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

Vallera, Raphaelle D. (author)
Baylor Scott & White Hlth, TX USA
Ding, Yanli (author)
Univ Texas Hlth Sci Ctr San Antonio, TX 78229 USA
Hatanpaa, Kimmo J. (author)
Univ Texas Southwestern Med Ctr Dallas, TX USA
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Bishop, Justin A. (author)
Univ Texas Southwestern Med Ctr Dallas, TX USA
Mirfakhraee, Sasan (author)
Univ Texas Southwestern Med Ctr Dallas, TX 75390 USA
Alli, Abdel A. (author)
Univ Florida, FL USA
Tevosian, Sergei G. (author)
Univ Florida, FL 32610 USA
Tabebi, Mouna (author)
Linköpings universitet,Avdelningen för cellbiologi,Medicinska fakulteten,Region Östergötland, Kirurgiska kliniken US
Gimm, Oliver (author)
Linköpings universitet,Avdelningen för kirurgi, ortopedi och onkologi,Medicinska fakulteten,Region Östergötland, Kirurgiska kliniken US
Söderkvist, Peter (author)
Linköpings universitet,Avdelningen för cellbiologi,Medicinska fakulteten,Clinical Genomics Linköping, Science for Life Laboratory
Estrada-Zuniga, Cynthia (author)
Univ Texas Hlth Sci Ctr San Antonio, TX 78229 USA
Dahia, Patricia L. M. (author)
Univ Texas Hlth Sci Ctr San Antonio, TX 78229 USA
Ghayee, Hans K. (author)
Univ Florida, FL 32611 USA
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 (creator_code:org_t)
2022-11-07
2022
English.
In: Frontiers in Endocrinology. - : Frontiers Media SA. - 1664-2392. ; 13
Related links:
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  • Journal article (peer-reviewed)
Abstract Subject headings
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  • 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.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Endokrinologi och diabetes (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Endocrinology and Diabetes (hsv//eng)

Keyword

CHEK2; PNET; PCC; NF1; germline; somatic; tumor

Publication and Content Type

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