Advancing Research after a Rare Diagnosis: Janet Yannelli's Acral Melanoma Journey

“I had never heard of acral melanoma, even though I’m a nurse,” remarked Janet Yannelli, lifelong Maine resident. Acral melanoma is a rare melanoma subtype that accounts for about 1-3% of cases each year. Acral melanoma forms on the palms, soles of feet, or under nails. Unlike cutaneous melanoma, it is not believed to be caused by sun exposure.

Diagnosing Acral Melanoma 

Several years ago, Janet first noticed two thin parallel lines on her right thumbnail. Aside from the visible dark marks, she did not experience any other symptoms or discomfort, so she ignored them. At the time, Janet was busy caring for her husband who was recovering from a traumatic injury, thus focusing much of her time and energy into that role.

Janet’s attitude changed, however, when she came across an online article on acral melanoma. “I saw a photo of acral melanoma, and it looked exactly like the marks on my thumb,” she said. While this did raise some concern for Janet, it wasn’t until about six months later when her thumbnail appeared bruised and started to lift that she knew something wasn’t right.

When Janet saw her primary care doctor shortly after, she was referred to a hand surgeon for further evaluation. The very next day, she saw the hand surgeon who believed Janet suffered trauma to her nail. With the image of acral melanoma in the back of her mind, Janet pushed back. 

“I don’t think the hand surgeon had ever seen a case of acral melanoma,” said Janet. “I’ve come to learn this is pretty common for people with rare melanomas. We learn about our diagnosis with our doctors.”

Janet and her hand surgeon agreed upon next steps: her entire nail was removed, and a biopsy was taken of her nailbed. Five days later – and nearly a year and a half after first noticing the lines on her thumbnail – she received her official diagnosis of acral melanoma.

Seeking a Second Opinion and Establishing a Care Plan

Just three days after her diagnosis, Janet met with a local surgical oncologist who recommended a partial thumb amputation to remove the lesion and surrounding tissue, and a sentinel lymph node biopsy to determine the stage of her melanoma. “Things started moving very rapidly at this point,” remembered Janet.

Within one week, Janet underwent surgery, during which her surgeon discovered bone involvement in the thumb. An affected lymph node was also found during the sentinel lymph node biopsy, confirming her melanoma as Stage 3C.

The surgeon concluded that achieving clear margins was not possible through surgery alone, so Janet’s team recommended a year of monthly infusions of the immunotherapy nivolumab, with follow up scans quarterly.

Wasting no time, Janet began her immunotherapy right away – but she also decided to seek out a second opinion. “I always advocate for getting a second opinion,” said Janet. “Part of it is because of my personal medical history, and part of it is from my long career in nursing.” Many years prior to her melanoma diagnosis, Janet underwent a mastectomy when she was 35 years old and a hysterectomy at 40. Through those trying medical times, she came to understand the importance and value of a second opinion firsthand.

Janet met with medical oncologist Donald Lawrence and surgical oncologist James Cusack at Massachusetts General Hospital for her second opinion, and both doctors agreed with her local oncologist’s plan. “This helped give me confidence that we were doing the right thing,” said Janet.

Throughout her year-long immunotherapy regimen, Janet only experienced mild side effects. “I tolerated the therapy well,” remarked Janet. “I had to do quite a bit of occupational therapy after surgery, but all in all I was able to continue living my life.”

Janet also had scans every three months to closely monitor for any recurrence, which continued after completing her year of immunotherapy infusions. “For the first two years I was extremely nervous after getting my scans,” Janet explained. “Scanxiety” – the anxiety associated with cancer-related scans – is something many patients face. “But after some time, when all my scans continued to be clear, I felt some relief.”

Nearly five years after receiving her diagnosis, Janet remains cancer free.

No Evidence of Disease and Advocating for Rare Melanoma Research

Showing No Evidence of Disease (NED) and continuing to do the things she enjoys - like travelling, spending time on the water, and gardening - Janet also tapped into several support systems. She sought out accurate information from various melanoma research sites, such as MRA’s CureMelanoma.org, as well as patient support groups to connect with others on similar journeys. “Talking to people going through the same thing helped a lot,” she said. “You feel less alone.”

Feeling isolated is not an uncommon experience for someone diagnosed with cancer, but it is especially true for those with a rare diagnosis like acral melanoma. Patients facing rare melanoma subtypes – acral, mucosal, and uveal – are often the only patient at their clinic with the subtype and are also often diagnosed later with poorer overall prognoses.

To address this, MRA began work in 2020 to launch the RARE Registry, a web-based, bidirectional, and interactive registry for patients with acral or mucosal melanoma to describe different aspects of their disease journey with the goal of advancing research on these rare melanoma subtypes. Janet heard about the registry in its infancy and expressed an interest in helping – so she joined as a Patient Advisor for the initiative. In her role – alongside other patients, caregivers, researchers, and clinicians – Janet has helped MRA build the registry.

“It’s important to spotlight rare diseases and push for more research,” said Janet.

When asked if she had any advice for someone just diagnosed with a rare melanoma, Janet shared the following: “Be your own advocate, but don’t jump to too many conclusions. Seek out a second opinion and find accurate information from reputable sources. There are people who have gone through something similar, so don’t be afraid to reach out and make those connections. Know you aren’t alone.”