Childhood adrenocortical carcinoma as a sentinel cancer for detecting families with germline <i>TP53</i> mutations

Choong, Soo Sin; Latiff, Zarina Abdul; Mohamed, M Basha; Lim, L.L.; Chen, Kok‐Siong; Vengidasan, Lelamekala; Razali, H.; Rahman, Eni Juraidah Abdul; Ariffin, Hany

doi:10.1111/j.1399-0004.2012.01841.x

Cited by 19 publications

(9 citation statements)

References 17 publications

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“…Most ACCs in childhood are sporadic, but they can be a manifestation of Beckwith–Wiedemann and Li–Fraumeni syndromes. There is therefore a need to consider paediatric ACC as a useful sentinel cancer for initiating a germline TP53 detection programme.…”

Section: Adrenocortical Carcinoma In Children – a Different Disease?mentioning

confidence: 99%

Diagnosis, treatment and outcome of adrenocortical cancer

Mihai

2015

British Journal of Surgery

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Background: Adrenocortical cancer (ACC) is a rare disease with a dismal prognosis. The majority of patients are diagnosed with advanced disease and raise difficult management challenges.Methods: All references identified in PubMed, published between 2004 and 2014, using the keywords 'adrenocortical cancer' or 'adrenal surgery' or both, were uploaded into a database. The database was interrogated using keywords specific for each field studied.Results: In all, 2049 publications were identified. There is ongoing debate about the feasibility and oncological outcomes of laparoscopic adrenalectomy for small ACCs, and data derived from institutional case series have failed to provide an evidence level above expert opinion. The use of mitotane (1-(2-chlorophenyl)-1-(4-chlorophenyl)-2,2-dichloroethane) in combination with chemotherapy in the treatment of metastatic disease has been assessed in an international randomized trial (FIRM-ACT trial) involving patients with ACC. Based on this trial, mitotane plus etoposide, doxorubicin and cisplatin is now the established first-line cytotoxic therapy owing to a higher response rate and longer median progression-free survival than achieved with streptozocin-mitotane. For patients with tumours smaller than 5 cm and with no signs of lymph node or distant metastases, survival is favourable with a median exceeding 10 years. However, the overall 5-year survival rate for all patients with ACC is only 30 per cent. Conclusion:Open and potentially laparoscopic adrenalectomy for selected patients is the main treatment for non-metastatic ACC, but the overall 5-year survival rate remains low.Cutting edge articles are invited by the BJS Editorial Team, and focus on how current research and innovation will affect future clinical practice.

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Section: Adrenocortical Carcinoma In Children – a Different Disease?mentioning

confidence: 99%

Diagnosis, treatment and outcome of adrenocortical cancer

Mihai

2015

British Journal of Surgery

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“…Although the proportion attributable to syndromes has rarely been precisely quantified for common childhood cancers the estimate is typically 5-10%. For especially rare cancers, such as pediatric adrenocortical carcinoma, the proportion can be much higher (56). Specific syndromes predisposing to particular childhood cancers are covered elsewhere in this issue.…”

Section: Introductionmentioning

confidence: 99%

Genetic and Nongenetic Risk Factors for Childhood Cancer

Spector

Pankratz

Marcotte

2015

Pediatric Clinics of North America

160

169

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Summary The causes of childhood cancer have been systematically studied for several decades, but apart from high-dose radiation and prior chemotherapy there are few or no strong external risk factors. On the other hand, inherent risk factors including birth weight, parental age, and congenital anomalies are consistently associated with most types of pediatric cancer. Rare, highly-penetrant syndromes have long been known to cause a small proportion of cancers but recently the contribution of common genetic variation to etiology has come into focus through genome wide association studies. These have highlighted genes not previously implicated in childhood cancers and, surprisingly, have suggested that common variation explains a larger proportion of childhood cancers than adult. Rare variation and non-Mendelian inheritance, such as through maternal genetic effects or de novo germline mutations, may also contribute to childhood cancer risk but have not been widely examined to date.

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“…Li-Fraumeni syndrome is associated with mutations in the CHEK2 and TP53 genes; more than 50% of families with Li-Fraumeni syndrome have inherited TP53 gene mutations. [ 11 ] Chemotherapy and radiotherapy are also carcinogenic. [ 12 , 13 ] Chemotherapy drugs, particularly alkylating agents, can damage dividing cells in normal tissues, such as the bone marrow and gastrointestinal mucosal cells, by affecting DNA synthesis and function.…”

Section: Discussion and Literature Reviewmentioning

confidence: 99%

Three primary synchronous malignancies of the uterus, cervix, and fallopian tube

Song

Yang

et al. 2018

Medicine

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Rationale:Multiple primary malignancies can occur in the same organ or in multiple organs or systems. Likewise, they can occur simultaneously or successively. Based on the timing of the diagnosis, they are classified as multiple synchronous (i.e., concurrent) or metachronous (i.e., successive) primary malignancies. The vast majority of patients have multiple metachronous malignant tumors; multiple synchronous tumors are rare.Patient concerns:A 63-year-old woman presented with the chief complaint of vaginal fluid discharge for 3 months and abdominal pain for 1 month.Diagnoses:The patient was diagnosed with multiple synchronous primary malignancies: 1) endometrial poorly differentiated serous adenocarcinoma, stage IV; 2) poorly differentiated squamous cell carcinoma of the cervix, stage IB1; and 3) left-sided fallopian tube carcinoma in situ.Interventions:After total abdominal hysterectomy, bilateral salpingo-oophorectomy, and comprehensive staging and debulking, the patient was administered eight courses of adjuvant chemotherapy (taxane carboplatin/taxane cisplatin).Outcomes:After chemotherapy completion, the patient has been undergoing regular follow-up examinations; no recurrence has been noted at 18 months.Lessons:It is important to distinguish between multiple synchronous primary malignancies and metastasis of a primary tumor to select the appropriate treatment regimen and to adequately assess the patient's prognosis. When a cancer patient shows clinical manifestations of another tumor, not only metastasis but also the possibility of multiple synchronous primary malignant tumors should be considered. The duration of follow-up in patients with malignant tumors should be extended as much as possible, as the timely detection and treatment of other primary malignant tumors can prolong survival and improve the quality of life.

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Childhood adrenocortical carcinoma as a sentinel cancer for detecting families with germline TP53 mutations

Cited by 19 publications

References 17 publications

Diagnosis, treatment and outcome of adrenocortical cancer

Diagnosis, treatment and outcome of adrenocortical cancer

Genetic and Nongenetic Risk Factors for Childhood Cancer

Three primary synchronous malignancies of the uterus, cervix, and fallopian tube

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