Today I was looking at cases and one of the cytotechs was standing at the door. He dropped of some cases for me that he had screened, and we ended up in a conversation about religion, God, atheism, and one of our mutual friends who was struggling with cancer. All of a sudden he said, "Oh, I'd better go now. Someone needs to talk to you."
One of the techs in the lab in charge of send out tests walked into my office and showed me a cytogenetics report. She didn't have the bone marrow report, so it took me a second to place the marrow in my head - I had signed it out a couple of weeks ago when I was on call. An elderly male with acute myelogenous leukemia. It was a follow-up marrow to assess for residual disease, and because he had some funky cytogenetics in the past, I had ordered them to see if the same mutant clones were still wandering about his marrow. Indeed they were, but there was a twist she pointed out to me.
"Look at his chromosomes. They are female."
I immediately went to a place of "Oh shit, what did I do." I remembered a call I got from one of the geneticists at the national company a few months ago, wondering why a male had female chromosomes and a decidedly masculine name. Turns out I had checked the wrong gender box, so that one was resolved relatively easily. But this one was different.
Sometimes, when patients receive stem cell transplants from a different gender, their chromosomes reflect that. And he certainly had a lot of the same mutant clones that were on previous marrows, so it made sense that this was indeed his marrow. I resolved to her that I would check that out with the clinician (need to do that tomorrow) to make sure. I said, "They obviously weren't to concerned about it, or they would have called me personally. But I am glad you were watching, so we can close the circle."
She said, "One time we got male chromosomes on a female patient being treated for cancer. It didn't make sense. It wasn't the type of cancer that would get a stem cell transplant. Turns out, with a lot of investigation, it was really a male transsexual. He didn't even tell the oncologists his true gender, until we delved into the problem."
Wow. You can fool a lot of people with your appearance. Even yourself, maybe. But you can't change your cytogenetics (unless you get a stem cell transplant, of course - but you need a reason for that expensive endeavor). Molecular testing trumps perceived reality.