Mutation analysis of STK11 gene in patients with Peutz-Jeghers syndrome / 中华皮肤科杂志

Objective To study the mutation of STK11 gene in a Chinese family and a sporadic patient with Peutz-Jeghers syndrome (PJS),and to provide a basis for genetic diagnosis and counseling.Methods One sporadic patient and two patients from a family with PJS were collected,all of whom had typical mucosal pigmentation and gastrointestinal polyposis.Blood samples were obtained from the two patients and six unaffected relatives in this family,the sporadic patient,and 100 healthy controls.DNA was extracted,and PCR was performed to amplify nine exons and their adjacent introns in the STK11 gene followed by direct sequencing.The sequencing results were aligned to the published sequence of STK11 gene from Genbank.Results No mutation was found in the STK11 gene of any of the patients,unaffected relatives,or healthy controls.Conclusions Genetic heterogeneity exists in Peutz-Jeghers syndrome,hinting that there may be other causative genes or sites for this entity.

Sequence analysis of STK11 gene in a patient with Peutz-Jeghers syndrome / 中华皮肤科杂志

Objective To analyze the STK11 gene mutation in a sporadic Chinese Datient with Peutz Jeghers syndrome(PJS)so as to provide a basis for the genetic diagnosis and counseling of PJS.Methods Whole blood samples were obtained from a female patient with PJS,her parents and sister.as well as from 100 unrelated,normal individuals as control.Genomic DNA was extracted,and the whole coding region of STK11 gene was amplified by PCR followed by direct sequencing.Results Molecular analysis revealed a novel het-erozygous mutation C73S in the patient,which resulted from the substitution of thymine(T)for adenine(A) at codon 217 in exon 1 of STK11 gene.However, the novel mutation was not found in unaffected family mem-bers or unrelated controls.Conclusion A novel missense mutation C73S,which may contribute to the devel-opment of PJS,is found in the patient.

Peutz-Jeghers syndrome: a new understanding

Peutz-Jeghers syndrome is an autosomal dominant inherited disorder characterized by hamartomatous polyps in the small bowel and mucocutaneous pigmentation. Patients with Peutz-Jeghers syndrome often present as surgical emergencies with complications of the polyps, such as intussusception, bowel obstruction and bleeding. Furthermore, repeated operations may be needed in some patients, which may result in short bowel syndrome. Although early reports did not demonstrate a predisposition to cancer in patients with this syndrome, more recent studies have described an increased risk for both gastrointestinal and extra-gastrointestinal cancers. Women with the Peutz-Jeghers syndrome have the extremely high risk for breast and gynecologic cancer. Recently, Peutz-Jeghers syndrome susceptibility gene, encoding the serine threonine kinase STK11 (also called LKB1), was identified in families with Peutz-Jeghers syndrome. The identifications of germline mutations in families with Peutz-Jeghers syndrome could be a turning point in the management of Peutz-Jeghers syndrome.

Advances in the research on the STK11 gene / 中国癌症杂志

STK11 gene is a recently found tumor suppressor gene. It maps 19p13.3. This gene can express a kind of serine threonine kinases. STK11 gene plays an important role in the regulation of cell cycle progression, and it may relate to cell apoptosis. However, until now the mechanisms of STK11 gene is not very clear and progress in the research of this new tumor suppressor gene is sitll needed.