy and cerebral oedema. A 37-year-old male without a family history of complex migraine experienced hemiplegic migraine attacks from childhood. The attacks were usually triggered by minor head trauma, and on several occasions complicated with encephalopathy and cerebral oedema. Genetic testing of the proband and unaffected parents revealed a de novo heterozygous nucleotide missense mutation in exon 25 of the <i>CACNA1A</i> gene (c.4055G&#x3e;A, p.R1352Q). The R1352Q <i>CACNA1A</i> variant shares the phenotype with other described <i>CACNA1A</i> mutations and highlights the interesting association of trauma as a precipitant for hemiplegic migraine. Subjects with early-onset sporadic hemiplegic migraine triggered by minor head injury or associated with seizures, ataxia or episodes of encephalopathy should be screened for mutations. These patients should also be advised to avoid activities that may result in head trauma, and anticonvulsants should be considered as prophylactic migraine therapy.

scholarly journals CD45RC Expression of Circulating CD8+ T Cells Predicts Acute Allograft Rejection: A Cohort Study of 128 Kidney Transplant Patients

2019 ◽  
Vol 8 (8) ◽  
pp. 1147 ◽  
Author(s):  
Lemerle ◽  
Garnier ◽  
Planchais ◽  
Brilland ◽  
Subra ◽  
...  
Keyword(s):  
T Cells ◽  
T Cell ◽  
Kidney Transplant ◽  
Cd8 T Cells ◽  
De Novo ◽  
Predictive Biomarkers ◽  
Transplant Patients ◽  
History Of ◽  
Kidney Transplant Patients ◽  
A Prospective Study

Predictive biomarkers of acute rejection (AR) are lacking. Pre-transplant expression of CD45RC on blood CD8+ T cells has been shown to predict AR in kidney transplant (KT) patients. The objective of the present study was to study CD45RC expression in a large cohort of KT recipients exposed to modern immunosuppressive regimens. CD45RC expression on T cells was analyzed in 128 KT patients, where 31 patients developed AR, of which 24 were found to be T-cell mediated (TCMR). Pre-transplant CD4+ and CD8+ CR45RChigh T cell proportions were significantly higher in patients with AR. The frequency of CD45RChigh T cells was significantly associated with age at transplantation but was not significantly different according to gender, history of transplantation, pre-transplant immunization, and de novo donor specific anti-Human Leucocyte Antigen (HLA) antibody. Survival-free AR was significantly better in patients with CD8+ CD45RChigh T cells below 58.4% (p = 0.0005), but not different according to CD4+ T cells (p = 0.073). According to multivariate analysis, CD8+ CD45RChigh T cells above 58.4% increased the risk of AR 4-fold (HR 3.96, p = 0.003). Thus, pre-transplant CD45RC expression on CD8+ T cells predicted AR, mainly TCMR, in KT patients under modern immunosuppressive therapies. We suggest that CD45RC expression should be evaluated in a prospective study to validate its usefulness to quantify the pre-transplant risk of AR.

scholarly journals Scar sarcoidosis: additional involvement of de novo sites and update on immunopathogenesis

2019 ◽  
Vol 5 (4) ◽  
pp. 898
Author(s):  
Vasudha A. Belgaumkar ◽  
Ravindranath B. Chavan ◽  
Prernaa R. Suryataley ◽  
Pallavi P. Patil ◽  
Vijay V. Raut
Keyword(s):  
Developing Countries ◽  
Inflammatory Disease ◽  
De Novo ◽  
Unknown Etiology ◽  
Cutaneous Sarcoidosis ◽  
Diverse Range ◽  
Noncaseating Granuloma ◽  
Immune Mediated ◽  
Clinical Presentations ◽  
Scar Sarcoidosis

Cutaneous sarcoidosis is an immune-mediated multisystem granulomatous inflammatory disease of unknown etiology. Noncaseating granuloma in pre-existing scars is an uncommon but specific cutaneous manifestation of sarcoidosis. This great imitator may be an under-diagnosed disease in developing countries like India probably because of the diverse range of clinical presentations. Herein we present a 45-year old female with cutaneous sarcoidosis involving scars in addition to de-novo sites.

scholarly journals Establishing the diagnosis neurofibromatosis type 1: A rare case

2019 ◽  
Author(s):  
Dyatiara Devy ◽  
D. Damayanti
Keyword(s):  
Neurofibromatosis Type 1 ◽  
De Novo ◽  
Malignant Tumors ◽  
Neurofibromatosis Type ◽  
The Body ◽  
Multisystem Disorder ◽  
Wide Range ◽  
Multidisciplinary Clinic ◽  
History Of

Neurofibromatosis type 1 (NF1) or Von Recklinghausen's disease is a dominantly inherited genetic, multisystem disorder. Individuals with neurofibromatosis type 1 are prone to develop benign and malignant tumors of the CNS and peripheral nervous system, in addition to malignant diseases affecting other parts of the body. About 50% of individuals with neurofibromatosis type 1 have no family history of the disease and the disease is due to de novo (spontaneous) mutations. Early diagnosis is challenging because of its extremely variable characteristics. Some individuals may be mildly affected showing minimal signs, whereas others are severely afflicted. Individuals with NF-1 are best cared for within a multidisciplinary clinic, which has access to a wide range of subspecialists. The dermatologist has a role not only in the diagnosis of NF1 and differentiating it from other similar disorders, but also in the recognition of rare associated skin manifestations.

scholarly journals Chromosome 20p Partial De Novo Duplication Identified in a Female Paediatric Patient with Characteristic Facial Dysmorphism and Behavioural Anomalies

2020 ◽  
Vol 2020 ◽  
pp. 1-6
Author(s):  
Shahzaib Khattak ◽  
Meryam Jan ◽  
Sara Warsi ◽  
Sohail Khattak
Keyword(s):  
Scientific Literature ◽  
De Novo ◽  
Heart Defects ◽  
Self Regulation ◽  
Alagille Syndrome ◽  
Copy Number Variations ◽  
Facial Dysmorphism ◽  
Limited Data ◽  
Wide Range ◽  
History Of

Copy number variations (CNVs) involving the JAG1 gene are rare and infrequently reported in the scientific literature. Recently, a generally healthy young patient presenting with a history of behavioural concerns was referred to us. Herein, we discuss the patient, a 7-year-old female possessing a 0.797 Mb microduplication within the short arm of chromosome 20 at band 12.2. The patient generates considerable curiosity due to the rarity of her case, which includes a de novo partial duplication involving the JAG1 gene. The patient exhibits a wide range of symptoms including facial dysmorphism (dolichocephaly, round face, tented philtrum, anteverted nares, and micrognathia), clinodactyly, and an inborn congenital heart defect. She presented with behavioural concerns including ADHD-I, SPD, motor clumsiness, and poor self-regulation. Deletions in JAG1 are often linked to Alagille Syndrome; however, complete duplications have not been specifically identified as disease-causing. JAG1 mutations are reported alongside various clinical features including facial dysmorphology, heart defects, vertebral abnormalities, and ocular dysmorphic features (strabismus, epicanthal folds, and slanted palpebral fissures). This particular microduplication is rare, and thus, limited data exist regarding its significance. To our knowledge, most reported duplications are larger than 0.797 Mb. This may define a critical region causing phenotypical changes in some patient cases.

scholarly journals Erosive pustular dermatosis of the scalp - is it really a rare condition?

2014 ◽  
Vol 71 (3) ◽  
pp. 307-310 ◽  
Author(s):  
Olivera Levakov ◽  
Branislava Gajic
Keyword(s):  
Infectious Agent ◽  
Rare Condition ◽  
The Elderly ◽  
Unknown Etiology ◽  
Topical Steroids ◽  
Physical Trauma ◽  
Scarring Alopecia ◽  
Clinical Presentations ◽  
Local Trauma ◽  
History Of

Introduction. Erosive pustular dermatosis of the scalp (EPDS) is a rare disorder of unknown etiology that usually occurs in the elderly and is characterized by multiple pustules, erosions and crusts that appear on the scalp leading to scarring alopecia. The histopathology and laboratory tests are not specific which is the reason that EPDS is a frequently misdiagnosed condition. Case report. We presented two patients with EPDS. The first patient had the known history of local trauma, both patients had chronic recidivant process, classic clinical presentations, and nonspecific histological findings. Each patient had prompt therapeutical response to potent topical steroids. Conclusion. The diagnosis of EPDS can be made if a condition fulfills the following criteria: atrophic or actinic damaged skin, clinical association of erosions, pustules, scales and crusts, no specific histopathology, no infectious agent found responsible for the condition, and chronic course leading to scarring alopecia, and prompt response to the treatment with topical steroids. The history of chemical or physical trauma is often present.

scholarly journals Seven Billion Microcosms: Evolution within Human Microbiomes

mSystems ◽  
2018 ◽  
Vol 3 (2) ◽  
Author(s):  
Tami D. Lieberman
Keyword(s):  
De Novo ◽  
Human Microbiome ◽  
Survival Strategies ◽  
System Level ◽  
Individual Species ◽  
Knowledge Gap ◽  
Bacterial Strains ◽  
Wide Range ◽  
Evolutionary Inference ◽  
History Of

ABSTRACT Rational microbiome-based therapies may one day treat a wide range of diseases and promote wellness. Yet, we are still limited in our abilities to employ such therapies and to predict which bacterial strains have the potential to stably colonize a person. The Lieberman laboratory is working to close this knowledge gap and to develop an understanding of how individual species and strains behave in the human microbiome, including with regard to their niche ranges, survival strategies, and the degree to which they adapt to individual people. We employ system-level approaches, with a particular emphasis on using de novo mutations and evolutionary inference to reconstruct the history of bacterial lineages within individuals.

The Ubiquitin-Proteasome Pathway and Its Role in Cancer

2005 ◽  
Vol 23 (21) ◽  
pp. 4776-4789 ◽  
Author(s):  
Aparna Mani ◽  
Edward P. Gelmann
Keyword(s):  
Cell Cycle ◽  
Protein Degradation ◽  
Ubiquitin Ligase ◽  
De Novo ◽  
Cell Cancer ◽  
26S Proteasome ◽  
Great Promise ◽  
Major Pathway ◽  
Cellular Processes ◽  
Wide Range

Critical cellular processes are regulated, in part, by maintaining the appropriate intracellular levels of proteins. Whereas de novo protein synthesis is a comparatively slow process, proteins are rapidly degraded at a rate compatible with the control of cell cycle transitions and cell death induction. A major pathway for protein degradation is initiated by the addition of multiple 76–amino acid ubiquitin monomers via a three-step process of ubiquitin activation and substrate recognition. Polyubiquitination targets proteins for recognition and processing by the 26S proteasome, a cylindrical organelle that recognizes ubiquitinated proteins, degrades the proteins, and recycles ubiquitin. The critical roles played by ubiquitin-mediated protein turnover in cell cycle regulation makes this process a target for oncogenic mutations. Oncogenes of several common malignancies, for example colon and renal cell cancer, code for ubiquitin ligase components. Cervical oncogenesis by human papillomavirus is also mediated by alteration of ubiquitin ligase pathways. Protein degradation pathways are also targets for cancer therapy, as shown by the successful introduction of bortezomib, an inhibitor of the 26S proteasome. Further work in this area holds great promise toward our understanding and treatment of a wide range of cancers.

Rare case of clear cell renal cell carcinoma presenting as a unilateral tonsil lesion

2020 ◽  
Vol 13 (12) ◽  
pp. e237941
Author(s):  
Shawn David Ellis ◽  
Alison Meikle ◽  
Wassim Al-Salti ◽  
Georges Sinclair
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Kinase Inhibitor ◽  
Lung Metastases ◽  
Cell Cancer ◽  
Rare Presentation ◽  
Cell Renal Cell Carcinoma ◽  
History Of ◽  
Diagnosis Of Cancer

A 70-year-old man presented with gradually worsening throat discomfort. He had no prior diagnosis of cancer and no travel history of note. Examination revealed a right-sided painless neck lump. He underwent an MRI of the neck, revealing a gadolinium-enhancing tonsillar mass and two brain lesions. Biopsy of the tonsil lesion was in keeping with an epithelial neoplasm, suggesting metastatic renal cell carcinoma. This was confirmed following a staging CT, which revealed a left renal mass and lung metastases. Due to his brain metastases, the patient has been started on the tyrosine kinase inhibitor cabozantinib. A brief discussion on the diagnostic evaluation of a tonsil mass as a rare presentation of renal cell cancer follows this report.

scholarly journals Engineered Collagen Matrices

2020 ◽  
Vol 7 (4) ◽  
pp. 163
Author(s):  
Vaidehi A. Patil ◽  
Kristyn S. Masters
Keyword(s):  
Mechanical Properties ◽  
Tissue Engineering ◽  
De Novo ◽  
Synthetic Polymers ◽  
Chemical Modifications ◽  
Collagen Matrices ◽  
Wide Range ◽  
History Of ◽  
The Creation ◽  
Range Of Values

Collagen is the most abundant protein in mammals, accounting for approximately one-third of the total protein in the human body. Thus, it is a logical choice for the creation of biomimetic environments, and there is a long history of using collagen matrices for various tissue engineering applications. However, from a biomaterial perspective, the use of collagen-only scaffolds is associated with many challenges. Namely, the mechanical properties of collagen matrices can be difficult to tune across a wide range of values, and collagen itself is not highly amenable to direct chemical modification without affecting its architecture or bioactivity. Thus, many approaches have been pursued to design scaffold environments that display critical features of collagen but enable improved tunability of physical and biological characteristics. This paper provides a brief overview of approaches that have been employed to create such engineered collagen matrices. Specifically, these approaches include blending of collagen with other natural or synthetic polymers, chemical modifications of denatured collagen, de novo creation of collagen-mimetic chains, and reductionist methods to incorporate collagen moieties into other materials. These advancements in the creation of tunable, engineered collagen matrices will continue to enable the interrogation of novel and increasingly complex biological questions.

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