host: knowing you have cancer istraumatic enough, not knowing its origin is heart-wrenching.cancer of unknown origin or diagnostic ambiguity is one ofmodern medicine's most challenging mysteries. but,thanks to advancements in testing, this mystery isbecoming easier to solve. i'm ereka vetrini. join us as weexamine this timely topic on a special edition of accesshealth: classifying cancer. (music)dr. greco speaking: you need to know what type of cancera patient has to give them the
optimal therapy. today, by usingall the technology we have available to us we can determinethe type of cancer that a patient with cup has 90 pluspercent of the time. cheryl prevor: my name is dr. cherylprevor and i'm an investigative analyst in themedical field with a specific focus on working with cancerpatients. when someone is diagnosed with any cancer, itbecomes a life or death issue. what i found is that a diagnosisof cancer is an extremely traumatic event. navigatingcancer is as much of a
psychological journey as it is amedical one. that's true for the patient, families, and forthe physicians. host: it's hard enough treating a diseaseas ominous as cancer. but treatment without knowledge oforigin is a challenge both doctor and patient never want toface. dr. tony greco sheds light on the dilemma of diagnosticambiguity. dr. anthony greco: i'm dr. anthony greco, i'm amedical oncologist at the sarah cannon cancer center and sarahcannon research institute. i've been here for 25 years. over theyears i've specialized in
several cancer types but morerecently patients who have advanced cancer of unknownprimary site. cancer of unknown primary site represents apatient who has spread of cancer. this is how cancersbecome very serious.they spread, or metastasize. we know now thatthese primary sites or where the cancer's originated from arejust too small to find. diagnosticambiguity means that we're unsure of the diagnoses - it'sambiguous. we know they have cancer, we biopsy the metastasesbut we can't find the site of
origin or what we call theanatomical primary site. cheryl: my first-hand knowledge abouthow critical a proper diagnosis in cancer, really stems from myexperience with my own father, who was diagnosed with a cancerthat was quite ambiguous. there was no certainty on thediagnosis. the pathologist report said it could be, youknow, colon - it could be stomach - it could bepancreatic. we knew it was gastrointestinal oriented, butwe really didn't know what it was, but it was very serious.dr. greco: most of the time we
know where that cancer has comefrom, for instance the lung, often this will require a biopsyor obtaining a small amount of tissue, so a pathologist canevaluate and say, "well this came out of the lung, this isconsistent with a lung cancer." so those are known cancers,that's how most people when they develop cancer, that's how theypresent and we know what they are. cheryl: the typical processfor the way i evaluate cases, is either i'm found personallyby patients or their family; usually those patients and theirfamily are struggling with
either their general care, thediagnoses of cancer, deciding what treatments to get, andlooking for other alternatives that may or may not have beenoffered by their oncologist. dr. greco: in patients with unknownprimary cancer, they have symptoms too, many differenttypes and we evaluate them and we find the metastasizes orspread of the their cancer, but we cannot find where the cancerstarted or arose from, despite multiple testing. cheryl: mypersonal experience when someone is diagnosed with a cancer ofunknown primary is absolute
devastation. we are human beingsand we need to label things, we need to be able to say to ourfriends and our family, you know, bob has this kind ofcancer. we need to reach out to supportive communities inperson or online, and express this is what's happening tomyself or my loved one. dr. greco: determining the type ofcancer that a patient has can be important for a number ofreasons. certainly it's important if one is determiningwhat type of treatment to give the patient, but it's alsoimportant in determining the
type of cancer present in termsof estimating the prognosis, and in some instances is importantfor the family. cheryl: one of the most critical moments when afamily member is diagnosed with cancer, is that experience ofsitting with the physician and having them explain the diseaseand discussing, you know, the odds of treatment, and havingactual discussions about possible mortality. dr. greco:treatment for various types of cancers, vary considerably.they're different. so knowing the cancer type is critical,that should be the goal of the
physician to determine thecancer type. that has been the goal of physicians and patientswho've had cup for years. the problem is they they haven'tbeen able to determine it because our technology was notsophisticated and accurate enough up until this time todetermine that. host: coming up after the break a scientifictest changing the paradigm for pathologists and oncologists,and most importantly, for patients and their families.stay with us. dr. katherine schnabel: you know, we're in anexciting time of diagnosis of
cancer, we're in a phase calledprecision medicine and part of that is providing, find aresolution of diagnosis. host: with today's technologyand the arrival of diagnostic testing,thousands of cancer patients and experts now have access to a newprogressive test. a test so accurate, more than 25,000patients and nearly 10,000 cancer experts use it todetermine where a particular cancer originates, and maybe,just maybe save a life. here's more on the story. dr. catherineschnabel: my name is catherine
schnabel and i'm the chiefscientific officer of biotheranostics, and i've hadthe privilege of serving cancer patients by myrole for the last 6 years. you know, we're in an exciting timeof diagnosis of cancer. we're in a phase called precisionmedicine and part of that is providing, find a resolution ofdiagnosis. and, we're now in a stage where we're actuallylooking at the molecular and genomic features of the cancerto enable better decision-making, andnot only diagnosis but obviously
treatment for patients. dr.greco: the ability to diagnose the type of cancer that apatient with cup has is extremely important. it'schanged the whole field of what we, how we manage thesepatients. previously we used to treat most patients with cup,with what we term "shot-gun" therapy. we used one regimen ofchemotherapy for all the patients. it can help somepatients but it was clearly inadequate, it wasn't treatingthe patient's specifically for the type of cancer they had, itwas treating them all the same.
and, now we have so manytreatments, some are targeted, precision treatments based onmolecular abnormalities in the cancer cells and it dependsfirst on knowing the type of cancer a patient has beforeembarking on the specific treatment for their cancer.cheryl: when people are diagnosed with cancer, moreoften than not it is done through an educated best guessand patients are told a certain cancer but maybe the details arenot specific; that ambiguity can have a devastating effect on allpatients. dr. greco: many times
when we have a patient with cup,we put all the information together and even though we'renot sure where the cancer actually came from or what typeof cancer it is, we make a guess; we make that guess ingood faith, because we want to try to give the patient sometherapy that hopefully will help them. cheryl: with my father,being diagnosed with a cancer, but having absolutely nopositive biopsy for pancreatic cancer; i was enormouslyuncomfortable with the uncertainty, i felt that weshould gather more information.
my father chose to do treatmentand he has every right to make that decision, but i felt thatif he could find out exactly what it is, at least he couldmake a decision for purposeful treatment. dr. greco: now wedon't need to make the guess as often as we used to because wehave the diagnostic technology to determine precisely andaccurately what type of cancer that patient has. no longer needto guess, and we can then treat the patient for the cancer theyhave. dr. schnabel: cancer type id is a pioneering andunique diagnostic test that we
developed several years ago atbiotheranostics. the test is performed on a patients' tumortissue and it looks specifically at the expression of 92 genes torender a molecular diagnosis which can be used to providemore accuracy to cancer cases that are difficult to diagnoseor clinically challenging. dr. greco: physicians should orderthe cancer type id when they are unclear about a single diagnosisin a patient who has metastatic cancer or advanced cancer. ifthey're uncertain of a single diagnosis they should order thecancer type id to help determine
the single diagnosis which wouldthen help determine the appropriate treatment for thatindividual patient. dr. schnabel: the significance ofcancer type id and this level of science is that it provides ahigher resolution view of the patients underlyingtumor biology by providing this increased resolutionor molecular portrait of the tumor it's improving patientslives by allowing them to have an accurate diagnosis andto enable physicians to feel confident about the therapiesthat they're selecting for
their patients. the otherbenefit of this test is that it requires very limited materialto actually provide that molecular result and in the erawhere there is less invasive biopsy methods that are beingimplemented, this becomes increasingly important. dr.greco: there's considerable published information showingthat this test is about 90 percent accurate in determiningthe cancer type, both in those with known cancers, which theknown cancers serve as a gold standard to validate the cancertype id and in those patients
with unknown primary site. ourresearch program decided to use the cancer type id starting in2008 because we felt that it was a superior test for a number ofdifferent reasons. the information giving us confidencein the molecular cancer classifier assay, cancer type idcomes from thousands of patients who've had the test, it'saccuracy in known cancer type, the extensive study done inpatients with cup, and the clinical application inperspective studies and several retrospective studies where youlook back at patients who were
treated based on the cancer typeid diagnoses. dr. schnabel: this tool is utilized by bothpathologists and oncologists. for the pathologists who are thediagnosticians of the cancer case this is a molecularcompliment to their standard workup. for the oncologist,who's the point of integration of determining which therapy toapply to the patient, this is also an additional piece of datathat they can use to fortify the clinical picture that they haveand apply more accurately the treatment of choice. dr. greco:in the past four decades
we've come from not knowing whattype of cancer a patient with cup had, virtually ever - to nothaving any therapies which helped the overwhelmingmajority of patients - to an era where we can diagnose some ofthe patients, treat some of them, but not very many - to amore modern era now where we can diagnose the type of cancer thatthe patient actually has, with specialized pathology andmolecular testing and therefore treat the patients for what theyactually have and give them the same prognosis as their cohortsor other patients with known
cancers that have spread ormetastasized. host: coming up - the power of a precisediagnosis, benefits of timely testing, and spreading the wordso cancer patients everywhere, get a fighting chance.host: for cancer patients, getting the tools needed tosurvive one more minute, hour, or day, ispriority number one. accurate diagnosis is perhaps the mostvital tool in prolonging time and nurturing hope for better,cancer-free living. that's why getting the word out about testslike cancer-type i-d is so
crucial. cheryl: so theoncologist ultimately has the hierarchy to deal with the lifeand death issues and oftentimes they make decisions based onwhat is in the patient's best interest in terms of comfort.the longer a diagnosis is going on, the more advanced the cancer- oftentimes they make a decision saying i'm going tomake it as comfortable for this patient as possible. thisis not always acceptable to the family. but the physician,the oncologist really has no means, they don't have the timeto anticipate how the family
will feel about this. dr. greco:this information gives them some reassurance, well now weknow what type of cancer it is. it takes some of the fear, notall of it, out of having this diagnosis. i think it helps alot of people. sometimes it helps a lot more because we'vedetermined that the patient has a very treatable cancer type andthe prognosis will be better. other times we determine thepatient has a less treatable cancer type and the prognoseswill be worse, but at least the patient knows where they standand their family knows where
they stand and it's veryimportant. dr. schnabel: that also impacts your family membersbecause they're finding that patients with cancer of unknownprimaries, their families actually have an increasedincidents of cancer. so if you don't understand what yourdiagnosis is of cancer it has wide spread implications, notonly from the clinical perspective but certainly fromthe personal perspective. cheryl: for my father, what thecancer type id did, it actually clarified six, seven months ofuncertainty. at the end of the
day, no matter where my fatherwent after this moment where he understood that he did not havepancreatic cancer, or the family understood. at the end of theday, we know now what my father went through. making peace withwhat your loved one went through is often the most healing thingyou can do. i don't know how you would even do that if you don'tknow what your loved one died of; how could you ever get thatclosure? dr. schnabel: if you are confident about the type ofcancer your family member has been diagnosed with, thatinforms family members about
predisposition and aboutprognosis, and can be managed very differently with thatclearer picture of what a family member's cancer type was.cheryl: i have a 10 year old daughter, i want her to know, iwant her to know what her grandfather died of, i want herchildren to know. (music)cheryl: finally understanding, you know,without a doubt where the origin of my father's cancer came from,helps me, it's comforting, because i want to know my familylineage. i have a 10 year old
grandfather died of, i want herchildren to know. dr. greco: the goal of oncologists orphysicians in general is to help people. when patients presentwith cancer and we can't determine precisely where itcame from or the type it is, it's the goal of their physicianto use all available technology that's reasonable to determinewhat type of cancer an individual patient has. dr.schnabel: i think molecular tools such as cancer type id arethe gateway to individualizing care in precision medicine and ithink it's important for both
physicians and patients to knowthat this type of technology is available to them. cheryl: thetruth is, end of the day, people do get cancer, they do. it is atragedy that happens in most families and if you can avoidthe ambiguity, uncertainty. i mean it's like the worst wordin the world when it comes to being sick, that we don't knowexactly. if you can avoid that, you can save lives, you can savefamilies, you can bring people together and you can make areally, really miserable experience, maybe just a littlemore bearable. host: we want to
thank all of our dedicateddoctors and especially cheryl for sharing her personal story.and we also want to extend best wishes for the very best inhealth to each and every cancer patient hoping for a better day.for more information on cancer type id, go to cancertypeid.com.and, of course you can log onto our website accesshealth.tv.(music)
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