Unit 1 Flashcards
What is a Bartholin Cyst and what part of the genital tract is it located in?
Cystic dilation of Bartholin gland due to inflammation and obstruction of gland
Located on vulva
What age group does a Bartholin Cyst affect?
Women of reproductive age
How does a Bartholin Cyst present?
Unilateral, painful cystic lesion on lower vestibule
What is the histologically defining characteristic of a Condyloma?
Koilocytes
What is the major and minor causes of condylomas?
Major - HPV types 6 or 11
Minor - secondary syphilis
Where is a condyloma located?
Vulva
What is Lichen Sclerosis?
Thinning of epidermis and sclerosis of dermis on vulva
How would you describe the skin of Lichen Sclerosis?
Parchment-like, white patch
Age group associated with Lichen Sclerosis
Postmenopausal women
What presents as hyperplasia of the vulvar squamous epithelium?
Lichen Simplex Chronicus
HPV-Related vulvular carcinoma is due to which HPV types?
16 and 18
What does HPV-related vulvular carcinoma arise from?
VIN - vulvular intraepithelial neoplasia
Characterized by koilocyte change, increased mitotic activity, disordered cell maturation, and nuclear atypia
What does non-HPV-related vulvular carcinoma arise from?
Long standing Lichen Sclerosis
What disease is characterized by malignant epithelial cells in epidermis of vulva?
Extramammary Paget Disease
What is vaginal adenosis?
Persistence of columnar epithelium in upper vagina
Risk factor for Vaginal Adenosis
Exposure to DES in utero
Besides adenosis, other effect of DES exposure in utero
Clear Cell Adenocarcinoma
Grape-like mass protruding from vagina or penis of child, usually less than 5 years old
Embryonal Rhabdomyosarcoma
Cancer from lower 1/3 of vagina goes to ____ nodes, cancer from upper 2/3 of vagina goes to _____ nodes
Inguinal; iliac
Persistent HPV infection can lead to increased risk for _____ ____ ______
Cervical Intraepithelial Neoplasia (CIN)
High risk HPV types
16, 18, 31, 33
Which tumor suppressor proteins are destroyed during a high risk HPV infection and how?
p53 and Rb
Through production of E6 and E7 proteins
4 histological characteristics of Cervical Intraepithelial Neoplasia
Koilocyte change
Disordered cell maturation
Nuclear atypia
Increased mitotic activity
What age group is cervical carcinoma most often seen in?
Middle aged women (40-50 years)
Primary and secondary risk factors for cervical carcinoma
Primary - High risk HPV infection
Secondary - smoking, immunodeficiency (AIDs)
Common cause of death in advanced cervical carcinoma
Hydronephrosis with postrenal failure
How long does it take to progress from CIN to carcinoma?
10 - 20 years
Disease defined by secondary amenorrhea due to loss of basalis and scarring, usually from overaggressive D&C (abortion)
Asherman Syndrome
What is an anovulatory cycle?
Estrogen-driven proliferative phase without a progesterone-driven secretory phase
How does acute endometritis present?
Fever, abnormal uterine bleeding, pelvic pain
What are the characteristic cells of chronic endometritis?
Plasma cells (lymphocytes always present)
What are the four main causes of chronic endometritis?
Retained products of conception
Chronic Pelvic Inflammatory Disease
IUD
TB
What is an endometrial polyp and what drug can it be a side effect of?
Hyperplastic protrusion of endometrium
Tamoxifen
Most common site and presentation of endometriosis?
Ovary - chocolate cyst
What is endometrial hyperplasia?
Hyperplasia of endometrial glands relative to stroma
What causes endometrial hyperplasia?
Unopposed estrogen (obesity, polycystic ovarian syndrome, estrogen replacement)
Two pathways for endometrial carcinoma & which is most common
Hyperplasia pathway (75%) - arises from endometrial hyperplasia Sporadic pathway (25%) - little bit older population (70 years)
Which type of endometrial carcinoma is more aggressive and what is the histological characteristics of it?
Sporadic type
Papillary structures with psammoma body formation
Benign neoplastic proliferation of smooth muscle arising from myometrium; most common tumor in females
Leiomyoma (Fibroids)
Malignant proliferation of smooth muscle arising from myometrium
Leiomyosarcoma
Characteristic hormone imbalance of Polycystic Ovarian Disease
Increased LH – excess androgen production = excess hair
Low FSH due to feedback
Classic presentation for Polycystic Ovarian Disease
Obese young woman with infertility, oligomenorrhea, and hirsutism
Most common type of ovarian tumor
Surface Epithelial Tumor
Benign ovarian tumors have a ____ lining, whereas malignant ovarian tumors have a ____ lining
SImple, flat lining
Thick, shaggy lining
Two common subtypes of surface epithelial ovarian tumors and two less common subtypes of surface epithelial ovarian tumors
Serous tumors and mucinous tumors
Endometroid tumors and Brenner tumors (bladder-like epithelium, usually benign)
BRCA1 mutation carriers have increased risk for ____ carcinoma of ovary and fallopian tube
Serous
Useful serum marker used to monitor the treatment response of surface epithelial ovarian tumors and screen for recurrance
CA-125
2nd most common type of ovarian tumor
Germ Cell Tumor
Benign germ cell ovarian tumor composed of fetal tissue from two or three embryological layers
Cystic Teratoma
Most common malignant germ cell ovarian tumor composed of large cells with clear cytoplasm and central nuclei
Dysgerminoma
Most common malignant germ cell ovarian tumor in children; Schiller-Duval bodies
Endodermal Sinus Tumor (Yolk Sac Tumor)
Malignant germ cell ovarian tumor that mimics placental tissue, hemorrhagic with early hematogenous spread
Choriocarcinoma
Malignant germ cell ovarian tumor that is composed of large, primitive cells that metastasizes early
Embryonal Carcinoma
3 types of Sex-Cord Stromal Ovarian Tumors
Granulosa-Theca cell tumor
Sertoli-Leydig cell tumor
Fibroma
_____ Tumor is a metastatic mucinous tumor that involves both ovaries (bilateral), commonly due to metastatic gastric carcinoma
Krukenberg Tumor
Key risk factor for ectopic pregnancy
Scarring (PID or endometriosis)
Implantation of placenta in lower uterine segment so it overlies cervical opening
Placenta Previa
Characteristics of Pre-Eclampsia
Hypertension, proteinuria, edema
Eclampsia is pre-eclampsia + _____
Seizures
What does HELLP stand for?
Hemolysis, Elevated Liver enzymes, Low Platelets
Preeclampsia + thrombotic microangiopathy
Abnormal conception characterized by swollen and edematous villi with proliferation of trophoblasts; can be complete or partial
Hydatidiform Mole
Classic presentation of mole
Passage of grape-like masses through vaginal canal in second trimester
What is acute mastitis and what organism is it commonly caused by?
Bacterial infection of breast
Staph Aureus
How does acute mastitis present?
Erythematous breast with purulent nipple discharge
Inflammation of subareolar ducts seen in smokers
Periductal Mastitis
Presentation of Periductal Mastitis
Subareolar mass with nipple retraction
Inflammation of subareolar ducts + dilation
Mammary Duct Ectasia
Presentation of Mammary Duct Ectasia
Periareolar mass with green-brown nipple discharge
What is fat necrosis usually caused by?
Trauma
What can you see on fat necrosis breast biopsy?
Necrotic fat with calcifications and giant cells
Most common change in premenopausal breast
Fibrocystic change
Fibrocystic Change associated with:
2X Increased risk for invasive carcinoma
5X increased risk for invasive carcinoma
2X - Ductal Hyperplasia & Sclerosing Adenosis
5X - Atypical Hyperplasia
Papillary growth in breast, usually into large duct
Intraductal Papilloma
Classic histological characterization and clinical presentation of Intraductal Papilloma
Histo - fibrovascular projections lined by epithelial and myoepithelial cells (2 cell layers)
Clinical - bloody nipple discharge in premenopausal woman
Most common benign neoplasm in breast
Fibroadenoma
What is a Phyllodes Tumor and what is defining about it?
Fibroadenoma-like tumor with overgrowth of fibrous component
Defining leaf-life projections on biopsy
Risk factors for breast cancer
Female, postmenopausal, early menarche/late menopause, obesity, atypical hyperplasia, 1st degree relative with breast cancer
How does Ductal Carcinoma In Situ present?
Calcifications on mammography (biopsy needed to distinguish from benign conditions)
No masses
What is Paget Disease of the breast?
DCIS that extends up the ducts to involve skin of nipple
Presents as nipple ulceration and erythema
Most common type of invasive cancer of the breast
Invasive Ductal Carcinoma
Presentation of Invasive Ductal Carcinoma
Mass with possible skin dimpling or nipple retraction
4 Subtypes of Invasive Ductal Carcinoma and descriptions
Tubular Carcinoma - well-differentiated tubules that lack myoepithelial cells
Mucinous Carcinoma - abundant extracellular mucin
Medullary Carcinoma - large, high grade cells growing in sheets with lymphocytes and plasma cells
Inflammatory Carcinoma - carcinoma in dermal lymphatics, poor prognosis, can be mistaken for acute mastitis
What is characteristic of Lobular Carcinoma In Situ and Invasive Lobular Carcinoma Cells?
Lack E-Cadherin (form single file pattern in invasive)
Most important factor in breast cancer staging and most useful factor
Important - metastasis
Useful - spread to axillary lymph nodes
Receptor status on poorest prognostic breast cancer and population most at risk
Triple Negative (negative for ER, PR, and HER2/Neu) African American women
Most common histological subtype of breast cancer in males
Invasive ductal carcinoma
Risk factors for males to develop breast cancer
BRCA2 mutation and Klinefelter’s Syndrome
Impaired cartilage proliferation in the growth plate - common cause of dwarfism
Achondroplasia
Achondroplasia is due to ______
Activating mutation in fibroblast growth factor receptor 3 (FGFR3)
What is osteogenesis impefecta?
Congenital defect of bone formation resulting in structurally weak bone
Common cause of osteogenesis imperfecta
Autosomal dominant defect in Collagen Type I synthesis
Clinical features of osteogenesis imperfecta
Multiple fractures of bone, blue sclera, hearing loss
Inherited defect of bone resorption; results in abnormally thick, heavy bone that fractures easily
Osteopetrosis
What is the cause of Osteopetrosis and a common mutation that leads to it?
Poor osteoclast function
Carbonic Anhydrase II mutation leads to loss of acidic microenvironment required for bone resorption
Clinical features of Osteopetrosis
Bone fractures Anemia/thrombocytopenia/leukopenia Vision and hearing impairment Hydrocephalus Renal Tubular Acidosis - seen with Carbonic Anhydrase II Mutation
What is Ricketts/Osteomalacia and what is the difference between the two?
Defective mineralization of osteoid due to low Vit D
Ricketts = children, Osteomalacia = adults
Clinical features of Ricketts
Pigeon-breast deformity Frontal Bossing (enlarged forehead) Rachitic Rosary (osteoid deposition at costochondral junction) Bowing of legs
What is Osteoporosis and what are the consequences?
Reduction in trabecular bone mass
Results in porous bone with increased risk for fracture
How can you differentiate between osteoporosis and osteomalacia?
Labs - serum calcium, phosphate, PTH, and alkaline phosphate are normal in Osteoporosis
Osteomalacia - low calcium & phosphate, high PTH
Disease caused by imbalance between osteoblast and osteoclast activity
Paget Disease of Bone
Three Stages of Paget Disease of Bone
Osteoclastic
Mixed Osteoblastic/Osteoclastic
Osteoblastic
Clinical Features and Complications of Pagets Disease of Bone
Bone Pain Increasing hat size Hearing loss Lion-like facies Isolated elevated alkaline phosphate
Complications: high-output cardiac failure, osteosarcoma
Treatment for Paget Disease of Bone
Calcitonin and Bisphosphonates
What is Osteomyelitis and what population does it normally occur in?
Infection of marrow and bone, children
What part of the bone is affected in Osteomyelitis in kids vs. adults?
Kids - metaphysis
Adults - epiphysis
How does osteomyelitis present on X Ray?
Lytic focus (sequestrum, abscess) surrounded by sclerosis (involucrum)
Common bacterial causes of Osteomyelitis and which is most common?
Staph Aureus - most common cause
N gonorrhoeae - sexually active young adults
Salmonella - sickle cell disease
Pseudomonas - diabetics, IV drug users
Pasteurella - cat, dog bites or scratches
TB - Pott disease
What are common causes and complications of Avascular Necrosis of bone?
Causes - trauma/fracture, steroids, sickle cell anemia, caisson disease
Complications - osteoarthritis, fracture
What is an Osteoma and what is it associated with?
Benign tumor of bone
Associated with Gardner Syndrome (GI)
Benign tumor of osteoblasts surrounded by a rim of reactive bone
Osteoid Osteoma
Where does Osteoid Osteoma arise and in what patient population?
Cortex of long bones
Young adults, males more commonly
Difference between Osteoid Osteoma and Osteoblastoma
Osteoid Osteoma pain is relieved with Aspirin
Most common benign tumor of bone
Osteochondroma
Benign tumor of bone with overlying cartilage cap
Osteochondroma
Malignant proliferation of osteoblasts
Osteosarcoma
Where does Osteosarcoma arise and what are some risk factors?
Metaphysis of long bone
Familial Retinoblastoma, Paget Disease, Radiation exposure
Imaging characteristics of Osteosarcoma
Sunburst appearance, lifting of periosteum (Codman Triangle)
What is a Giant Cell Tumor?
Bone tumor comprised of multinucleated giant cells and stromal cells
Where does a Giant Cell Tumor arise?
Epiphysis of long bone (only one to do so)
What is the characteristic appearance of a Giant Cell Tumor on xray?
Soap Bubble appearance
Malignant proliferation of poorly-differentiated cells derived from neuroectoderm
Ewing Sarcoma
Where does Ewing Sarcoma normally arise and what is its appearance on xray?
Diaphysis of long bone
Onion skin appearance
What is the characteristic translocation of Ewing Sarcoma?
11;22
Benign tumor of cartilage
Chondroma
Malignant cartilage-forming tumor
Chondrosarcoma
Which is more common in bone, metastatic tumors or primary tumors?
Metastatic tumors
What does metastatic bone cancer usually result in physically?
Osteolytic lesions (punched out)
Most common type of arthritis
Degenerative Joint Disease/Osteoarthritis
Progressive degeneration of articular cartilage
Major risk factor for osteoarthritis + minor ones
Major - age (greater than 60)
Minor - obesity, trauma
Classic presentation of osteoarthritis
Joint stiffness in the morning that worsens during the day
Important pathological features of Osteoarthritis
Disruption of cartilage that lines articular surface - fragments in joint space are called joint mice Eburnation (polishing) of subchondral bone Osteophyte formation (bony outgrowths) in DIP and PIP joints of fingers classically
What is Rheumatoid Arthritis and what population is it associated with?
Autoimmune disease associated with HLA-DR4
Arises in women of late childbearing age
What is the hallmark pathology of Rheumatoid Arthritis?
Synovitis leading to formation of pannus (inflamed granulation tissue)
How to differentiate Rheumatoid Arthritis from Osteoarthritis clinically?
Joint stiffness improves with activity in RA
DIP is spared in RA (unlike OA)
Clinical features of Rheumatoid Arthritis
Fever, malaise, weight loss, myalgias
Vasculitis, rheumatoid nodules
Baker Cyst (knee)
Pleural effusions, lymphadenopathy, interstitial lung fibrosis
Lab findings in Rheumatoid Arthritis
IgM autoantibody against Fc portion of IgG (rheumatoid factor)
Neutrophils and high protein in synovial fluid
Group of joint disorders characterized by lack of rheumatoid factor, axial skeleton involvement, and HLA-B27 involvement
Seronegative Spondyloarthropathies
3 disease included in Seronegative Spondyloarthropathies
Ankylosing Spondyloarthritis - sacroiliac joints & spine, young adults, fusion of vertebrae (bamboo spine)
Reiter Syndrome - arthritis, urethritis, conjunctivitis, young adults, GI or chlamydia infection
Psoriatic Arthritis - axial and peripheral joints, DIP joints of hands and feet often involved (sausage fingers/toes)
Common causes of infectious arthritis
N gonorrheae (most common) S aureus
What is Gout?
Deposition of monosodium urate (MSU) crystals in tissue, especially the joints
What are some causes of secondary gout?
Leukemia/myeloproliferative diseases - hyperurecemia due to increased cell turnover
Lesch-Nyhan Syndrome - X linked deficiency of HGPRT
Renal Insufficiency
What is the presentation of acute gout?
Podagra - painful arthritis of big toe
Chronic gout can lead to _____ and _____
Development of tophi; renal failure
Inflammatory disease of the skin and skeletal muscle
Dermatomyositis
Clinical features of dermatomyositis
Bilateral proximal muscle weakness
Rash of upper eyelids, malar rash
Red papules on elbows, knuckles, knees
Difference between Dermatomyositis and Polymyositis
Polymyositis only involves skeletal muscle, not skin
Disorder characterized by muscle wasting and replacement of muscle tissue with adipose tissue
X-Linked Muscular Dystrophy
Benign tumor of adipose tissue
Lipoma
Malignant tumor of adipose tissue
Liposarcoma
Characteristic cell of Liposarcoma
Lipoblast
Benign tumor of skeletal muscle
Rhabdomyoma
What is a Rhabdomyosarcoma?
Malignant tumor of skeletal muscle
What is the most common malignant soft tissue tumor in children?
Rhabdomyosarcoma
Characteristic cell in Rhabdomyosarcoma and cell is ____ positive
Rhabdomyoblast; desmin positive
