Table 1.
Case timeline
| Relevant Medical History and Interventions | |||
|---|---|---|---|
| A 25-year-old man presented with a history of asthma. He had a family history of a maternal uncle and maternal grandmother with colon cancer at age 48 and 47 years, respectively, as well as a maternal cousin with a history of recurrent pneumothorax and a cousin with congenital ganglioneuroblastoma. | |||
| Date | Summaries from initial and follow-up visits | Diagnostic testing | Interventions |
| March 2019 | The patient had painless gross hematuria. Biopsy demonstrated renal clear cell carcinoma | Urinalysis; CT scan showing left renal mass, renal vein thrombosis with IVC extension, and nodal and hepatic metastases. Results of CT scans of the chest, a bone scan, and brain MRI showed no further metastatic disease | Admitted to the hospital for placement of an IVC filter and for renal biopsy; surgery consisted of cytoreductive nephrectomy, caval thrombectomy, and partial colectomy with reanastomosis |
| April 2019 | After discharge, the patient presented to the ED with nightly fevers, abdominal pain, and watery diarrhea | Chest radiograph showed free air under the diaphragm. CT scan of the abdomen and pelvis demonstrated free fluid with flecks of gas and linear peritoneal enhancement, which was concerning for an infected abscess | Drain placement; administration of IV antibiotics |
| July 2019 | The patient presented to the ED for fever, abdominal pain, and left flank pain | Sinogram with fistula; germline pathogenic mutations found in FLCN and SDHB, specifically at c.1252delC and p.L87S | Drain exchange; administration of antibiotics |
| March to August 2019 | Ongoing metastatic disease | Palliative therapy with 1 mg/kg of ipilimumab and 3 mg/kg of nivolumab for 4 cycles | |
| September to October 2019 | Progressive disease on imaging | CT scan of the abdomen and pelvis showed decreasing size of left upper quadrant abscess, increasing ascites, and advanced metastatic disease to the liver | 5 mg/d of everolimus |
| October to December 2019 | The patient was admitted to the hospital for fever and ascites. He developed multiorgan failure, and then septic shock because of ventilator-acquired pneumonia | CT scan of the abdomen and pelvis showed persistent left upper quadrant abscess, advanced metastatic disease, and ascites | Antibiotic therapy with cefepime, levofloxacin, and daptomycin |
| January 2020 | The patient’s code status was changed to DNR, and he was then transitioned to comfort care, during which time the patient passed away with his family at the bedside | Fentanyl patches and morphine for pain | |
CT = computed tomography; DNR = do not resuscitate; ED = emergency department; FLCN = folliculin; IV = intravenous; IVC = inferior vena cava; MRI = magnetic resonance imaging; SDHB = succinate dehydrogenase B.