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Файл:Ординатура / Хирургия / Библиотека им академика М.И. Перельмана / Книга_5204_Библиотеки_им_академика_М_И_Перельмана.pdf
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Fig. 3.2 (a) Adult-type rhabdomyoma characterized by uniform large epithelioid cells with abun-
dant eosinophilic cytoplasm and central small nuclei, in a 69-year-old female, with a slowly growing mass in the laryngopharynx since about 10 years. (b) Desmin positivity in adult-type
rhabdomyoma
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Fig. 3.3 Schematic representation of fetal rhabdomyoma: roundish and spindle cell progenitors in
a myxoid stroma with focal mature muscle bers
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Age at Presentation FRM may be congenital, or may present after birth, within
the rst three years of age. Mean age: 4years.
Gender Males predominate.
Localization The head and neck are most frequently involved. The trunk, hands,
feet, larynx, and the perianal region may also be affected. Rarely, FRM may originate in the tonsil, presenting as a polyp.
Clinical Course
Benign lesion. Rare recurrences are due to incomplete excision.
Macroscopy Well-circumscribed mass.
Microscopy The histological picture often recapitulates fetal development of skel-
etal muscle. Immature spindle mesenchymal progenitor cells, spindle cells with
abundant eosinophilic cytoplasm, myotubes, rhabdomyoblasts, myocytes, and muscle cells with evident cross striation may be all observed in variable proportions.
Tumor cells are often embedded in a myxoid stroma. The tumor is often wellvascularized, with very prominent thin vessels. No atypia, no intratumoral necrosis,
no nuclear polymorphism. Mitoses can be present (Fig.3.4a, b).
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b
Fig. 3.4 (a, b) Fetal rhabdomyoma occurring as a 9cm subcutaneous mass in the neck of a male
newborn, at low power eld (a) and high power eld (b), showing immature roundish/spindle
mesenchymal progenitor cells, spindle cells, rhabdomyoblasts, myocytes, and muscle cells with
evident cross variation in short fascicles, all embedded in a myxoid stroma, (c) Desmin expression
in fetal rhabdomyoma
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c
Fig. 3.4 (continued)
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Variants (1) Bland immature primitive spindle cells, embedded in a myxoid
stroma, characterize the classical variant; (2) The cellular “intermediate” variant
is characterized by a high cellularity, immature spindle cells in fascicles, eosinophilic spindle cells, and scattered rhabdomyoblasts.
Immunohistochemistry Tumor cells are desmin positive (Fig.3.4c) and diffusely
reactive for muscle-specic actin. Scattered myogenin positive differentiated rhabdomyoblasts are often detected.
Molecular Genetics No specic molecular changes. Mutations in the Hedgehog
pathway have been occasionally reported.
Prognosis Benign lesion. Complete surgical excision is curative. Local recur-
rences are uncommon.
Differential Diagnosis (1) Embryonal or spindle cell rhabdomyosarcoma: the
presence of nuclear atypia and invasion favor the diagnosis of rhabdomyosarcoma.
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Genital Rhabdomyoma (Fig.3.5)
Denition Rare benign tumor, with skeletal muscle differentiation, localized in the
genitalia.
Age at Presentation Middle-aged women, mean age 45years.
Gender Females predominate. Rare cases have been described in males.
Localization Vagina > vulva > cervix. Rarely in the epididymis.
Clinical Course Solitary, nodular, or polypoid submucosal mass. Bleeding may be
the presenting symptom.
Macroscopy Nodular or polypoid tumor, well circumscribed (usually <2cm).
Microscopy A spindle cell proliferation, arranged in fascicles, with abundant
eosinophilic cytoplasm and occasional cross striations is seen. Eosinophilic large
tumor cells are embedded in a loose brous stroma. No mitoses, nor signicant
atypia (Fig.3.6).
Immunohistochemistry Tumor cells are immunoreactive for the classical skeletal
muscle markers.
Fig. 3.5 Schematic representation of genital rhabdomyoma: rhabdomyoblasts, immature spindle
cells, and mature striated muscle cells
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Fig. 3.6 Genital rhabdomyoma, characterized by spindle cells proliferation arranged in short fas-
cicles and eosinophilic large tumor cells embedded in a loose brous stroma, from the vagina of a
35-year-old woman
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Molecular Genetics No specic changes.
Prognosis Benign lesion, complete excision is curative.
Differential Diagnosis (1) Embryonal rhabdomyosarcoma: nding of atypia, fre-
quent mitotic gures, and a cambium layer, associated with lower age at presentation, are in favor of the diagnosis of embryonal rhabdomyosarcoma.
Embryonal Rhabdomyosarcoma (Fig.3.7)
Denition The most frequent sarcoma in children, and the most frequent subtype
of rhabdomyosarcoma, showing embryonic skeletal muscle features.
Age at Presentation Children, 3–12years.
Gender Slight male predominance.
Localization Head and neck > genitourinary tract > liver > retroperitoneum >
nasopharynx > biliary tract.
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Fig. 3.7 Schematic representation of embryonal RMS: rhabdomyoblasts with large atypical
nuclei embedded in a myxoid stroma
R. Sciot et al.
Clinical Course Good prognosis, and responsiveness to chemotherapy even in the
presence of metastasis.
Macroscopy Ill-dened, friable mass, white in color. In the typical presentation, it
appears as a polyp originating beneath the mucosa of the nose, upper respiratory
tract, bladder, or vagina.
Microscopy
Heterogeneity of tumor cells characterizes this tumor. A mixture of
undifferentiated spindle and round cells surrounded by a myxoid stroma, with occasional more differentiated elongated cells with eosinophilic cytoplasma and cross
striations, characterizes the conventional variant. Tumor cells show the tendency to
aggregate around vascular structures (Fig.3.8a).
Variants (1) Botryoid variant: is characterized by a polypoid, grape-like appear-
ance and by a cambium layer, i.e., the presence of foci of tumor cells densely aggregated beneath the mucosal surface (Fig. 3.8b, c); (2) Anaplastic variant: it is
characterized by the presence of abundant very atypical tumor cells, atypical mitotic
gures, and sometimes by heterologous chondroid differentiation (Fig.3.8d, e).
Immunohistochemistry Desmin and muscle-specic actin are widely expressed.
Immunostaining for myogenin is often focal, being more strong in the nuclei of
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undifferentiated tumor cells and absent in more differentiated cells. Myogenin
expression in embryonal RMS is typically less prominent than in the alveolar
subtype.
Molecular Genetics Numerical chromosomal changes and allelic loss of 11p15
are frequent in embryonal RMS.Aberrations of the RAS/AKT pathway have been
described as well.
Prognosis Prognosis is excellent, with 70% disease-free survival in general.
Chemotherapy (often inducing skeletal muscle differentiation (Fig.3.8f`)), surgery,
and radiotherapy are involved. The stage (lungs, lymph nodes, liver, brain are the
most frequent metastatic sites) and age at diagnosis are most important for prognosis. Children of 1 to 9years show a better outcome. The type and site are also important. The botryoid variant has the best prognosis and the anaplastic variant the
worse. The orbita and the paratesticulum are prognostically the best sites.
a
Fig. 3.8 (a) Embryonal RMS with a mixture of undifferentiated spindle and round cells sur-
rounded by a myxoid stroma. Note the atypical nuclei. (b) Botryoid variant of embryonal RMS:
tumor cells are overcrowded beneath the epithelial surface, forming a “cambium” layer, from a
cervical polypoid lesion of a 46-year-old female. (c) Positive immunohistochemistry for myogenin
in the botryoid variant of embryonal RMS. (d) Anaplastic variant of embryonal RMS characterized
atypical tumor cells and atypical mitotic gures. (e) Anaplastic variant of embryonal RMS with
chondroid differentiation. (f) Embryonal RMs after chemotherapy
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c
Fig. 3.8 (continued)
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d
e
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Fig. 3.8 (continued)