Progress in the application of PGT in hereditary tumors

doi:10.19401/j.cnki.1007-3639.2022.11.001

Abstract

Abstract:

Hereditary tumors are essentially diseases caused by genetic material defects, and most of them exhibit Mendelian autosomal dominant inheritance. It not only endangers the health of patients, but also poses a serious threat to future generations. Preimplantation genetic testing (PGT) combined with in vitro fertilization and embryo transfer (IVF-ET) technology can detect the chromosomes or specific genes of gametes or embryos, and finally select embryos without pathogenic mutations of hereditary tumor susceptibility genes to be implanted into the uterus, thereby blocking the offspring transmission of hereditary tumors and reducing their incidence. This article briefly introduced the common hereditary tumors and their characteristics at present, summarized the application of PGT technology in reproductive intervention of common hereditary tumors and rare hereditary tumors such as familial adenomatous polyposis, hereditary breast cancer/ovarian cancer syndrome, discussed the development and ethical issue of PGT technology for hereditary tumors, and looked forward to its future development direction.

Key words: Hereditary tumors, Preimplantation genetic testing, Application progress

CLC Number:

CAO Xianling, ZHOU Xuanyou, CHEN Songchang, HUANG Hefeng, XU Chenming. Progress in the application of PGT in hereditary tumors[J]. China Oncology, 2022, 32(11): 1037-1043.

Figures/Tables 1

Tab. 1

Common cancer syndromes and their susceptibility genes and phenotypic characteristics"

Syndrome	Gene	Phenotypic features
HBOC1	BRCA1	Female breast, ovarian and colorectal cancer
HBOC2	BRCA2	Male and female breast, ovarian, prostate and pancreatic cancer
FAP	APC/CHRPE	Multiple colorectal and upper gastrointestinal adenomatous polyps, fibroma, epidermoid cyst
Hereditary non-polyposis colorectal cancer	MLH1, MSH2, MSH6, PMS2, PMS1	Colorectal, endometrial, ovarian, gastric, urinary and brain cancers
MEN1	MEN1	Pancreatic tumor, facial angiofibroma, gastrinoma, collagenoma, insulinoma and anterior pituitary tumor
MEN2	RET	Medullary thyroid carcinoma, parathyroid carcinoma, pheochromocytoma
Li-Fraumeni syndrome	TP53	Breast cancer, soft tissue sarcoma, osteosarcoma, brain tumor, acute leukemia, adrenocortical carcinoma, lung adenocarcinoma, colon cancer, pancreatic cancer, prostate cancer, nephroblastoma and phyllodes tumor
Von Hippel-Lindau syndrome	VHL	Pheochromocytoma, hemangioblastoma, high renal cell tumor, pancreatic carcinoma and ampullary paraganglioma adenocarcinoma
Peutz-Jeghers syndrome	STK11	Hamartomatous intestinal polyps, lung cancer, breast cancer, urinary tract cancer, perioral and buccal mucosal pigmentation
Hereditary diffuse gastric cancer	CDH1	Diffuse gastric cancer, lobular breast cancer
Familial RB	RB1	Primary eye cancer
Familial melanoma	CDKN2A (p16)	Melanoma
Fanconi anemia	FANC (A, B, C, D1, D2, E, F, G, I, J, L, M, N), FANCD1/BRCA2, FANCJ/BACH1/BRIP1, FANCN/PALB2	Acute myeloid leukaemia
LS	PMS1, MLH1, MSH2, MSH and PMS2	Cancers of ovary, small intestine, brain and skin
Neurofibromatosis type 1	NF1	Optic nerve glioma, meningioma, hypothalamic tumor, neurofibrosarcoma, rhabdomyosarcoma; Duodenal carcinoid, somatostatinoma, parathyroid adenoma, pheochromocytoma, pilocytic astrocytoma, malignant peripheral nerve sheath tumors, tumors of several other parts of the body, including the central nervous system
Neurofibromatosis type 2	NF2	Meningioma, glioma, vestibular schwannoma
Tuberous sclerosis type 2	TSC2	Myocardial rhabdomyoma, multiple bilateral renal angiomyolipoma, ependymoma, renal carcinoma, giant cell astrocytoma; Benign tumors of the eye, heart, and lungs

Tab. 1

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