20 - 121: NEOPLASIAS AND HYPERPLASIAS OF MUSCULAR AND NEURAL ORIGIN Flashcards
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
A
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: B
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: D
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
C. Leiomyosarcoma
Small papules may be detectable within the lesions and are sensitive to transient piloerection following rubbing, as seen in which sign?
Pseudo-Darier sign
Pseudo darier sign is present in this condition
Smooth muscle hamartoma
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
E
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
B. Generalized nuclear enlargement (5 times normal)
The partial or even complete loss of ___ expression in malignant peripheral nerve sheath tumor is one of the most useful distinctions from benign tumors:
S100
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
E
stains for smooth muscle
α-smooth muscle actin (α-SMA), muscle-specific actin, desmin, and h-caldesmon
Benign neoplasm of the skin with smooth muscle differentiation
LEIOMYOMA
Superficial benign smooth muscle tumors deriving from the arrector pili muscles
piloleiomyomas
Superficial benign smooth muscle tumors deriving from smooth muscle tissue of vessel walls
angioleiomyomas
Recent evidence implies that most patients presenting with multiple cutaneous leiomyomas have a germline loss-of-function mutation in what gene?
fumarate hydratase gene (FH)
Major Criteria (High Likelihood of HLRCC) for Hereditary Leiomyomatosis and Renal Cell Carcinoma
Multiple cutaneous leiomyomata with at least 1 biopsy proven/ histologically confirmed
Definitive Diagnosis for Hereditary Leiomyomatosis and Renal Cell Carcinoma
Positive germline FH-mutation test
T/F
cutaneous leiomyomas are not thought to undergo malignant transformation
True
Cutaneous leiomyosarcomas arise de novo
margins of wide local excision of cutaneous leiomyosarcoma
3 cm
- 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
SMOOTH MUSCLE HAMARTOMA
smooth muscle hamartoma has clinical and histopathologic association with what lesion?
nevus of Becker
■ Benign neoplasm of striated muscle presenting as adult, fetal, or genital type.
■ Most commonly located on the head and neck of males.
RHABDOMYOMA
Fetal rhabdomyoma may be associated with what syndrome?
nevoid basal cell carcinoma syndrome
cardiac tumors in rhabdomyomas are associated with what condition?
tuberous sclerosis
most common location of rhabdomyoma
head and neck
Most common soft-tissue sarcoma in children and adolescents.
RHABDOMYOSARCOMA
- 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
traumatic neuroma
the only neural tumor that is S100 negative
Perineurioma
- 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
“rudimentary polydactyly”
most consistent and distinctive clinical manifestation of MEN2B
Multiple mucosal neuromas
genetic mutation in MEN2B
RET gene
- 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
Schwannomas
benign nonencapsulated nerve sheath tumors composed of all elements of a peripheral nerve
Neurofibromas
linked to NF-1 and has a potential for malignant transformation
Plexiform neurofibroma
clinical hallmark of NF-1
plexiform neurofibromas
hallmark of schwannomas
pattern of 2 alternating tissue areas (Antoni A and B)
areas of high cellularity in schwannomas
Antoni A
compact spindle-shaped Schwann cells are arranged in short bundles or interlacing fascicles
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
Verocay body
areas of low cellularity in schwannomas
Antoni B
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
Approximately 60% of sporadic and NF-2–associated schwannomas harbor inactivating mutations of what gene?
NF2 gene
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
Plexiform neurofibromas
Plexiform neurofibroma has a potential for malignant transformation, and is a recognized precursor for what tmor in NF-1 patients?
Malignant peripheral nerve sheath tumor
- stain positive for EMA and negative for S-100 and neurofilament
- Most cases also express GLUT1 and claudin-1
Perineurioma
Neural tumor composed of large granularappearing eosinophilic cells
GRANULAR CELL TUMOR
Most common single anatomic site of granular cell tumor
tongue
