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Pathology > Heritable disease and syndromes > Flashcards

Heritable disease and syndromes Flashcards

1
Q

What is Stewart- Treves syndrome?

A

Angiosarcoma in setting of long-standing lymphedema (post lymph node dissection)

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1
Q

What are symptoms of glucagon-secreting tumours?

A

necrolytic migratory erythema (NME) diabetes mellitus Hypoaminoacidemia Cheilosis Normochromic, normocytic anemia Venous thrombosis Weight loss Neuropsychiatric features.

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1
Q

What is Doege-Potter syndrome?

A

Paraneoplastic syndrome associated with solitary fibrous tumour Hypoglycemia from expression of IGF-1 (insulin-like growth factor)

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1
Q

Features of tuberous sclerosis

A

Central nervous system: SEGA, cortical tubers (epilepsy, learning difficulties, behavioral problems, and autism) Renal: angiomyolipomas (hemorrhage or by compression), renal cysts and renal-cell carcinomas Pulmonary: lymphangioleiomyomatosis Skin: shagreen patch, melanotic macules, ash-leaf patch, subungual fibroma, facial angiofibromas, connective tissue nevi, adenoma sebaceum Other: Sugar tumours of pancreas, lung and uterus; cardiac rhabdomyomas; retinal hamartomas

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1
Q

MEN1

A

AD, MEN1 11q13, menin Manifestations: Parathyroid hyperplasia Pancreatic neuroendocrine tumours Pituitary adenoma Duodenal gastrinoma Carcinoid tumours of thyroid Adrenocortical adenoma and lipomas

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1
Q

MEN2A

A

AD, RET 10q21, exons 10, 11, 13-15 Manifestations: -medullary thyroid carcinoma - 100% -parathyroid hyperplasia - 10-35% -pheochromocytoma - 50%

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1
Q

Carney Complex

A

AD, PRKAR1A protein kinase A type 1 alpha regulatory subunit, 17q23 (CCN1) or 2q16 (CCN2) Manifestations: Pituitary adenoma Cardiac myxoma Myxoid skin lesion Blue nevi Lentigines Pigmented schwannoma Sertoli cell tumour

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1
Q

NF1

A

AD, 17q11.2 neurofibromin 50% de novo mutation Manifestations: Neurofibromatosis (plexiform) Café au lait spots Inguinal/axillary freckling Optic nerve glioma Pheochromocytoma Duodenal somatostatinoma Lisch nodules Choroidal nevi Sarcoma Vascular dysplasia Wilms tumour Leukemia

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1
Q

Polyglandular autoimmune syndrome (ASP1)

A

Clin: Present as younger children as candidiasis, then later hypoparathyroidism and then adrenal insufficiency as adult 21q22, AIRE autoimmune regulator gene AIRE is a transcription factor expressed in thymus Stimulates production of peripheral antigens for the selection of self-reactive T cells for clonal destruction Manifestations: Autoimmune hypoparathyroidism/polyendocrinopathy Primary adrenal insufficiency Mucocutaneous candidiasis Ectodermal dystophy (nails, skin and dental enamel)

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1
Q

McCune-Albright

A

Manifestations: Hyperthyroidism Precocious puberty Cafe au lait – Coast of Maine Polyostotic fibrous dysplasia Fractures/bowing limbs Diffuse sclerosis of skull base

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1
Q

von Hippel Lindau

A

AD, VHL 3q26.25 Manifestations: Pheochromocytoma Adrenocortical carcinoma Vascular malformations CNS hemangioblastoma Renal cell carcinoma and renal cysts Endolymphatic sac tumour of ear

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1
Q

Manifestations of VHL

A

RCC Hamangioblastoma Pheochromocytoma Paraganglioma Pancreatic endocrine neoplasm Endolymphatic sac tumour

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1
Q

Birt-Hogg-Dube

A

AD, FLCN codes for folliculin Hair follicle hamartomas (fibrofolliculomas, acrocordons) Multiple oncocytomas or chromophobe carcinomas, or oncocytosis Spontaneous pneumothorax Increased risk of CRC

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1
Q

Manifestations of lead poisoning

A

Brain: HA, memory loss; peds: encephalopathy, MR Gingiva: Burton’s lead lines Blood: anemia, red cell basophilic stippling Peripheral nerves: demyelination Kidny: chronic tubulointerstitial disease GI: abdominal pain Bones: peds: radiodense deposits

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1
Q

Mechanisms of lead toxicity

A

Interference with calcium homeostasis Interferes with cartilage and bone remodelling, esp epiphysis Increased chondorgenesis anddelaying minerlaisation Inhibit heme synthesis enzymes: delta-aminolevulinic acid dehydratase and ferrochetelase – rise in protoporphyrin levels

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2
Q

Familial pitiuitary adenoma

A

MEN1 (menin, MEN1) MEN1-like (Kip1, CDKN1B) McCune-Albright (Gs-alpha, GNAS) Carney complex (PRKAR1A) Familial Isolated Pituitary Adenoma (AIP)

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3
Q

CK+/Vimentin+

A

RCC, clear cell type Endometrium Mesothelioma Salivary gland Thyroid Sweat gland Spindle cell carcinoma of any site

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4
Q

CK+/Vim-

A

RCC, chromophobe type Endocervix (adenocarcinoma) Lung carcinoma Breast Ovary Prostate Colorectum HCC

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5
Q

CK +/ EMA-

A

HCC (Cam5.2+, AE1/AE3–, CK903–) Adrenocortical neoplasms (frequently negative for all CKs) Most neuroendocrine neoplasms Embryonal carcinoma, yolk sac tumor Thyroid

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6
Q

CK-/EMA+

A

Meningioma Perineurioma Plasma cell neoplasms Anaplastic large cell lymphoma Popcorn or lymphocyte predominant (LP) cells [formerly L&H cells] in Hodgkin lymphoma RCC (sometimes)

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7
Q

CK+ non-epithelial tumours

A

Epithelioid sarcoma Synovial sarcoma Desmoplastic small round cell tumour, angiosarcoma

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8
Q

Pediatric fibrous proliferations

A

Fibrous hamartoma of infancy – solitary poorly circ proliferation of loosely shaped spindle cells in organoid nodules in fatty tissue Infantile digital fibromatosis – small round intracytoplasmic inclusions (size of lymphocyte, actin) Infantile myofibromatosis – small bundles of spindled cells, like sm. Mm. Juvenile hyaline fibromatosis – AR, cutaneous nodules, gingival hypertophy and flexure contractures, keloidal collagen Fibromatosis colli – rapidly gorwing mass in 2-4th week of life, diffuse scar iwthin skel m. Calcifying aponeuroic fibroma – ill-defined and painless masses on hands and feet of children between 10-15 y with primitive mesenchymal cells resembling fibromatosis or FS around Ca2+

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9
Q

Seminoma IHC

A

(+) for Oct3/4 (nuclear), D2-40, c-kit & PLAP (-) for cytokeratin (may be focal or weak), CD30(BerH2), & α-fetoprotein

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10
Q

testicular tumours are more likely to be bilateral in which: seminomatous or non-seminiomatous?

A

non-seminomatous tumours

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11
Q

Testis TNM

A

pTis: Intratubular germ cell neoplasia (carcinoma in situ) pT1: Tumor limited to the testis and epididymis without vascular/lymphatic invasion; tumor may invade tunica albuginea but not tunica vaginalis pT2: Tumor limited to the testis and epididymis with vascular/lymphatic invasion, or tumor extending through the tunica albuginea with involvement of the tunica vaginalis pT3: Tumor invades the spermatic cord with or without vascular/lymphatic invasion pT4: Tumor invades the scrotum with or without vascular/lymphatic invasion

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12
Q

IHC Chromagens? Red and brown?

A

Brown - Diaminobenzidine Pink - aminoethylcarbazole (fast red)

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14
Q

Paratesticular lesions

A

Adenomatoid tumour Fibrous psuedotumour

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14
Q

Hereditary papillary renal cell carcinoma syndrome

A

AD multple bilateral papillary RCC, type 1 Activating mutation in c-MET protooncogene (7q31)

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15
Q

Hereditary leiomyomamatosis and renal cell carcinoma syndrome

A

AD Manifest: leiomyomas of skin and uterus, occ LMS of uterus, RCC Inactivating mutation in fumarate hydratase (FH) (1q42.3-q43) RCCs are aggressive (PRCC type 2 or collecting duc RCC) - usually solitary and unilateral

16
Q

Hyperparathyroidism-jjaw tumour syndrome

A

Mutation in HRPT2, parafibromin 1q21-32 Manifest: hyperparathryroidism and parathyroid tumours, fibroosseous tumours of jaw; renal cysts, hamartomas, RCC, Wilms tumour

17
Q

Familial pediatric renal tumour syndromes

A

WAGR Denys-Drash Beckwith-Weidemann syndrome Familial nephroblastoma Trisomy 18 Perlman syndrome Bloom syndrome Frasier syndrome Klippel-Trenaunay syndrome

18
Q

WAGR

A
  • Wilms tumour, aniridia, genitourinary malformation, mental retardation
19
Q

Denys-Drash syndrome

A

Wilms tumour mesangial sclerosis psuedohermaprhoditism

20
Q

Beckwith-Wiedemann syndrome

A

Wilms tumour, hemihyerptrophy, macorglossia, omphalocele, visceromegaly

21
Q

Classification of fibromatosis

A

Superficial: palmar, plantar, penile Deep: abdominal, extra-abdominal, intra-abdominal

22
Q

Benign mimickers of prostate carcinoma

A

Histo structures: Cowper’s glands, paraganglion, seminal vesicle, mesonephric glands Atrophy, partial atrophy Inflammation Granuloma Xanthoma Malakoplakia

23
Q

Variants of prostatic carcinoma mimicking benign lesions

A

WD prostatic carcinoma - adenosis Atrophic prostatic carcinoma - atrophy Foamy gland prostatic carcinoma - xanthoma PCA with inflammation - inflammation Signet ring PCA - Artifactual changes Pseudohyperplastic PCA - epithelial hyperplasia or HGPIN Clear cell PCA - granuloma Ductal adenocarcinoma - HGPIN

25
Q

Inflammatory myofibroblastic tumour

A

spindled myofbiroblasts, fibroblasts and inflammatory infiltrate loosely arranged in edematous myxoid background with abundant BV and plasma cells, lymphocytes and eosinophils looks like granulations tissue or nodular fasciitis can have fibromatosis like cellular areas can have bulging of spindle cells into vascular spaces or surroundeing BV

26
Q

What specific histological types of breast ca have good prognosis? Poor prognosis?

A

Good: mucinous, tubular ca Bad: metaplastic, micropapillary

27
Q

Fanconi anemia

A

Clinical features:

  • pancytopenia
  • prenatal growth retardation
  • hypoplastic or missing thumbs
  • arm deformation
  • brown pigmentation of skin
  • risk of AML, pgrogressive BM failure

Cytogenetic manifestation: increased chromosome breakage detected by mitomycin C and diepoxybutane

28
Q

Bloom syndrome

A

Clinical manifestation:

  • growht retardation
  • butterfly rash on face

Cytogenetic manifestation: increased siter chromatid exchagne in response to UV from abN DNA ligase activity

29
Q

Angelman syndrome

A

Severe MR, developmental delay, large mouth, prognathia, ataxia, seizures DiGeorge syndrome

30
Q

DiGeorge syndrome

A

Characteristic facies, cleft palate, heart defect, hypoplasia of the thymus and parathyroids, severe hypocalcemia, seizures

CATCH 22

cardiac defect

abnormal facies

thymic hypoplasia

cleft palate

hypercalcemia

22q11

31
Q

Painful cutaneous lesions

A

LEND AN EGG leiomyoma eccrine spiradenoma neuroma dermatofibroma angiolipoma neurolemmoma/schwannoma endometrioma glomangioma granular cell tumour

32
Q

Ichthyosis

A

Scaly skin, short stature, hypogonadism, MR

33
Q

Kallmann syndrome

A

Hypogonadism, inability to smell

34
Q

Langer-Giedion syndrome

A

Craniofacial dysmorphism, skeletal abnormalities, mild to severe mental deficiency

35
Q

Lissencephaly

A

Smooth brain, profound retardation, seizures

36
Q

Miller-Dieker syndrome

A

Lissencephaly, microcephaly, high forehead, small nose, micrognathia, low-set ears

37
Q

Prader-Willi syndrome

A

Hypotonia at birth, almond-shaped eyes, moderate to severe MR, absent sense of satiation leading to overeating, small hands and feet, hypogonadism

38
Q

Retinoblastoma

A

Tumors of the retinoblast cells of the eye

39
Q

Rubinstein-Taybi syndrome

A

Beaked nose, prominent columella, hypoplastic maxilla, downslanted palpebral fissures, broad thumbs and first toes, MR, speech delay

40
Q

Smith-Magenis syndrome

A

Brachycephaly, midface hypoplasia, broad nasal bridge, prominent jaw, short broad hands, hyperactivity, delayed speech, self-destructive behavior, MR

41
Q

Velocardiofacial syndrome

A

Palatal defects, hypoplastic alae nasi with long nose, learning disability, congenital heart disease

42
Q

WAGR

A

Wilms tumor, aniridia, genitourinary defects, and mental retardation

43
Q

Williams syndrome

A

Low IQ, hypersensitivity to sound, blue eyes with stellate pattern in the iris, prominent lips, hoarse voice, supravalvular aortic stenosis or other cardiac defect, hypercalcemia, premature aging of the skin

44
Q

Li-Fraumeni

A

25X greatere chance of devloping a malignant tumour by age 50 Varied spectrum of tumours Sarcomas Breast cancer Leukemia Brain tumours Carcinomas of the adrenal cortex

45
Q

Ataxia telangiectasia

A

Clinical manifestation: ataxia with CNS degeneration, telangiectasia on face, deficiency in cellular immunity, degenerative, growth retardation, leukemias and solid tumours

Cytogenetic” increased spontaneous breakage and increased rings, triradials, and translocations, particularly with 7 and 14, induced with bleomycin or ionizing radiation

46
Q

Xeroderma pigmentosum

A

Clinical manifestations: sensitivity to sun, neurological abnormalities, ataxia and spasticity, melanoma

Cytogenetic: increase in SCE and chromsome rearrangements in response to UV light

47
Q

Cockayne syndrome

A
  • Dwarfism
  • premature aging
  • microcephaly
  • neurological deficit
  • pigmentary degeneration
  • deafness
  • MR
  • increased skin cancer rates
48
Q

Gorlin syndrome

A

PTCH gene, AD, 9q

The major criteria consist of the following:

  • more than 2 BCCs or 1 BCC in a person younger than 20 years;
  • odontogenic keratocysts of the jaw
  • 3 or more palmar or plantar pits
  • ectopic calcification or early (<20 years) calcification of the falx cerebri
  • bifid, fused, or splayed ribs
  • first-degree relative with NBCCS.

The minor criteria include the following:

  • macrocephaly.
  • congenital malformations, such as cleft lip or palate, frontal bossing, eye anomaly (cataract, coloboma, microphtalmia, nystagmus).
  • other skeletal abnormalities, such as Sprengel deformity, pectus deformity, polydactyly, syndactyly or hypertelorism.
  • radiologic abnormalities, such as bridging of the sella turcica, vertebral anomalies, modeling defects or flame-shaped lucencies of hands and feet.
  • ovarian and cardio fibroma
  • medulloblastoma (the latter is generally found in children below the age of two
49
Q

Three syndromes with vascular connective tissue complications.

A
  • Marfan syndrome
  • Leoys Dietz syndrome
  • Ehlers-Danlos syndrome
50
Q

Marfan syndrome

A
  • glycoprotein fibrillin-1, FBN-1, 15q
  • AD
  • Manifestations:
    • skeletal: tall, long extremities and long fingers and toes, lax joints,dolichocephalic, frontal bossing, prominent supraorbital ridging, kyphosisi, scoliois, rotation/ slipping of dorals or lumbar vertebrae, pectus excavatum
    • Ocular: ectopia lentis
    • Cardiovascular: mitral valve prolapse, cystic medionecrosis, aortic incompetence, dissection
    • Skin: laxity of skin
51
Q

Loeys-Dietz syndrome

A
  • TGFBR1 and TGFBR2
  • AD
  • Manifestations:
    • skeletal: pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus
    • Vascular: aortic aneurysms
    • LSD1 ocular hypertelorism, bifid uvula/cleft palate, craniosynostosis
    • LSD2 velvety and translucent skin; easy bruising; widened, atrophic scars
52
Q

Ehlers-Danlos syndrome

A
  • defect in fibrillar collagen
  • six variants:
    • classical (AD)
      • skin and joint hypermobility, atrophic scars, easy bruising
      • protein: type V collagen
    • kyphoscoliosis (AR)
      • hypotonia, jiont laxity, congenital scolioisi, ocular fragility
      • protein: lysyl hydroxylase
    • vascular (AD)
      • thin skin, arterial or utering rupure, bruising, small joint hyperextensibility, bowel perforation
      • protein: type III collagen
    • arthrochalasia (AD)
      • severe joint hypermobility, skin changes, scoliois, bruising
      • protein: type I collagen
    • dermatosparaxsis (AR)
      • severe skin fragility, cutis laxa, bruising
      • protein: procollagen-N-peptidase
  • hypermobility (AD)
    • joint hypermobility, pain, dislocation
53
Q

Fanconi syndrome

A
  • Syndrome of loss of multiple solutes at the proximal convoluted tubule of the kidney
  • The clinical features of proximal renal tubular acidosis are:
    • Polyuria, polydipsia and dehydration
    • Hypophosphatemic rickets (in children) and osteomalacia (in adults)
    • Growth failure
    • Acidosis
    • Hypokalemia
    • Hyperchloremia
  • Other features of the generalized proximal tubular dysfunction of the Fanconi syndrome are:
    • Hypophosphatemia/phosphaturia
    • Glycosuria
    • Proteinuria/aminoaciduria
    • Hyperuricosuria
54
Q

Triad of Wegener’s granulomatosis

A
  1. Acute necrotizing granuloma
  2. Acute necrotizing or granulomatous vasculitis
  3. Renal disease - focal necrotizing crescentic GN
55
Q

Sturge-Weber syndrome

A
  • aka encephalotrigeminal angiomatosis
  • venous angiomatous masses in cortical leptomeninges and ipsilateral facial port wine nevi
  • mental retardation
  • sz
  • hemiplegia
  • skull radioopacities
56
Q

Olser-Weber-Rendu Disease

A
  • aka hereditary hemorrhagic telangiectasia
  • AD
  • telangiectasia - skin and oral mucous membranes, respiratory tract, GI, GU tracts
    *
57
Q

Which hereditary disorders are characterised by angiomyolipoma?

A

NF1

VHL

AD polycystic kidney disease

Tuberous sclerosis

58
Q

Which hereditary disorders are associated with a Wilms’ Tumour?

A

WAGR

Deny-Drash

Beckwith-Wiedemann

Trisomy 18

Multicystic dysplastic kidney

Pathology (11 decks)

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