Atypical pulmonary carcinoid tumour in a 28-year-old nonsmoker with Prader–Willi syndrome: Figure 1–

Nenekidis, Ioannis; Stathopoulos, Georgios T.; Anagnostakou, Vania; Kokkori, A.; Dedeilias, Panagiotis; Kokotsakis, John; Argiriou, Mihalis; Zisis, Ch.

doi:10.1183/09031936.00034711

Cited by 13 publications

(8 citation statements)

References 11 publications

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“…Targeted studies are needed to assess the real risk of lung cancer in persons with ID. Various histological types have been reported: adenocarcinoma [ 14 ], small cell carcinoma [ 15 ], carcinoid [ 16 ], synovial sarcoma [ 17 ], and lymphoma of the lung [ 18 ].…”

Section: Resultsmentioning

confidence: 99%

“…In particular, because many people with ID communicate pain and unease in unconventional ways that may not be readily understood or may not appear to express pain at all, a tumor may remain undiagnosed for some time. Among eight available reports with clinical history, two bronchial carcinomas were discovered on routine chest radiographs before a surgical procedure for another disease [ 14 , 16 ]. One of these patient complained of minor chest pain despite bilateral spread of the tumor, but his family did not believe it was a serious problem.…”

Section: Resultsmentioning

confidence: 99%

“…In a fifth patient, ifosfamide was discarded since he had a history of seizures [ 17 ]. Nonetheless, two patients were successfully treated using bilobectomy for a stage I and a stage IIB carcinoid tumor, illustrating the potential to cure a patient with ID [ 16 , 43 ]. The provision of palliative care to persons with ID is a fundamental point but is beyond the scope of this article.…”

Section: Resultsmentioning

confidence: 99%

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Challenges in Diagnosis and Treatment of Lung Cancer in People with Intellectual Disabilities: Current State of Knowledge

Satgé¹,

Kempf

Dubois³

et al. 2016

Lung Cancer International

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As the life expectancy of people with intellectual disability (ID) has progressed, they have become similarly at risk of cancer as individuals of the general population. Epidemiological studies indicate a reduced incidence and mortality from lung cancer in the total population of persons with ID. However, the pattern is heterogeneous and the risk is strongly correlated with the impairment level; persons with mild intellectual impairment have higher cancer risk, and this subgroup also has the highest tobacco consumption (the major risk factor for lung cancer) compared to individuals with more severe impairment. Clinical presentation of lung cancer in persons with ID is often atypical, with symptoms frequently hidden by the mental state and communication impairments. Treatment can be impeded by incomplete understanding and lack of cooperation on the part of the patient; nevertheless, general principles for treating lung cancer must be applied to persons with ID. Early diagnosis and implementation of an adapted treatment plan may result in lung cancer outcomes similar to those of individuals in the general population. Physicians facing the difficult task of treating lung cancer in persons with ID are called to carry out their mission of care in a responsible, free, and creative way.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

See 1 more Smart Citation

Challenges in Diagnosis and Treatment of Lung Cancer in People with Intellectual Disabilities: Current State of Knowledge

Satgé¹,

Kempf

Dubois³

et al. 2016

Lung Cancer International

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show abstract

“…Ectopic secretion of biologically active hormones is not uncommon, in particular corticotrophin and growth hormone and it occurs in fewer of 5% of patients with these tumors. Conversely, atypical carcinoids represent an intermediate grade neuroendocrine tumors; they may exhibit increased nuclear atypia, focal necrosis or high mitotic indices and their clinical course is aggressive with an high incidence of mediastinal lymph node metastases and a 5-year survival rate of 40-75% [7].…”

Section: Pathological Findingsmentioning

confidence: 99%

A rare ectopic ACTH secreting atypical pulmonary carcinoid- case report

Jain

Gidwani

2020

Trop J Pathol Microbiol

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Pulmonary carcinoids are rare pulmonary neoplasms which account for 1-2% of all lung neoplasms. Pulmonary carcinoid tumors are a rare cause of ectopic ACTH secretion. The incidence of Cushing's syndrome in pulmonary carcinoid tumor is approximately 1%. A case of 25-year-old young male with typical cushingoid appearance presented with headache on and off and episodes of hypertension since 1year.Thoracic CT revealed a nodular region in left lower lobe. The patient underwent left lower lobectomy and histopathology revealed an atypical carcinoid tumor. On immunohistochemistry, tumor cells were positive for CK PAN9, CD117, S100, TTF-1, synaptophysin, chromogranin and negative for P40, CK7, Her-2 and CD99.This case is presented for its rarity.

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“…Interestingly, mitochondrial dysfunction was found in an imprinting center deletion mouse model of PWS, suggesting that an altered mitochondrial activity may contribute to the PWS pathogenesis [ 96 ]. Prader-Willi syndrome is not a cancer-prone disease; however, in recent years cases of early-onset cancer have been reported in PWS patients, probably due to the increased life expectancy, raising the question whether PWS predisposes to cancer development [ 97 ]. Indeed, there is evidence of a potential role of genomic imprinting and DNA methylation in human cancer [ 98 , 99 ].…”

Section: Oxidative Stress and Beckwith-wiedemann Costello And Prmentioning

confidence: 99%

Oxidative Stress in Cancer‐Prone Genetic Diseases in Pediatric Age: The Role of Mitochondrial Dysfunction

Perrone

Lotti

Geronzi

et al. 2016

Oxidative Medicine and Cellular Longevity

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Oxidative stress is a distinctive sign in several genetic disorders characterized by cancer predisposition, such as Ataxia-Telangiectasia, Fanconi Anemia, Down syndrome, progeroid syndromes, Beckwith-Wiedemann syndrome, and Costello syndrome. Recent literature unveiled new molecular mechanisms linking oxidative stress to the pathogenesis of these conditions, with particular regard to mitochondrial dysfunction. Since mitochondria are one of the major sites of ROS production as well as one of the major targets of their action, this dysfunction is thought to be the cause of the prooxidant status. Deeper insight of the pathogenesis of the syndromes raises the possibility to identify new possible therapeutic targets. In particular, the use of mitochondrial-targeted agents seems to be an appropriate clinical strategy in order to improve the quality of life and the life span of the patients.

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Atypical pulmonary carcinoid tumour in a 28-year-old nonsmoker with Prader–Willi syndrome: Figure 1–

Cited by 13 publications

References 11 publications

Challenges in Diagnosis and Treatment of Lung Cancer in People with Intellectual Disabilities: Current State of Knowledge

Challenges in Diagnosis and Treatment of Lung Cancer in People with Intellectual Disabilities: Current State of Knowledge

A rare ectopic ACTH secreting atypical pulmonary carcinoid- case report

Oxidative Stress in Cancer‐Prone Genetic Diseases in Pediatric Age: The Role of Mitochondrial Dysfunction

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