Clinco-pathologic Features of Alopecia in a Patient of Cronkhite-Canada Syndrome / 대한피부과학회지

Although hair loss in Cronkhite-Canada syndrome (CCS) developed frequently, its exact mechanism has not been elucidated. Thus, we attempted to investigate the histopathologic features of hair loss with scalp biopsy in one case of CSS. The patient complained of persistent diarrhea and diffuse hair loss of the scalp 1 month prior to the hospital visit. CCS has been already diagnosed through colonoscopy and medical examination. Scalp biopsy was performed to evaluate hair loss of the patient, and pathologic examination showed increased telogen hairs (anagen to telogen is 7:8) without specific dermal inflammation and miniaturization of hair follicles. The patient was treated with topical and systemic steroids, and hair loss has almost completely recovered in 5 months. In this case, we investigated the clinical and pathological features of hair loss through scalp biopsy in one case of CCS and reported them with a review of the literature.

Síndrome de Peutz-Jeghers como causa de invaginación intestinal en niño / Peutz-Jeghers syndrome as a cause of intestinal intussusception in children

La invaginación intestinal se presenta con mayor frecuencia en el lactante menor de 2 años, con un pico entre los 5 y 9 meses de edad. En la gran mayoría de los casos es idiopática o de causa desconocida, probablemente secundaria a una infección viral que provoca un crecimiento del tejido linfático intestinal. Sólo en un 2-8% de los pacientes se demuestra una alteración anatómica como causa de la intususcepción (divertículo de Meckel, pólipo). Es la llamada invaginación intestinal secundaria, que suele presentarse en los menores de 3 meses o mayores de 3 años. El síndrome de Peutz-Jeguers (SPJ) es una condición rara y su frecuencia es probablemente inferior a 1/50,000. Se caracteriza por la presencia de pólipos hamartomatosos potencialmente malignos en el tracto digestivo asociada a pigmentaciones mucocutáneas características. Los datos actuales sugieren la existencia de al menos 2 genes implicados: STK11 (19p13.3), identi cado recientemente, es el responsable de la enfermedad en el 70% de las familias. Se describe el caso de dos adolescentes con cuadro de Intususcepción intestinal con diagnóstico de poliposis familiar de Peutz-Jeghers, requiriendo ambas procedimiento quirúrgico

Intestinal intussusception occurs more frequently in the infant younger than 2 years, with a peak between 5 and 9 months of age. In the vast majority of cases it is idiopathic or of unknown cause, probably secondary to a viral infection that causes a growth of the intestinal lymphatic tissue. Only in 2-8% of the patients an anatomical alteration as cause of the intussusception is demonstrated (Meckel's diverticulum, polyp). It is called secondary intestinal invagination, which usually occurs in children under 3 months or older than 3 years. Peutz-Jeguers syndrome (SPJ) is a rare condition and its frequency is probably less than 1 / 50,000. It is characterized by the presence of potentially malignant hamartomatous polyps throughout the digestive tract associated with characteristic mucocutaneous pigmentations. Current data suggest the existence of at least 2 genes involved: STK11 (19p13.3), recently identi ed, is responsible for the disease in 70% of families. We describe the case of two adolescents with intestinal intussusception with a diagnosis of familial polyposis of Peutz Jeghers, requiring both surgical procedures

Small Bowel Tumors and Polyposis: How to Approach and Manage? / 대한소화기학회지

Although small bowel the mainly occupies the most part of the gastrointestinal tract, small intestine tumors are rare, insidious in clinical presentation, and frequently represent a diagnostic and management challenge. Small bowel tumors are generally classified as epithelial, mesenchymal, lymphoproliferative, or metastatic. Familial adenomatous polyposis and Peutz-Jeghers syndrome are the most common inherited intestinal polyposis syndromes. Until the advent of capsule endoscopy (CE) and device-assisted enteroscopy (DAE) coupled with the advances in radiology, physicians had limited diagnostic examination for small bowel examination. CE and new radiologic imaging techniques have made it easier to detect small bowel tumors. DAE allows more diagnosis and deeper reach in small intestine. CT enteroclysis/CT enterography (CTE) provides information about adjacent organs as well as pictures of the intestinal lumen side. Compared to CTE, Magnetic resonance enteroclysis/enterography provides the advantage of soft tissue contrast and multiplane imaging without radiation exposure. Treatment and prognosis are tailored to each histological subtype of tumors.

Cronkhite-Canada Syndrome Showing Good Early Response to Steroid Treatment / 대한소화기학회지

No abstract available.

Síndrome de Gardner: relato de caso e breve revisão da literatura / Gardner Syndrome: case report and brief review of the literature

Modelo do estudo: Relato de caso. Importância do problema e comentários: A Síndrome de Gardner trata-se de uma variante da Polipose Adenomatosa Familiar (PAF), com associação de pólipos gastrointestinais, tumores de partes moles e tumores ósseos. É uma desordem rara e o diagnóstico precoce é crucial para redução da morbimortalidade. O presente estudo relata um caso de Síndrome de Gardner com seus achados clínicos e radiológicos, além de apresentar breve revisão da literatura. (AU)

Type of study: Case report. Relevance and comments: Gardner Syndrome is a variant of Familial Adenomatous Polyposis (FAP), with the association of gastrointestinal polyps, soft tissue tumors and bone tumors. It is a rare disorder and early diagnosis is crucial to reduce its morbimortality. The present report illustrates a case of Gardner Syndrome with its clinical and radiologic features, as well as a brief review of the literature. (AU)

Localización y tamaño de los adenomas del colon como factores asociados a displasia de alto grado / Localization and size of colon adenomas as factors related to high grade dysplasia

Objetivo: Determinar si la localización y el tamaño de los adenomas de colon se asocian con la presencia de displasia de alto grado en los pacientes de un hospital peruano. Materiales y Métodos: Se realizó un estudio trasversal mediante la revisión de informes de colonoscopías de los años 2014-2015 del Hospital Nacional Daniel Alcides Carrión, incluyéndose los pólipos de pacientes mayores de 18 años; y excluyéndose los de pacientes con cáncer de colon, antecedente de cirugía oncológica, enfermedad inflamatoria intestinal y poliposis (6 o más). Se extrajeron los datos de localización (colon proximal y distal, división a partir del ángulo esplénico), tamaño (menos de 10 mm y 10 mm o más), forma (pediculados y sésiles) y grado de displasia (bajo y alto grado). Se calculó la fuerza de asociación mediante OR, se determinó si existía asociación a través de la prueba Chi cuadrado, con nivel de significancia menor a 0,05. Resultados: De un total de 1710 informes de colonoscopías revisadas, 378 personas tuvieron pólipos, calculando una tasa de detección de adenomas de 22,1%. De los 458 pólipos encontrados 254 fueron adenomas. Se demostró una asociación significativa entre la localización en colon distal y displasia de alto grado (OR 2,68 IC 1,12-6,42, p<0.05); asimismo, los adenomas mayores o iguales a 10 mm tuvieron más riesgo de displasia de alto grado (OR 7,75 IC 3,05-19,69, p<0.05). No se encontró asociación entre la forma de los adenomas y grado de displasia. Conclusión: Se concluye que el tamaño de 10 mm o más y la localización en colon distal se asocian a displasia de alto grado en los adenomas.

Objective: To determine whether localization and size are related to the presence of high-grade dysplasia of colon adenomas in patients of a Peruvian hospital. Materials and methods: This is a descriptive transversal study. We checked colonoscopy reports of 2014-2015 years of Hospital Daniel Alcides Carrion, we included the polyps found in patients older than 18 years old, and excluded reports from patients with colorectal cancer, an antecedent of oncological surgery, inflammatory bowel disease and polyposis (6 or more). We used data based on localization (proximal and distal colon, based on the splenic angle), size (less than 10 mm and 10 mm or more), shape (pediculate and sessile) and grade of dysplasia (low and high-grade). We calculated the strength of association by OR, and we determined whether there was association by Chi-square test with a significance value less than 0.05. Results: We reviewed a total of 1710 of colonoscopy reports, 378 patients had polyps, so the adenoma detection rate was 22.1%. There were 458 polyps, from which 254 were adenomas. From these adenomas, we found an association between distal colon localization and high-grade dysplasia (OR 2.68 IC 1.12-6.42, p<0.05); likewise, there was an association between the size of the adenomas and high-grade dysplasia (OR 7.75 IC 3.05-19.69, p<0.05). We did not find any association between the shape and grade of dysplasia. Conclusion: This study concludes that there is an association between the size of 10 mm or more and localization in the distal colon with high-grade dysplasia of adenomas.

Síndrome de Peutz-Jeghers: novos dados e bases moleculares sobre uma doença rara / The Peutz-Jeghers syndrome: new data and molecular bases on a rare disease

A síndrome de Peutz-Jeghers é uma associação de polipose no trato gastrointestinal do tipo familiar e pigmentação melânica mucocutânea, particularmente nos lábios, mucosa bucal e polpa digital. Há poucas décadas, algumas centenas de casos haviam sido descritos na literatura, o que torna a doença não tão rara. O objetivo deste trabalho foi relatar casos clínicos em que os pacientes eram portadores da síndrome. Em um dos casos, tia e sobrinha evidenciaram a implicação genética da doença. Dados clínicos, bases moleculares e resultados histopatológicos, com a utilização de anticorpos (Ac) monoclonais, mostram a relevância do trabalho. Portadores crônicos da síndrome após décadas, ainda não diagnosticados, procuram o cirurgião-dentista para tratamentos diversos, dando-lhe oportunidade e responsabilidade na detecção da doença, devido ao risco de desenvolvimento de tumores malignos no trato gastrointestinal.

The Peutz-Jeghers syndrome is a familiar association of polyposis in the gastrointestinal tract and melanic mucocutaneous pigmentation, particularly in the lips, oral mucosa and fi ngertips. A few decades few hundred cases had been described in the literature wich makes the disease not so rare. The objective of this study is to report clinical cases where patients were carriers of the syndrome. In one of the cases the aunt and nice showed the genetic implication of the disease. Clinical data, molecular basis and histopathological results with monoclonal antibodies (Ac), show the relevance of this work. Chronic carriers of the syndrome after decades, still undiagnosed, seek the dentist for various treatments giving him the opportunity and responsibility to detect the disease due to the risk of development of malignant tumors in the gastrointestinal tract.

Correlación entre diagnóstico ecográfico e histopatológico de poliposis vesicular en la Clínica Good Hope 2008-2014 / Correlation between sonographic diagnosis and histopathological results of gallbladder poliposis in Good Hope Clinic 2008-2014

Objetivo: determinar la correlación entre el diagnóstico ecográfico y el resultado histopatológico de poliposis vesicularen los pacientes y encontrar el valor predictivo positivo de la ecografía en el diagnóstico de esta patología.Material y Métodos: Es una investigación no experimental, transversal, descriptiva y correlacional, realizada en unamuestra de 128 pacientes operados con diagnóstico de poliposis vesicular en la clínica Good Hope entre 2008 y 2014. Serevisaron los informes ecográficos e histopatológicos de estos pacientes y se buscó la relación mediante el coeficiente decorrelación de Spearman.Resultados: El 67,2% de la muestra correspondió al sexo femenino y el 32,8% al sexo masculino; la edad promedio fue de43,4 años. El 74,2% de los 128 casos presentó pólipos según el examen histopatológico, de los cuales el 94,7% fueronpseudopólipos y 84% fueron pólipos de colesterol; solo el 5,3% de los pólipos fueron verdaderos (adenomas) y ninguno deellos fue maligno, el pólipo más grande midió 13 mm. El valor predictivo positivo de la ecografía en el diagnóstico depoliposis vesicular fue 74.21%. La correlación entre el número de pólipos por ecografía e histopatología según elcoeficiente de Spearman fue muy baja, directa y significativa (Rho=0,189, p=0,032).Conclusión: Existe una correlación directa entre el diagnóstico ecográfico y el resultado histopatológico de poliposisvesicular; la ecografía puede considerarse como un método confiable para el diagnóstico de esta patología.

Objective: To determine the correlation between sonographic diagnosis and histopathological results of gallbladderpolyposis and find the positive predictive value of ultrasound in the diagnosis of this pathology.Material and Methods: It is a non experimental, transversal, descriptive and correlational study with a sample composedof all patients operated with a diagnosis of gallbladder polyps in the Good Hope Clinic between the years 2008 and 2014. Atotal of 128 patients were observed. Histopathological and sonographic reports of these patients were reviewed and thestatistical correlation of both studies was sought by the test of Spearman.Results: Reveals that 67,2% were females and 32,8% were males; the average age was 43,4 years; 74,2% presented polypsby histopathological examination, of which 94,7% were pseudopolyps, with 82 % cases of cholesterolpolyps, only 5,3% weretrue polyps (adenomas) and none of them were malignant. The positive predictive value of ultrasound in the diagnosis ofgallbladder polyposis was 74,21%. According to the Spearman coefficient the correlation between the number of polyps byultrasonography and histopathology was low, direct and significant (Rho = 0,189; p = 0,032).Conclusions: We conclude that there is a correlation between the ultrasound diagnosis and histopathological result ofgallbladder polyps and ultrasound can be considered a reliable method for the diagnosis of gallbladder polyps.

Polyps! Polyps! And More Polyps! - The First Case of Cronkhite-Canada Syndrome in Malaysia

Cronkhite-Canada Syndrome (CCS) is a syndrome characterised by a constellation of signs including but not limited to onychodystrophy of the finger and toe nails, skin hyperpigmentation and alopecia. Endoscopic features showed hamartomatous polyps involving all segments of the gastrointestinal tract with the characteristic exception of being oesophageal sparring. These polyps show confirmation by the presence of eosinophils and mast cells at the lamina propria upon histological studies.

Gardner syndrome associated with multiple osteomas, intestinal polyposis, and epidermoid cysts

Gardner syndrome is known as a variant of familial adenomatous polyposis. This syndrome is characterized by multiple intestinal polyposes, osteomas, and epidermoid cysts. In addition, dental abnormalities include an increased frequency of multiple odontomas, as well as supernumerary and impacted teeth. The authors report the case of a 7-year-old male patient with Gardner syndrome. Radiographic findings revealed multiple osteomas in both sides of the maxilla, multiple diffuse enostoses in both jaws, and a complex odontoma in the left mandibular body. Two years later, multiple epidermoid cysts on the scalp were found. Since this patient was suspected to have Gardner syndrome, the authors recommended gastrointestinal endoscopy to check for intestinal polyposis. Gastrointestinal endoscopic examination revealed multiple polyposes in the upper gastrointestinal tract and fundus of the stomach. As a result, the final diagnosis was Gardner syndrome.

Chemopreventive Action of Anthocyanin-rich Black Soybean Fraction in APC(Min/+) Intestinal Polyposis Model

BACKGROUND: Anthocyanins have been shown to inhibit cancer cell growth by suppressing oxidative stress and inflammatory responses. The purpose of this study was to investigate the effects of an anthocyanin-rich extract (AE) from black soybean coat on intestinal carcinogenesis. METHODS: APC(Min/+) mice were fed a diet of 0.2% or 0.5% AE for 7 weeks. We analyzed the number of intestinal tumors, oxidative stress and inflammatory markers associated with beta-catenin and cytosolic phospholipase A2 (cPLA2) signals. The number of intestinal tumors, and cellular expression of beta-catenin were determined. RESULTS: The number of intestinal tumors was significantly lower in mice fed a 0.5% AE diet compared to those of the other groups. Cytosolic beta-catenin expression was significantly decreased in the AE supplemented groups compared to that of the control animals. In addition, mucosa expression of cyclooxygenase-2 and cPLA2 were also significantly decreased in the 0.5% AE group, by 32% and 62%, respectively, compared to the control group. CONCLUSIONS: These results suggest that dietary AE reduced the development of intestinal tumors, possibly through the ability to suppress oxidative stresses, decreasing inflammatory responses mediated by beta-catenin associated signals.

Identificação de mutações nos genes APC e MUTYH em famílias com polipose adenomatosa intestinal / Mutational screening of APC and MUTYH genes in families with adenomatous polyposis

Atualmente, pacientes com múltiplos adenomas colorretais são avaliados para mutações germinativas em dois genes, APC e MUTYH. Pacientes com mutações em APC apresentam Polipose Adenomatosa Familiar Clássica ou Atenuada (FAP/AFAP), enquanto que pacientes portadores de mutações bialélicas em MUTYH apresentam Polipose Associada ao MUTYH (MAP). O espectro das mutações em APC e MUTYH, assim como as correlações genótipo-fenótipo nestas síndromes, apresentam importante impacto clínico e podem ser distintas em cada população, tornando necessária a obtenção de dados genéticos e clínicos de diferentes populações. Além disso, cerca de 10-15% dos pacientes com polipose não apresentam mutações nesses genes, o que sugere a existência de outros genes de predisposição ainda desconhecidos. Assim, os objetivos deste estudo foram caracterizar mutações germinativas nos genes APC e MUTYH em pacientes Brasileiros com polipose, além de identificar novos genes associados com a síndrome através de sequenciamento de exoma dos pacientes negativos. No total, 23 pacientes não relacionados foram avaliados para mutações pontuais na região codificante dos genes APC e MUTYH através de sequenciamento capilar, e para rearranjos genômicos nos mesmos genes por meio de MLPA (Multiplex Ligation-Dependent Probe Amplification), arrays de hibridação genômica comparativa (CGH-array), e PCR duplex quantitativo. Este último método de avaliação do número de cópias genômicas foi desenvolvido e validado no presente estudo. Foram identificados 21 pacientes mutados nesta coorte (91%) - 6 pacientes apresentaram mutações patogênicas em MUTYH, 14 apresentaram mutações patogênicas em APC e um paciente foi portador de uma nova variante missense de significado clínico desconhecido em APC (p.Val1789Leu); seis mutações foram descritas pela primeira vez neste trabalho. Em um destes pacientes identificamos a primeira grande deleção genômica descrita no gene MUTYH. Correlações genótipo-fenótipo dos dados...

Patients with multiple colorectal adenomas are currently screened for germline mutations in two genes, APC and MUTYH. APC-mutated patients present classic or attenuated familial adenomatous polyposis (FAP/ AFAP), while patients carrying biallelic MUTYH mutations exhibit MUTYH-associated polyposis (MAP). The spectrum of APC and MUTYH mutations as well as the genotype-phenotype correlations in polyposis syndromes present clinical impact and can be population specific, making important to obtain genetic and clinical data from different populations. Furthermore, up to 10-15% of polyposis patients do not harbor mutations in these genes, suggesting that other yet unknown polyposis-predisposing genes could exist. Thus, the aim of this study was to characterize germline mutations in APC and MUTYH genes in Brazilian polyposis and to investigate novel susceptibility genes by exome sequencing of negative patients. At total, 23 unrelated polyposis patients were screened for APC/MUTYH point mutations through DNA capillary sequencing, and for APC and MUTYH genomic rearrangements through MLPA (multiplex ligation-dependent probe amplification), array-comparative genomic hybridization, and duplex quantitative PCR. This last gene dosage method was developed and validated in this study. We identified 21 mutated patients in this cohort (91%) – 6 patients carried MUTYH pathogenic mutations, 14 carried APC pathogenic mutations and one carried a novel APC missense variant of unknown clinical significance (p.Val1789Leu); six mutations were described for the first time in this series. One of these patients harbored the first large genomic deletion identified in MUTYH gene...

Pathogenesis and Management of Serrated Polyps: Current Status and Future Directions

Hyperplastic or serrated polyps were once believed to have little to no clinical significance. A subset of these polyps are now considered to be precursors to colorectal cancers (CRC) in the serrated pathway that may account for at least 15% of all tumors. The serrated pathway is distinct from the two other CRC pathways and involves an epigenetic hypermethylation mechanism of CpG islands within promoter regions of tumor suppressor genes. This process results in the formation of CpG island methylator phenotype tumors. Serrated polyps are divided into hyperplastic polyps, sessile serrated adenomas/polyps (SSA/Ps), and traditional serrated adenomas (TSAs). The SSA/P and the TSA have the potential for dysplasia and subsequent malignant transformation. The SSA/Ps are more common and are more likely to be flat than TSAs. Their flat morphology may make them difficult to detect and thus explain the variation in detection rates among endoscopists. Challenges for endoscopists also include the difficulty in pathological interpretation as well surveillance of these lesions. Furthermore, serrated polyps may be inadequately resected by endoscopists. Thus, it is not surprising that the serrated pathway has been linked with interval cancers. This review will provide the physician or clinician with the knowledge to manage patients with serrated polyps.

Cáncer de tiroides y síndromes polipósicos intestinales Síndrome de Gardner / Thyroid cancer and intestinal polyposis syndromes Gardner syndrome

Resumen Presentamos el caso de una mujer de 22 años de edad, evaluada debido a que en su historia familiar a su madre se le encontró carcinoma de colon sigmoide. A la paciente se le diagnosticó poliposis colónica, que resolvió tras remoción endoscópica de las lesiones. Se realizó estudio de nódulo tiroideo y se realizó tiroidectomía total encontrándose un carcinoma papilar de tiroides como diagnóstico definitivo. Hicimos una revisión de la literatura. (Acta Med Colomb 2013; 38: 182-185).

Abstract We report the case of a 22-year-old woman evaluated because in her family history his mother had a sigmoid colon carcinoma. The patient was diagnosed with colonic polyposis, which resolved after endoscopic removal of the lesions. We made the study of a thyroid nodule and performed total finding a papillary thyroid carcinoma as definitive diagnosis. (Acta Med Colomb 2013; 38: 182-185).

Peutz-Jeghers como síndrome cutáneo y poliposis gastrointestinal / Peutz-Jeghers-like cutaneous syndrome and gastrointestinal polyposis / Peutz-Jeghers como síndrome cutânea e poliposis gastrointestinal

El síndrome de Peutz-Jeghers (SPJ) es un trastorno poco frecuente, de herencia autosómica dominante, caracterizado por la asociación de pigmentación mucocutánea y poliposis intestinal, los cuales están presentes desde la infancia y, a veces, conduce a la invaginación intestinal o hemorragia gastrointestinal con predisposición considerable a la malignidad.

Peutz-Jeghers syndrome (PJS) is a rare disorder of autosomal dominant inheritance, characterized by the association of cutaneous and mucosal pigmentation and intestinal polyps, which are present from childhood and can sometimes lead to intussusception or gastrointestinal bleeding with significant predisposition to malignancy.

A síndrome de Peutz-Jeghers (SPJ) é um transtorno pouco frequente, de herança autosómica dominante, caracterizado pela associação de pigmentação mucocutánea e poliposis intestinal, os quais estão presentes desde a infância e as vezes pode conduzir à intussuscepção intestinal ou hemorragia gastrointestinal com predisposição considerável à malignidade.

Intestinal intussusception in adults: tomographic findings and report of two cases / Intestinal intussusception in adults: tomographic findings and report of two cases.

Intestinal intussusception is infrequent in adults. Unlike what happens in kids, it shows a demonstrable etiology in most cases: polyps, lipomas, hamartomas, malignancies, etc. Among diagnostic methods, CT scan is the study that yields the best results for the diagnosis, giving forth pathognomonic signs and favoring therapeutic decision-making. Two cases of intestinal intussusception in adults secondary to benign pathology are analyzed, stressing mainly the tomographic findings and some considerations about therapeutic decision-making based on tomographic results.

A Case of Cronkhite-Canada Syndrome Showing Spontaneous Remission

Cronkhite-Canada syndrome (CCS) is a rare, noninherited gastrointestinal polyposis syndrome associated with ectodermal changes such as alopecia, nail dystrophy, and cutaneous hyperpigmentation. The etiology and pathogenesis of CCS are not known, but diarrhea, malnutrition, gastrointestinal bleeding, and infection may occur in the affected patient; moreover, this condition could be fatal. However, previous reports have described several cases of spontaneous remission. We report a 60-year-old man who was incidentally found to have colonic polyposis, alopecia, and hypogeusia and was diagnosed to have CCS. However, this patient experienced spontaneous remission, including regrowth of body hair and alleviation of bowel inflammation, without any specific medications such as steroids, antibiotics, or proton pump inhibitors.

Autosomal Dominant Inherited Cowden's Disease in a Family

Cowden's disease, also known as a kind of phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome, is an uncommon autosomal dominant inherited complex disorder with various hamartomatous growths of multiple organs involving all three germ cell layers. It usually manifests with polyps throughout the gastrointestinal tract, ranging anywhere from 30% to 85%, and more common extra intestinal findings. Mucocutaneous lesions like facial trichilemmomas, acral keratoses, papillomatous papules and macrocephaly, and malignancies including breast, thyroid and endometrial carcinoma are the hallmark of the disease. Here we report on familial Cowden's diseases case of a 52-year-old male proband with mucocutaneous lesions and mutation on the PTEN gene obtained by extrapolating from gastrointestinal polyposis as a starter and his daughter who developed thyroid cancer.

A Novel Germline Mutation in Exon 10 of the SMAD4 Gene in a Familial Juvenile Polyposis

Familial juvenile polyposis (FJP) is a rare autosomal dominant hereditary disorder that is characterized by the development of multiple distinct juvenile polyps in the gastrointestinal tract and an increased risk of cancer. Recently, germline mutations, including mutations in the SMAD4, BMPR1A, PTEN and, possibly, ENG genes, have been found in patients with juvenile polyps. We herein report a family with juvenile polyposis syndrome (JPS) with a novel germline mutation in the SMAD4 gene. A 21-year-old man presented with rectal bleeding and was found to have multiple polyps in his stomach, small bowel, and colon. His mother had a history of gastrectomy for multiple gastric polyps with anemia and a history of colectomy for colon cancer. A review of the histology of the polyps revealed juvenile polyps in both patients. Subsequently, mutation screening in DNA samples from the patients revealed a germline mutation in the SMAD4 gene. The pair had a novel mutation in exon 10 (stop codon at tyrosine 413). To our knowledge, this mutation has not been previously described. Careful family history collection and genetic screening in JPS patients are needed to identify FJP, and regular surveillance is recommended.