20 - 121: NEOPLASIAS AND HYPERPLASIAS OF MUSCULAR AND NEURAL ORIGIN

Question 1

This is a major criterion in the diagnosis of hereditary leiomyomatosis and renal cell carcinoma (HLRCC).

a. Multiple cutaneous leiomyomata with at least 1 biopsy proven/ histologically confirmed
b. Solitary cutaneous leiomyoma and family history of HLRCC
c. Symptoms may be paroxysmal with worsening by light touch, temperature, or hormonal change
d. Positive germline FH-mutation test

Answer 1

A

Question 2

This is a minor criterion in the diagnosis of hereditary leiomyomatosis and renal cell carcinoma (HLRCC).

a. Multiple cutaneous leiomyomata with at least 1 biopsy proven/ histologically confirmed
b. Solitary cutaneous leiomyoma and family history of HLRCC
c. Symptoms may be paroxysmal with worsening by light touch, temperature, or hormonal change
d. Positive germline FH-mutation test

Answer 2

Answer: B

Question 3

This is required in the definitive diagnosis of hereditary leiomyomatosis and renal cell carcinoma .

a. Multiple cutaneous leiomyomata with at least 1 biopsy proven/ histologically confirmed
b. Solitary cutaneous leiomyoma and family history of HLRCC
c. Symptoms may be paroxysmal with worsening by light touch, temperature, or hormonal change
d. Positive germline FH-mutation test

Answer 3

Answer: D

Question 4

This tumor presents with a firm nodule with hyperpigmentation and erythema of the involved skin, most commonly in hair-bearing areas of lower extremities, scalp, and trunk. It may develop as secondary malignancy in the setting of hereditary retinoblastoma, alterations of the retinoblastoma 1 (Rb1) locus

A. Leiomyoma

B. Angioleiomyoma

C. Leiomyosarcoma

D. Smooth muscle hamartoma

Answer 4

C. Leiomyosarcoma

Question 5

Small papules may be detectable within the lesions and are sensitive to transient piloerection following rubbing, as seen in which sign?

Answer 5

Pseudo-Darier sign

Question 6

Pseudo darier sign is present in this condition

Answer 6

Smooth muscle hamartoma

Question 7

Which immunochemical stain/s is/are strongly and diffusely expressed in virtually all piloleiomyomas:

A. H-Caldesmon

B. Desmin

C. Muscle-specific actin

D. B and C

E. All of the above

Answer 7

E

Question 8

Delineation of MPNST from a benign variant includes the following except:

A. Marked cell crowding

B. Generalized nuclear enlargement (5 times normal)

C. Nuclear hyperchromasia

D. Mitotic rate greater than 5 per 10HPF

E. None of the above

Answer 8

B. Generalized nuclear enlargement (5 times normal)

Question 9

The partial or even complete loss of ___ expression in malignant peripheral nerve sheath tumor is one of the most useful distinctions from benign tumors:

Answer 9

S100

Question 10

Risk factors for metastatic spread of leiomyosarcoma

A. Tumor size

B. Degree of subcutaneous involvement

C. High histologic grade

D. B and C

E. All of the above

Answer 10

E

Question 11

stains for smooth muscle

Answer 11

α-smooth muscle actin (α-SMA), muscle-specific actin, desmin, and h-caldesmon

Question 12

Benign neoplasm of the skin with smooth muscle differentiation

Answer 12

LEIOMYOMA

Question 13

Superficial benign smooth muscle tumors deriving from the arrector pili muscles

Answer 13

piloleiomyomas

Question 14

Superficial benign smooth muscle tumors deriving from smooth muscle tissue of vessel walls

Answer 14

angioleiomyomas

Question 15

Recent evidence implies that most patients presenting with multiple cutaneous leiomyomas have a germline loss-of-function mutation in what gene?

Answer 15

fumarate hydratase gene (FH)

Question 16

Question 17

Major Criteria (High Likelihood of HLRCC) for Hereditary Leiomyomatosis and Renal Cell Carcinoma

Answer 17

Multiple cutaneous leiomyomata with at least 1 biopsy proven/ histologically confirmed

Question 17

Definitive Diagnosis for Hereditary Leiomyomatosis and Renal Cell Carcinoma

Answer 17

Positive germline FH-mutation test

Question 18

Question 19

T/F

cutaneous leiomyomas are not thought to undergo malignant transformation

Answer 19

True

Cutaneous leiomyosarcomas arise de novo

Question 20

margins of wide local excision of cutaneous leiomyosarcoma

Answer 20

3 cm

Question 21

• Hyperplasia of dermal smooth muscles fibers giving rise to a rare hamartoma
• Solitary flesh-colored patch or plaque typically occurring in the lumbar region during childhood or early adolescence.
• Follicular prominence, hypertrichosis, and variable pigmentation are frequent.
• typically presents as skin-colored or lightly pigmented patch or plaque measuring up to 10 cm in diameter with a predilection for the lumbar region of the trunk, the buttocks, and the proximal extremities

Answer 21

SMOOTH MUSCLE HAMARTOMA

Question 22

smooth muscle hamartoma has clinical and histopathologic association with what lesion?

Answer 22

nevus of Becker

Question 23

■ Benign neoplasm of striated muscle presenting as adult, fetal, or genital type.

■ Most commonly located on the head and neck of males.

Answer 23

RHABDOMYOMA

Question 24

Fetal rhabdomyoma may be associated with what syndrome?

Answer 24

nevoid basal cell carcinoma syndrome

Question 25

cardiac tumors in rhabdomyomas are associated with what condition?

Answer 25

tuberous sclerosis

Question 26

most common location of rhabdomyoma

Answer 26

head and neck

Question 27

Most common soft-tissue sarcoma in children and adolescents.

Answer 27

RHABDOMYOSARCOMA

Question 28

* regenerative proliferations that result after sectioning or traumatization of a nerve in any way so that its continuity cannot be reestablished. * disorganized proliferation of the proximal nerve * present as firm, oval, flesh-colored, occasionally painful papules or nodules in the subcutis or deeper soft tissues. * They occur at sites of previous trauma, in amputation stumps, and in scars

Answer 28

traumatic neuroma

Question 29

the only neural tumor that is S100 negative

Answer 29

Perineurioma

Question 30

* nodular tumor that rarely appears on the ulnar surface of the proximal fifth finger and contains a disordered proliferation of nerve fascicles analogous to a classical conventional neuroma

Answer 30

“rudimentary polydactyly”

Question 31

most consistent and distinctive clinical manifestation of MEN2B

Answer 31

Multiple mucosal neuromas

Question 32

genetic mutation in MEN2B

Answer 32

RET gene

Question 33

* benign encapsulated nerve sheaths neoplasms derived from the proliferation of Schwann cells and lack axon * Sites of predilection include the peripheral nerves at the flexor sites of the upper and lower extremities, followed by the cranial and cervical nerves, particularly the division of the eighth cranial nerve, which gives rise to vestibular schwannomas (formerly known as acoustic neuromas). 97 They also occur in spinal roots and on the tongue

Answer 33

Schwannomas

Question 34

benign nonencapsulated nerve sheath tumors composed of all elements of a peripheral nerve

Answer 34

Neurofibromas

Question 35

linked to NF-1 and has a potential for malignant transformation

Answer 35

Plexiform neurofibroma

Question 36

clinical hallmark of NF-1

Answer 36

plexiform neurofibromas

Question 37

hallmark of schwannomas

Answer 37

pattern of 2 alternating tissue areas (Antoni A and B)

Question 38

areas of high cellularity in schwannomas

Answer 38

Antoni A ## Footnote compact spindle-shaped Schwann cells are arranged in short bundles or interlacing fascicles

Question 39

formed by a horizontal arrangement of 2 rows of elongated palisading nuclei that are separated by acellular zones made up of stacked cytoplasmic processes of the tumor cells

Answer 39

Verocay body

Question 40

areas of low cellularity in schwannomas

Answer 40

Antoni B ## Footnote consist of widely separated and haphazardly arranged spindle or oval tumor cells in a loosely textured myxoid matrix with delicate collagen fibers and large, irregularly spaced, partially thrombosed blood wells with thickened walls caused by dense fibrosis

Question 41

Approximately 60% of sporadic and NF-2–associated schwannomas harbor inactivating mutations of what gene?

Answer 41

NF2 gene

Question 42

characterized by diffuse involvement of a long nerve segment and its branches, forming bag-like or pedunculated rope-like masses that feel similar to a “bag of worms” on palpation

Answer 42

Plexiform neurofibromas

Question 43

Plexiform neurofibroma has a potential for malignant transformation, and is a recognized precursor for what tmor in NF-1 patients?

Answer 43

Malignant peripheral nerve sheath tumor

Question 43

* stain positive for EMA and negative for S-100 and neurofilament * Most cases also express GLUT1 and claudin-1

Answer 43

Perineurioma

Question 43

Neural tumor composed of large granularappearing eosinophilic cells

Answer 43

GRANULAR CELL TUMOR

Question 44

Most common single anatomic site of granular cell tumor

Answer 44

tongue