Multiple primary malignancies and subtle mucocutaneous lesions associated with a novel PTENgene mutation in a patient with Cowden syndrome: Case report

Vasovčák, Peter; Šenkeříková, Mária; Hatlová, Jana; Křepelová, Anna

doi:10.1186/1471-2350-12-38

Cited by 12 publications

(16 citation statements)

References 27 publications

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“…On the other hand, the finding of gastrointestinal hyperplastic polyposis could be related to genetic variant in genes such as STK11, associated with Peutz-Jeghers syndrome [35]; APC, associated with familial adenomatous polyposis [36]; and PTEN, associated to Cowden syndrome [37]; or less often in TSC1/2 genes, associated to Tuberous sclerosis complex, whose gastrointestinal manifestations are uncommon [38]. The search for variants in other genes was not possible in the patient of the present report, due to his death and not autopsy authorization.…”

Section: Discussionmentioning

confidence: 99%

Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature

et al. 2020

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Background: Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant genodermatosis characterized by benign growth of the hair follicles, the presence of pulmonary cysts, spontaneous pneumothorax, and bilateral renal tumors that are usually hybrid oncocytic or multifocal chromophobe renal cell carcinoma. The diagnosis is confirmed by the presence of a pathogenic variant in the tumor suppressor folliculin (FLCN) gene mapped at 17p11.2. Although the dermatological lesions typical of BHDS are benign and only cause aesthetic concerns, and the pulmonary manifestations are controllable, the greater tendency of patients with this syndrome to present benign or malignant renal tumors, often bilateral and multifocal, makes the diagnosis of this syndrome important for the prognosis of the patients. The objective was to report the case of a patient with BHDS, without pulmonary manifestations and with hyperplastic polyposis of the gastrointestinal tract, and to perform a literature review. Case presentation: A 60-year-old man complained of abdominal pain and diarrhoea for 2 months. Physical examination was normal except for the presence of normochromic papules in the frontal region of the face associated with hyperkeratotic and hyperchromic papules in the dorsal region. The excisional biopsies of the skin lesions indicated trichodiscomas. Esophagogastroduodenoscopy, enteroscopy, and colonoscopy showed the presence of hyperplastic polyps in the stomach, duodenum, jejunum, colon, and rectum. Computed tomography (CT) and magnetic resonance imaging (MRI) of the abdomen revealed multiple expansive solid lesions in both kidneys, with necrotic and calcified areas. Renal magnetic resonance angiography also showed a solid lesion in the right kidney measuring 5 cm in diameter and another solid lesion in the left kidney measuring 8 cm in diameter, both suggestive of renal angiomyolipoma. CT scans of the skull, chest, and temporal bones were normal. The genetic study revealed the presence of a variant of FLCN in the intron 13. Conclusions: To the best of our knowledge, this is the first reported case of BHDS with the simultaneous finding of gastrointestinal hyperplastic polyposis, which may represent a possible phenotypic expression of this syndrome that has not yet been described.

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Section: Discussionmentioning

confidence: 99%

Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature

et al. 2020

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“…The histologic type of thyroid cancer was papillary tumor, and the histologic type of primary adnexal cancer was epithelial ovarian cancer. Hereditary cancer syndrome such as Cowden syndrome could be the explanation, 14 but none of the thyroid and primary adnexal cancers of 3 patients were diagnosed as Cowden syndrome.…”

Section: Primary Adnexal Cancermentioning

confidence: 99%

Risk of Metastatic Ovarian Involvement in Nongynecologic Malignancies

Kim¹,

Cho²,

Park³

et al. 2012

Int J Gynecol Cancer

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“…Paciente masculino de genitourinario, y anormalidades esqueléticas son las mas frecuentes. Las lesiones benignas de mama (enfermedad fibroquística, fibroadenomas) y los adenocarcinomas mamarios se desarrollan en un 76% y un 25-50% de las mujeres afectadas con el Síndrome de Cowden, respectivamente (12), las lesiones tiroideas en ocurren en al menos un 60% y el cáncer de tiroides se presenta en mas del 10% de los pacientes. Las anormalidades ginecológicas se han reportado en un 44 % en mujeres con Síndrome de Cowden.…”

Section: Casounclassified

“…El Síndrome de Cowden es una enfermedad autosómica dominante con variable penetrancia y una expresividad incompleta (6) caracterizada por el desarrollo de múltiples hamartomas (department of dermatology and cutaneous biology research) desarrollándose en piel, glándula tiroides, mama, tracto gastrointestinal y cerebro (12) , con predisposición a varias malignidades. (5) El locus del gen del Síndrome de Cowden ha sido mapeado cromosómicamente, estando en el cromosoma 10q22-23 donde se encuentra el gen PTEN ( Phosphatase and tensin Homologue) (11).…”

Section: Introductionunclassified

“…PTEN puede desfosforilar o fosforilar directa o indirectamente la kinasa de adhesión focal (Focal adehesion kinase FAK) (12) , PTEN, es un supresor de la vía fosfatidilinositol G E N É T I C A REVISTA MEDICA DE COSTA RICA Y CENTROAMERICA LXVI (602) 309-315; 2012 3 kinasa (PI3K) convirtiendo fosfatidilinositol 3,4,5-trifosfato (PIP3) en fosfatidilnositol 4,5-bifosfato(PIP2) (11), resultando en una inhibición de la migración celular o en una expansión de la misma. (12) Dada la importancia del PTEN como gen supresor tumoral, mutaciones en las líneas germinales de PTEN han estado vinculados con varios Síndromes autosómicos dominantes productores de hamartomas incluyendo la Enfermedad de Cowden, Síndrome de Bannayan-Riley-Ruvalcaba, y el Síndrome de Lhermitte-Duclos . (11) En el caso de la Enfermedad de Cowden, en el 80% de los pacientes se han encontrado mutaciones en la línea germinal de PTEN, ya sea en la secuencia de códigos de PTEN, en el promotor PTEN, o en el extremo no traducido 5'y 3', resultando en inhibición de la translocación o una inactividad catalítica, inmadura o inestable de la proteína PTEN, la cual va hacia una rápida degradación.…”

Section: Introductionunclassified

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Síndrome De Cowden

Criterios Clínicos De Enfermedades Genéticas

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Cowden's Syndrome is a disease caused by mutation in the PTEN gene, with formation of hamartomas at the level of skin, thyroid, breast, gastrointestinal tract, and even lung. Have a predisposition to malignancies such as thyroid and breast cancer, mainly. It Occurs at any age, with an average age of 39 years at the time of diagnosis, with a slight predominance in women. Due his symptomatic diversity, the Internation Cowden Consortium proposed several clinica criteria for diagnosis. The mucocutaneous lesions are the patognomonic feature. Due its potential malignancy, has a poor prognosis, being the management interdisciplinary.

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Multiple primary malignancies and subtle mucocutaneous lesions associated with a novel PTENgene mutation in a patient with Cowden syndrome: Case report

Cited by 12 publications

References 27 publications

Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature

Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature

Risk of Metastatic Ovarian Involvement in Nongynecologic Malignancies

Síndrome De Cowden

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