Identification of BRAF, CCND1, and MYC mutations in a patient with multiple primary malignant tumors: a case report and review of the literature.

Publisher: BioMed Central Country of Publication: England NLM ID: 101170544 Publication Model: Electronic Cited Medium: Internet ISSN: 1477-7819 (Electronic) Linking ISSN: 14777819 NLM ISO Abbreviation: World J Surg Oncol Subsets: MEDLINE

Original Publication: London : BioMed Central, 2003-

Carcinoma, Renal Cell* ; Neoplasms, Multiple Primary* ; Carcinoma* ; Nasopharyngeal Neoplasms* ; Kidney Neoplasms* ; Thyroid Neoplasms*; Male ; Humans ; Middle Aged ; Proto-Oncogene Proteins B-raf ; Positron Emission Tomography Computed Tomography ; Thyroid Cancer, Papillary ; Mutation ; Cyclin D1 ; Melanoma, Cutaneous Malignant

Background: Multiple primary malignant tumors (MPMTs), usually associated with worse malignant behavior and prognosis comparing to a single primary tumor, and have recently been found to have an increasing incidence globally. However, the pathogenesis of MPMTs remains to be clarified. Here, we report a unique case of the coexistence of malignant melanoma (MM), papillary thyroid carcinoma (PTC), and clear-cell renal cell carcinoma (ccRCC) along with our perceptions on its pathogenesis.
Case Presentation: The case reported is of a 59-year-old male patient with unilateral nasal obstruction as well as a renal occupying lesion. Positron emission tomography-computed tomography (PET-CT) revealed a palpable mass of 32 × 30 mm on the posterior and left walls of the nasopharynx. In addition, an isodense nodule was observed in the right superior renal pole, approximately 25 mm in diameter, as well as a slightly hypodense shadow in the right leaf of the thyroid, approximately 13 mm in diameter. Nasal endoscopy and magnetic resonance imaging (MRI) confirmed the existence of a nasopharyngeal neoplasm. Afterward, biopsies of the nasopharyngeal neoplasm, thyroid gland and kidney were performed, and the patient was diagnosed with MM, PTC, and ccRCC according to the pathological and immunohistochemical results. Moreover, mutation of BRAF ^V600E was detected in bilateral thyroid tissues, and amplification of both CCND1 and MYC oncogenes were detected in the nasopharyngeal melanoma. After chemotherapy, the patient is now in good overall condition.
Conclusions: This is the first reported case of a patient with the co-existence of MM, PTC and ccRCC undergoing chemotherapy with a favorable prognosis. Herein, we suggest that such a combination may be non-random, as for mutation of BRAF ^V600E might account for the co-occurrence of PTC and MM, while mutations of CCND1 and MYC cause the coexistence of MM and ccRCC. This finding may provide valuable guidance on the diagnosis and treatment of such disease, as well as the prevention of developing a second or third tumor for patients with a single primary.
(© 2023. The Author(s).)

Cancers (Basel). 2022 Dec 25;15(1):. (PMID: 36612120)
Pigment Cell Melanoma Res. 2010 Feb;23(1):27-40. (PMID: 19995375)
Melanoma Res. 2016 Dec;26(6):545-550. (PMID: 27623135)
JAMA Otolaryngol Head Neck Surg. 2014 May;140(5):423-7. (PMID: 24626334)
Dermatol Online J. 2006 Feb 28;12(2):1. (PMID: 16638394)
Med Oncol. 2017 Feb;34(2):26. (PMID: 28074351)
Dis Colon Rectum. 2006 Oct;49(10 Suppl):S30-6. (PMID: 17106813)
J Mol Med (Berl). 2016 Dec;94(12):1313-1326. (PMID: 27695879)
J Cell Biol. 1993 Sep;122(5):1089-101. (PMID: 8394846)
J Biol Chem. 1998 Jul 17;273(29):17983-6. (PMID: 9660747)
J Natl Cancer Inst. 2003 Apr 16;95(8):625-7. (PMID: 12697856)
Microbiol Mol Biol Rev. 2001 Dec;65(4):570-94, table of contents. (PMID: 11729264)
Genes Dev. 2000 Feb 1;14(3):301-12. (PMID: 10673502)
Br J Cancer. 2001 Sep 14;85(6):836-44. (PMID: 11556834)
J Clin Aesthet Dermatol. 2019 Sep;12(9):39-41. (PMID: 31641417)
Nat Rev Urol. 2010 May;7(5):277-85. (PMID: 20448661)
Proc Natl Acad Sci U S A. 1993 Jul 1;90(13):5889-92. (PMID: 8392180)
Cancer. 1961 Mar-Apr;14:231-7. (PMID: 13771653)
Nature. 2005 Feb 17;433(7027):764-9. (PMID: 15716956)
Ann Dermatol. 2010 Aug;22(3):370-2. (PMID: 20711283)
Curr Opin Cell Biol. 1997 Apr;9(2):180-6. (PMID: 9069255)
J Biol Chem. 1993 Jul 15;268(20):14553-6. (PMID: 8325833)
Cancer Res. 2003 Apr 1;63(7):1454-7. (PMID: 12670889)
J Cell Biol. 1993 Sep;122(5):1079-88. (PMID: 8394845)
Cell. 1992 Jan 10;68(1):1-2. (PMID: 1531039)
Cancer Res. 2003 Aug 1;63(15):4561-7. (PMID: 12907632)
Cancer. 2010 Dec 15;116(24):5716-24. (PMID: 21218461)
Nature. 2002 Jun 27;417(6892):949-54. (PMID: 12068308)
Cancer. 1999 Nov 15;86(10):2014-20. (PMID: 10570426)
Adv Cancer Res. 1998;74:49-139. (PMID: 9561267)
Mol Cell Biol. 1992 Mar;12(3):915-27. (PMID: 1545823)
J Cell Biol. 2000 Mar 6;148(5):849-56. (PMID: 10704436)
Trends Biochem Sci. 1993 Apr;18(4):128-31. (PMID: 8388132)
Curr Opin Genet Dev. 1994 Feb;4(1):82-9. (PMID: 8193545)
Int J Cancer. 2006 Jan 1;118(1):185-8. (PMID: 16049985)
J Cell Biol. 2005 Jan 3;168(1):35-40. (PMID: 15623583)
Eur Thyroid J. 2012 Oct;1(3):208. (PMID: 24783022)
Cells. 2021 Feb 10;10(2):. (PMID: 33578751)
Int J Dermatol. 2006 May;45(5):529-34. (PMID: 16700785)
Eur J Endocrinol. 2016 Apr;174(4):R117-26. (PMID: 26510840)
Asian Pac J Cancer Prev. 2005 Jan-Mar;6(1):104-6. (PMID: 15801152)
Nature. 2005 Jul 7;436(7047):117-22. (PMID: 16001072)
Nature. 2011 Oct 19;480(7375):94-8. (PMID: 22012259)
Mol Biomed. 2022 Dec 21;3(1):47. (PMID: 36539659)
Biochim Biophys Acta. 1991 May 17;1092(3):350-7. (PMID: 1646641)
ESMO Open. 2017 May 2;2(2):e000172. (PMID: 28761745)
Endocr Relat Cancer. 2006 Dec;13(4):1269-77. (PMID: 17158770)

Keywords: Clear-cell renal cell carcinoma; Genetic linkage; Malignant melanoma; Multiple primary malignant tumors; Papillary thyroid carcinoma

EC 2.7.11.1 (Proto-Oncogene Proteins B-raf)
EC 2.7.11.1 (BRAF protein, human)
0 (CCND1 protein, human)
136601-57-5 (Cyclin D1)

Date Created: 20230524 Date Completed: 20230525 Latest Revision: 20231213

20240829

PMC10207802

10.1186/s12957-023-03036-3

37221610