Maia Shibutani is an Olympic ice-dancer. Along with her brother and partner Alex (known as the ), they won a bronze medal in Pyeongchang in 2018. Last October, the 25-year-old was visiting New York, when a stomach virus landed her in the emergency room. During her evaluation, an abnormality was discovered, and it was recommended that she have it further investigated. Returning to her Los Angeles home, she underwent an MRI which showed a small mass on her kidney. In December, she underwent surgery to remove the tumor. Fortunately, surgeons were able to remove the mass leaving the rest of the kidney intact. A few days later, she reported on Instagram, the as a malignant cuccinate dehydrogenase (SDH)-deficient renal cell carcinoma (RCC). Her doctors told her it was detected early and had not spread; no further treatment is considered necessary for now.
On February 20, 2020, exactly two years to the day that she won her Olympic bronze medal, Maia returned to the gym for the first time since her surgery. Although it was hard to admit that she was not in the same physical shape she was on that important date in 2018, she realized that she needed to :
"I stopped judging myself and instead focused on embracing the moment. Some days are tougher than others, but I'm learning and growing so much from the challenges of these past few months. Everything won't change right away and I need to continue to be patient, but today was a special reminder to celebrate, love, and be kind to myself."
On April 1, during the COVID-19 quarantine, Maia and Alex decided to create a GoFundMe page to raise money to provide PPE to healthcare providers through the organization #GetMePPE. Their original goal of $10,000 was reached in one day, and now they are aiming for (and getting close to) a new goal of $40,000.
Renal Cell Carcinoma
RCC, also called renal adenocarcinoma, originates in the tubules of the renal cortex (the outer portion of the kidney where the primary functions of the kidney occur). It is responsible for 80%-85% of all primary renal cancers. Adenocarcinomas may be separated into clear cell and granular cell carcinomas; however, the two cell types may occur together in some tumors.
About 4% of all adult malignancies are RCC. In the U.S. in 2020, about 73,750 cases of kidney cancer and renal pelvis cancer are expected to occur and lead to an estimated 14,830 deaths. The male-to-female ratio is 1.9:1.
The exact cause of RCC is unknown. The following factors increase a person's risk for renal cancer: older age, smoking, obesity, hypertension, chronic renal failure, dialysis treatment, polycystic kidney disease, African-American race, sickle cell disease, and renal stones.
There are also some hereditary diseases that increase the risk of RCC: tuberous sclerosis, Von Hippel-Lindau syndrome, Birt-Hogg-Dube syndrome, hereditary papillary renal carcinoma, and hereditary leiomyomatosis and renal cell carcinoma (HLRCC).
SDH-Deficient RCC
SDH-deficient renal cell carcinoma was first identified in 2004 and was accepted by the WHO as a unique subtype of RCC in 2016. It is estimated to make up 0.05% to 0.2% of all RCCs. Succinate dehydrogenase is an enzyme required by cells for energy metabolism. It is made up of four subunits, designated A through D. The majority of patients with SDH-deficient RCC have a germline mutation in the SDHB subunit (followed by C, D, and A).
In patients with a SDH-deficiency mutation, the lifetime risk of developing a renal tumor is 14%. Unlike the majority of patients with RCC, the mean age of patients with SDH-deficient RCC is only 37 years, with patients as young as 14 years of age. It is found in both males and females, with a slight male predominance.
Patients with this mutation are also predisposed to develop paragangliomas, pheochromocytomas, and gastrointestinal stromal tumors. More recently, it has been linked to patients with HLRCC. This is not especially surprising, as those patients have been noted to have mutations in fumarate hydroxylase, the next enzyme in the Krebs cycle after SDH.
At this time, no special protocols have been designed for SDH-deficient RCC patients and treatment is the same as others with RCC. However, the increased predisposition to other tumors would make regular surveillance for those tumors a reasonable addition to their care.
Symptoms
There may be no signs or symptoms in the early stages. Not infrequently, a tumor may be noticed incidentally during the workup for other diseases. Signs and symptoms may appear as the tumor grows, and may include:
- Blood in the urine
- Lump in the abdomen
- Pain in the side that doesn't go away
- Loss of appetite
- Weight loss for no known reason
- Anemia
Prognosis
Renal cell cancer can often be cured if it is diagnosed and treated when still localized to the kidney and to the immediately surrounding tissue. The probability of cure is directly related to the stage or degree of tumor dissemination. Even when regional lymphatics or blood vessels are involved with tumor, a significant number of patients can achieve prolonged survival and probable cure. When distant metastases are present, disease-free survival is poor; however, occasional selected patients will survive after surgical resection of all known tumor. Because a majority of patients are diagnosed when the tumor is still relatively localized and amenable to surgical removal, approximately 73% of all patients with renal cell cancer survive for 5 years.
Treatment
For patients with stage I RCC (tumor limited to the kidney), surgical resection is the accepted, often curative, therapy. Resection may be simple or radical. The latter operation includes removal of the kidney, adrenal gland, perirenal fat, and Gerota's fascia, with or without a regional lymph node dissection. Radial resection may also be curative for patients with stage II or III RCC.
In patients who are not candidates for surgery, arterial embolization may provide palliation. A small incision is made, and a catheter is inserted into the main blood vessel that flows to the kidney. Small pieces of a special gelatin sponge are injected through the catheter into the blood vessel. The sponges block the blood flow to the kidney and prevent the cancer cells from getting oxygen and other substances needed for growth.
The prognosis for any treated renal cell cancer patient with progressing, recurring, or relapsing disease is poor, regardless of cell type or stage. Almost all patients with stage IV renal cell cancer are incurable. Treatment options may include local surgery, immune checkpoint inhibitors, anti-angiogenic targeted therapies, interleukin therapy, as well as a number of other newer options.
Clinical trials for RCC can be found at clinicaltrials.gov.
Sources: ;
Michele R. Berman, MD, and Mark S. Boguski, MD, PhD, are a wife and husband team of physicians who have trained and taught at some of the top medical schools in the country, including Harvard, Johns Hopkins, and Washington University in St. Louis. Their mission is both a journalistic and educational one: to report on common diseases affecting uncommon people and summarize the evidence-based medicine behind the headlines.