TY - JOUR
T1 - Renal Cell Carcinoma Unclassified with Medullary Phenotype in a Patient with Neurofibromatosis Type 2
AU - Sarkar, Sanila
AU - Throckmorton, Whitney
AU - Bingham, Racheal
AU - Msaouel, Pavlos
AU - Genovese, Giannicola
AU - Slopis, John
AU - Rao, Priya
AU - Sadighi, Zsila
AU - Herzog, Cynthia E.
N1 - Funding Information:
This study was supported in part by the Cancer Center Support Grant to MDACC (grant P30 CA016672) from the National Cancer Institute. Pavlos Msaouel is supported by a Career Development Award by the American Society of Clinical Oncology, a Research Award by KCCure, the MD Anderson Khalifa Scholar Award, the Andrew Sabin Family Foundation Fellowship, a Translational Research Partnership Award (KC200096P1) by the United States Department of Defense, an Advanced Discovery Award by the Kidney Cancer Association, a Translational Research Award by the V Foundation, the MD Anderson Physician-Scientist Award, and philanthropic donations by the family of Mike and Mary Allen.
Publisher Copyright:
© 2023 by the authors.
PY - 2023/3
Y1 - 2023/3
N2 - We present, to our knowledge, the first reported case of germline neurofibromatosis Type 2 (NF2) associated with renal cell carcinoma unclassified with medullary phenotype (RCCU-MP) with somatic loss by immunohistochemistry of the SMARCB1 tumor suppressor gene located centromeric to NF2 on chromosome 22q. Our patient is a 15-year-old with germline neurofibromatosis Type 2 (NF2) confirmed by pathogenic mutation of c.-854-??46+??deletion. Her NF2 history is positive for a right optic nerve sheath meningioma, CNIII schwannoma requiring radiation therapy and post gross total resection of right frontotemporal anaplastic meningioma followed by radiation. At age 15 she developed new onset weight loss and abdominal pain due to RCCU-MP. Hemoglobin electrophoresis was negative for sickle hemoglobinopathy. Chemotherapy (cisplatin, gemcitabine and paclitaxel) was initiated followed by radical resection. Given the unique renal pathology of a high grade malignancy with loss of SMARCB1 expression via immunohistochemistry, and history of meningioma with MLH1 loss of expression and retained expression of PMS2, MSH2 and MSH6, further germline genetic testing was sent for SMARCB1 and mismatch repair syndromes. Germline testing was negative for mutation in SMARCB1. Therefore, this is the first reported case of RCCU-MP associated with germline NF2 mutation. This suggests the importance of closer surveillance in the adolescent and young adult population with NF2 with any suspicious findings of malignancy outside of the usual scope of practice with NF2.
AB - We present, to our knowledge, the first reported case of germline neurofibromatosis Type 2 (NF2) associated with renal cell carcinoma unclassified with medullary phenotype (RCCU-MP) with somatic loss by immunohistochemistry of the SMARCB1 tumor suppressor gene located centromeric to NF2 on chromosome 22q. Our patient is a 15-year-old with germline neurofibromatosis Type 2 (NF2) confirmed by pathogenic mutation of c.-854-??46+??deletion. Her NF2 history is positive for a right optic nerve sheath meningioma, CNIII schwannoma requiring radiation therapy and post gross total resection of right frontotemporal anaplastic meningioma followed by radiation. At age 15 she developed new onset weight loss and abdominal pain due to RCCU-MP. Hemoglobin electrophoresis was negative for sickle hemoglobinopathy. Chemotherapy (cisplatin, gemcitabine and paclitaxel) was initiated followed by radical resection. Given the unique renal pathology of a high grade malignancy with loss of SMARCB1 expression via immunohistochemistry, and history of meningioma with MLH1 loss of expression and retained expression of PMS2, MSH2 and MSH6, further germline genetic testing was sent for SMARCB1 and mismatch repair syndromes. Germline testing was negative for mutation in SMARCB1. Therefore, this is the first reported case of RCCU-MP associated with germline NF2 mutation. This suggests the importance of closer surveillance in the adolescent and young adult population with NF2 with any suspicious findings of malignancy outside of the usual scope of practice with NF2.
KW - NF2
KW - medullary phenotype
KW - renal cell carcinoma
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U2 - 10.3390/curroncol30030255
DO - 10.3390/curroncol30030255
M3 - Article
C2 - 36975468
AN - SCOPUS:85151002539
SN - 1198-0052
VL - 30
SP - 3355
EP - 3365
JO - Current Oncology
JF - Current Oncology
IS - 3
ER -