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Molecular Diagnostics > Molecular Identification of Somatic Mutations in Cancers 2 > Flashcards

Molecular Identification of Somatic Mutations in Cancers 2 Flashcards

1
Q

MSI-H Tumors

A

Microsatellite instability-high. It is a feature of cancer’s genetic coding, which results in it behaving and “looking” a certain way on a microscopic level.

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2
Q

PD-1

A

Programmed death-1 is a cell surface receptor that functions as a T cell checkpoint and plays a central role in regulating T cell exhaustion.

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3
Q

Pharmacodynamic Markers

A

PD. Provides information about the pharmacologic effects of a drug on its target. In the targeted therapy era, PD endpoints often assess whether a given agent is engaging its molecular target in the expected manner.

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4
Q

Adenomatous Polyps

A

Typically benign growths that develop inside the tissues of different organs, such as the colon. While many of these growths are harmless, they can be precancerous. This means they could develop into cancer.

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5
Q

Adenoma

A

Benign tumors starting in the epithelial tissue of a gland or gland-like structure.

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6
Q

Neutrophil-lymphocyte Ratio

A

(NLR) is a marker of systemic inflammation and endothelial dysfunction. In recent years, it has been reported that the individual components of the differential white cell count, specifically the neutrophil and lymphocyte counts, may have clinical utility in predicting diseases.

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7
Q

Neutrophil

A

A type of white blood cell (WBC or granulocyte) that protect us from infections, among other functions. They make up approximately 40% to 60% of the white blood cells in our bodies,1 and are the first cells to arrive on the scene when we experience a bacterial infection.

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8
Q

Lymphocyte-monocyte Ratio

A

(LMR) has been used as a parameter reflecting systemic inflammation in several tumors and is reportedly associated with prognosis in cancer patients.

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9
Q

Platlet-lymphocyte Ratio

A

(PLR) is a hematological index which reflects increased level of inflammation and thrombosis.

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10
Q

Thrombosis

A

When blood clots block your blood vessels.

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11
Q

Melanocytic Neoplasm

A

A benign or malignant, primary or metastatic neoplasm affecting the melanocytes.

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12
Q

Melanocytes

A

A mature melanin-forming cell, especially in the skin.

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13
Q

Spitz Tumors

A

A group of melanocytic neoplasms with distinct morphological features that tend to affect young individuals.

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14
Q

Pigmented Epitheloid Melanocytomas

A

(PEM). An unusual variant of malignant melanoma with relatively indolent behavior.

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15
Q

Indolent

A

Causing little or no pain.

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16
Q

Arcal Melanoma

A

A rare type of skin melanoma that forms on the palms, soles of feet, or under finger or toenails.

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17
Q

Pyogenic Granuloma

A

A rapidly growing lesion that bleeds easily. Common in children and young adults, although they can develop in people of all ages. They are also fairly common in pregnant women. These legions are benign.

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18
Q

Fascicles

A

A bundle of structures, such as nerve or muscle fibers.

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19
Q

Fusiform

A

Spindle shaped.

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20
Q

Nuclear Atypia

A

Abnormal appearance of cell nuclei. It is a term used in cytopathology and histopathology. Atypical nuclei are often pleomorphic. Nuclear atypia can be seen in reactive changes, pre-neoplastic changes and malignancy. Severe nuclear atypia is, in most cases, considered an indicator of malignancy.

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21
Q

Cytopathology

A

A branch of pathology that studies and diagnoses diseases on the cellular level. Generally used on samples of free cells or tissue fragments, in contrast to histopathology, which studies whole tissues.

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22
Q

Histopathology

A

Refers to the microscopic examination of tissue in order to study the manifestations of disease. Specifically, in clinical medicine, histopathology refers to the examination of a biopsy or surgical specimen by a pathologist, after the specimen has been processed and histological sections have been placed onto glass slides. In contrast, cytopathology examines free cells or tissue micro-fragments.

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23
Q

No Kamino Bodies

A

A common histological finding in Reed nevus and may well represent a good marker to differentiate these from malignant melanomas.

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24
Q

Reed Nevus

A

A very dark pigmented melanocytic nevus with spindle-shaped dermal melanocytes on histology.

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25
Q

Nevus

A

A birthmark or a mole on the skin, especially a birthmark in the form of a raised red patch.

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26
Q

Sclerotic Stroma

A

A hardening of fibrous breast tissues (collagen) but without any cancerous growth. The breast itself would typically feel ‘ harder ‘ by physical touch and frequently accompanies the development of a fibroadenoma.

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27
Q

Fibroadenoma

A

A noncancerous breast lumps usually occurring in young women between 15 to 35 years of age. The lump will be firm, feels smooth and moves under the skin.

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28
Q

Filigree-like Rete Ridges

A

Elongated, thin and branched, dermal melanocytes arranged in a rosette-like configuration.

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29
Q

Epidermal Hyperplasia

A

An alteration in epidermal growth or differentiation characterized by an increase in the number of cells within the epidermis.

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30
Q

Exophytic

A

Proliferating externally or on the surface epithelium of an organ or other structure in which the growth originated.

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31
Q

Nodule

A

A small swelling or aggregation of cells in the body, especially an abnormal one.

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32
Q

Hepatocyte

A

A liver cell.

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33
Q

Cutaneous Melanoma

A

Melanoma that occurs on the skin and is the most common type of melanoma.

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34
Q

Desmoplasia

A

The growth of fibrous or connective tissue.

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35
Q

Uveal Melanoma

A

Melanoma of the eye involving the iris, ciliary body, or choroid (collectively referred to as the uvea).

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36
Q

Superficial Spreading Melanoma

A

A type of skin cancer that begins when the melanocytes in the skin grow out of control and form tumors.

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37
Q

Lentigo Maligna Melanoma

A

A type of melanoma in situ of skin, generally occurring as pigmented lesions on the face and other regions, following severe sun-exposure and skin damage.
Sometimes, a large area of the skin may be involved, and an irregularly pigmented patch seen and can also spread/metastasize to other areas of the body.

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38
Q

Demoplastic Melanoma

A

A rare cutaneous condition characterized by a deeply infiltrating type of melanoma with an abundance of fibrous matrix. It usually occurs in the head and neck region of older people with sun-damaged skin.

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39
Q

Mucosal Melanoma

A

An exceedingly rare variant of cutaneous melanoma that, due to its rarity, is poorly described and infrequently studied. Primary sites of origin include the head and neck, anorectum and vulvovaginal regions. It is uniquely different from cutaneous melanoma with respect to epidemiology, etiology, pathogenesis and prognosis.

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40
Q

Anorectum

A

The distal portion of the digestive tract, including the entire anal canal and the distal 2 cm of the rectum.

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41
Q

Etiology

A

The cause, set of causes, or manner of causation of a disease or condition.

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42
Q

Pathogenesis

A

The manner of development of a disease.

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43
Q

Congenital Nevi

A

Mole.

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44
Q

Blue Nevi

A

A type of melanocytic nevus. The blue color is caused by the pigment being deeper in the skin than in ordinary nevi.

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45
Q

Nodular Melanoma

A

The most aggressive form of melanoma. It tends to grow more rapidly in thickness than in diameter compared to other melanoma subtypes. Instead of arising from a pre-existing mole, it may appear in a spot where a lesion did not previously exist. Since NM tends to grow in depth more quickly than it does in width and can occur in a place that did not have a previous lesion, the prognosis is often worse because it takes longer for a person to be aware of the changes. NM is most often darkly pigmented; however, some NM lesions can be light brown, multicolored or even colorless. A light-colored or non-pigmented NM lesion may escape detection because the appearance is not alarming, however an ulcerated and/or bleeding lesion is common.

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46
Q

Vertical Growth Phase

A

Consists of cohesive nests, clusters, and nodules of tumor cells invading the dermis.

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47
Q

Radial Growth Phase

A

The early pattern of growth of cutaneous malignant melanoma, in which tumor cells spread laterally in the epidermis.

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48
Q

Pagetoid

A

A term used in dermatology to refer to “upward spreading” of abnormal cells in the epidermis. It is uncommon and a possible indication of a precancerous or cancerous condition. Cells display pagetoid growth when they invade the upper epidermis from below.

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49
Q

Amelanotic

A

A form of melanoma in which the malignant cells have little to no pigment. The term ‘amelanotic’ is often used to indicate lesions that are only partially devoid of pigment.

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50
Q

Lentiginous

A

Relating to or covered with or resembling freckles

freckled, having patterns (especially colorful patterns).

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51
Q

Lamina Properia

A

A thin layer of connective tissue that forms part of the moist linings known as mucous membranes or mucosa, which line various tubes in the body, such as the respiratory tract, the gastrointestinal tract, and the urogenital tract.

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52
Q

Subcutis

A

The deeper part of the dermis.

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53
Q

Dermis

A

A layer of skin between the epidermis and subcutaneous tissues, that primarily consists of dense irregular connective tissue and cushions the body from stress and strain. It is divided into two layers, the superficial area adjacent to the epidermis called the papillary region and a deep thicker area known as the reticular dermis.

54
Q

Nosology

A

The branch of medical science dealing with the classification of diseases.

55
Q

Solar Elastosis

A

A medical condition caused by sun damage to your skin over time. It causes photoaging as your skin gets thicker, drier, and more wrinkled. It can also alter the color of your skin.

56
Q

Panniculus

A

A sheet or layer of tissue. Most commonly used in the lay press to refer to an abdominal panniculus adiposus, a sheet of fat tissue that is present in the lower abdominal area.

57
Q

Leiomyoma

A

Also known as fibroids, is a benign smooth muscle tumor that very rarely becomes cancer (0.1%). They can occur in any organ, but the most common forms occur in the uterus, small bowel, and the esophagus.

58
Q

Dermatofibroma

A

A common benign fibrous nodule usually found on the skin of the lower legs.

59
Q

Dermatofibrosarcoma Protuberans

A

A rare type of cancer that causes a tumor in the deep layers of skin. This condition is a type of soft tissue sarcoma, which are cancers that affect skin, fat, muscle, and similar tissues.

60
Q

Neurofibromas

A

A benign nerve-sheath tumor in the peripheral nervous system.

61
Q

Cytomorphology

A

The morphology of cells.

62
Q

Morphology

A

The branch of biology that deals with the form of living organisms, and with relationships between their structures.

63
Q

Sentinel Node

A

The first lymph node to take up the material is removed and checked for cancer cells.

64
Q

Cancer Staging

A

The process of determining the extent to which a cancer has developed by growing and spreading. Contemporary practice is to assign a number from I to IV to a cancer, with I being an isolated cancer and IV being a cancer that has spread to the limit of what the assessment measures. The stage generally takes into account the size of a tumor, whether it has invaded adjacent organs, how many regional (nearby) lymph nodes it has spread to (if any), and whether it has appeared in more distant locations (metastasized).

65
Q

Lymphadenectomy

A

A surgical procedure for removing lymph nodes from the body. Also called lymph node dissection, this procedure is usually performed to evaluate evidence for the spread of cancer, which helps the medical team determine the progress of and treatment options for a patient’s malignancy.

66
Q

Karatinocytes

A

An epidermal cell which produces keratin.

67
Q

Hyperplastic

A

An abnormal increase in the number of cells in a tissue or organ, with consequent enlargement of the part or organ.

68
Q

Reticular Dermis

A

Provides skin with most of its strength, flexibility, and elasticity.

69
Q

Hypergranulosis

A

An increased number of cells in the granular layer of the skin. The granular layer is found near the surface in a part of the skin called the epidermis. A non-cancerous change.

70
Q

Conjuctivia

A

The mucous membrane that covers the front of the eye and lines the inside of the eyelids.

71
Q

Visceral Organs

A

The soft internal organs of the body, including the lungs, the heart, and the organs of the digestive, excretory, reproductive, and circulatory systems.

72
Q

Melanosis

A

A condition of abnormal or excessive production of melanin in the skin or other tissue.

73
Q

Schwannoma

A

Tumors that grow from Schwann cells, the cells that form myelin, the insulating layer around the peripheral nerves. A person can have a single schwannoma or many especially in the case of schwannomatosis or neurofibromatosis.

74
Q

Rhadomyosarcoma

A

A malignancy arising from soft tissue that forms the striated muscle.

75
Q

Straited Muscle

A

Skeletal muscle.

76
Q

Liposarcoma

A

A type of cancer that begins in the fat cells. It causes slow growing lump under the skin, pain, and swelling.

77
Q

Anaplastic

A

Denoting, relating to, or characteristic of cells or tissues that have lost their mature or specialized features, as in malignant tumors.

78
Q

Cytologic

A

Referring to cells.

79
Q

Atypia

A

A histopathologic term for a structural abnormality in a cell, i.e. it is used to describe atypical cells.

80
Q

Papule

A

A small, raised, solid pimple or swelling, often forming part of a rash on the skin and typically inflamed but not producing pus.

81
Q

Epidermal Collarete

A

A circular lesion with a circular rim of scale and or a peeling edge. These are ‘footprints’ of a vesicular or pustular lesion.

82
Q

Lichenoid

A

A bandlike infiltrate of inflammatory cells in the superficial dermis, parallel to the epidermis.

83
Q

Vesicule

A

A small fluid-filled bladder, sac, cyst, or vacuole within the body.

84
Q

Myxopapillary Ependymas

A

A slow-growing ependymoma (a type of glioma, which is a tumor that arises from the supportive tissue of the brain and spinal cord). They tend to occur in the lower part of the spinal column and are usually considered to be benign, low-grade or grade I tumors.

85
Q

Myxoid

A

Used to describe connective tissue that looks bluer or purplier compared to normal connective tissue when examined under the microscope.

86
Q

Pleomorphic Xathoastrocytomas

A

A rare, benign brain tumor that likely arises from astrocytes, cells in the nervous system that make up the supportive network for the brain. It is an astrocytoma, which is a type of glioma.

87
Q

Medulloblastoma

A

A cancerous (malignant) brain tumor that starts in the lower back part of the brain, called the cerebellum.

88
Q

Meningiomas

A

A primary central nervous system (CNS) tumor. This means it begins in the brain or spinal cord.

89
Q

Astrocytomas

A

A type of cancer that can form in the brain or spinal cord. Astrocytoma begins in cells called astrocytes that support nerve cells.

90
Q

Hemangiopericytomas

A

A term used to describe a group of tumors that are derived from pericytes, the cells normally arranged along specific types of blood vessels called capillaries and venules. These types of tumors are typically slow growing, may be either benign (non-cancerous) or malignant (cancerous), and may occur anywhere in the body.

91
Q

Methylome Profiling

A

Reveals functions and genes which are differentially methylated in serrated compared to conventional colorectal carcinoma.

92
Q

Gliomas

A

A tumor that originates in the glial cells of the brain or spinal cord that causes headache, confusion, memory loss, speech problems or seizures.

93
Q

Glial Cells

A

Non-neuronal cells in the central nervous system and the peripheral nervous system that do not produce electrical impulses.

94
Q

Glionueral Tumors

A

A group of rare neoplasms made up of neural and glial components in heterogenous proportions, generally exhibiting WHO grade I clinical behavior.

95
Q

Neuronal Tumors

A

Tumors of the central nervous system that contain abnormal neuronal elements.

96
Q

Oligodendrogliomas

A

An uncommon tumor that forms in the brain, usually develops in either the frontal or temporal lobes of the brain, but in rare cases, they can form in the spinal cord. Develops from cells called oligodendrocytes.

97
Q

Gliosarcoma

A

A rare type of glioma, a cancer of the brain that comes from glial brain cells, as opposed to the neural brain cells. A malignant cancer and is defined as a glioblastoma consisting of gliomatous and sarcomatous components.

98
Q

Giant Cell Gliosarcoma

A

A histological variant of glioblastoma, presenting a prevalence of bizarre, multinucleated giant cells. It presents a high frequency of TP53 gene mutations.

99
Q

Ependyomas

A

A tumor that arises from the ependyma, a tissue of the central nervous system. Usually, in pediatric cases the location is intracranial, while in adults it is spinal.

100
Q

Subependyomas

A

A type of brain tumor; specifically, it is a rare form of ependymal tumor. They are usually in middle aged people. The prognosis is better than for most ependymal tumors, and it is considered a grade I tumor in the World Health Organization classification.

101
Q

Pineoblastomas

A

A type of cancerous tumor that grows in a part of the brain known as the pineal gland. It occurs mainly in children.

102
Q

Paragangliomas

A

A rare neuroendocrine neoplasm that may develop at various body sites. They are rare tumors, with an overall estimated incidence of 1/300,000. There is no test that determines benign from malignant tumors; long-term follow-up is therefore recommended for all individuals with paraganglioma.

103
Q

Neuroendocrine Cells

A

Cells that receive neuronal input and, as a consequence of this input, release message molecules into the blood. In this way they bring about an integration between the nervous system and the endocrine system, a process known as neuroendocrine integration.

104
Q

Filum Terminale

A

The nonfunctional continuation of the end of the spinal cord. It usually consists of fibrous tissue without functional nervous tissue.

105
Q

Adamantinomatous Craniopharyngioma

A

Histologically benign but clinically aggressive epithelial tumors of the sellar region that are associated with high morbidity and occasional mortality.

106
Q

Papillary Craniopharyngioma

A

Uncommon variants of craniopharyngiomas (CP), which are benign epithelial neoplasms of the sellar and suprasellar region.

107
Q

Craniopharyngioma

A

A rare type of benign brain tumor that usually arises near the pituitary gland.

108
Q

Pituicytoma

A

A rare brain tumor. It grows at the base of the brain from the pituitary gland.

109
Q

Granular Cell Tumors

A

Soft tissue tumors that can occur anywhere in the body.

110
Q

Pituitary Adenomas

A

Benign tumors of the pituitary gland.

111
Q

Adenohypophyseal

A

The portion of the pituitary gland containing secretory cells that release the hormones adrenocorticotropic hormone (ACTH), follicle-stimulating hormone (FSH), growth hormone (GH), luteinizing hormone (LH), prolactin, and thyroid-stimulating hormone (TSH).

112
Q

Pituitary Neuroendocrine Tumors

A

A tumor that develops from the gland cells of the pituitary gland. It is the most common type of pituitary gland tumor.

113
Q

Pituitary Blastoma

A

A malignant neoplasm of the pituitary gland. It is commonly diagnosed in children before 24 months of age.

114
Q

Astrocytes

A

An abundant and essential cell type that play key roles in brain development and function.

115
Q

Spindle Cell Oncocytoma

A

SCO. A recently described, rare neoplasm of the anterior pituitary.

116
Q

Pseudoprogression

A

A new or enlarging area(s) of contrast agent enhancement, in the absence of true tumor growth, which subsides or stabilizes without a change in therapy.

117
Q

Cholangiocarcinoma

A

A cancer that begins in the bile duct, a duct which carries bile and digestive fluid through liver.

118
Q

Chondrosarcoma

A

A rare type of tumor that usually begins in the bones.

119
Q

Oncogenesis

A

The development of a tumor or tumors.

120
Q

IDH Enzymes

A

Help generate metabolites and provide energy for cells.

121
Q

Krebs Cycle

A

The sequence of reactions by which most living cells generate energy during the process of aerobic respiration. It takes place in the mitochondria, consuming oxygen, producing carbon dioxide and water as waste products, and converting ADP to energy-rich ATP.

122
Q

Lipogenesis

A

The metabolic formation of fat.

123
Q

Peroxisome

A

A small organelle present in the cytoplasm of many cells, which contains the reducing enzyme catalase and usually some oxidases.

124
Q

Catalase

A

A common enzyme found in nearly all living organisms exposed to oxygen which catalyzes the decomposition of hydrogen peroxide to water and oxygen. It is a very important enzyme in protecting the cell from oxidative damage by reactive oxygen species.

125
Q

Oxidase

A

An enzyme which promotes the transfer of a hydrogen atom from a particular substrate to an oxygen molecule, forming water or hydrogen peroxide.

126
Q

Icocitrate

A

Any salt or ester of isocitric acid.

127
Q

Ester

A

An organic compound made by replacing the hydrogen of an acid by an alkyl or other organic group. Many naturally occurring fats and essential oils are esters of fatty acids.

128
Q

Intrahepatic cholangiocarcinoma

A

(ICC). A subtype of a family of aggressive cholangiocarcinomas, tumors that arise from cholangiocytes of the biliary tree.

129
Q

Cholangiocytes

A

The epithelial cells of the bile duct.

130
Q

Biliary Tree

A

AKA The biliary tract. Refers to the liver, gall bladder and bile ducts, and how they work together to make, store and secrete bile.

Molecular Diagnostics (20 decks)

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