Rare Disease Day 2024

 

 

February 29th is Rare Disease Day®.

Rare Disease Day is an annual awareness day dedicated to raising the understanding of rare diseases and calling attention to the special challenges faced by patients and the community. Worldwide 300 million people are living with rare diseases.  To learn more about rare diseases and to read stories of those living with rare diseases visit the Rare Disease Day website at https://www.rarediseaseday.org/ .

These gynecologic cancers,

Ovarian cancer
Ovarian carcinosarcoma
Ovarian epithelial cancer
Ovarian germ cell tumor
Ovarian low malignant potential tumor
Ovarian small cell carcinoma

Uterine Carcinosarcoma
Uterine sarcoma
Vaginal cancer

Vulvar cancer

Fallopian tube cancer

Gynandroblastoma

Endometrial stromal sarcoma

Gestational trophoblastic tumor 

Leiomyosarcoma 

are considered RARE by NIH's Genetic and Rare Diseases Information Center. 

In the US, diseases that affect less than 200,000 people are considered rare.In the EU a disease is rare if it affects no more than 50 per 100,000 people.  In 2023, roughly 19,710 women in the US were be diagnosed with Ovarian cancer. Ovarian Cancer is a rare disease!

Why is Rare Disease Day important? 

Research funding to develop screening tests or treatments in rare diseases may be more limited than more common diseases. Due to the limited number of people with the rare diseases accruing to clinical trials is difficult. Trial designs are being modified to better understand rare diseases. As a person with a rare disease, especially people of color and indigenous people, it may be more difficult to find treatment centers and emotional support at diagnosis.Raising awareness through this day is important in the US and globally.

You may find additional information about Rare Disease Day on the  NORD - National Organization for Rare Disorders, Inc website . 

Do you have a rare disease? What would you like others to know about your disease? 

Dee

Every Day is a Blessing!

 

 

SGO 2022 Annual Meeeting - Rare Gyn Cancers

The rare gynecologic cancers were covered in one Master Class on the first day of the SGO Annual meeting. It took me a bit of time getting back into the swing of tweeting from a live meeting - it has been two years- so most of this post will be from the notes I took instead my Tweets.

NE Tumors of the Cervix – Speaker: M. Frumovitz 

I had not heard of Neuroendocrine gynecologic tumors before this first presentation. Many of the trials for neuroendocrine treatments are basket trials. They are looking at Anti-CTLA-4 and Anti-PdL1 treatments. One that is open now uses Cadonilimab. Patients have used groups on Facebook to share information and crowdfund for research projects. There is a neuroendocrine registry at MDAnderson.

 

Uterine Serous Carcinoma – Speaker: A. Nickles-Fader 

Uterine serous carcinoma is different from endometrial carcinoma in their molecular makeup. USC has high genomic instability , low tumor burden and 90% have TP53 mutations. Minimally invasive surgery is OK for USC. Checking for HER-2 is important. Trials using trastuzumab ( HER-2 inhibitor)  have shown an improvement in PFS ( progression free survival) and OS (Overall survival). Other drugs being tested include Pertuzumab with ERBB2 amplification, Wee inbhibitor Adavosertib, tyrokinase inhbitors and PIKC3A inhibitors and antidrug conjugates.

Germ Cell Tumors – Speaker: L. Frazier

Germ cell tumors are most common in adolescent and young adults. Current treatment with Vinblastine,Bleomycin and a platinum drug causes late side effects. Experts formed MaGIC  https://magicconsortium.com/ to work together.  Current trial includes using carboplatin instead of cisplatin.

Low Grade Serous Ovarian Cancer  – Speaker: R. Grisham 

1000 women a year diagnosed with Low Grade Serous OC.Phase II study of enzalutamide in women who were Andogen receptor+  demonstrated PFS of 4.6 months versus HGSOC with PFS of 1.7 months. In the MILO trial ( recurrent LGSOC, binimetinib)  those with a MAPK mutation had improved outcomes.International Consortium for Low Grade Serous Ovarian Cancer  group established. 

 

Vulvar/Vaginal Melanoma – Speaker: D. Vicus 

1 -3% of all melonomas are mucosal and of those 20% are vaginal/vulvar melanoma . Dasatinib trial for recurrent disease had 7.5 months PFS . AntiPDL-1 being studied. February 2022 study AO91903 w/ nivulomab opened. 

Vulvovaginal Melanoma or Vulvar and Vaginal Melanoma: Can These Tumors be Considered The Same? – Speaker: A. Wilhite 

Debate: Should Gynecologic Cancer Trials be Conducted Based on Histology or Molecular Features? (Histology) – Speaker: J. Brown 

GOG established a Rare Tumor committee in 2005. Basket umbrella trials might be best. 

 

Debate: Should Gynecologic Cancer Trials be Conducted Based on Histology or Molecular Features? (Basket) – Speaker: I. Ray-Coquard 

 GOG-3051 Bouquet enrolling 

Innovative Biostatistical Designs for Overcoming Logistical Barriers – Speaker: M. Krailo 

Interesting presentation on using historic data in rare cancer clinical trials. 

 

Clear Cell Carcinoma/ARID1a/PI3K – Speaker: S. Gaillard & L. Shih 

Ovarian Clear Cell Caricinoma is underrepresented in clinical trials.ARID1a deletion and PIK3CA mutation found in OCCC. 

Glutumase over expression is seen in recurrent clear cell.

DNA Methylating Drug Temozolomide Sensitizes ARID1A-Mutated Tumors to PARP Inhibitors – Speaker: T. Wang 

ARID1a knock out cells are more sensitive to Temozolomide and PARPi. 

Bridging the Translational Interface in Rare Ovarian Cancers: Endometrioid Ovarian Cancer – Speaker: C. Gourley & R. Hollis 

Endometrioid OC makes up about 11% of all ovarian cancer cases. University of Edinburgh has set up an ovarian cancer database for endometriod OC.  TP53 and CTNNB1 are most prevelant mutations

Ovarian and Uterine Carcinosarcoma Cell Lines Show Preclinical Sensitivity to BAY 1895344, a Novel Ataxia-Telangiectasia and Rad3-related (ATR) Kinase Inhibitor – D. Manavella 

Carcinosarcomas are agressive cell types. This was a Cell line study using  Elimusertib (BAY-1895344), a selective ATR kinase inhibitor. 40% of ovarian carcinosarcoma have an HRD signature

 

 

The session ended with a panel of patient advocates, J. Ludemann, K. Richardson, S. Madsen, L. Laughlin talking about the needs of patients and additional clinical trials being designed for rare gyn cancers.

Next up Disparities and Equity Research Across Gyn Cancers. That post will be reports of various presentations over the days of the conference. 

Dee