scholarly journals Gastrointestinal Malignancy Presenting with a Virchow’s Node in a Patient with Rothmund-Thomson Syndrome

2018 ◽  
Vol 2018 ◽  
pp. 1-3 ◽  
Author(s):  
Kara Nadeau ◽  
Michele Brule
Keyword(s):  
Skin Cancer ◽  
Hematological Malignancy ◽  
Genetic Disorder ◽  
Duodenal Adenocarcinoma ◽  
Current Management ◽  
Gastrointestinal Malignancy ◽  
Screening Guidelines ◽  
Rothmund Thomson Syndrome ◽  
Virchow’S Node

Rothmund-Thomson syndrome is a genetic disorder with characteristic findings in childhood as well as a predisposition to osteosarcoma, skin cancer, and hematological malignancy. We present the first reported case of duodenal malignancy in a patient with Rothmund-Thompson syndrome. An enlarged Virchow’s node was noted and an advanced duodenal adenocarcinoma was diagnosed shortly thereafter. The features of Rothmund-Thomson syndrome are discussed, as well as current management and screening guidelines for duodenal adenocarcinoma.

scholarly journals Immune checkpoint inhibition therapy for advanced skin cancer in patients with concomitant hematological malignancy: a retrospective multicenter DeCOG study of 84 patients

2020 ◽  
Vol 8 (2) ◽  
pp. e000897 ◽  
Author(s):  
Ulrike Leiter ◽  
Carmen Loquai ◽  
Lydia Reinhardt ◽  
David Rafei-Shamsabadi ◽  
Ralf Gutzmer ◽  
...  
Keyword(s):  
Treatment Outcome ◽  
Skin Cancer ◽  
Cell Carcinoma ◽  
Immune Checkpoint ◽  
Treatment Efficacy ◽  
Hematological Malignancy ◽  
Objective Response ◽  
Therapy Outcome ◽  
Checkpoint Inhibition ◽  
Immune Checkpoint Inhibition

BackgroundSkin cancers are known for their strong immunogenicity, which may contribute to a high treatment efficacy of immune checkpoint inhibition (ICI). However, a considerable proportion of patients with skin cancer is immuno-compromised by concomitant diseases. Due to their previous exclusion from clinical trials, the ICI treatment efficacy is poorly investigated in these patients. The present study analyzed the ICI treatment outcome in advanced patients with skin cancer with a concomitant hematological malignancy.MethodsThis retrospective multicenter study included patients who were treated with ICI for locally advanced or metastatic melanoma (MM), cutaneous squamous cell carcinoma (cSCC), or Merkel cell carcinoma (MCC), and had a previous diagnosis of a hematological malignancy irrespective of disease activity or need of therapy at ICI treatment start. Comparator patient cohorts without concomitant hematological malignancy were extracted from the prospective multicenter skin cancer registry ADOREG. Treatment outcome was measured as best overall response, progression-free (PFS), and overall survival (OS).Results84 patients (MM, n=52; cSCC, n=15; MCC, n=17) with concomitant hematological malignancy were identified at 20 skin cancer centers. The most frequent concomitant hematological malignancies were non-Hodgkin’s lymphoma (n=70), with chronic lymphocytic leukemia (n=32) being the largest entity. While 9 patients received ICI in an adjuvant setting, 75 patients were treated for advanced non-resectable disease (55 anti-PD-1; 8 anti-PD-L1; 5 anti-CTLA-4; 7 combinations). In the latter 75 patients, best objective response (complete response+partial response) was 28.0%, disease stabilization was 25.3%, and 38.6% showed progressive disease (PD). Subdivided by skin cancer entity, best objective response was 31.1% (MM), 26.7% (cSCC), and 18.8% (MCC). Median PFS was 8.4 months (MM), 4.0 months (cSCC), and 5.7 months (MCC). 1-year OS rates were 78.4% (MM), 65.8% (cSCC), and 47.4% (MCC). Comparison with respective ADOREG patient cohorts without hematological malignancy (n=392) revealed no relevant differences in ICI therapy outcome for MM and MCC, but a significantly reduced PFS for cSCC (p=0.002).ConclusionsICI therapy showed efficacy in advanced patients with skin cancer with a concomitant hematological malignancy. Compared with patients without hematological malignancy, the observed ICI therapy outcome was impaired in cSCC, but not in MM or MCC patients.

scholarly journals Skin cancer screening: recommendations for data-driven screening guidelines and a review of the US Preventive Services Task Force controversy

2017 ◽  
Vol 4 (1) ◽  
pp. 13-37 ◽  
Author(s):  
Mariah M Johnson ◽  
Sancy A Leachman ◽  
Lisa G Aspinwall ◽  
Lee D Cranmer ◽  
Clara Curiel-Lewandrowski ◽  
...  
Keyword(s):  
Cancer Screening ◽  
Skin Cancer ◽  
Task Force ◽  
Preventive Services ◽  
Data Driven ◽  
Skin Cancer Screening ◽  
Screening Guidelines ◽  
The Us

scholarly journals Conflicts and Contradictions in Current Skin Cancer Screening Guidelines

2017 ◽  
Vol 6 (4) ◽  
pp. 316-324
Author(s):  
K. Y. Wojcik ◽  
L. A. Escobedo ◽  
K. A. Miller ◽  
M. Hawkins ◽  
O. Ahadiat ◽  
...  
Keyword(s):  
Cancer Screening ◽  
Skin Cancer ◽  
Skin Cancer Screening ◽  
Screening Guidelines

Duodenal neuroendocrine tumor (siNET) and Rothmund-Thomson syndrome: a new association of a rare genetic disorder

2021 ◽  
Author(s):  
Fano Miguel Paja ◽  
L. Martínez-Martínez Adela ◽  
Monzón Andoni ◽  
Rodríguez-Soto Josune ◽  
Ignacio Merlo ◽  
...  
Keyword(s):  
Neuroendocrine Tumor ◽  
Genetic Disorder ◽  
Rare Genetic Disorder ◽  
New Association ◽  
Rothmund Thomson Syndrome

Duodenal neuroendocrine tumor (siNET) and Rothmund-Thomson syndrome: a new association of a rare genetic disorder

2021 ◽  
Author(s):  
Fano Miguel Paja ◽  
L. Martínez-Martínez Adela ◽  
Monzón Andoni ◽  
Rodríguez-Soto Josune ◽  
Ignacio Merlo ◽  
...  
Keyword(s):  
Neuroendocrine Tumor ◽  
Genetic Disorder ◽  
Rare Genetic Disorder ◽  
New Association ◽  
Rothmund Thomson Syndrome

scholarly journals Peutz-Jeghars’ syndrome, a rare genetic disorder: A case report

2020 ◽  
Vol 3 (7) ◽  
Author(s):  
Fabia Hannan Mone ◽  
Kuntal Roy ◽  
Gazi Zahirul Hasan, ◽  
Kaushik Roy ◽  
Qazi Sazib Ahamed, ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Hamartomatous Polyps ◽  
Gastrointestinal Malignancy ◽  
Increased Risk ◽  
Hamartomatous Polyposis Syndromes ◽  
Mucocutaneous Pigmentation ◽  
Dominant Disease ◽  
Polyposis Syndromes ◽  
Peutz Jeghers Syndrome

Abstract: Hamartomatous polyposis syndromes or Peutz-Jeghers syndrome (PJS) is a hereditary autosomal dominant disease characterized by benign hamartomatous polyps and mucocutaneous pigmentation in the digestive tract. It occurs mostly in the small intestine during first decade of life but frequently in the colon and stomach. Only a few cases have been reported in the duodenum1. Polyposis syndromes are common cause of adult intussusceptions, with polyps acting as lead points. Adult intussusceptions are rare and is almost always associated with that lead point2. Although hamartomatous polyps are not pre-malignant, there is an increased risk of gastrointestinal and non-gastrointestinal malignancy, commonly involving the small bowel. Most patients of PJS presents with acute abdomen and diagnosed as intussusceptions, commonly entero-enteric type but colo-colic intussusceptions are rare in Peutz-Jeghers syndrome3. To the best of our knowledge, synchronous colo-colic intussusception association in Peutz-Jeghers syndrome has not been previously reported.

Human Neurofibromas in Co-Culture with Mouse Neurons

1982 ◽  
Vol 40 ◽  
pp. 194-195
Author(s):  
R.L. Martuza ◽  
T. Liszczak ◽  
A. Okun ◽  
T-Y Wang
Keyword(s):  
Schwann Cell ◽  
Schwann Cells ◽  
Genetic Disorder ◽  
Cranial Nerves ◽  
Sympathetic Nerves ◽  
Acoustic Neuromas ◽  
Spinal Roots ◽  
Neural Crest Origin ◽  
Multiple Abnormalities ◽  
Other Neoplasms

Neurofibromatosis (NF) is an autosomal dominant genetic disorder with a prevalence of 1/3,000 births. The NF mutation causes multiple abnormalities of various cells of neural crest origin. Schwann cell tumors (neurofibromas, acoustic neuromas) are the most common feature of neurofibromatosis although meningiomas, gliomas, and other neoplasms may be seen. The schwann cell tumors commonly develop from the schwann cells associated with sensory or sympathetic nerves or their ganglia. Schwann cell tumors on ventral spinal roots or motor cranial nerves are much less common. Since the sensory neuron membrane is known to contain a mitogenic factor for schwann cells, we have postulated that neurofibromatosis may be due to an abnormal interaction between the nerve and the schwann cell and that this interaction may be hormonally modulated. To test this possibility a system has been developed in which an enriched schwannoma cell culture can be obtained and co-cultured with pure neurons.

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