Thread by @lsatremeloy

My 3 year old daughter Lila was recently diagnosed with a VERY rare and aggressive type of #leukemia.

👉 It’s potentially treatment resistant… AND

👉 Requires a bone marrow transplant.

A🧵with all the details we have so far 👇

Please @Twitter help me save my little girl.

First, some background:

👉 A month ago, Lila was diagnosed with “acute undifferentiated leukemia” (AUL) by her docs at @ChildrensLA

👉 Last week, we found an unrelated marrow donor who’s a perfect “10/10” match (thx to @BeTheMatch ) and they have agreed to donate. 😭

👉 But just yesterday, we learned Lila’s first cycle of chemo failed. 🥺

Before Lila can get the transplant, we have to get her into remission first.

@ChildrensLA has some of the world’s best leukemia experts…

But given the peculiarities of Lila's disease, we are searching for #pediatric #hematology #oncology experts around the world to humbly ask for help 🙏

I almost never post on Twitter, but given the circumstances, we’re trying every available tool. 🤷‍♂️

Here is my best summary of what we’ve done, what we know (and don’t know) so far 👇

(forgive my mistakes, I am just a lay-dad doing his best)

👉 Diagnosis was based on flow cytometry of two bone marrow biopsies that show expression of:

CD71
CD36
CD117 (with minor ECAD expression by IHC)

She's negative for CD45, TDT, CD34, CD1a, CD3, CD30, CD7 as well as other T-cell and B-cell, and myeloid markers.

👉 On Feb 17, Lila started the FLAG-IDA (fludarabine, cytarabine, idarubicin, GCSF) chemo protocol, which has likely failed.

👉 On March 19, flow analysis of peripheral blood identified circulating blasts with CD expression consistent with previous biopsies.

It's worth noting that Lila thankfully experienced no significant toxicity/symptoms from chemo (apart from some mild enterocolitis).

We’ve sent material from original biopsies for genetic testing. Here is a summary of the results 👇

AML/MDS FISH PANEL:

👉 Negative for rearrangements involving KMT2A, RPN1-MECOM, BCR-ABL1, PML-RARA or CBFB

👉 Loss of KMT2A in 88.5% of cells and gain of RARA in 8% of cells

👉 P53 is positive in approx 20-30% of cells with deletion of TP53 in 9% of cells.

@OncoKids CANCER PANEL:

👉 "Strong Clinical Significance" of ARID1A with 30% allele frequency, so unclear if driving leukemogenesis.

👉 “Strong Clinical Significance” of NRAS and KRAS with 6.5% and 4.8% respective allele frequency.

👉 "Unknown Significance" of TCF3 with 50% allele frequency, which "has not been reported in tumor samples or large population studies"

CHROMOSOMAL MICROARRAY ANALYSIS:

➕ Copy number gains in 17p11.2q253 and 18p11.32p11.31

➖ Copy number losses in 1p3322.1, 11q13.4q24.2, 11q24.3q25 and 17p13.3p11.2

The pathologist’s interpretation of CMA results is:

👉 Copy number loss 11q and 17p are recurrent but non-specific abnormalities in hematologic neoplasms

👉 The role of 18p11 gain and 11q24 loss in leukemogenesis is uncertain.

RNA SEQUENCING

👉 A NFIA/CBFA2T2 fusion gene, which does not currently exist in the AUL/AML literature

Our doctors don’t know what to make of this RNA abnormality and whether it’s potentially driving leukemogenesis.

Here’s what we’re planning to do next:

👉 Post-chemo marrow biopsy to evaluate disease progression and get marrow for additional testing

👉 Next Generation Sequencing Myeloid Panel

👉 Cancer Drug Sensitivity Test - from @UW

👉 Flow BLC2 test to evaluate potential effectiveness of @VenclextaHCP

👉 PET scan to triple check for no solid tumors

👉.... ????

If you are a leukemia expert or researcher who's willing to help...

OR you know one who MIGHT be willing to help...

Please DM me and I will share all pathology reports with you.

Please help signal boost this thread -- you never know who might be able to help!

🙏❤️