scholarly journals Thyroid, Renal, and Breast Carcinomas, Chondrosarcoma, Colon Adenomas, and Ganglioneuroma: A New Cancer Syndrome, FAP, or Just Coincidence

2016 ◽  
Vol 2016 ◽  
pp. 1-5
Author(s):  
Ihab Shafek Atta ◽  
Fahd Nasser AlQahtani
Keyword(s):  
Malignant Tumors ◽  
Familial Cancer ◽  
Breast Cancers ◽  
Cancer Syndrome ◽  
Colon Adenomas ◽  
Invasive Mammary Carcinoma ◽  
History Of ◽  
Familial Cancer Syndromes ◽  
Cancer Syndromes ◽  
Carcinoma Renal Cell

We are presenting a case associated with papillary thyroid carcinoma, renal cell carcinoma, invasive mammary carcinoma, chondrosarcoma, benign ganglioneuroma, and numerous colon adenomas. The patient had a family history of colon cancer, kidney and bladder cancers, lung cancer, thyroid cancer, leukemia, and throat and mouth cancers. She was diagnosed with colonic villous adenoma at the age of 41 followed by thyroid, renal, and breast cancers and chondrosarcoma at the ages of 48, 64, 71, and 74, respectively. Additionally, we included a table with the most common familial cancer syndromes with one or more benign or malignant tumors diagnosed in our case, namely, FAP, HNPCC, Cowden, Peutz-Jeghers, renal cancer, tuberous sclerosis, VHL, breast/other, breast/ovarian, Carney, Werner’s, Bloom, Li-Fraumeni, xeroderma pigmentosum, ataxia-telangiectasia, osteochondromatosis, retinoblastoma, and MEN2A.

scholarly journals Cancer Risks for Relatives of Children with Cancer

2014 ◽  
Vol 2014 ◽  
pp. 1-4 ◽  
Author(s):  
John A. Heath ◽  
Elizabeth Smibert ◽  
Elizabeth M. Algar ◽  
Gillian S. Dite ◽  
John L. Hopper
Keyword(s):  
Childhood Cancer ◽  
Familial Cancer ◽  
Incidence Rates ◽  
Cancer Syndrome ◽  
Degree Relative ◽  
Cancer History ◽  
First Degree Relatives ◽  
History Of ◽  
Familial Cancer Syndromes ◽  
Gender Specific

We determined the extent and distribution of cancers in relatives of 379 children newly diagnosed with cancer. Family history was collected from 1,337 first-degree and 3,399 second-degree relatives and incidence compared with national age- and gender-specific rates. Overall, 14 children (3.7%) had a relative with a history of childhood cancer and 26 children (6.9%) had a first-degree relative with a history of cancer, with only one of these having an identifiable familial cancer syndrome. There was a higher than expected incidence of childhood cancer among first-degree relatives (parents and siblings) (standardized incidence ratio (SIR) 1.43; 95% CI 0.54–5.08). There was also a higher than expected incidence of adult cancers among first-degree relatives (SIR 1.45; 95% CI 0.93–2.21), particularly in females (SIR 1.82; 95% CI 1.26–3.39). The increased family cancer history in first-degree females was largely attributable to an effect in mothers (SIR 1.78; 95% CI 1.27–3.33). The gender-specific association was reflected in higher than expected incidence rates of breast cancer in both mothers (SIR 1.92; 95% CI 0.72–6.83) and aunts (SIR 1.64; 95% CI 0.98–2.94). These findings support the hypothesis that previously undetected familial cancer syndromes contribute to childhood cancer.

Familial Cancer Syndromes

2008 ◽  
pp. 449-466
Author(s):  
Michelle P. Elieff ◽  
Antonio Lopez-Beltran ◽  
Rodolfo Montironi ◽  
Liang Cheng
Keyword(s):  
Familial Cancer ◽  
Familial Cancer Syndromes ◽  
Cancer Syndromes

Familial cancer syndromes and genetic counselling

2016 ◽  
pp. 276-290
Author(s):  
Henry T. Lynch ◽  
Carrie L. Snyder ◽  
Jane F. Lynch
Keyword(s):  
Colorectal Cancer ◽  
Molecular Genetics ◽  
Genetic Counselling ◽  
Hereditary Cancer ◽  
Genetic Model ◽  
Familial Cancer ◽  
Hereditary Cancer Syndromes ◽  
Clinical Genetic ◽  
Familial Cancer Syndromes ◽  
Cancer Syndromes

Thanks to the veritably logarithmic advances in the molecular genetics of many emerging hereditary cancer syndromes, genetic counselling has become of paramount importance. It is a key element of the emerging concepts for patient education and management, which have become the clinical bedrock for diagnosis and management of hereditary cancer. Genetic counsellors have become proficient in the understanding of the complexities of molecular genetics in relation to hereditary cancer syndromes, demonstrating their ability both to supplement and replace the customary physician’s role in this overall process. We have used colorectal cancer, in particular Lynch syndrome, as a clinical genetic model based on the authors’ experience with diagnosis, DNA testing, and counselling of thousands of families for over four decades. Undoubtedly, the surface of the proverbial iceberg has barely been grazed in regard to the developments for the genetic counseling discipline.

Genetics

2019 ◽  
pp. 341-348
Keyword(s):  
Birth Defects ◽  
Trisomy 21 ◽  
Chromosomal Abnormalities ◽  
Familial Cancer ◽  
Single Gene ◽  
Medical Specialty ◽  
Clinical Genetics ◽  
Single Gene Disorders ◽  
Familial Cancer Syndromes ◽  
Cancer Syndromes

Clinical genetics is the medical specialty that deals with diagnosis and counselling of patients affected (or potentially affected) with disease that may have a genetic basis. These conditions include chromosomal abnormalities (e.g. Down’s syndrome/trisomy 21), single gene disorders (e.g. cystic fibrosis), familial cancer syndromes (e.g. hereditary non-polyposis colorectal cancer), and birth defects with a genetic component (e.g. cleft palate). The service is largely consultant led, supported by genetic counsellors in tertiary referral centres. Different inheritance patterns are described, autosomal dominant, autosomal recessive, X-linked, and mitochondrial, as well as the range of different genetic tests currently in clinical use (karyotype, microarray, gene panel, exome sequencing, and genome studies). The importance of empathetic communication, a detailed family history, and a multidisciplinary approach are emphasized.

scholarly journals Surveillance of Individuals with a Family History of Pancreatic Cancer and Inherited Cancer Syndromes: A Strategy for Detecting Early Pancreatic Cancers

Diagnostics ◽  
2019 ◽  
Vol 9 (4) ◽  
pp. 169
Author(s):  
Matsubayashi ◽  
Kiyozumi ◽  
Ishiwatari ◽  
Uesaka ◽  
Kikuyama ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
Family History ◽  
Early Stage ◽  
Developed Countries ◽  
Familial Pancreatic Cancer ◽  
Cancer Syndrome ◽  
Inherited Cancer ◽  
Clinicopathological Findings ◽  
History Of ◽  
Cancer Syndromes

A family history of pancreatic cancer (PC) is a risk factor of PC, and risk levels increase as affected families grow in number and/or develop PC at younger ages. Familial pancreatic cancer (FPC) is defined as a client having at least two PC cases in a first degree relatives. In the narrow sense, FPC does not include some inherited cancer syndromes that are known to increase the risks of PC, such as Peutz–Jeghers syndrome (PJS), hereditary pancreatitis (HP), hereditary breast ovarian cancer syndrome (HBOC), and so on. FPC accounts for 5%–10% of total PC diagnoses and is marked by several features in genetic, epidemiological, and clinicopathological findings that are similar to or distinct from conventional PC. Recent advances in genetic medicine have led to an increased ability to identify germline variants of cancer-associated genes. To date, high-risk individuals (HRIs) in many developed countries, including FPC kindreds and inherited cancer syndromes, are screened clinically to detect and treat early-stage PC. This article highlights the concept of FPC and the most recent data on its detection.

Familial cancer syndromes

The Lancet ◽  
1994 ◽  
Vol 343 (8899) ◽  
pp. 709-713 ◽  
Author(s):  
C Eng ◽  
B Ponder ◽  
V Murday ◽  
D Easton ◽  
M Stratton ◽  
...  
Keyword(s):  
Familial Cancer ◽  
Familial Cancer Syndromes ◽  
Cancer Syndromes

Paragangliomas of the urinary bladder: Experience at the National Cancer Institute.

2013 ◽  
Vol 31 (6_suppl) ◽  
pp. 307-307
Author(s):  
Michael Weintraub ◽  
Minhaj Siddiqui ◽  
Srinivas Vourganti ◽  
Brian Shuch ◽  
Piyush Agarwal ◽  
...  
Keyword(s):  
Radical Cystectomy ◽  
Familial Cancer ◽  
Laboratory Data ◽  
Clinical Manifestations ◽  
Urologic Oncology ◽  
Von Hippel Lindau ◽  
Clinical Center ◽  
Sporadic Cases ◽  
Familial Cancer Syndromes ◽  
Cancer Syndromes

307 Background: Bladder paragangliomas (BP, also referred to as bladder pheochromocytomas) represent 0.06% of bladder tumors. They occur both sporadically and with familial cancer syndromes such as von Hippel-Lindau (VHL) or Succinate Dehydrogenase-B (SDH-B) deficiency. Here we describe the clinical manifestations and management of BP at our institution. Methods: A retrospective review was performed of all cases of BP treated by the Urologic Oncology Branch at the National Institutes of Health (NIH) Clinical Center from 1989 – 2012. Using an approved database, we reviewed the demographics, radiologic, pathologic, laboratory data, surgical approach, and clinical outcome of patients with BP. Results: A total of 7 patients were treated for BP. Five were part of familial syndromes (3 with VHL, 2 with SDH-B deficiency, mean tumor volume (TV): 4cc), while 2 were sporadic cases (mean TV: 43cc). There was no significant age or gender difference in sporadic versus familial patients. 6 of the 7 patients presented with at least two of the three classic symptoms of headache, palpitations, and diaphoresis. 3 patients had micturition-related symptoms. For diagnosis, urine and plasma normetanephrines and urine norephinephrine showed the greatest sensitivity (0.75, 0.75, and 0.8, respectively). MRI was performed in all patients and had a sensitivity of 100% for detection of the mass. MIBG scan was also 100% sensitive, but was only performed in 3 of the 7 patients. CT missed the lesion in one patient. 3 patients were treated with TURBT (mean TV: 2.2cc), 2 underwent partial cystectomies (mean TV: 11.6cc), and one had a radical cystectomy (TV: 63cc). 2 patients had metastatic disease detected 7 and 9 years after initial treatment. No difference was seen in outcome based on the treatment modality. Conclusions: BP in familial and sporadic cases present with similar characteristics except for size. BP is best detected with catecholamines and MIBG/MRI. Surgical management is largely dictated by the extent of disease and includes TURBT, partial, and radical cystectomy. Long-term monitoring is recommended as distant recurrences can occur.

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