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Molecular Diagnostics > Molecular Identification of Somatic Mutations in Cancers 3 > Flashcards

Molecular Identification of Somatic Mutations in Cancers 3 Flashcards

1
Q

Trilateral Retinoblastoma

A

A malignant midline primitive neuroectodermal tumor occurring in patients with inherited uni- or bilateral retinoblastoma.

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2
Q

Neuroectoderm

A

Embryonic ectoderm that gives rise to nervous tissue.

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3
Q

Ectoderm

A

The outermost layer of cells or tissue of an embryo in early development, or the parts derived from this, which include the epidermis and nerve tissue.

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4
Q

Unilateral Retinoblastoma

A

Retinoblastoma that only affects one eye.

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5
Q

Bilateral Retinoblastoma

A

Retinoblastoma that affects both eyes.

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6
Q

Leukocoria

A

An abnormal white reflection from the back of the eye.

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7
Q

Strabismus

A

Inward or outward misalignment of the eye.

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8
Q

Pineal gland

A

A small endocrine gland in the brain of most vertebrates. The pineal gland produces melatonin, a serotonin-derived hormone which modulates sleep patterns in both circadian and seasonal cycles. The shape of the gland resembles a pine cone, which gives it its name. The pineal gland is located near the center of the brain, between the two hemispheres, tucked in a groove where the two halves of the thalamus join.

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9
Q

Endocrine System

A

A chemical messenger system comprising feedback loops of the hormones released by internal glands of an organism directly into the circulatory system, regulating distant target organs. In humans, the major endocrine glands are the thyroid gland and the adrenal glands.

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10
Q

Adrenal Glands

A

A small gland that makes steroid hormones, adrenaline, and noradrenaline. These hormones help control heart rate, blood pressure, and other important body functions. There are two adrenal glands, one on top of each kidney.

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11
Q

Parasellar

A

A region in the brain next to the hollow in the skull bone that contains the pituitary gland.

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12
Q

Pituitary Gland

A

An endocrine (hormone-producing) gland that sits just beneath the base of the brain, behind the bridge of the nose. It is very small, about the size of a pea.

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13
Q

Suprasellar

A

A cerebrospinal fluid filled space between the top of the pituitary and bottom of the hypothalamus.

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14
Q

Extrocular Muscles

A

The seven extrinsic muscles of the human eye.

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15
Q

Dystrophy

A

A disorder in which an organ or tissue of the body wastes away.

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16
Q

Chorioretinal Atrophy

A

Disease of the choroid and retina.

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17
Q

Choroid

A

A part of the Uvea, the vascular layer of the eye, and contains connective tissues, and lies between the retina and the sclera.

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18
Q

Phythisis Bulbi

A

The end-stage ocular response to trauma and/or severe ocular disease. The presentation is that of a very soft, atrophic, blind, and shrunken eye with disorganization of the intraocular structures.

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19
Q

Preauricular

A

The major salivary glands located beneath the floor of the mouth. They each weigh about 15 grams and contribute some 60–67% of unstimulated saliva secretion; on stimulation their contribution decreases in proportion as the parotid secretion rises to 50%.

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20
Q

Cervical Lymph Nodes

A

Lymph nodes found in the neck.

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21
Q

Neuroblastoma

A

Cancer of immature nerve cells arising from the adrenal gland, nerve ganglia or the neck.

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22
Q

Nerve Ganglia

A

The relay stations of the body’s nervous system: As one nerve enters a ganglion, another nerve exits it. Ganglia play an essential role in connecting the parts of the peripheral and central nervous systems.

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23
Q

Medulloblastoma

A

A malignant tumor of the central nervous system, most commonly found in the cerebellum in children.

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24
Q

Basophillic

A

A technical term used by pathologists. It describes the microscopic appearance of cells and tissues, as seen down the microscope, after a histological section has been stained with a basic dye.

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25
Q

Enucleate

A

To remove the nucleus from (a cell).

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26
Q

Focal Therapy

A

A treatment for prostate cancer of low to intermediate aggressiveness that is completely contained (localized) within the prostate.

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27
Q

Brachytherapy

A

One type of radiation therapy that’s used to treat cancer. Sometimes called internal radiation. Allows doctors to deliver higher doses of radiation to more-specific areas of the body, compared with the conventional form of radiation therapy.

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28
Q

Wilms Tumor

A

A rare kidney cancer that affects children.

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29
Q

Nephrogenesis

A

Development or growth of the kidney.

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30
Q

Congenital Mesoblastic Nephroma

A

Rare, but is the most common kidney neoplasm diagnosed in the first three months of life and accounts for 3-5% of all childhood renal neoplasms. Generally non-aggressive and amenable to surgical removal.

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31
Q

Renal Neoplasm

A

The presence of a neoplasm of the kidney.

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32
Q

Nephrectomy

A

Surgical removal of part or whole of kidney; usually done to prevent cancer spread.

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33
Q

Cystic

A

Characterized by cysts.

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34
Q

Gonadoblastoma

A

A complex neoplasm composed of a mixture of gonadal elements, such as large primordial germ cells, immature Sertoli cells or granulosa cells of the sex cord, and gonadal stromal cells. By definition benign, but more than 50% are malignant, and an additional 10% have other more aggressive malignancies, and as such are often treated as malignant.

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35
Q

Sertoli Cells

A

A “nurse” cell of the testicles that is part of a seminiferous tubule and helps in the process of spermatogenesis, the production of sperm.

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36
Q

Granulosa Cells

A

A somatic cell of the sex cord that is closely associated with the developing female gamete in the ovary of mammals.

37
Q

Teratiod Rhabdoid Tumor

A

A rare and fast-growing cancerous tumor of the brain and spinal cord.

38
Q

Renal Cell Carcinoma

A

Kidney cancer.

39
Q

Sympathoadrenal System

A

A physiological connection between the sympathetic nervous system and the adrenal medulla and is crucial in an organism’s physiological response to outside stimuli.

40
Q

Adrenal Medulla

A

Neuroendocrine tissue composed of postganglionic sympathetic neurons, fibers from the ganglion to the effector organ. It is really an extension of the autonomic nervous system.

41
Q

Ganglion

A

A group of neuron cell bodies in the peripheral nervous system.

42
Q

Peripheral Nervous System

A

The division of the nervous system containing all the nerves that lie outside of the central nervous system (CNS). The primary role of the PNS is to connect the CNS to the organs, limbs, and skin. These nerves extend from the central nervous system to the outermost areas of the body.

43
Q

Nueral Crest Cells

A

A temporary group of cells unique to vertebrates that arise from the embryonic ectoderm germ layer, and in turn give rise to a diverse cell lineage—including melanocytes, craniofacial cartilage and bone, smooth muscle, peripheral and enteric neurons and glia.

44
Q

Glia

A

Non-neuronal cells in the central nervous system and the peripheral nervous system that do not produce electrical impulses. They maintain homeostasis, form myelin in the peripheral nervous system, and provide support and protection for neurons.

45
Q

Myelogenous

A

Of, relating to, originating in, or produced by the bone marrow.

46
Q

Circulating Tumor DNA - ctDNA

A

Tumor-derived fragmented DNA in the bloodstream that is not associated with cells.

47
Q

Minimal Residual Disease

A

A small number of cancer cells remain in the patients’ blood or bone marrow following treatment.

48
Q

Uterine Aspirate

A

Vacuum or suction aspiration that uses aspiration to remove uterine contents through the cervix. It may be used as a method of induced abortion, a therapeutic procedure used after miscarriage, or a procedure to obtain a sample for endometrial biopsy.

49
Q

Endothelial Progenitor Cells

A

Multiple different cell types that play roles in the regeneration of the endothelial lining of blood vessels.

50
Q

Cell Free DNA

A

All non-encapsulated DNA in the blood stream.

51
Q

Myometrium

A

The middle layer of the uterine wall, consisting mainly of uterine smooth muscle cells but also of supporting stromal and vascular tissue. Its main function is to induce uterine contractions.

52
Q

Metorrhagia

A

Heavy menstral bleeding.

53
Q

Safe Sequencing

A

A unique molecular identifier (UMI) approach to detect rare variants.

54
Q

Tagged Amplicon Deep Sequencing

A

Enables the amplification of the entire genome by tilling short amplicons through the usage of two-step amplification. It produces libraries tagged with the specific barcodes of the samples and allows targeted sequencing of the entire genome to detect mutations in circulating tumor DNA (ctDNA).

55
Q

Transvaginal Ultrasoundography

A

A test used to look at a woman’s uterus, ovaries, tubes, cervix and pelvic area. Transvaginal means across or through the vagina.

56
Q

Targeted Proteomics

A

Detects proteins of interest with high sensitivity, quantitative accuracy, and reproducibility.

57
Q

Epithelial to Mesenchymal Transition

A

The process whereby epithelial cells are transformed into mesenchymal cells.

58
Q

Mesenchymal Cells

A

Multipotent stromal cells that can differentiate into a variety of cell types, including osteoblasts (bone cells), chondrocytes (cartilage cells), myocytes (muscle cells) and adipocytes (fat cells which give rise to marrow adipose tissue).

59
Q

Stromal Cells

A

Differentiating cells found in abundance within bone marrow but can also be seen all around the body.

60
Q

Circulating Endothelial Cells

A

A subpopulation of endothelial cells, are mature endothelial cells thought to originate from blood vessel walls and are released into the circulation in response to endothelial damage.

61
Q

Cytotxic

A

Toxic to living cells.

62
Q

Renal Cell Carcinoma

A

A type of kidney cancer.

63
Q

Tubulocystic Renal Cell Carcinoma

A

A rare subtype of renal cell carcinoma.

64
Q

Genitourinary

A

Relating to the genital and urinary organs.

65
Q

Trabecula

A

A series or group of partitions formed by bands or columns of connective tissue, especially a plate of the calcareous tissue forming cancellous bone.

66
Q

Paragangliomas

A

A type of neuroendocrine tumor that forms near certain blood vessels and nerves outside of the adrenal glands.

67
Q

Hemanglioblastomas

A

Vascular tumors of the central nervous system that originate from the vascular system, usually during middle age.

68
Q

Endolymaphatic Sac Tumors

A

A very uncommon papillary epithelial neoplasm arising within the endolymphatic sac or endolymphatic duct.

69
Q

Endolymaphatic Sac

A

A non-sensory organ of the inner ear.

70
Q

Papillary Cystadenomas

A

A rare benign epithelial tumor of the salivary gland.

71
Q

Septae

A

A dividing partition between two tissues or cavities.

72
Q

Oncocytic

A

Cellular enlargement characterized by an abundant eosinophilic granular cytoplasm as a result of the accumulation of altered mitochondria.

73
Q

Eosinophilic

A

(of a cell or its contents) readily stained by eosin.

74
Q

Eosin

A

The most common dye to stain the cytoplasm in histology.

75
Q

Demoplasia

A

Growth of dense connective tissue or stroma.

76
Q

Hemoglobinopathy

A

A hereditary condition involving an abnormality in the structure of hemoglobin.

77
Q

Perinuclear Clearing

A

Pale halo surrounds the nucleus.

78
Q

Nephrectomy

A

Surgical removal of part or whole of kidney; usually done to prevent cancer spread.

79
Q

Renal Lithiasis

A

A chronic disease characterized by the formation of stones in the urinary system, whose treatment is not based solely on medical or surgical measures.

80
Q

Fumarate

A

A salt or ester of fumaric acid.

81
Q

Medullary

A

Relating to the inner region of an organ, tissue, or structure.

82
Q

Parathyroid Gland

A

Small endocrine glands in the neck of humans. Humans usually have four parathyroid glands, located on the back of the thyroid gland in variable locations. It produces and secretes parathyroid hormone in response to a low blood calcium, which plays a key role in regulating the amount of calcium in the blood and within the bones.

83
Q

Familial Pheochromocytoma

A

Rare tumors that are inherited as an autosomal dominant trait. They constitute 5% to 23% of the total.

84
Q

Acute Myeloid Leukemia

A

A type of blood cancer where excess of immature white blood cells or myeloid line of blood-forming cells is made by the bone marrow.

85
Q

Hematology

A

The study of the physiology of the blood.

86
Q

Chronic Myeloid Leukemia

A

A type of white blood cell cancer that is caused due to an acquired genetic defect. This causes bone pain, fever, night sweats, easy bleeding, fatigue, and weight loss.

87
Q

Acute Promyelocytic Leukemia

A

A subtype of acute myeloid leukemia (AML). There is an abnormal accumulation of immature granulocytes called promyelocytes.

88
Q

Progenitor Cells

A

A biological cell that can differentiate into a specific cell type. Can only differentiate into their “target” cell type and can divide only a limited number of times.

Molecular Diagnostics (20 decks)

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