Asymptomatic Gastric Giant Polyp in a Boy with Peutz-Jeghers Syndrome Presented with Multiple Café Au Lait Traits

Plataras, Christos; Christianakis, Efstratios; Fostira, Florentia; Bourikis, George; Chorti, Maria; Bourikas, Dimitrios; Fotopoulos, Nikolaos; Damalas, Konstantinos; Eirekat, Khalil

doi:10.1155/2018/6895974

Cited by 2 publications

(1 citation statement)

References 8 publications

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“…Germline mutations of STK11/LKB1 are observed in more than half of PJS patients. However, the somatic development of PJS in patients with no familial medical history and cases without a mutation in STK11/LKB1 have also been described [61][62][63] .…”

Section: Stk11/lkb1 and Pjsmentioning

confidence: 99%

Role of the Serine/Threonine Kinase 11 (STK11) or Liver Kinase B1 (LKB1) Gene in Peutz-Jeghers Syndrome

Altamish

Dahiya

Singh

et al. 2020

Crit Rev Eukaryot Gene Expr

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Peutz-Jeghers syndrome (PJS) is a well-described inherited syndrome, characterized by the development of gastrointestinal polyps, and characteristic mucocutaneous freckling. PJS, an autosomal prevailing disease due to genetic mutation on chromosome 19p, manifested by restricted mucocutaneous melanosis in association with gastrointestinal (GI) polyposis. The gene for PJS has recently been shown to be a serine/threonine kinase, known as LKB1 or STK11, which maps to chromosome subband 19p13.3. This gene has a putative coding region of 1302 bp, divided into nine exons, and acts as a tumour suppressor in the hamartomatous polyps of PJS patients and in the other neoplasms which develop in PJS patients. It is probable that these neoplasms develop from hamartomas, but remains possible that the LKB1 or STK11 locus plays a role in a different genetic pathway of tumour growth in the cancers of PJS patients. This article has focused on role of LKB1 or STK11 gene expression in PJS and related cancers.

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Section: Stk11/lkb1 and Pjsmentioning

confidence: 99%

Role of the Serine/Threonine Kinase 11 (STK11) or Liver Kinase B1 (LKB1) Gene in Peutz-Jeghers Syndrome

Altamish

Dahiya

Singh

et al. 2020

Crit Rev Eukaryot Gene Expr

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Cafe-au-lait spots as a clinical sign of syndromes

Carvalho

Martelli

Carvalho³

et al. 2021

RSD

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Several studies describe the frequent association of cafe-au-lait spots with neurofibromatosis. However, many other genetic diseases might be associated with the presence of café-au-lait spots. Several genetic diseases are rare. In most cases, syndromes present themselves as a set of signs and symptoms that may present varied penetrance, therefore largely reducing the percentage of final diagnosis. Exploration of clinical symptomatology is essential for the understanding and diagnosis of syndromes. In this review, we conduct an extensive literature search looking for research that investigated diseases that may be present simultaneously with the cafe-au-lait spots. A total of 60 genetic diseases were found, all of them rare. These syndromes were evaluated based on their most relevant features and described in a summary of the typical, general, and head and neck findings. The available OMIM number, mode of inheritance, chromosome, mutated genes, and affected proteins were also listed. The considerable variety of diseases associated with the presence of cafe-au-lait spots and the fact that many of these conditions affect various organ systems with diverse phenotypic presentations is a diagnostic and therapeutic challenge. The objective of this study was to provide health professionals with an instrument containing a broad spectrum of genetic diseases coincident with the presence of cafe-au-lait spots in order to facilitate the differential and final diagnosis of these syndromes.

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Asymptomatic Gastric Giant Polyp in a Boy with Peutz-Jeghers Syndrome Presented with Multiple Café Au Lait Traits

Cited by 2 publications

References 8 publications

Role of the Serine/Threonine Kinase 11 (STK11) or Liver Kinase B1 (LKB1) Gene in Peutz-Jeghers Syndrome

Role of the Serine/Threonine Kinase 11 (STK11) or Liver Kinase B1 (LKB1) Gene in Peutz-Jeghers Syndrome

Cafe-au-lait spots as a clinical sign of syndromes

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