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Syndromes Flashcards

1
Q

What are MDS syndromes?

A

MDS syndromes are irreversible disease of bone marrow stem cells that lead to ineffective and disorderly hematopoiesis characterized by abnormal division, maturation, and production of erythrocytes, granulocytes, monocytes and platelets

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2
Q

At what age are MDS syndromes typically diagnosed?

Sex predilection?

A

60 and 75

Males > females

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3
Q

Symptoms of MDS?

A

Fatigue

Weakness

Malaise

Infections (neutropenia)

Bleeding (thrombocytopenia)

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4
Q

Patients that present with splenomegaly may also have what underlying condition?

A

CMML

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5
Q

Name 4 MDS with refractory in the name?

A

Refractory anemia

Refractory anemia with ring sideroblasts (RARS)

Refractory cytopenia with multilineage dysplasia (RCMD)

Refractory anemia with excess blasts (RAEB)

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6
Q

Name 4 additional MDS syndromes begining with 5q-

A

5q-syndrome

Therapy-related MDS and therapy-related AML

MDS, unclassifiable

CMML

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7
Q

Gastrinoma (pancreas, duodenum, stomach or upper jejunum)

Massive gastric acid-hypersecretion with elevated basal serum gastrin levels (above 200 pmol/L)

Peptic ulceration; ulcers frequently multiple and occur in unusual site

A

Zollinger-Ellison Syndrome

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8
Q

HAD neurocutaneous syndrome characterized by hemangioblastomas (cerebellar and retinal), visceral cysts and tumors

A

von Hippel-Lindau

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9
Q

What is chromosomal mutation of vHL syndrome?

A

Mutations on chromosome 3p25-26 encodes pVHC protein that forms complex with tumor suppressor function

vHL abbreviated with 3 letters for chromosome 3

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10
Q

Name two papillary associations with vHL

A

Endolymphatic sac tumor (aggressive papillary middle-ear tumor)

Epididymis (papillary cystadenoma)

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11
Q

Name 4 other tumors associated with vHL?

NPRA

A

Neurofibroma

Pheo

RCC

Angiomyolipoma

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12
Q

HAD neurocutaneous syndrome characterized by cutaneous and neurological manifestations (mental retardation and seizures) and tumors?

A

Tuberous Sclerosis

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13
Q

What are mutations of TSC?

A

Mutations in either chromosome

9q34 (TSC1)

16p13 (TSC2)

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14
Q

What are cutaneous manifestations of TSC?

A

Angiomas

Adenoma sebaceum

A sh-leaf spots

Shagreen patches

Cafe-au-lait spots

Fibromas (trunk, gingivae, periungual region, hairline and eyebrows)

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15
Q

What are neurologic manifestations?

A

Neurologic manifestations:

Seizures

Mental retardation

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16
Q

Capillary-venous lesions on face (port-wine stain), a special type of nevus flammeus, always include portion innervated by ophthalmic division of trigenimal nerve and leptomeninges

What Syndrome?

A

Sturge-Weber

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17
Q

What is the spinal counterpart associated with limb enlargement called?

A

Klippel-Trenaunay-Weber

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18
Q

What is the chromosome for NF II

A

22q12

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19
Q

What is the protein of NFII

A

Merlin

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20
Q

Bilaterla 8th cranial nerve (vestibular branch of acoustic nerve) schwannomas are diagnostic of?

A

NF II

21
Q

Other things associated with NF II

A

Unilateral 8th cranial nerve schwannoma and any 2 of the following:

Neurofibroma

Meningioma

Glioma

Schwannoma

Juvenile posterior subcapsular lenticular opacity/juvenile cortical cataract

NF II associated central nervous system lesions:

Multiple glial microharmartomas

Spinal cord cellular ependymal ectopias

Syringomelia

22
Q

What syndrome is characterized by the following?

6 or more cafe-au-lait macules over 5 mm in greates diameter in a prepubertal patient, and over 15 mm in greatest diameter in a postpubertal individual

2 or more neurofibromas of any type or 1 plexiform neurofibroma

Presence of freckles in the axillary or inguinal region

Optic glioma (tumor of optic pathway)

2 or more Lisch nodules (benign pigmented iris hamartomas)

An osseous lesion such as a sphenoid dysplasia or thinning of long bone cortex with or without pseudoarthrosis

A

NF I

23
Q

What is the chromosome of NF I

A

17q1.2

24
Q

What is the protein lost in NF I

A

Neurofibromin

25
Q

What are some NF I associated tumors?

A

NF-1 associated tumors:

Bilateral pheochromocytoma

Angiomyolipoma

RMS

Duodenal paraganglioma and carcinoid tumor

Somatostinoma

Ganglioneuroma

Juvenile chronic myelogenous leukemia

Juvenile xanthogranulomas

Non-ossifying fibroma

26
Q

What Syndrome?

Germ line mutation in ret protooncogene, which is a tyrosine kinase receptor that is constitutively activated, causing a gain of function (chromosome 10q11)

C cell hyperplasia, medullary carcinoma (bilateral) 100%

Adrenal medullary hyperplasia, pheochromocytoma

Parathyroid hyperplasia, adenoma

Chief cell hyperplasia or multiglandular adenomas

Conservative surgery to remove only the enlarged glands

Cutaneous lichen amyloidosis (2nd to repeated scratching of neurological pruritis)

A

MEN IIA

Sipple Syndrome

Williams Syndrome

27
Q

C cell hyperplasia —> medullary carcinoma

Adrenal medullary hyperplasia —> pheo

GI and ocular ganglioneuromas

Marfanoid habitus

Characteristic facies:

Soft tissue prognathism

Bumpy lips

Broad base of nose

Everted eyelids

Low set ears

Bowel dysfunction (diarrhea, constipation)

A

MEN IIB (III)

28
Q

Encoded protein called menin that is a tumor suppressor (11q13)

Parathyroid hyperplasia (15% present with 5 glands)

Pancreatic (dysplasi and tumor)

Pituitary adenomas

Adrenocortical tumors

Thyroid (adenomas)

Bronchi (carcinoid tumors)

Thymus (males)

Stomach

Subcutaneous (lipomas)

A

MEN 1 (Wermer Syndrome)

29
Q

Mutation of GNAS 1 gene causes?

A

McCune-Albright Syndrome

30
Q

What chromosome is GNAS1 located?

A

20q13

31
Q

What are clinical manifestations of McCune Albright syndromes?

A

Polyostotic fibrous dysplasia

Multiple endocrinopathies

Sexual precocity

Pituitary adenoma (acromegaly)

Adrenocortical adenoma (Cushing)

Hyperthyroidism

Hyperparathyroidism

Other reported abnormalities

GI polyps, hyperplasia of spleen, thymus and pancreatic islets

Hepatobiliary disease, cardiac disease, failure to thrive, metabolic acidosis, abnormalities in serum electrolites, glucose or insulin levels; hyperphosphaturic hypophosphatemia; malignant bone tumors’ benign bone tumors; developmental delay, microcephaly, sudden or premature death, mucoceles of head and neck, cutaneous pigmentation, intramuscular myxoma

32
Q

Clinical manifestations of Mazabraud Syndrome

A

Polyostotic fibrous dysplasia

Soft tissue (usually intramuscular) myxoma

33
Q

SBLA syndrome (sarcoma, breast cancer, leukemia, and adrenocortical cancer)

HAD

?

A

Li-Fraumeni

34
Q

What is mutation and what chromosome of Li-Fraumeni Syndrome

A

Affected family members carry a p53 mutation located on chromosome 17p13 in all somatic cells

35
Q
A
36
Q

What are diagnostic considerations of Li-Fraumeni syndrome?

A

Diagnostic criteria:

Occurrence of sarcoma before age 45

At least 1 1st degree relative with any cancer before 45

A 1st (or 2nd) degree relative with cancer before age 45 or sarcoma at any age

37
Q

In a child, what tumor is almost diagnostic of Li-Fraumeni Syndrome?

A

Adrenocortical carcinoma

38
Q

What syndrome is associated with:

Skeletal anomalies, lamellar calcium deposition in the falx cerebri and diaphragma sellae

Cutaneous epidermoid cysts

Bifid ribs and vertebral anomalies

Pits on the palms and sole

Odontogenic keratocysts

Calcifying ovarian fibromas

Multifocal basal cell carcinomas occurring at an early age

Medulloblastoma (usually develops before age of 5 and occurs in 3% to 5% of patients)

A

Gorlin Syndrome (NBCCS)

Nevoid Basal Cell Carcinoma Syndrome

39
Q

Where is the tumor suppresor gene associated with Gorlin syndrome located?

A

9q

40
Q

A strong predisposition to medullary thyroid cancer without the other clinical manifestations of MEN IIA or MENIIB is called?

A

Familial Medullary-Thyroid Cancer

41
Q

Medulloblastoma

Mental and growth retardation

Joint laxity

Branchydactyly of 5th digit with hypoplasia/aplasia of nail bed

A

Coffin-Siris Syndrome

42
Q

Gastric epithelial leiomyosarcoma

Pulmonary chondroma

Functioning extra-adrenal paraganglioma

A

Carney Triad

43
Q

What is the HAD mutation in Carney Syndrome?

A

PRKAR1A

type 1x regularoty subunit of a protein kinase that acts on a tumor suppressor gene on chromosome 17q22-24 in 50%

44
Q

What are clinical manifestations of Carney Syndrome?

A

Myxomas: Cardiac, skin, breast

Lentiginosis and blue nevi

Endocrine tumors

Large-cell calcifying Sertoli cell tumor

Steroid-type tumor

Pituitary adenoma

Schwannomas especiallly psammomatous melanotic schwannomas

45
Q

Hemihypertrophy

Organomegaly

Exophthalmos and macroglossia

Omphalocele

Increased risk of hepatoblastoma and rhabdomyosarcoma

Renal pathology

Predisposition to develop Wilms tumor

Renal medullary cysts

Mesoblastic nephroma

Adrenal pathology

Enlarged adrenal glands with cortical cytomegaly

Adrenal cortical carcinoma

Neuroblastoma

Pancreatic pathology

Pancreatic islet cell hyperplasia

Pancreatoblastoma

A

Beckwith-Wiedemann Syndrome

46
Q

What chromosome is affected in Beckwith-Wiedemann Syndrome

A

11p15

47
Q

Characterized by cerebellar ataxia (hallmark of disease)

Patients are unable to walk by the age of 10

Oculocutaneous telangiectasia

Progeric skin changes

Immune dysfunction

Increased cancer susceptibility

A

Ataxia Telangiectasia

48
Q

ATM gene is located on what chromosome?

A

11q22-23

Syndromes (1 decks)

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