Acta Scientific Cancer Biology (ASCB) (ISSN: 2582-4473)

Case Report Volume 4 Issue 10

Management of a Refractory EIF3E-RSPO2 Fusion Positive Pilomatrical Cancer Patient with Encyclopedic Tumor Analysis Guided Treatment

Revati Patil, Pradip Devhare, Ajay Srinivasan, Dadasaheb Akolkar*, Darshana Patil, Vineet Datta, Ashwini Ghaisas, Chirantan Bose, Shankar Somashekar, Jinumary John, Sanket Patil, Sachin Apurwa, Navin Srivastava and Rajan Datar

Datar Cancer Genetics Limited, Nasik, India

*Corresponding Author: Dadasaheb Akolkar, Research and Innovation Department, Datar Cancer Genetics Limited, Nasik, India.

Received: July 21, 2020; Published: September 25, 2020

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Abstract

 Pilomatrical carcinoma is an exceedingly rare, locally aggressive malignancy of the hair follicle. It may arise de novo as a solitary lesion or through malignant transformation from its pre-existing benign counterpart, pilomatrixoma. There are no standard treatment guidelines and wide surgical excision of the primary lesion followed by adjuvant radiotherapy remains principal treatment modality. However, high recurrence rate after primary treatment, presence of nodal and systemic metastases which is non-responsive to chemotherapy are major concerns in disease management. Here, we report a case of a 45-year-old female with recurrent pilomatrical carcinoma who opted for personalized treatment guidance based on Encyclopedic Tumor Analysis (ETA). Molecular analysis of tumor tissue identified a novel EIF3E-RSPO2 gene rearrangement, SETD2 mutation and overexpression of VEGFA and RET genes. These molecular alterations along with synchronous chemo-sensitivity assay on tumor derived cells helped in defining combinatorial off label therapy regimens which countered disease progression at each instance and led to the durable regression of primary as well as metastatic lesions. This personalized treatment management strategy described herein effectively addressed advanced, refractory disease for which current Standard of Care (SoC) options were unviable.

Keywords: Merkel Cell Carcinoma (MCC); CD56; CK20; CK7; Synaptophysin

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References

  1. Abd Elazeem MA and Radi DA. “Pilomatrical carcinoma in the thigh: A case report and review of literature”. Journal of Interdisciplinary Histopathology 3 (2016): 70-73.
  2. Bartoš V and Kullová M. “Pilomatrical carcinoma - a case report and review of the literature”. Our Dermatology Online Journal 2 (2018): 170-173.
  3. Xing L., et al. “Facial pilomatrix carcinomas treated with Mohs micrographic surgery”. JAAD Case Reports 3 (2018): 253-255.
  4. Papadakis M., et al. “Pilomatrix carcinoma: More malignant biological behavior than was considered in the past”. Molecular and Clinical Oncology 3 (2017): 415-418.
  5. Herrmann JL., et al. “Pilomatrix carcinoma: 13 new cases and review of the literature with emphasis on predictors of metastasis”. Journal of the American Academy of Dermatology 71 (2014): 38-43.
  6. Sassmannshausen J and Chaffins M. “Pilomatrix carcinoma: A report of a case arising from a previously excised pilomatrixoma and a review of the literature”. Journal of the American Academy of Dermatology 2 (2001): 358-361.
  7. Hardisson D., et al. “Pilomatrix carcinoma: a clinicopathologic study of six cases and review of the literature”. The American Journal of Dermatopathology 23 (2001): 394-401.
  8. Liu CC., et al. “Pilomatrix carcinoma of the head and neck: Case report and literature review”. Head and Neck Oncology 6 (2014): 12.
  9. Nagarkar R., et al. “Encyclopedic tumor analysis for guiding treatment of advanced, broadly refractory cancers: results from the RESILIENT trial”. Oncotarget54 (2019): 5605-5621.
  10. Ranade A., et al. “Adaptive, Iterative, Long-Term Personalized Therapy Management in a Case of Stage IV Refractory NSCLC”. Journal of Personalized Medicine 3 (2019): 34.
  11. Limaye S., et al. “Effect of previous chemotherapy treatments on circulating tumor-associated cells in colorectal cancer”. Journal of Clinical Oncology 4 (2020): 194-194.
  12. Sau P., et al. “Pilomatrix carcinoma”. Cancer 71 (1993): 2493-2498.
  13. Melancon JM., et al. “Management of pilomatrix carcinoma: a case report of successful treatment with mohs micrographic surgery and review of the literature”. Dermatologic Surgery 12 (2011): 1798-1805.
  14. Seshagiri S., et al. “Recurrent R-spondin fusions in colon cancer”. Nature7413 (2012): 660-664.
  15. Sferrazza G., et al. “Nature-derived compounds modulating Wnt/β-catenin pathway: a preventive and therapeutic opportunity in neoplastic diseases”. Acta Pharmaceutica Sinica B (2020).
  16. Chen R., et al. “Histone methyltransferase SETD2: a potential tumor suppressor in solid cancers”. Journal of Cancer 11 (2020): 3349-3356.
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Citation

Citation: Dadasaheb Akolkar., et al. “Management of a Refractory EIF3E-RSPO2 Fusion Positive Pilomatrical Cancer Patient with Encyclopedic Tumor Analysis Guided Treatment". Acta Scientific Cancer Biology 4.10 (2020): 19-23.




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