Current prospects of hereditary adrenal tumors: towards better clinical management
AbstractAdrenocortical carcinoma (ACC) and pheochromocytoma/paraganglioma (PPGL) are two rare types of adrenal gland malignancies. Regarding hereditary tumors, some patients with ACC are associated with with Li-Fraumeni syndrome (LFS), and those with PPGL with multiple endocrine neoplasia type 2. Recent studies have expanded this spectrum to include other types of hereditary tumors, such as Lynch syndrome or familial adenomatous polyposis. Individuals harboring germlineTP53 pathogenic variants that cause LFS have heterogeneous phenotypes depending on the respective variant type. As an example, R337H variant found in Brazil...
Source: Hereditary Cancer in Clinical Practice - March 26, 2024 Category: Cancer & Oncology Source Type: research

Inherited gastrointestinal cancer syndromes
Inherited gastrointestinal (GI) cancer syndromes account for 5 –10% of cancers of the GI tract. Surveillance is tailored to prevent cancer or enable its early detection. Lynch syndrome accounts for 3% of colorectal cancers (CRCs). It is caused by a germline pathogenic variant that affects one of four mismatch repair genes: MLH1, MSH2, MSH6 or PMS2. Individual s with a variant affecting MLH1 have the highest risk of developing CRC. Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome caused by a truncating mutation of the APC gene. (Source: Medicine)
Source: Medicine - March 26, 2024 Category: Internal Medicine Authors: Paul Collins Tags: Colorectal cancer Source Type: research

Risk of metachronous colorectal cancer after surgical resection of index rectal cancer in Lynch syndrome: a multicenter retrospective study in Japan
ConclusionThis is the first report from an East Asian country to report the risk of metachronous CRC after resection of index rectal cancer in patients with LS. Despite this study having several limitations, we cannot recommend extended resection, such as total proctocolectomy, for index rectal cancer as a standard surgical treatment in patients with LS. (Source: Surgery Today)
Source: Surgery Today - March 19, 2024 Category: Surgery Source Type: research

Immune checkpoint blockade induced sarcoid-like reaction mimicking progression of disease in a patient with microsatellite instable colorectal cancer: case report and review of the literature
CONCLUSIONS: This case highlights the propensity of SLRs to imitate progression of disease, and the importance of awareness of this adverse effect, to prompt appropriate investigation and management.PMID:38482249 | PMC:PMC10932687 | DOI:10.21037/jgo-23-435 (Source: Cancer Control)
Source: Cancer Control - March 14, 2024 Category: Cancer & Oncology Authors: Fergus Keane Elizabeth Yogiaveetil Brie Kezlarian Maria Lagratta Neil H Segal Ghassan Abou-Alfa Eileen M O'Reilly Leonard Saltz Imane El Dika Source Type: research

Cascade screening in HBOC and Lynch syndrome: guidelines and procedures in a UK centre
We present time trends (1990 –2020) of identification of index cases with germline CPG variants and numbers of subsequent cascade tests, forBRCA1,BRCA2, and the Lynch genes (MLH1,MSH2,MSH6 andPMS2). ForBRCA1/2 there was a definite increase in the proportion of index cases with ovarian cancer only and pre-symptomatic index tests both doubling from 16 to 32% and 3.2 to  >  8% respectively. A mean of 1.73–1.74 additional family tests were generated for eachBRCA1/2 index case within 2 years. Overall close to one positive cascade test was generated per index case resulting in  >  1000 risk reducing surgery ope...
Source: Familial Cancer - March 13, 2024 Category: Cancer & Oncology Source Type: research

On the Other Side
In this narrative medicine essay, a medical student participating in a study learns she has Lynch syndrome, setting off a cascade of emotions of dread, fear, and some hope in diagnostic plans and future breakthroughs in cancer treatment. (Source: JAMA - Journal of the American Medical Association)
Source: JAMA - Journal of the American Medical Association - March 8, 2024 Category: General Medicine Source Type: research

Adult-onset cancer predisposition syndromes in children and adolescents - to test or not to test?
Clin Cancer Res. 2024 Feb 27. doi: 10.1158/1078-0432.CCR-23-3683. Online ahead of print.ABSTRACTWith the increasing use of comprehensive germline genetic testing of children and adolescents with cancer, it has become evident that pathogenic variants (PVs) in adult-onset cancer predisposition genes (aoCPGs) underlying adult-onset cancer predisposition syndromes (aoCPS) such as Lynch syndrome or hereditary breast and ovarian cancer are enriched and reported in one to two percent of children and adolescents with cancer. However, the causal relationship between PVs in aoCPGs and childhood cancer is still under investigation. T...
Source: Clinical Cancer Research - February 27, 2024 Category: Cancer & Oncology Authors: Christian P Kratz Philip J Lupo Kristin Zelley Jaclyn Schienda Kim E Nichols Douglas R Stewart David Malkin Garrett M Brodeur Kara Maxwell Sharon E Plon Michael F Walsh Source Type: research

Adult-onset cancer predisposition syndromes in children and adolescents - to test or not to test?
Clin Cancer Res. 2024 Feb 27. doi: 10.1158/1078-0432.CCR-23-3683. Online ahead of print.ABSTRACTWith the increasing use of comprehensive germline genetic testing of children and adolescents with cancer, it has become evident that pathogenic variants (PVs) in adult-onset cancer predisposition genes (aoCPGs) underlying adult-onset cancer predisposition syndromes (aoCPS) such as Lynch syndrome or hereditary breast and ovarian cancer are enriched and reported in one to two percent of children and adolescents with cancer. However, the causal relationship between PVs in aoCPGs and childhood cancer is still under investigation. T...
Source: Clinical Breast Cancer - February 27, 2024 Category: Cancer & Oncology Authors: Christian P Kratz Philip J Lupo Kristin Zelley Jaclyn Schienda Kim E Nichols Douglas R Stewart David Malkin Garrett M Brodeur Kara Maxwell Sharon E Plon Michael F Walsh Source Type: research

Adult-onset cancer predisposition syndromes in children and adolescents - to test or not to test?
Clin Cancer Res. 2024 Feb 27. doi: 10.1158/1078-0432.CCR-23-3683. Online ahead of print.ABSTRACTWith the increasing use of comprehensive germline genetic testing of children and adolescents with cancer, it has become evident that pathogenic variants (PVs) in adult-onset cancer predisposition genes (aoCPGs) underlying adult-onset cancer predisposition syndromes (aoCPS) such as Lynch syndrome or hereditary breast and ovarian cancer are enriched and reported in one to two percent of children and adolescents with cancer. However, the causal relationship between PVs in aoCPGs and childhood cancer is still under investigation. T...
Source: Clinical Genitourinary Cancer - February 27, 2024 Category: Cancer & Oncology Authors: Christian P Kratz Philip J Lupo Kristin Zelley Jaclyn Schienda Kim E Nichols Douglas R Stewart David Malkin Garrett M Brodeur Kara Maxwell Sharon E Plon Michael F Walsh Source Type: research

Adult-onset cancer predisposition syndromes in children and adolescents - to test or not to test?
Clin Cancer Res. 2024 Feb 27. doi: 10.1158/1078-0432.CCR-23-3683. Online ahead of print.ABSTRACTWith the increasing use of comprehensive germline genetic testing of children and adolescents with cancer, it has become evident that pathogenic variants (PVs) in adult-onset cancer predisposition genes (aoCPGs) underlying adult-onset cancer predisposition syndromes (aoCPS) such as Lynch syndrome or hereditary breast and ovarian cancer are enriched and reported in one to two percent of children and adolescents with cancer. However, the causal relationship between PVs in aoCPGs and childhood cancer is still under investigation. T...
Source: Clinical Cancer Research - February 27, 2024 Category: Cancer & Oncology Authors: Christian P Kratz Philip J Lupo Kristin Zelley Jaclyn Schienda Kim E Nichols Douglas R Stewart David Malkin Garrett M Brodeur Kara Maxwell Sharon E Plon Michael F Walsh Source Type: research

Adult-onset cancer predisposition syndromes in children and adolescents - to test or not to test?
Clin Cancer Res. 2024 Feb 27. doi: 10.1158/1078-0432.CCR-23-3683. Online ahead of print.ABSTRACTWith the increasing use of comprehensive germline genetic testing of children and adolescents with cancer, it has become evident that pathogenic variants (PVs) in adult-onset cancer predisposition genes (aoCPGs) underlying adult-onset cancer predisposition syndromes (aoCPS) such as Lynch syndrome or hereditary breast and ovarian cancer are enriched and reported in one to two percent of children and adolescents with cancer. However, the causal relationship between PVs in aoCPGs and childhood cancer is still under investigation. T...
Source: Clinical Breast Cancer - February 27, 2024 Category: Cancer & Oncology Authors: Christian P Kratz Philip J Lupo Kristin Zelley Jaclyn Schienda Kim E Nichols Douglas R Stewart David Malkin Garrett M Brodeur Kara Maxwell Sharon E Plon Michael F Walsh Source Type: research

Adult-onset cancer predisposition syndromes in children and adolescents - to test or not to test?
Clin Cancer Res. 2024 Feb 27. doi: 10.1158/1078-0432.CCR-23-3683. Online ahead of print.ABSTRACTWith the increasing use of comprehensive germline genetic testing of children and adolescents with cancer, it has become evident that pathogenic variants (PVs) in adult-onset cancer predisposition genes (aoCPGs) underlying adult-onset cancer predisposition syndromes (aoCPS) such as Lynch syndrome or hereditary breast and ovarian cancer are enriched and reported in one to two percent of children and adolescents with cancer. However, the causal relationship between PVs in aoCPGs and childhood cancer is still under investigation. T...
Source: Clinical Genitourinary Cancer - February 27, 2024 Category: Cancer & Oncology Authors: Christian P Kratz Philip J Lupo Kristin Zelley Jaclyn Schienda Kim E Nichols Douglas R Stewart David Malkin Garrett M Brodeur Kara Maxwell Sharon E Plon Michael F Walsh Source Type: research

Clinicopathological features and prognosis of primary small bowel adenocarcinoma: a large multicenter analysis of the JSCCR database in Japan
ConclusionsOf the patients with PSBA, 76.8% had symptoms at the initial diagnosis, which were often detected at an advanced stage. Detection during the early stages of PSBA is important to ensure a good prognosis. (Source: Journal of Gastroenterology)
Source: Journal of Gastroenterology - February 27, 2024 Category: Gastroenterology Source Type: research

Conversion therapy with pembrolizumab for a peritoneal metastasis of rectal cancer causing hydronephrosis in a patient with Lynch syndrome
Clin J Gastroenterol. 2024 Feb 23. doi: 10.1007/s12328-024-01931-0. Online ahead of print.ABSTRACTA 44-year-old woman with Lynch syndrome was referred to our hospital for treatment of recurrence of microsatellite instability-high rectal cancer. [18F]Fluorodeoxyglucose (18FDG)-positron emission tomography revealed a peritoneal metastasis with invasion to the small intestine and left ureter. The peritoneal metastasis was diagnosed initially as unresectable because of extensive invasion to the left ureter requiring nephrectomy. Hence, first-line treatment with pembrolizumab was started. After the first course of pembrolizumab...
Source: Cancer Control - February 23, 2024 Category: Cancer & Oncology Authors: Akio Matsumoto Yoshifumi Shimada Mae Nakano Hikaru Ozeki Daisuke Yamai Masaki Murata Fumio Ishizaki Hiromi Nyuzuki Takeshi Ikeuchi Toshifumi Wakai Source Type: research