Case Report Insights: Diagnosing Metastatic Malignant Melanoma From an Unknown Origin
Case Report Insights are in-depth interviews that take you inside the diagnosis with clinicians who recently published a Consultant case report.
In this Consultant Case Report Insights, Nandini N. Patel, OMS III, speak about her study, “Metastatic Malignant Melanoma from Unknown Origin to the Jejunum: A Case Report.” Nandini Patel discusses the challenges of diagnosing primary intestinal melanoma, the importance of collaborating with various specialists, and what lessons she took a way from being a part of the case.
Additional Resource:
Patel NN, Kola R, Zhang X, Bales RW. Metastatic malignant melanoma from unknown origin to the jejunum: a case report. Consultant. Published online August 21, 2024. doi:10.25270/con.2024.08.000005
To read the full Photoclinic case report, visit: https://www.consultant360.com/photoclinic/metastatic-malignant-melanoma-unknown-origin-jejunum-case-report
Nandini N. Patel, OMS III, is a third-year medical student at Ohio University Heritage College of Osteopathic Medicine (Cleveland, OH).
TRANSCRIPTION:
Nandini N. Patel, OMS III: Hi, my name is Nandini Patel, and I'm a third-year medical student at Ohio University College of Osteopathic Medicine.
Consultant360: How did you approach analyzing and writing about this case after the patient’s treatment was completed? Were there any insights you gained from reviewing the patient’s continuum of care?
Nandini N. Patel: As a brief introduction, this is a case study of a 66-year-old male patient with no prior history of melanoma nor family history, who presented to the emergency department with abdominal pain and cramping, and was diagnosed with stage four melanoma. And because most of my team and I were involved after the patient had completed treatment, we had the advantage of seeing the full timeline at once. Our approach involved reviewing each stage of care to understand how symptoms, diagnostic workups, and treatment course contributed to the patient's overall outcome. We reviewed the medical history and gave special attention to symptoms related to the gastrointestinal tract such as abdominal pain and cramping. And to do this, we use the EPiC database to gather lab results, pathology reports, and any imaging studies that were done throughout the patient's continuum of care. And throughout this process, one of the most important insights we gained was learning how effective the immunotherapy regimen was in treating a case of advanced melanoma that did not involve the skin. The patient's response to nivolumab and the ipilimumab emphasized how checkpoint inhibitors can help us achieve remission. In addition, observing any adverse effects like pneumonitis and orthopnea highlighted how balancing treatment with the management of side effects is very important, especially when it came to maintaining the patient's overall quality of life.
C360: There were numerous differential diagnoses listed as possibilities for what the patient could have had. What was the key piece of information or datapoint that confirmed your diagnosis? Was there something specific in your findings that pointed to this being the diagnosis?
Nandini N. Patel: So, when this patient first presented to the emergency department, there was a broad list of differentials. An immunohistochemical profile of the tumor cells was crucial in confirming the official diagnosis of melanoma. The cells were strongly positive for the markers, SOX10, S100, HMB-45, and Melan-A, which are all classic markers for melanoma. And especially because primary melanoma in the GI tract is so rare and there were no cutaneous signs of the cancer, differentiating this condition from other possible diagnoses such as adenocarcinomas, lymphomas, or even benign lesions would've been much more challenging without getting this immunohistochemical profile.
C360: In your paper, you noted that diagnosing primary intestinal melanoma is challenging. What is the most challenging aspect of this diagnosis and what was the process for overcoming that challenge?
Nandini N. Patel: Diagnosing primary intestinal melanoma is relatively challenging because you have to be able to diagnose or identify this rare condition that presents with nonspecific symptoms. Primary melanoma usually occurs in the skin where it presents with visible pigmentation changes that help us recognize it early on. On the other hand, primary intestinal melanoma in this case presented more vaguely with symptoms like abdominal pain, vomiting, and shortness of breath, which are all common in many gastrointestinal disorders. And a challenge with this is that it can lead to a broad list of differentials that can delay our diagnosis. But to overcome this, the approach in this case was to narrow down that list through imaging, biopsy, and immunohistochemistry. Imaging studies revealed ulcerated masses in the jejunum as well as enlarged mesenteric lymph nodes, which both raised suspicion of malignancy. Ultimately, though, the official diagnosis was made with the help of biopsy and the immunohistochemical analysis.
C360: For clinicians, what would you say is an effective strategy when determining a diagnosis when there are a number of differential diagnoses?
Nandini N. Patel: An effective strategy for clinicians when faced with multiple differential diagnoses, is to use a systematic approach that prioritizes both clinical presentation and diagnostic testing. First, it's important to consider the most common conditions that match the patient's symptoms, but to keep an open mind about rare possibilities, start with a thorough history and physical exam to help narrow down the different possibilities and take note of any risk factors, symptoms, and also family history, which is important. Then you can use targeted diagnostic testing starting with non-invasive imaging and laboratory studies. And if the findings are still inconclusive, you would use more specific testing, such as biopsies and immunohistochemical analysis, as we did in our case. In our patient, initial imaging suggested malignancy, but the specific diagnosis of melanoma was only confirmed through the histopathology and immunohistochemistry.
C360: In your conclusion of the case, you state the importance of multidisciplinary management and early detection in order to prevent complications of disease. How did a multidisciplinary team affect the overall care and management of the patient? And then further, did you collaborate with other specialists? And if so, how?
Nandini N. Patel: A multidisciplinary approach was very important in the care of this patient due to the rarity of primary intestinal melanoma. Collaboration with multiple specialists helped us create a well-rounded diagnostic and treatment plan. The patient's team included radiologists, pathologists, and oncologists, as well as the patient's primary care physician. The radiologist provided expertise in interpreting the CT imaging, which identified the jujunal masses and helped us assess for any metastasis. The pathologist helped confirm the diagnosis with immunohistochemical staining that identified the melanoma specific markers. The patient's oncologist developed a treatment plan that included the checkpoint inhibitors—nivolumab and ipilimumab—and they closely monitor the patient's response to therapy and also adjusted treatment based on any side effects such as pneumonitis. And lastly, manage that with corticosteroids when needed.
C360: What did you learn from this case and what can other clinicians take away from it?
Nandini N. Patel: One of the most important lessons that I learned is maintaining a broad differential diagnosis when a patient presents with nonspecific symptoms, especially when their initial assessment points towards more common GI disorders. Ultimately, it's important to understand that rare conditions can occur with common symptoms. Another insight that we had was understanding the critical role of immunohistochemistry and diagnosing rare cancers accurately. These markers were essential in identifying this case as melanoma, which would've been challenging to confirm otherwise. And this highlights the need for early biopsy and the use of specialized stating techniques, especially when there are ambiguous imaging findings. And patients should be referred for melanoma biopsy using evidence-based guidelines. Pigmented lesions on the skin that are suspicious for melanoma should be characterized using the A-B-C-D-E rule, which assesses shape, color, diameter, borders, and the overall evolving nature of the lesion. And patients should consult their physicians if any of those changes are noted. And lastly, collaborating with pathologists, radiologists, and the oncologists ensured a precise and timely diagnosis, ultimately improving patient outcomes.
Nandini N. Patel: Well, I'd like to thank my mentor, Dr Bales for his continuous mentorship and guidance, as well as Rei Kola and Dr Zang for their support with this project. I'm also grateful for Ohio University College of Osteopathic Medicine and its affiliation with the Cleveland Clinic for providing me with the opportunities to learn and to grow. And lastly, I want to thank Consultant for publishing this report and inviting me to share this case