Browse
Submit Data
Databases
API
Help

Dataset Information

15 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Multifocal pancreatic PPoma in the setting of MEN1: Case report and review of literature.

ABSTRACT:

Introduction and importance

Functioning pancreatic neuroendocrine tumors (pNETs) that express pancreatic polypeptide-PPomas-do not yet have a pathognomonic clinical syndrome associated with them due to their overall rarity and diverse symptoms. Moreover, in patients with MEN1, the often multifocal nature of pNETs presents a unique clinical issue.

Case presentation

We report a case of a 22-year-old man with a known MEN1 gene mutation who was suffering from severe diarrhea (7-8 bowel movements per day) and was found to have only elevated PP levels on biochemical work-up. Ga68-DOTATATE PET/CT showed multifocal tumors in the body and tail of the pancreas that were not evident on contrast-enhanced CT. The patient underwent a successful laparoscopic radical antegrade modular pancreatosplenectomy (RAMP) and recovered well post-operatively with complete resolution of his diarrhea. Immunohistochemistry showed multiple pure PPomas.

Clinical discussion

This case highlights the unique propensity for multifocal disease in patients with MEN1 mutations and the utility of functional imaging by somatostatin analogs, i.e., Ga68-DOTATATE PET/CT, in order to perform oncologic laparoscopic pancreatic resections.

Conclusion

PPomas in the setting of MEN1 mutations are a unique clinical entity due to their diverse associated clinical syndromes and propensity for multifocal disease.

SUBMITTER: Mosenia A

PROVIDER: S-EPMC8193151 | biostudies-literature |

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Similar Datasets

Pancreatic follicular dendritic cell sarcoma: one case report and literature review.

Project description:Pancreatic follicular dendritic cell sarcoma (FDCS) is a rare neoplasm with unclear pathological characteristics. In this study, we report one case of pancreatic FDCS and review published cases to summarize the characteristics and treatment of pancreatic FDCS. A man in his early 30 s was admitted for jaundice, abdominal fullness, and weight loss for 15 days. Computed tomography revealed a large capsule solid mass in the pancreatic head together with a dilated bile duct and enlarged retroperitoneal lymph nodes. Serum biochemistry revealed high total bilirubin levels (313.9 μmol/L) and normal tumor marker levels. Pancreatoduodenectomy was performed, but no chemotherapy was administrated at the patient's behest. The pathologic diagnosis was pancreatic FDCS infiltrating the duodenal seromuscular layer and common bile duct. The patient presented with liver metastasis 3 months after surgery and died 8 months after surgery from multiorgan failure. Pancreatic FDCS is a rare disease with high invasiveness. Our previous case exhibited paraneoplastic syndrome together with this disease, and further investigation is needed to confirm whether paraneoplastic syndrome is a typical syndrome of pancreatic FDCS.

| S-EPMC9791293 | biostudies-literature

ALK-TPM3 rearrangement in adult renal cell carcinoma: report of a novel case showing misleading TFE3 expression and loss of chromosome 3 and literature review

Project description:We report a case of a 55 years old women who present a ALK associated renal cell carcinoma, with 3p deletion and measling of TFE3 expression. With CGH analysis and FISH we identify the rearrangment of ALK with TPM3

2017-03-24 | GSE96980 | GEO

Pancreatic serous cystadenocarcinoma: a case report and review of the literature.

Project description:BACKGROUND: Serous cystic neoplasms of the pancreas are benign lesions with little chance for malignant degeneration. We report a case of malignant serous cystadenocarcinoma of the pancreas and review the literature. METHODS: Structured review of the literature was performed using PubMed and MEDLINE searches, and cases of serous cystadenocarcinoma of the pancreas were compiled. RESULTS: A 70-year-old man diagnosed with a serous cystadenoma was managed expectantly until he became symptomatic, and studies revealed an increase in the size of the lesion as well as duodenal invasion. The patient underwent a pancreaticoduodenectomy, and histopathological examination revealed a locally invasive cystadenocarcinoma without metastatic disease. Seven years later, the patient remains disease-free. Review of the literature identified 25 cases of serous cystadenocarcinoma published to date. The mean age at diagnosis is 68 +/- 2 years (range, 52 to 81), and women are affected more commonly (2:1). CONCLUSIONS: We conclude that there is a small but finite risk of malignancy for serous cystic neoplasms of the pancreas. The clinician should bear this in mind when faced with decisions regarding patient management. Prognosis is excellent with multiple reports of long-term survival even in the face of metastatic disease.

| S-EPMC2759006 | biostudies-other

Lead management in setting of limited venous accesses: A case report and review of literature.

Project description: Not available

| S-EPMC8377270 | biostudies-literature

Adrenocortical carcinoma in patients with MEN1: a kindred report and review of the literature.

Project description:Objective Up to 40% of multiple endocrine neoplasia type 1 (MEN1) patients may have adrenal cortical tumors. However, adrenocortical carcinoma (ACC) is rare. The clinical manifestations, prevalence, inheritance and prognosis of ACC associated with MEN1 remain unclear. Here we report the clinical manifestations and prevalence of ACC in patients with MEN1. Design and methods A retrospective analysis of ACC associated with MEN1 patients at a single tertiary care center from December 2001 to June 2017. Genetic analysis of MEN1 and other ACC associated genes, loss of heterozygosity (LOH) of MEN1 locus, immunohistochemistry staining of menin, P53 and β-catenin in ACC tissue were performed. Results Two related patients had ACC associated with MEN1. The father had ENSAT stage IV tumor with excessive production of cortisol; the daughter had nonfunctional ENSAT stage I tumor. Both patients carried novel germline heterozygous mutation (c.400_401insC) of MEN1. The wild-type MEN1 allele was lost in the resected ACC tissue from the daughter with no menin staining. The ACC tissue had nuclear β-catenin staining, with heterozygous CTNNB1 mutation of 357del24 and P53 staining in only 20% cells. Conclusions ACC associated with MEN1 is rare and may occur in familial aggregates.

| S-EPMC6391906 | biostudies-other

Pancreatic schwannoma- CT and MRI findings: A rare case report and review of literature.

Project description:IntroductionPancreatic schwannoma (PS) is an extremely rare benign tumor. Here we describe the Computed Tomography (CT) and Magnetic Resonance Imaging (MRI) results of PS in a 59 years old woman, as well as a review of the literature.Case presentationA 59-year-old woman consulted for atypical epigastralgia without fatigue, weight loss or fever. CT scan and MRI showed a 35 mm inhomogeneous lesion with well-defined margins located in the pancreas head. The diagnosis of pancreatic tumor was made. The pathologic examination of the biopsied mass yielded a diagnosis of pancreatic schwannoma.Clinical discussionOn CT scans, almost all benign PS are well-defined cystic or low-density masses. MRI is helpful in characterizing their typical encapsulation.ConclusionThe detection of pancreatic schwannoma is extremely rare. Although multiple imaging modalities are currently available, it is challenging to make an accurate diagnosis before operation.

| S-EPMC8355828 | biostudies-literature

A rare case of pancreatic macrocystic serous cystadenoma in an adolescent: a case report and literature review.

Project description:While serous cystadenomas of the pancreas usually consist of small cysts, one rare variant has been reported to be composed of macrocysts. Herein, we present the case of the youngest patient with macrocystic serous cystadenoma (MSC) to be reported in the literature. The patient was a 17-year-old girl who presented with the major symptoms of a palpable abdominal mass accompanied by epigastric pain and vomiting for several months. A potential malignancy could not be excluded on the basis of imaging studies, which showed a large macrocystic pancreatic tumor that was 7 cm in diameter. Owing to the patient's symptoms, after diagnosing the mass as a pancreatic cystic tumor with potential malignancy and large tumor size, surgical intervention was arranged. Pathological analysis of the biopsy sample suggested MSC. By reviewing the literature, we found several unique characters of MSCs that cause them to be frequently misdiagnosed as potential malignancies. Additionally, the age of MSC occurrence was found to be lower than of general serous cystadenomas. The potential of MSC should be kept in mind by clinicians when diagnosing young people with pancreatic macrocystic lesions.

| S-EPMC9583217 | biostudies-literature

A germline c.1546dupC MEN1 mutation in an MEN1 family: A case report.

Project description:RationaleMultiple endocrine neoplasia type 1 (MEN1) is a rare tumor syndrome with an autosomal dominant inheritance, and genetic testing for MEN1 gene is important for both affected individuals and their relatives. We present a 2-person family affected by a germline c.1546dupC MEN1 mutation, and one of them had a full-spectrum of MEN-related endocrine tumors.Patient concernsA female patient aged 32 years presented with jejunal ulcer perforation due to gastrinoma.DiagnosesWe conducted genetic analysis and extensive biochemical/radiological evaluation for detecting other endocrine tumors. Multiple pancreatic neuroendocrine tumors (NETs), prolactinoma and primary hyperparathyroidism were diagnosed, and a frame-shift mutation, NM_130799.1:c.1546dupC (p.Arg516Profs∗15), was detected. One daughter of the proband, aged 12 years, had the same mutation for MEN1.InterventionShe underwent pancreatic surgery for pancreatic NETs and total parathyroidectomy for primary hyperparathyroidism.OutcomesAfter pancreatic surgery, long-term symptoms of epigastric soreness, acid belching, sweating, and palpitation in fasting were improved. Hypercalcemia was improved after parathyroidectomy and she was supplemented with oral calcium and vitamin D. Her daughter showed normal biochemical surveillance until 15 years of age.LessonsWe report 2 people in a family affected by MEN1 with the heterozygous germline c.1546dupC mutation, a variant that should be surveilled for early development of full-blown MEN1-associated endocrine tumors.

| S-EPMC8238345 | biostudies-literature

Pancreatic carcinosarcoma mimics malignant intraductal papillary mucinous neoplasm: A rare case report and literature review.

Project description:RationaleCarcinosarcoma, an extremely rare pancreatic primary tumor, is characterized by coexistence of both carcinomatous and sarcomatous components. Due to its rarity, the clinical manifestation and imaging features have not been recognized. An accurate diagnostic method has not been available and a widely accepted guidelines instructing treatment has not been established.Patient concernsWe present an uncommon case of pancreatic carcinosarcoma (PCS) which has been preoperatively diagnosed as pancreatic malignant intraductal papillary mucinous neoplasm. A radical resection, including total pancreatectomy (TP) and splenectomy, was performed.DiagnosisThe diagnosis of PCS was confirmed by postoperative pathology.InterventionsA radical resection, including TP and splenectomy, was performed. The patient was followed up by abdominal contrast-enhanced computed tomography scan and blood tumor marker examination.OutcomesThe patient is still alive and self-sufficient 7 months after the surgery. No evidence of tumor recurrence is found during follow-up.LessonsAlthough, until recently, there are no widely accepted guidelines instructing treatment for PCS, a radical resection is still a possible way. All the pancreatic neoplastic patients with high surgical risk should be transferred to a specialized high-volume pancreatic center to get precise preoperative evaluation, fine operation technique, and careful postoperative management.

| S-EPMC5466208 | biostudies-literature

Pancreatic Adenocarcinoma with Co-Occurrence of KRAS and EGFR Mutations: Case Report and Literature Review

Project description: Not available

| S-EPMC10907001 | biostudies-literature