Event
Research for Leila
Date

Ongoing and January 2019 - Dates TBD

Location

San Francisco, Location TBD

Leila

 

PATIENT CASE

Epithelioid Sarcoma

Winter 2019. Leila is the Founder and CEO of SamasourceSamaschool, and LXMI, enterprises that #givework to low-income people around the world using cutting-edge social enterprise models in AI/machine learning, digital freelancing, and clean skincare, respectively. 

In March 2019 Leila was diagnosed with vulvar epithelioid sarcoma, an extremely rare and aggressive cancer. Leila and her medical team are urgently looking for: Potential Clinical Trials, Experimental Immuno-oncology (IO) Therapies,Vaccines, and Other Options for Epithelioid Sarcoma. Please see complete summary below.

Research analysis will be presented to Leila and her medical team. Leading analysis will be featured in our case results.

Leila.png

This case is intended for researchers and medical professionals with advanced experience. Invited researchers will be added to our slack channel and granted immediate access to all data and resources. Past research participants please use short form application.

Five mouse models are available to test investigational therapeutics. Please apply for access.

New cells are available for additional DNA and RNA sequencing.

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Data

 

The following data is available immediately:

  1. Timeline and Summary

  2. Nutritional Supplement Protocol

  3. CT Scans / PET Scans

  4. Genetic / Molecular Oncology Reports

  5. Lab Reports and Doctors Notes

  6. Visit Summaries @ Memorial Sloan Kettering

  7. Somatic Tumor Variants

  8. Neoepitope Prediction and Peptide Selection

  9. MSK-IMPACT Report

  10. Metabolomics Information

  11. Illumina Sequencing 2 x150 bp by CeGat

  12. Raw sequence data in FastQ

  13. Aligned reads in BAM format 

  14. Variant lists in VCF format 

  15. Annotated variant lists

 

DNA and RNA Notes:

  1. "A depth coverage of >120 sequence reads per base was attained for 65.09% of the targeted regions. The records denote that the detection of low frequency variation may be impaired and recommends sequencing a new sample."

  2. "The quality and quantity of the tumor RNA from the sample 05-2019 was not sufficient for RNA sequencing."

  3. We are pursuing additional DNA, RNA and Exome sequencing.

Collaborative Spreadsheet - Please recommend Scientists, Researchers, Doctors etc who could help.

Summary

 

Leila is a 37-year-old NYC-based entrepreneur who was diagnosed with vulvar epithelioid sarcoma in March 2019. She underwent two attempted resections and then a radical hemivulvectomy (left) and pelvic lymph node removal, but the tumor kept growing back aggressively. After 6 weeks on the experimental gene therapy drug Tazemetostat, she presented with lung mets in July. The tumors are high-grade and despite shrinking with two rounds of chemo (doxorubicin/ifosfamide) it spread to a lymph node on her right clavicle in early August. After switching to two rounds of gemcitabine/docetaxel, she developed pneumonitis and bone mets in her ribs and spine, so she is currently on steroids for the inflammation and a new chemotherapy (liposomal doxorubicin) and will soon undergo targeted radiation on the clavicle lymph node which is pressing painfully on the nerves of her jugular vein. In January her docs plan to put her on Opdivo/Yervoy + Votrient combination therapy after a break from the steroids. We don’t have much time based on how quickly this is moving and how chemo-resistant it seems to be. We are looking for the best IO/vaccine/experimental options to pursue which can be developed within the next 6 months, the sooner the better. We are exploring vaccinesCRISPR-edited T-cell therapyHDAC targeting/valproic acid, a GSK-3β inhibitor, other chemo combos, and other IO combos. Leila’s Cancer was sequenced by Memorial Sloan Kettering (MSK) and a German company called Cegat and her primary oncologist is Dr. Mrinal Gounder at MSK. 

 

UPDATE: It turns out Leila may already have a good response to checkpoint inhibitor immunotherapy because of a specific mutation in her cancer: new research indicates that her SMARCB1 mutation causes endogenous retroviruses to become expressed as antigens. The challenge at the moment is that Leila’s T-cells will be depleted due to the course of prednisone she is currently taking to manage the pneumonitis in her lungs. She will have to wait to start treatment with Opdivo/Yervoy until her body has recovered and we need to keep the cancer from grown/spreading too much meantime. We are looking at the best chemo options if her current regimen is not effective and for ideas on how to mitigate the lymphocyte-reducing impact of the steroid treatments.

 

TIMELINE (2019, as of 11/20/19)

  1. Mar: diagnosis: aggressive vulvar proximal-type Epithelioid Sarcoma

  2. Mar-May: Mario Leitao (MSK surgeon) performs full left hemivulvectomy and lymph node resection; Joseph Dayan (MSK surgeon) performs lymph node transplant. Surgery did not result in clear margins.

  3. May-Jun: Mrinal Gounder (MSK med onc) recommends AIM (chemo) or Tazemetostat (experimental drug); Robert Benjamin (MD Anderson med onc) recommends chemo (suggests Gemcitabine combo); Gary Schwartz (Columbia med onc) recommends Tazemetostat; Leila attends ASCO and meets with Gounder/Benjamin/Schwartz who agree to try Tazemetostat first

  4. June-Jul: Leila initiates Tazemetostat (Epizyme) treatment for 6 weeks

  5. Jul/Aug: biopsy confirms lung metastasis; Leila is taken off Tazemetostat and switches to chemo regime #1 (AIM = doxorubicin/Ifosfamide)

  6. Sep: total tumor volume decreases significantly with two rounds of AIM but Leila experiences extreme shoulder pain due to new swollen nodule near clavicle; chemo regime #2 (Gemcitabine/Docetaxel) initiated

  7. Oct: minimal to no responsiveness to new chemo regimen

  8. Nov: recurring low-grade fevers; pneumonitis confirmed; fluid in lungs; PleurX catheter inserted in lungs; bone mets confirmed in vertebrae and ribs. Leila is taken off Gemcitabine/Docetaxel and put on steroids + chemo regime #3 (Liposomal Doxorubicin), multiple rounds of targeted radiation administered on clavicle nodule, max dose of oxygen and fentanyl patch used for pain in the shoulder and lower back/spine

     

**Current Plan for Dec: Discontinue steroid treatments, CT scan and chest Xray to monitor lungs and decide whether to continue Liposomal Doxorubicin or try a different chemo option while the steroids are flushed from the system

 

**Current Plan for Jan: after steroid break in Dec, current plan is for Leila is to begin immunotherapy (Opdivo+Yervoy+/-Votrient). New research indicates her cancer’s SMARCB1 mutation will make her more likely to respond to this course of treatment.

 

**In Progress: Leila is being evaluated for multiple immune accelerator trials as a backup if the January treatment is ineffective, including looking at IO+ OX40/GITR agonists, oncoviral and CAR-T approaches, and CRISPR-edited T-cell therapy

 

**In Progress: mouse modeling has commenced via Champions Oncology (5 mouse lines implanted with cancer cells to test chemo drug combinations - 4-6-month timeline, initiated in Oct)

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