Case report: Two sisters with a germline CHEK2 variant and distinct endocrine neoplasias

Case report : Two sisters with a germline CHEK2 variant and distinct endocrine neoplasias

Funding Agencies|NIGMS [GM114102]; CTSA-IIMS (NIH/NCATS Grant) [UL1TR001120, UL1 TR002645]; Mays Cancer Center NIH-NCI [P30 CA54174]; Alexs Lemonade Stand Foundation; Northwest Mutual/Flashes of Hope; Gatorade Trust
Genetic testing has become the standard of care for many disease states. As a result, physicians treating patients who have tumors often rely on germline genetic testing results for making clinical decisions. Cases of two sisters carrying a germline CHEK2 variant are highlighted whereby possible other genetic drivers were discovered on tumor analysis. CHEK2 (also referred to as CHK2) loss of function has been firmly associated with breast cancer development. In this case report, two siblings with a germline CHEK2 mutation also had distinct endocrine tumors. Pituitary adenoma and pancreatic neuroendocrine tumor (PNET) was found in the first sibling and pheochromocytoma (PCC) discovered in the second sibling. Although pituitary adenomas, PNETs, and PCC have been associated with NF1 gene mutations, the second sister with a PCC did have proven germline CHEK2 with a pathogenic somatic NF1 mutation. We highlight the clinical point that unless the tumor is sequenced, the real driver mutation that is causing the patients tumor may remain unknown.

Ding, YanliUniv Texas Hlth Sci Ctr San Antonio, TX 78229 USA (author)
Hatanpaa, Kimmo J.Univ Texas Southwestern Med Ctr Dallas, TX USA (author)
Bishop, Justin A.Univ Texas Southwestern Med Ctr Dallas, TX USA (author)
Mirfakhraee, SasanUniv Texas Southwestern Med Ctr Dallas, TX 75390 USA (author)
Alli, Abdel A.Univ Florida, FL USA (author)
Tevosian, Sergei G.Univ Florida, FL 32610 USA (author)
Tabebi, MounaLinköpings universitet,Avdelningen för cellbiologi,Medicinska fakulteten,Region Östergötland, Kirurgiska kliniken US(Swepub:liu)mouta10 (author)
Gimm, OliverLinköpings universitet,Avdelningen för kirurgi, ortopedi och onkologi,Medicinska fakulteten,Region Östergötland, Kirurgiska kliniken US(Swepub:liu)oligi51 (author)
Söderkvist, PeterLinköpings universitet,Avdelningen för cellbiologi,Medicinska fakulteten,Clinical Genomics Linköping, Science for Life Laboratory(Swepub:liu)petso43 (author)
Estrada-Zuniga, CynthiaUniv Texas Hlth Sci Ctr San Antonio, TX 78229 USA (author)
Dahia, Patricia L. M.Univ Texas Hlth Sci Ctr San Antonio, TX 78229 USA (author)
Ghayee, Hans K.Univ Florida, FL 32611 USA (author)
Baylor Scott & White Hlth, TX USAUniv Texas Hlth Sci Ctr San Antonio, TX 78229 USA (creator_code:org_t)

By the author/editor: Vallera, Raphael ...; Ding, Yanli; Hatanpaa, Kimmo ...; Bishop, Justin A ...; Mirfakhraee, Sas ...; Alli, Abdel A.; show more...; Tevosian, Sergei ...; Tabebi, Mouna; Gimm, Oliver; Söderkvist, Pete ...; Estrada-Zuniga, ...; Dahia, Patricia ...; Ghayee, Hans K.; show less...

About the subject

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Endocrinology an ...

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