Dataset Information

Neuroendocrine Tumor of the Pancreas as a Manifestation of Cowden Syndrome: A Case Report.

ABSTRACT:

Context

Germline mutations in the phosphatase and tensin homolog (PTEN) tumor suppressor gene are found in the majority of patients with Cowden syndrome (CS), who have an increased risk of breast, thyroid, and endometrial cancer. According to our current understanding of genetic changes in the PTEN gene and the resultant phenotypic features of CS, pancreatic neuroendocrine tumors (NETs) are not considered part of the clinical spectrum of CS.

Case description

We report a unique case of an advanced NET of the pancreas in a patient with CS. The germline DNA sequencing confirmed the clinical diagnosis of CS and revealed a PTEN mutation c.697C?T (p.R233*) causing a premature stop codon in exon 7. The tumor DNA sequencing showed no loss of heterozygosity or any copy number changes and no other deleterious genetic alterations, including those commonly mutated in sporadic pancreatic NETs: MEN1, ATRX, DAXX, TP53, and genes involved in the mammalian target of rapamycin pathway. In addition, the high-throughput transcriptome analyzed by RNA-seq did not reveal any missed genetic alterations, aberrant splicing variants, gene fusions, or gene expression alterations. The immunohistochemical staining of the tumor for PTEN revealed an abnormal, uniformly strong cytoplasmic staining of tumor cells with virtually absent nuclear staining.

Conclusion

The results from genetic testing and histopathological techniques used to confirm CS diagnosis and characterize this unusual tumor tempted us to believe that in this case, the pancreatic NET was not a sporadic malignancy that occurred by coincidence, but rather represented a new entity in the spectrum of malignancies associated with CS.

SUBMITTER: Neychev V

PROVIDER: S-EPMC5393589 | biostudies-literature | 2016 Feb

REPOSITORIES: biostudies-literature

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Publications

Neuroendocrine Tumor of the Pancreas as a Manifestation of Cowden Syndrome: A Case Report.

Neychev V V Sadowski S M SM Zhu J J Allgaeuer M M Kilian K K Meltzer P P Kebebew E E

The Journal of clinical endocrinology and metabolism 20151217 2

<h4>Context</h4>Germline mutations in the phosphatase and tensin homolog (PTEN) tumor suppressor gene are found in the majority of patients with Cowden syndrome (CS), who have an increased risk of breast, thyroid, and endometrial cancer. According to our current understanding of genetic changes in the PTEN gene and the resultant phenotypic features of CS, pancreatic neuroendocrine tumors (NETs) are not considered part of the clinical spectrum of CS.<h4>Case description</h4>We report a unique cas ...[more]

PMID: 26678657

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Project description:IntroductionThe neuroendocrine differentiation in prostate cancer is a rare entity that may occur as de novo, or as a result of treatment with androgen deprivation. It is characterized by its rapid progression and poor prognosis, without elevation of the prostate specific antigen (PSA), which is why it is often diagnosed by biopsy of a site of metastasis; there are no established treatment regimens. In this case, metastasis was presented as implantation to a laparoscopic port. These implantations subsequent to laparoscopic procedures in prostate cancer are very rare, with an incidence between 0.09 and 0.7%. The exact pathogenesis of the tumor implantation at the insertion site is not clear, there are several theories.Materials and methodsWe describe the case of a 53-year-old patient with a diagnosis of prostate adenocarcinoma who underwent laparoscopic radical prostatectomy plus lymphadenectomy, staged as PT3BN0 (0/6) M0R1 Gleason 4 + 5. The patient never had negative PSA levels after the treatment, and presented elevation of the same, so radiotherapy was performed at a dose of 66 Gy plus antiandrogen deprivation therapy with leuprolide acetate for 30 months, with a decrease in PSA to 0.011 ng/ml, which remained stable. After 3 months of hormonal therapy, he presented with an umbilical mass on the scar of the laparoscopic port; ultrasound and computed tomography were performed, showing a solid mass dependent of the umbilical upper edge with a defect in the abdominal wall of 3 cm, as well as hepatic nodules suggestive of metastatic lesions and peritoneal implantations.ResultsA biopsy of the abdominal wall lesion was performed, documenting poorly differentiated carcinoma with an immune-profile consistent with neuroendocrine carcinoma; immunohistochemistry showed strong and diffuse positivity with cytokeratin cocktail and chromogranin. In conjunction with oncology, treatment with chemotherapy was decided. He received six cycles of cisplatin and etoposide, with progression of his disease and death seven months after diagnosis.ConclusionsProstate cancer with neuroendocrine differentiation is a rare entity, usually occurring in the castration resistance stage, with poor prognosis and survival of less than 1 year. It presents as clinical and radiological progression without elevation of the PSA. Although it is very rare, the possible causes include tumor implantation in laparoscopic ports and/or open surgery scars, so caution and certain precautions must be taken when performing radical prostatectomy. In case of suspecting a tumor with neuroendocrine differentiation, biopsy and immunohistochemistry studies should be performed in order to clarify the diagnosis and provide a multimodal treatment based on surgery, radiotherapy and chemotherapy.

Dataset Information

Neuroendocrine Tumor of the Pancreas as a Manifestation of Cowden Syndrome: A Case Report.

Context

Case description

Conclusion

Publications

Neuroendocrine Tumor of the Pancreas as a Manifestation of Cowden Syndrome: A Case Report.

Similar Datasets

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