Medullary Thyroid Carcinoma

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Retrieved

2021-01-23

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Genes

RET, NTRK1, KRAS, EGFR, FLCN, SST, TP53, CEACAM5, CALCA, BRAF, PSG2, CEACAM3, CEACAM7, POMC, MIR375, S100A12, CHGA, MT1A, VEGFA, SLC5A5, SMUG1, HRAS, CCKBR, MET, KDR, CDKN2C, MEN1, TG, MIR21, PTCH1

RET, NTRK1, KRAS, EGFR, FLCN, SST, TP53, CEACAM5, CALCA, BRAF, PSG2, CEACAM3, CEACAM7, POMC, MIR375, S100A12, CHGA, MT1A, VEGFA, SLC5A5, SMUG1, HRAS, CCKBR, MET, KDR, CDKN2C, MEN1, TG, MIR21, PTCH1, ASCL1, TSHR, EGF, HSPA4, F9, MAP1LC3B, SSTR2, FLT4, GDF1, GLP1R, SHC3, NKX2-1, IL2, CD274, PPP1R13L, SDHD, RNH1, CCDC6, PIK3CG, PIK3CD, PIK3CB, PIK3CA, TAS2R38, CALCR, HSP90AA1, PRL, CFL1, CALCB, PMPCA, MIR224, PTH, MAFK, PDCD4, PTGS2, PTPRF, RAF1, CXCR4, PAX8, HSPA9, LINC01194, PROX1, CDKN2A, MIR34A, CDKN1B, EEF1E1, NOTCH1, CDK5, PTTG1, ZNF197, PCNA, MYCN, COX2, YAP1, SCARB1, MOS, MIR183, CCK, CASR, PROM1, CTNNB1, NOTCH3, VHL, ATF4, MTCO2P12, AGBL2, FOLH1, ZMYND10, TGM2, STAT3, DOCK11, TPPP2, GFRA1, GFRA3, SSTR1, H3P12, TTF1, TSE2, SYP, ERBB2, ATRAID, MIR455, MTOR, ESR2, UBE2N, LAMTOR1, UBE2I, GRAP2, TGFB1, SQSTM1, CDK5R1, H3P9, TGFA, PDCD5, BECN1, LOC110806263, TK1, ZNF22, MIR31, ABCG2, UVRAG, ZGLP1, TWIST1, CND, UPK3B, TPO, MCS+9.7, ARID1A, TP63, TNFRSF10B, TMEM11, MIR222, CDCA5, MRPL28, PDE4DIP, XPO5, C17orf97, NTM, DERL2, DCTN4, MALAT1, P2RY13, KRT20, DGCR8, CHPT1, ACKR3, NANOS2, NDRG2, MIB1, SCO2, CTAG1A, RXFP1, SMYD3, MAPKAP1, FSD1, MCPH1, EHMT1, HNRNPA3, DHDDS, FSD1L, MAP1LC3A, MTDH, NXT1, GIT1, TFF1, MCAT, HNRNPA3P1, SPRY1, MIR182, MERTK, SEC23A, RXFP2, KHDRBS1, MIR17, BLCAP, SUB1, CKAP4, SDS, RNF139, DCTN3, CHP1, PHB2, ZHX2, MIR149, RPIA, TPX2, TBC1D9, MIR144, NUP62, LRIG1, MIR10A, EML4, NAT2, TERT, PRDX2, ESR1, EZH2, FCN2, FLT1, FOS, FOSB, GAST, FUT4, G6PD, GCG, GCHFR, GDNF, GLB1, GLI2, GOT2, GRB2, GRP, GSK3B, GSTP1, GTF2H1, HABP2, HIF1A, HK2, NR4A1, FOXA1, HPGD, HES1, HSPA5, TNC, EPHB2, TYMP, DPP4, CBR1, ALCAM, ALK, ANXA1, APC, APRT, AR, CCND1, BCL2, BDNF, BNIP3, KLF9, CA9, CASP3, TNFRSF8, DYNC1H1, CDK9, CDKN1A, CDKN2B, CLU, SLC31A2, CRH, CTAG1B, CTSK, CYP1A2, DBH, DCK, DCR, SARDH, ICAM1, ID1, IL1B, RNASE3, SLC26A4, ABCB1, PLK1, PPARG, PPP3CA, PPY, MAPK1, MAPK3, PSG5, AKT1, PTGS1, RASA2, RBP3, RPE65, PAX9, RPS6KA3, RREB1, CXCL12, SDHB, SDHC, SLC16A1, SOAT1, SORD, SPN, SPP1, SRC, SSTR5, STK11, PDGFRB, NRAS, IL12A, MEA1, INSL3, INSM1, JUN, JUNB, JUND, KIF5B, KIT, KRT19, LIF, LMNA, LUM, TACSTD2, MDM2, MFAP1, PNP, MIF, MME, MNAT1, MRC1, MSH2, MSN, COX1, NFKB1, NGF, NME1, NODAL, NOS2, NOTCH2, H3P10

Drugs

6-(2-hydroxy-2-methylpropoxy)-4-(6-(6-((6-methoxypyridin-3-yl)methyl)-3,6-diazabicyclo[3.1.1]heptan-3-yl)pyridin-3-yl)pyrazolo[1,5-a]pyridine-3-carbonitrile, Cabozantinib ( CABOMETYX, COMETRIQ ), Cyclopropane-1,1-dicarboxylic acid [4-(6,7-dimethoxy-quinolin-4-yloxy)-phenyl]-amide (4-fluoro-phenyl)-amide, (L)-malate salt, Metastable technetium 99 [99mTc] Demogastrin 2, Sorafenib tosylate ( NEXAVAR ), Thyrotropin alpha ( THYROGEN ), Vandetanib ( CAPRELSA ), entrectinib ( ROZLYTREK )

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Medullary thyroid carcinoma (MTC) is developed from thyroid C cells that secrete calcitonin (CT).

Epidemiology

MTC represents 5-10% of thyroid cancers with a 1-2% incidence in nodular thyroid diseases. Estimated prevalence in the general population is 1/14,300.

Diagnostic methods

Diagnosis is usually made in the presence of a solitary nodule often associated with nodal metastasis and confirmed by a high basal CT level which represents its biological marker. MTC may present as a sporadic form, and in about 30% of cases, as a familial form as a part of multiple endocrine neoplasia (see this term); a dominant inherited disease related to germline mutation of the protooncogene RET. Both biological (CT) and genetic (RET) markers allows optimal diagnosis and treatment of MTC; the former allowing screening and early diagnosis of MTC by routine CT measurements in nodular thyroid diseases that require adequate and complete surgery required to be performed. The former leads to the diagnosis of familial MTC and to the identification of at-risk subjects on whom early or prophylactic surgery may be performed.

Management and treatment

Treatment of MTC is based on complete surgical resection, including total thyroidectomy along with central and laterocervical nodal dissection. For locally advanced or metastatic MTC, complete cervical surgery is required and needs to be combined with other systemic treatments; as chemotherapy is not very efficient, radioimmunotherapy and RET target gene therapy (mainly tyrosine kinase inhibitors) appear as possible valuable therapeutic options for the future.

Prognosis

Ten-year survival is about 80% when patients are not surgically cured and reaches 95% when the biological marker CT is normalized after surgery.