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CHEK2 mutation in a patient with pancreatic adenocarcinoma-a rare case report.

ABSTRACT: Pancreatic cancer (PaCa) is very aggressive malignancy with poor prognosis. Individuals with a family history of PaCa have a higher risk of developing cancer which points to a hereditary component. Here, we report a unique case of CHEK2 mutant PaCa in a patient with no medical but significant family history. A 59-year old female presented with 3-month history of worsening epigastric pain and jaundice. CT abdomen/pelvis with contrast showed pancreatic head mass which was confirmed by endoscopic ultrasound guided biopsy. She was diagnosed with pancreatic adenocarcinoma harboring CHEK2 mutation. She had extensive surgery followed by adjuvant chemotherapy. Follow up imaging in 3 months obtained after surgery and adjuvant chemotherapy showed extensive liver metastasis and patient decided to pursue hospice. Germline testing in all PaCa patients has become essential as mutations in CHEK2 and other DNA repair genes constitute a unique subset of PaCas. Not only does it help in assessment of cancer risk in the individual and family members but also guide anticancer therapy selection. PaCa patients harboring CHEK2 mutations do not usually respond to chemotherapeutic agents such as gemcitabine. However, new treatment strategies such as PARP inhibitors targeting defective DNA repair mechanism are currently being investigated and showed some promise in treating CHEK2 mutant PaCa patients.

SUBMITTER: Vittal A

PROVIDER: S-EPMC7882266 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature

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CHEK2 mutation in a patient with pancreatic adenocarcinoma-a rare case report.

Vittal Anusha A Saha Debbie D Samanta Ipsita I Kasi Anup A

AME case reports 20210125

Pancreatic cancer (PaCa) is very aggressive malignancy with poor prognosis. Individuals with a family history of PaCa have a higher risk of developing cancer which points to a hereditary component. Here, we report a unique case of CHEK2 mutant PaCa in a patient with no medical but significant family history. A 59-year old female presented with 3-month history of worsening epigastric pain and jaundice. CT abdomen/pelvis with contrast showed pancreatic head mass which was confirmed by endoscopic u ...[more]

PMID: 33634245

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Project description:BackgroundPancreatic ductal adenocarcinoma (PDAC) accounts for 90% of all pancreatic carcinomas. Prognosis is poor with a worldwide five-year survival rate of 2-9%. Extent of metastasis is a prognostic factor. Most common metastatic sites include the liver, peritoneum, lung, and bones. We report a case of distant metastasis of PDAC to the left choroid.Case descriptionThis patient is a 59-year-old Caucasian male who initially presented with right flank pain progressing to exercise and activity impairment. Abdominal computed tomography scan showed a pancreatic tail mass subsequently confirmed as PDAC via endoscopic ultrasound with fine needle aspiration. Prior to treatment initiation, patient was referred to ophthalmology for acute vision changes. Evaluation revealed left eye pigmentary changes overlying subretinal fluid (SRF) along with peripheral retinal depigmentation indicative of choroidal metastasis. As of this report submission, patient has completed his initial 6-month course of gemcitabine/paclitaxel protein-bound/cisplatin with partial response. He remains active on his second line of chemotherapy. Visual disturbances and evidence of choroidal metastasis continue to resolve.ConclusionsPDAC is often identified at a late stage, with metastasis or local advancement identified in 80-85% of first diagnoses. This is thought to account for its poor median survival of two to eleven months. The retinal choroid is an extremely rare site of PDAC metastasis, with less than ten cases reported in literature. In this patient, the choroid was the first confirmed metastatic site and represented distant metastasis. Nevertheless, this patient continues to do well and is expected to exceed the upper bound median survival of 11 months following systemic chemotherapy. From this case, we note that distant metastasis prior to treatment initiation may not predict worse prognosis. Systemic chemotherapy was effective in both primary tumor shrinkage as well as regression of choroidal metastasis, leading to improvement in visual symptoms. This suggests that while choroidal metastasis should not be missed in patients with PDAC, systemic chemotherapy may be effective in mitigating collateral symptomatology and thus preserving quality of life.

Project description:BackgroundSweet's syndrome is a rare inflammatory disease of unknown etiology, and its relationship with tumors is unknown at present. Sweet's syndrome in patients with solid tumors, especially adenocarcinoma of the lung, is extremely rare. At present, only 1 case of an operative patient has been reported in the literature. Diagnosing lung cancer with Sweet's syndrome is not easy, when there is a fever with an unknown cause and erythemas, especially when the erythemas do not disappear after antibiotic treatment, a skin biopsy is much important. Although the exact mechanism of the disease and its link to lung cancer are unknown, our case shows that the active surgical treatment of the primary disease and appropriate glucocorticoid therapy are effective means.Case descriptionWe report the first case of a patient with Sweet's syndrome and lung adenocarcinoma with a decrease in peripheral whole blood cells. A 66-year-old male patient presented, who had been suffering from a fever for >10 days and had multiple tender erythemas, erythemas were mainly on the limbs and upper chest. He was treated with a variety of antibiotics, but his symptoms did not improve significantly. The routine blood tests results show a decline in peripheral blood cells, a chest computed tomography (CT) examination showed a space occupying lesion in the middle lobe of the right lung, which was considered peripheral lung cancer. Sweet's syndrome was diagnosed after a skin biopsy, a pathological examination showed that a large number of neutrophils were infiltrating. The patient then underwent video-assisted thoracoscopic lobectomy associated with the systematic dissection of the mediastinal lymph node, and glucocorticoids were administered. After the operation, the tender erythemas and fever disappeared, at the 1-month follow-up, the chest CT showed no obvious tumor recurrence or metastasis.ConclusionsTo the best of our knowledge, this is the first report of Sweet's syndrome in a patient with lung adenocarcinoma with 3 cell lines reduced. The active surgical treatment of the primary disease and appropriate glucocorticoid therapy proved to be an effective treatment for this syndrome.

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CHEK2 mutation in a patient with pancreatic adenocarcinoma-a rare case report.

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CHEK2 mutation in a patient with pancreatic adenocarcinoma-a rare case report.

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