‘fi­nal, phys­i­cal gift’

The Detroit News - - Front Page - Cramirez@de­troit­news.com

re­sults of the first study based on Chad’s tu­mor. Their find­ings ap­pear in npj Pre­ci­sion On­col­ogy, an in­ter­na­tional, on­line peer-review jour­nal that pub­lishes sci­en­tific re­search in the study and treat­ment of tu­mors.

Carl Koschmann, a pe­di­atric on­col­o­gist at the univer­sity’s C.S. Mott Chil­dren’s Hos­pi­tal and the study’s lead au­thor, said doc­tors al­ready have been able to use drugs to tar­get PTEN loss in adult breast and prostate can­cer. PTEN is a gene in hu­mans that’s been iden­ti­fied as a tu­mor sup­pres­sor.

The study’s re­searchers were able to an­a­lyze sam­ples from six dif­fer­ent ar­eas of Chad’s tu­mor and found PTEN gene loss in each area. Be­fore the study, he said, PTEN loss wasn’t seen as a ma­jor driver of DIPG.

“We’re now able to say PTEN is a sig­nif­i­cant and early driver of DIPG as well as one we should fo­cus our ef­forts on to find tar­geted treat­ments for,” he said.

“This study strength­ens the case that al­ter­ations of the PTEN gene play a more in­flu­en­tial role than was pre­vi­ously un­der­stood and should be in­cluded in fu­ture se­quenc­ing pan­els for pe­di­atric DIPG. If we find it, it’s some­thing we can hope­fully tar­get with

pre­ci­sion ther­apy.”

Re­searchers ex­pect the study to be the first of sev­eral to be pub­lished as sci­en­tists con­tinue to work to­ward a cure for DIPG, Koschmann said.

“I think where we are right now is in a pe­riod of an ex­plo­sion of more de­tail about th­ese tu­mors,” he said. “This kind of in­for­ma­tion wasn’t avail­able prior to a few years ago. I would say we are very much within shot of changing the bar of how long th­ese kids sur­vive, with the clear goal of cur­ing th­ese tu­mors.”

Ac­cord­ing to the Bethesda, Mary­land-based Michael Mosier De­feat DIPG Foun­da­tion, DIPG is the lead­ing cause of death from pe­di­atric brain tu­mors. Ac­cord­ing to the foun­da­tion, just 10 per­cent of chil­dren with DIPG live for two years fol­low­ing their diag- no­sis. The av­er­age sur­vival time is a mere nine months from di­ag­no­sis.

About 300 to 400 pe­di­atric brain stem tu­mors are di­ag­nosed ev­ery year in the United States, and DIPG ac­counts for more than 75 per­cent of them.

Keith Desserich, founder of the Cincin­nati-based DIPG Col­lab­o­ra­tive, wel­comed the de­vel­op­ment about the C.S. Mott Chil­dren’s Hos­pi­tal study.

“It’s a good sign,” he said. “It re­ally sets up the next steps of how to go about cur­ing DIPG on a big­ger scale.”

Based in Cincin­nati, the col­lab­o­ra­tive is a coali­tion of more than 20 foun­da­tions that sup­port re­search for a cure for DIPG . The col­lab­o­ra­tive funds as much as $2 mil­lion in DIPG re­search ev­ery two years.

Desserich and his wife, Brooke, lost their 6-year-old daugh­ter, Elena, to DIPG in 2007. They also run a non­profit called The Cure Starts Now that be­longs to the DIPG Col­lab­o­ra­tive.

Tammi Carr said Thurs­day the study and re­search are part of Chad’s legacy.

“We just felt that for progress to be made, th­ese do­na­tions have to be made,” she said. “They have to be able to study this tis­sue to learn more about this ter­ri­ble tu­mor. We wanted this to be Chad’s fi­nal, phys­i­cal gift.”

Tammi and Ja­son Carr started the ChadTough Foun­da­tion to sup­port re­search on DIPG and raise aware­ness of the dis­ease. Chad was the youngest of their three sons.

“Chad in­spired peo­ple by just be­ing him,” she said. “Un­for­tu­nately, his role here and his jour­ney was a hard one. But he lived ev­ery day with a smile on his face, and I truly be­lieve his life was to do this, to in­spire peo­ple to change what’s go­ing on. It’s a beau­ti­ful legacy for him, and he de­serves it.”

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