Germline mutation in the STK11 gene in a girl with an ovarian Sertoli cell tumour

Massa, Guy; Roggen, Nele; Renard, Marleen

doi:10.1007/s00431-006-0352-4

Cited by 12 publications

(10 citation statements)

References 8 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Sertoli cell tumours, particularly the lipid-rich and oxyphilic subtypes, have been described in children and young women with PJS 47. In the series of Oliva and colleagues, 6/54 patients with Sertoli cell tumours were reported to have PJS, of which lipid-rich and oxyphilic subtypes were predominant 44.…”

Section: Sex Cord-stromal Tumours (Scst)mentioning

confidence: 99%

Paediatric ovarian tumours and their associated cancer susceptibility syndromes

et al. 2017

View full text Add to dashboard Cite

Non-epithelial ovarian tumours are rare neoplasms that occasionally arise in childhood and adolescence. They can be associated with various cancer susceptibility syndromes. The morphological overlap seen across these tumours and their rarity can make the diagnosis challenging. In the case of an incorrect diagnosis, the underlying genetic susceptibility may be missed. In this review, we outline the genetic background of ovarian non-epithelial tumours arising in children, emphasizing the genes harbouring pathogenic germline variants associated with each tumour type. Specifically, juvenile granulosa cell tumours, Sertoli-Leydig cell tumours, sex cord tumours with annular tubules, Sertoli cell tumours, germ cell tumours and small cell carcinoma of the ovary of hypercalcaemic type are discussed in this review. For each tumour type, we detail the personal and family history features and the presenting characteristics of the ovarian tumour as well as the pathological features and molecular markers that point towards a cancer predisposition syndrome. Throughout, we stress the need for specialised pathological review in difficult cases.

show abstract

Section: Sex Cord-stromal Tumours (Scst)mentioning

confidence: 99%

Paediatric ovarian tumours and their associated cancer susceptibility syndromes

et al. 2017

View full text Add to dashboard Cite

show abstract

“…Among recorded PJS cases, more than 30% of them develop polyp-related manifestations by age 10 years and 50% by 20 years [2]. In children with PJS, intussusception due to GI polyps is the most critical symptom, while in adults, the dominant threaten are PJS-associated tumors [3]. van Lier et al [4] described cumulative intussusception risk in PJS of 15% by age 10 years and 50% by age 20 years.…”

Section: Introductionmentioning

confidence: 99%

Early screening the small bowel is key to protect Peutz-Jeghers syndrome patients from surgery: a novel mutation c.243delG in STK11 gene

Jiang

Zhao

Li³

et al. 2019

BMC Gastroenterol

View full text Add to dashboard Cite

Background Peutz-Jeghers syndrome (PJS) is a Mendelian disease, whose causative gene is STK11 , mainly characterized by gastrointestinal polyposis and increased cancer risk. Clinical observation reveals intussusception in childhood are more frequent and severe than in adults, and it is difficult to prevent this knotty complication. Case presentation A boy without a positive family history grew oral MP after birth and developed abdominal pain and bloody stood at 7 years old. Endoscopy revealed multiple polyps within the colon and the ileum, and endoscopic polypectomy and regular surveillance protected him from severe complications and open surgeries. A heterozygous deletion in STK11 , c.243delG, was detected in the proband but not in his parents. This mutation has not been documented in databases. Conclusions We suspect a child of PJS may need a more thorough endoscopic examination including enteroscopy or capsule endoscopy to take care of small bowel when PJS related symptoms comes up.

show abstract

“…Among reported cases of PJS, more than 30% of them develop polyp-related symptoms by age 10 years and 50% by 20 years [ 2 ]. In children with PJS, intussusception due to GI polyps is the most important symptom, while PJS-associated tumors are primary in adults [ 3 ]. van Lier et al[ 4 ] reported cumulative intussusception risk in PJS of 15% by age 10 years and 50% by age 20.…”

Section: Introductionmentioning

confidence: 99%

Close and regular surveillance is key to prevent severe complications for Peutz-Jeghers syndrome patients without gastrointestinal polyps: case report of a novel STK11 mutation (c.471_472delCT) in a Chinese girl

Zhao

Jiang

et al. 2018

BMC Surg

View full text Add to dashboard Cite

BackgroundPeutz-Jeghers syndrome (PJS) is a Mendelian disease characterized by gastrointestinal hamartomas, mucocutaneous pigmentation (MP), and increased cancer risk. Serine/threonine kinase 11 (STK11) is the only validated causative gene in PJS. Clinical observation reveals MP and intussusception in childhood are more frequent and severe than in adults.Case presentationWe report here a girl without a positive family history, who grew oral and fingertip MP at her age of 2 and got abdomen dull pain from 7 years old. Endoscopy revealed no obvious polyps in the stomach or the colon until 10 years old, when she received enteroscopy. Tens of polyps were resected during enteroscopy, and pathological examination confirmed them hamartomas. A heterozygous deletion in STK11, c.471_472delCT, was detected in the proband but not in her parents, which is not recorded in databases.ConclusionThe mutation we reported here is a novel one and a de-novo one, so our results enlarge the spectrum of STK11. We speculate close and regular endoscopy especially enteroscopy is necessary for complication prevention when the former endoscopy discovers no polyps temporarily in a child of suspect PJS.

show abstract

Germline mutation in the STK11 gene in a girl with an ovarian Sertoli cell tumour

Abstract: This is the first report of a STK11 germline mutation in a girl with an ovarian Sertoli cell tumour. It remains to be shown whether this particular mutation predisposes the patient to the development of ovarian tumours.

Cited by 12 publications

References 8 publications

Paediatric ovarian tumours and their associated cancer susceptibility syndromes

Paediatric ovarian tumours and their associated cancer susceptibility syndromes

Early screening the small bowel is key to protect Peutz-Jeghers syndrome patients from surgery: a novel mutation c.243delG in STK11 gene

Close and regular surveillance is key to prevent severe complications for Peutz-Jeghers syndrome patients without gastrointestinal polyps: case report of a novel STK11 mutation (c.471_472delCT) in a Chinese girl

Contact Info

Product

Resources

About