A Novel APOC2 Mutation in a Colombian Patient with Recurrent Hypertriglyceridemic Pancreatitis.

Hypertriglyceridemia is a common disease with only 2% of cases exhibiting monogenic mutations. Familial chylomicronemia syndrome (FCS) is a rare genetic condition associated with recurrent and severe episodes of pancreatitis and is mainly caused by mutations in the LPL gene, with few cases related to abnormal function of apolipoprotein C-II. This is a 50-year-old female with a past medical history of arterial hypertension, miscarriage and recurrent pancreatitis. In the last four years, her triglycerides and lipase concentration reached >3000 mg/dL and >700 U/L, respectively. The patient was not responsive to statins, fibrates, or tetrahydrolipstatin. A novel homozygous frameshift mutation on exon 3 of the APOC2 gene was detected, c.133_134delTC. Subsequent Sanger sequencing confirmed that three first-degree relatives were carriers of the same mutation. To the best of our knowledge, we are reporting the first Colombian patient with FCS due to an APOC2 mutation. We propose that this mutation caused recurrent hypertriglyceridemic pancreatitis.

Clear cell renal carcinoma synchronous with dedifferentiated liposarcoma: a case report and review of the literature.

BACKGROUND: Multiple primary malignant neoplasms are not frequent but are increasing in incidence. Some of them are associated with genetic syndromes such as von Hippel-Lindau syndrome and Li-Fraumeni syndrome. Dedifferentiated liposarcoma is one of the rarest soft tissue tumors, and clear cell renal carcinoma is the most frequent kidney cancer. The concomitant presence of these tumors is extremely rare; however, some cases have been reported, none of them presenting with liposarcoma of the limbs. We report an interesting case of a patient with synchronous multiple primary tumors presenting with a very rare liposarcoma associated with renal cell carcinoma (a very rare association). A review of the literature and a collection of similar cases published previously are also provided. CASE PRESENTATION: We report a case of a 62-year-old Hispanic man who presented to our institution with a left thigh mass compatible with dedifferentiated liposarcoma synchronous with metastatic clear cell renal carcinoma. Multiple treatment lines were provided with no response, with a further metastatic transformation. Genetic analysis by liquid biopsy showed some mutations that were not susceptible to targeted therapy. At the time of this report, the patient is undergoing palliative care because his nonresponsive metastatic disease persists. CONCLUSIONS: We present the first reported case of clear cell renal carcinoma synchronous with dedifferentiated liposarcoma of a limb. The association between renal cell carcinoma and dedifferentiated liposarcoma is unusual, and there are few reports of this presentation in the literature. More research about these tumors along with genetic tests needs to be performed to seek a better understanding of the fundamental basis of this rare association.