Post #21: Case Study of a Blood Cancer Patient's Journey

March 29th, 2024 with Guest Authors Dr. Nikhil Phadke and Dr. Kavita Khatod

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In today’s post, I cover a whole new area that isn’t about my preventive health journey but rather is a post co-authored with my childhood friend and a renowned global expert in medical diagnostics, Dr. Nikhil Phadke, as well as our friend and colleague, Dr. Kavita Khatod, a medical doctor with a specialization in cancer genetics. The idea behind this post (and future posts if there is enough interest in this topic) is to increase awareness about the role and importance of the various advanced tests that our doctors and hospitals ask us or our loved ones to undergo, when dealing with various cancers, suspected infectious diseases and genetic disorders. I know from personal experience that when my mom went through her battle with cancer, we ran a slew of tests on her which I had no idea why or how they mattered. I also found out later that we should have run some other tests on her that weren’t suggested. Nikhil and I hope that through posts like this, the reader has the ability to have a more meaningful conversation with their doctors or their lab and feels more confident that they are doing all the right things by themselves or the ones they are advocating for. 

Nikhil and I work together at GenePath Diagnostics, a company he founded more than 10 years ago and I joined him about 5 years back, to make high quality diagnostics affordable to everyone that needs them. In addition to creating testing kits for oncology, infectious diseases and genetic disorders, we run a clinical lab in Pune, India, headed by Dr. Khatod, Dr. Ketki Kelkar (an MD in pathology with expertise in hematology) and Dr. Phadke. We have processed about 300,000 patient samples over the years and have been witness to both incredibly heartbreaking stories as well as amazingly inspirational ones. In each post, we will cover one real world case that provides meaningful insight. We hope to convey complex concepts in the simplest possible way without using too much medical jargon.

Today’s story is about a patient diagnosed with chronic myeloid leukemia (CML), a type of cancer that affects the blood and bone marrow (hence sometimes referred to as blood cancer), where the body produces too many abnormal white blood cells, leading to problems with the immune system and other organs. CML occurs when two different genes, BCR and ABL, erroneously fuse together (called BCR-ABL after they fuse); a mistake that can be caused by the body’s own repair mechanism, exposure to radiation or chemicals, viral infections or a genetic predisposition. Depending on where and how the two genes fuse together, the resulting outcomes (also known as transcripts) are classified as Major (most common), Minor, Micro and a number of other less frequently occurring variants. Depending on which of these various transcripts are detected, the disease progression, treatment response and prognosis can vary significantly. This means it is important to identify the specific transcript.

Five years ago, the patient in question (a 70-year-old male) was diagnosed at the hospital he was admitted to, using a test (called FISH), which can be done quickly and can accurately detect the presence of CML but isn’t very good at detecting the specific transcript. To get the more detailed analysis, the sample was sent to GenePath to run a RT-PCR (remember this term for all those that ever did a Covid test?) based BCR-ABL diagnostic panel, which was designed to detect the specific transcript along with the quantification of the number of copies of the transcript. This allowed the doctor to determine if the disease was progressing or regressing. Our in-house assay to detect CML, built in accordance with the Europe Against Cancer Consortium's guidelines, identified the presence of the rare Micro transcript (occurring in ~1% - 2% of all cases)  in the patient's sample. This dictated the specific treatment that the patient needed to be given coupled with ongoing monitoring of the disease through quantitative testing on a quarterly basis. So far so good….

Over the next five years the patient was regularly tested at a different reputed lab, where reports indicated both the Micro AND the Major transcripts. This should have been a red flag because the initial report had clearly indicated the presence of only the Micro transcript (and the existence of both transcripts occurring simultaneously is very unusual). In addition, no quantification was provided for the predominant Micro transcripts. This meant the treatment being provided to the patient was not optimal. We will stay away from getting into all the possible reasons why this could have occurred but what mattered most was that this patient was not being given the right treatment because of an incorrect diagnosis. The treating doctor ultimately decided to retest with us and we confirmed high levels of the Micro transcripts as well as the complete absence of the Major transcripts. This helped realign the patient's treatment strategy to reflect the accurate molecular profile of their disease. 

While this story has (so far) had a positive ending, there are many others that don’t. So what should one take away from this as actions they can take if they find themselves or a loved one in this situation? 

1. We would start by ensuring we understand the basics of the disease we have been identified with. This only happens if you ask questions and have someone with the patience and the ability to explain it to you in simple non-medical terms; that could be your doctor or, if they are busy, then find a friendly expert or your lab’s medical director to explain it to you. Don’t be afraid to ask questions. I often wish I had asked more questions of my mother’s doctors.

2. Make sure you understand what the report is saying. Reports are often written in language that only doctors understand but we believe it is important for the reader to also understand what it says because you have to be able to advocate for yourself. There are a few ways to do it: 

   1. Ask your doctor or your testing lab’s medical director to explain it in simple terms OR 

   2. Run the description through ChatGPT (this may get some eye rolls from a few purists but I frankly find it explains complex concepts in simple terms; it's not like we are asking ChatGPT to diagnose our condition)

We hope you found this blog post useful. If this topic is of interest, let us know so we can use this structure to explain a number of different diseases and the diagnostics that go with it. We will do it using real world patient examples so it brings it to life. If you think we should simplify the language further or make it more medically solid, let us know that as well. 

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