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hereditary melanoma

Anas Alsara, Muhammad Rafi
Limbal Stem Cells are a unique cell line located at the corneal limbus. They are responsible for regenerating and restoring corneal epithelial layers. Limbal stem cell transplantation is a promising technique that has been used to treat several hereditary and acquired corneal diseases. Cornea tissue lack vascularity. Hence, there were no special restrictions on collecting ocular tissues from donors with a diagnosis of metastatic melanoma. We are reporting a case of a patient who developed an ocular melanoma after she had limbal stem cell transplantation from a donor with history of melanoma...
April 2017: Avicenna Journal of Medicine
Lacy L Sommer, Rhonda E Schnur, Warren R Heymann
BACKGROUND: Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) is an autosomal dominant syndrome due to mutation in fumarate hydratase. Patients with HLRCC frequently develop cutaneous and uterine leiomyomata and are at risk for renal cell carcinoma. Rarely, other malignancies have been reported. MAIN OBSERVATIONS: We report the development of basal cell carcinoma and melanoma in two siblings with genetically-confirmed HLRCC. CONCLUSIONS: It is unclear whether the development of melanoma and basal cell carcinoma in our patients is due directly to their mutations in the gene encoding fumarate hydratase, or genetic susceptibility at another unrelated locus, or whether these are incidental lesions...
November 30, 2016: Journal of Dermatological Case Reports
Tremika Le-Shan Wilson, Namita Hattangady, Antonio Marcondes Lerario, Carmen Williams, Erika Koeppe, Shane Quinonez, Jenae Osborne, Kelly B Cha, Tobias Else
Melanomas are associated with several hereditary conditions. We present a large family with several family members affected with primary melanomas and dysplastic nevi as well as thyroid cancer and other malignant tumors. Clinical work-up did not reveal a mutation in any of the genes usually considered with evaluation for predisposition to melanoma (BRCA1/2, CDKN2A, CDK4, PTEN, TP53). Whole exome sequencing of five affected family members showed a new variant in POT1. POT1 is associated with the telomere shelterin complex that regulates telomere protection and telomerase access...
April 7, 2017: Familial Cancer
Sancy A Leachman, Olivia M Lucero, Jone E Sampson, Pamela Cassidy, William Bruno, Paola Queirolo, Paola Ghiorzo
Several distinct melanoma syndromes have been defined, and genetic tests are available for the associated causative genes. Guidelines for melanoma genetic testing have been published as an informal "rule of twos and threes," but these guidelines apply to CDKN2A testing and are not intended for the more recently described non-CDKN2A melanoma syndromes. In order to develop an approach for the full spectrum of hereditary melanoma patients, we have separated melanoma syndromes into two types: "melanoma dominant" and "melanoma subordinate...
March 2017: Cancer Metastasis Reviews
Valentina S Vysotskaia, Gregory J Hogan, Genevieve M Gould, Xin Wang, Alex D Robertson, Kevin R Haas, Mark R Theilmann, Lindsay Spurka, Peter V Grauman, Henry H Lai, Diana Jeon, Genevieve Haliburton, Matt Leggett, Clement S Chu, Kevin Iori, Jared R Maguire, Kaylene Ready, Eric A Evans, Hyunseok P Kang, Imran S Haque
The past two decades have brought many important advances in our understanding of the hereditary susceptibility to cancer. Numerous studies have provided convincing evidence that identification of germline mutations associated with hereditary cancer syndromes can lead to reductions in morbidity and mortality through targeted risk management options. Additionally, advances in gene sequencing technology now permit the development of multigene hereditary cancer testing panels. Here, we describe the 2016 revision of the Counsyl Inherited Cancer Screen for detecting single-nucleotide variants (SNVs), short insertions and deletions (indels), and copy number variants (CNVs) in 36 genes associated with an elevated risk for breast, ovarian, colorectal, gastric, endometrial, pancreatic, thyroid, prostate, melanoma, and neuroendocrine cancers...
2017: PeerJ
Carlos de Torre-Minguela, Pablo Mesa Del Castillo, Pablo Pelegrín
Inflammasomes are multiprotein complexes that critically control different aspects of innate and adaptive immunity. Among them we could highlight the release of pro-inflammatory cytokines that induce and maintain the inflammatory response. Usually, inflammasomes result from oligomerization of a nucleotide-binding domain-like receptor (NLR) after sensing different pathogenic or endogenous sterile dangerous signals; however, other proteins such as absent in melanoma 2, retinoic acid-inducible gene I, or pyrin could also form inflammasome platforms...
2017: Frontiers in Immunology
Lotte J Huibertse, Mies van Eenbergen, Belle H de Rooij, Maarten T Bastiaens, Laurent M C L Fossion, Rob B de la Fuente, Paul J M Kil, Evert L Koldewijn, A H P Meier, Roland J M Mommers, A Q Niemer, Jorg R Oddens, Eric H G M Oomens, Mandy Prins, Kees-Peter de Roos, Monique R T M Thissen, Martine W H Timmermans, Bart P Wijsman, Lonneke V van de Poll-Franse, Nicole P M Ezendam
BACKGROUND: The best practice for the organization of follow-up care in oncology is under debate, due to growing numbers of cancer survivors. Understanding survivors' preferences for follow-up care is elementary for designing patient-centred care. Based on data from prostate cancer and melanoma survivors, this study aims to identify: 1) preferences for follow-up care providers, for instance the medical specialist, the oncology nurse or the general practitioner; 2) characteristics associated with these preferences and 3) the preferred care provider to discuss cancer-related problems...
February 2017: Acta Oncologica
Trine Levin, Lovise Mæhle
Germline mutations in the CDKN2A gene are associated with an increased risk of malignant melanoma and pancreatic cancer. In order to find out if the behavior pattern in families with a CDKN2A mutation is similar to what we previously have described in families with a BRCA1 mutation, we have studied the uptake of genetic services in probands and their relatives. We describe whether they attend genetic counseling when invited, whether they want a mutation test after being counseled and whether they adhere to recommendations for surveillance...
April 2017: Familial Cancer
Henry T Lynch, Marc Rendell, Trudy G Shaw, Peter Silberstein, Binh T Ngo
In this issue of Cancer Research, Almassalha and colleagues have proposed a new concept of the development of malignancy, that of the greater genomic landscape. They propose a stressor-related exploration of intracellular genomic sites as a response mechanism. This process can express sites with beneficial or deleterious effects, among them those that promote cell proliferation. They point out that their conception is broader, although certainly inclusive, of the process of gene induction. The authors view the physical process of chromatin reorganization as central to the exploration of the genomic landscape...
October 1, 2016: Cancer Research
Eiji Nakano, Taro Masaki, Fumio Kanda, Ryusuke Ono, Seiji Takeuchi, Shinichi Moriwaki, Chikako Nishigori
Xeroderma pigmentosum (XP) is a rare autosomal recessive hereditary disease. Patients with XP have severe hypersensitivity to sunlight, resulting in skin cancers, and some patients have neurological symptoms. In Japan, XP complementation group A (XP-A) is the most common form, and it is associated with severe neurological symptoms. We performed a nationwide survey on XP to determine the present status of XP in Japan. The distribution of complementation groups in Japan was considerably different from that in other countries, but there was a higher frequency in group A and the variant type, which is similar to previous reports in Japan...
August 2016: Experimental Dermatology
Åke Andrén-Sandberg, Christoph Ansorge, Thakur Deen Yadav
An elective total pancreatectomy (TP) was first performed by Eugene Rockey of Portland, Oregon, in 1942. In the 1960s and 1970s, TP was the routine resection for pancreatic cancer in many centers because of fear of a leaking pancreatojejunostomy and multicentricity of the disease but the result used to be dreadful (in today's perspective). However, more recently, postoperative mortality and morbidity after pancreatic resections have improved due to better anastomotic technique and pre-, peri- and postoperative care...
2016: Digestive Surgery
Kohji Okamura, Hironari Sakaguchi, Rie Sakamoto-Abutani, Mahito Nakanishi, Ken Nishimura, Mayu Yamazaki-Inoue, Manami Ohtaka, Vaiyapuri Subbarayan Periasamy, Ali Abdullah Alshatwi, Akon Higuchi, Kazunori Hanaoka, Kazuhiko Nakabayashi, Shuji Takada, Kenichiro Hata, Masashi Toyoda, Akihiro Umezawa
Disease-specific induced pluripotent stem cells (iPSCs) have been used as a model to analyze pathogenesis of disease. In this study, we generated iPSCs derived from a fibroblastic cell line of xeroderma pigmentosum (XP) group A (XPA-iPSCs), a rare autosomal recessive hereditary disease in which patients develop skin cancer in the areas of skin exposed to sunlight. XPA-iPSCs exhibited hypersensitivity to ultraviolet exposure and accumulation of single-nucleotide substitutions when compared with ataxia telangiectasia-derived iPSCs that were established in a previous study...
2016: Scientific Reports
Jeremy L Humphris, Andrew V Biankin
Hereditary pancreatic cancer can be diagnosed through family history and/or a personal history of pancreatitis or clinical features suggesting one of the known pancreatic cancer predisposition syndromes. This chapter describes the currently known hereditary pancreatic cancer predisposition syndromes, including Peutz-Jeghers syndrome, familial atypical multiple mole melanoma, hereditary breast and ovarian cancer, Li-Fraumeni syndrome, hereditary non-polyposis colon cancer and familial adenomatous polyposis. Strategies for genetic testing for hereditary pancreatic cancer and the appropriate options for surveillance and cancer risk reduction are discussed...
2016: Recent Results in Cancer Research
Windinmanégdé Pierre Djiguimdé, Ibrahim Abib Diomandé, Nicolas Bonnin, Nicolas Saroul, Abdoulaye Touré, Jérôme Sanou, Paté Sankara, Marc Russier, Laurent Gilain, Ahgbatouhabéba Ahnoux-Zabsonré, Nonfounikoun Meda, Franck Bacin
The authors report a case of a malignant melanoma of the nasal cavity that is a rare tumor and very aggressive, constituting 1% of all melanomas. It appeared in a patient 54 years after he was treated for a hereditary retinoblastoma. Its symptoms are nonspecific, and often marked by epistaxis. Its diagnosis is histological, supported by immunohistochemistry. Its prognosis is often unfavorable, and characterized by the occurrence of metastases and recurrences. Because of the risk of secondary cancer that exists in any survivor of hereditary retinoblastoma, we must think of possible mucosal melanoma of the nasal sinus in these patients in cases of chronic epistaxis...
2016: International Medical Case Reports Journal
Henry T Lynch, Trudy G Shaw
Approximately 5-10 % of cutaneous melanoma occurs in kindreds with a hereditary predisposition. Mutations in the CDKN2A gene are found to occur in approximately 20-40 % of these kindreds. The first historical mention of what is now called the familial atypical multiple mole melanoma syndrome appears to be from 1820, with more reports throughout the 1950s, 1960s, and later years. In 1991, Lynch and Fusaro described an association between familial multiple mole melanoma and pancreatic cancer and work continues to elucidate the syndrome's genotypic and phenotypic heterogeneity...
July 2016: Familial Cancer
Efthymia Soura, Philip J Eliades, Kristen Shannon, Alexander J Stratigos, Hensin Tsao
Recent advances in cancer genomics have enabled the discovery of many cancer-predisposing genes that are being used to classify new familial melanoma/cancer syndromes. In addition to CDKN2A and CDK4, germline variants in TERT, MITF, and BAP1 have been added to the list of genes harboring melanoma-predisposing mutations. These newer entities may have escaped earlier description in part because of more advanced technologies now being used and in part because of their mixed cancer phenotype as opposed to a melanoma-focused syndrome...
March 2016: Journal of the American Academy of Dermatology
Efthymia Soura, Philip J Eliades, Kristen Shannon, Alexander J Stratigos, Hensin Tsao
Malignant melanoma is considered the most lethal skin cancer if it is not detected and treated during its early stages. About 10% of melanoma patients report a family history of melanoma; however, individuals with features of true hereditary melanoma (ie, unilateral lineage, multigenerational, multiple primary lesions, and early onset of disease) are in fact quite rare. Although many new loci have been implicated in hereditary melanoma, CDKN2A mutations remain the most common. Familial melanoma in the presence of multiple atypical nevi should raise suspicion for a germline CDKN2A mutation...
March 2016: Journal of the American Academy of Dermatology
Lorelei A Mucci, Jacob B Hjelmborg, Jennifer R Harris, Kamila Czene, David J Havelick, Thomas Scheike, Rebecca E Graff, Klaus Holst, Sören Möller, Robert H Unger, Christina McIntosh, Elizabeth Nuttall, Ingunn Brandt, Kathryn L Penney, Mikael Hartman, Peter Kraft, Giovanni Parmigiani, Kaare Christensen, Markku Koskenvuo, Niels V Holm, Kauko Heikkilä, Eero Pukkala, Axel Skytthe, Hans-Olov Adami, Jaakko Kaprio
IMPORTANCE: Estimates of familial cancer risk from population-based studies are essential components of cancer risk prediction. OBJECTIVE: To estimate familial risk and heritability of cancer types in a large twin cohort. DESIGN, SETTING, AND PARTICIPANTS: Prospective study of 80,309 monozygotic and 123,382 same-sex dizygotic twin individuals (N = 203,691) within the population-based registers of Denmark, Finland, Norway, and Sweden. Twins were followed up a median of 32 years between 1943 and 2010...
January 5, 2016: JAMA: the Journal of the American Medical Association
K Petráková, M Palácová, M Schneiderová, M Standara
Population with hereditary breast and ovarian cancer syndrome, i.e. BRCA1/2 mutation carriers, are at higher risk of developing breast and ovarian cancer as well as other solid tumours such as pancreatic cancer, prostate cancer and melanoma. With the increasing experience, screening recommendations and preventive strategies including prophylactic surgery are being settled. Surveillance of women with hereditary breast cancer syndrome comprises clinical breast examination every six months, breast ultrasound and MRI in patients aged 25 to 29 and MRI and mammography in women aged 30 to 65...
2016: Klinická Onkologie: Casopis Ceské a Slovenské Onkologické Spolecnosti
Omar M Rashid, Jonathan S Zager
Melanoma is increasing in incidence and represents an aggressive type of cancer. Efforts have focused on identifying genetic factors in melanoma carcinogenesis to guide prevention, screening, early detection, and targeted therapy. This article reviews the hereditary risk factors associated with melanoma and the known molecular pathways and genetic mutations associated with this disease. This article also explores the controversies associated with genetic testing and the latest advances in identifying genetic targets in melanoma, which offer promise for future application in the multidisciplinary management of melanoma...
October 2015: Surgical Oncology Clinics of North America
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