DWI BUDHI SUSANTO

CASE REPORT
• A 45-YEAR-OLD MAN WAS REFERRED TO
THE AUTHORS’ INSTITUTION IN DESEMBER
1994 BECAUSE OF A RECURRENT TUMOR ON
THE RIGHT FEMUR.

• TWO YEARS PREVIOUSLY THE PATIENT HAD

AN EXCISION OF A BONE TUMOR IN RIGHT

PROXIMAL FEMUR → ALLOGENEIC BONE

GRAFTS (+), AND PROPHYLACTIC INTERNAL
FIXATION WITH A NAIL PLATE (+)
CASE REPORT
• THE HISTOLOGIC FEATURES OF THE
SURGICAL SPECIMEN SHOWED A
FIBROBLASTIC PROLIFERATION
SUGGESTING FIBROUS DYSPLASIA
 CASE REPORT
• IN JUNE 1994 → A PATHOLOGIC FRACTURE OF THE RIGHT
FEMORAL NECK

•2NDOPERATION WITH EXCISION OF THE RECURRENT

TUMOR AND SUBTROCHANTERIC OSTEOTOMY WAS
PERFORMED

• 6 MONTHS AFTER THE 2 OPERATION → PAIN IN HIS

ND

RIGHT HIP AND NEEDED CRUTCHES FOR AMBULATION.

• A RADIOGRAPH OF THE HIP → OSTEOLYTIC LESIONS IN

THE RIGHT PROXIMAL FEMUR WITH CORTICAL
DESTRUCTION AND INTERNAL FIXATION OF THE HIP WITH
A SLIDING HIP SCREW PLATE

• THE LABORATORY STUDIES WERE UNREMARKABLE,

EXCEPT FOR AN ELEVATED SERUM ALKALINE
PHOSPHATASE
 CASE REPORT
• AN OPEN BIOPSY WAS PERFORMED ON DECEMBER 28,
1994

• ON HISTOLOGIC EXAMINATION, THE TUMOR WAS

CELLULAR AND COMPOSED OF MANY LARGE ROUND
OR OVOID PLEOMORPHIC CELLS WITH
HYPERCHROMATIC NUCLEI AND EOSINOPHILIC CLEAR
CYTOPLASM

• THE HISTOLOGIC DIAGNOSIS WAS PLEOMORPHIC

RHABDOMYOSARCOMA OF BONE.
 CASE REPORT
• AFTER FOUR COURSES OF CHEMOTHERAPY WITH
INTRAVENOUS ADRIAMYCIN AND INTRAARTERIAL
CISPLATIN, THE PATIENT → A WIDE RESECTION OF
THE TUMOR AND RECONSTRUCTION OF THE DEFECT
WITH AN ALLOGRAFT AND PROSTHETIC COMPOSITE
• THE RESECTED SPECIMEN → NO RESIDUAL TUMOR
WITH TOTAL TUMOR NECROSIS
• ADJUVANT CHEMOTHERAPY WITH CISPLATIN WAS
GIVEN CONTINUOUSLY
• 4 YEARS AFTER SURGERY → FUNCTIONALLY WELL
AND WAS FREE OF TUMOR RECURRENCE AND
DISTANT METASTASIS
DISCUSSION
• THE REPORTED CASES OF RHABDOMYOSARCOMA OF THE BONE WERE MOSTLY SECONDARY
INVOLVEMENT OF SOFT TISSUE TUMORS OR METASTATIC LESIONS.

• THE BONE INVOLVED IS A MANIFESTATION OF BONY METASTASIS OF A SOFT TISSUE

RHABDOMYOSARCOMA → THE PRIMARY FOCUS SHOULD BE OBVIOUS, AND THE METASTATIC SITES
MAY BE MULTIPLE.

• IF THE BONY MANIFESTATION IS CAUSED BY DIRECT INVASION OF A SOFT TISSUE

RHABDOMYOSARCOMA → THE MASS IN THE INVOLVED BONE IS SMALL IN PROPORTION TO THE
PRIMARY SOFT TISSUE MASS.

• THE CASE → AN INTRAOSSEOUS TUMOR IN THE PROXIMAL FEMUR WITH A SMALL SOFT TISSUE MASS
→ PRIMARY RHABDOMYOSARCOMA OF BONE.
DISCUSSION

• RHABDOMYOSARCOMA → ONE OF THE TUMOR COMPONENTS IN BONE SARCOMAS, SUCH AS

DEDIFFERENTIATED CHONDROSARCOMA OR MALIGNANT MESENCHYMOMA.
DEFINITION
• TUMORS OF SOFT TISSUES INCLUDE A NUMBER OF CATEGORIES, 1 OF WHICH IS
SKELETAL MUSCLE TUMORS

• SKELETAL MUSCLE TUMORS ARE SUBDIVIDED INTO BENIGN (RHABDOMYOMA

[ADULT TYPE, FETAL TYPE, AND GENITAL TYPE]) AND MALIGNANT (EMBRYONAL
RHABDOMYOSARCOMA [RMS], ALVEOLAR RMS, SPINDLE CELL OR SCLEROSING
RMS, AND ANAPLASTIC OR PLEOMORPHIC RMS)

• ANAPLASTIC (PLEOMORPHIC) RMS IS RARE AND SHOWS ANAPLASTIC CELLS IN

AGGREGATES OR DIFFUSE SHEETS THROUGHOUT THE TUMOR
BIOLOGY
• HARD AND SOFT TISSUES ARE THE KEY COMPONENTS OF THE MUSCULOSKELETAL SYSTEM.
• RMS IS SOFT TISSUE SARCOMA (STS) THAT ARISES FROM PRIMITIVE MESENCHYMAL
CELLS/MYOGENIC PRECURSOR CELLS AND DEMONSTRATES EVIDENCE OF SKELETAL
MUSCLE DIFFERENTIATION

• RMS CAN DEVELOP IN ALMOST ANY PART OF THE BODY, INCLUDING THE GENITOURINARY
SYSTEM, HEAD AND NECK, EXTREMITIES, RETROPERITONEUM, AND OTHER SITES (E.G.,
THORACIC CAVITY, AXILLARY REGION, SACRAL REGION, AND BILIARY TRACT).

• ANAPLASTIC (PLEOMORPHIC) RMS ARE COMMONLY FOUND IN THE EXTREMITIES (>65%)

EPIDEMIOLOGY
• ANAPLASTIC (PLEOMORPHIC) RMS USUALLY OCCURS IN MIDDLE-
AGED MEN INVOLVING THE EXTREMITIES (ESPECIALLY THE
THIGH) AND OCCASIONALLY IN CHILDREN < 6 YEARS, INVOLVING
THE LOWER EXTREMITY, RETROPERITONEUM, HEAD AND NECK.

• ON THE WHOLE, A MALE PREDOMINANCE (1.5–2:1) IS NOTED AMONG

RMS PATIENTS.
PATHOGENESIS
• BESIDES CERTAIN CHEMOTHERAPEUTIC AGENTS, IONIZING RADIATION, AND PARENTAL
RECREATIONAL DRUG USE, RMS IS ASSOCIATED WITH SEVERAL FAMILIAL
SYNDROMES (E.G., LI–FRAUMENI SYNDROME [INVOLVING GERMLINE MUTATIONS OF
THE P53 TUMOR SUPPRESSOR GENE], BECKWITH–WIEDEMANN SYNDROME [INVOLVING
ABNORMALITIES ON 11P15], COSTELLO SYNDROME, NOONAN SYNDROME, AND
NEUROFIBROMATOSIS TYPE 1) AND ABERRANT DNA METHYLATION [4–6].

• ANAPLASTIC (PLEOMORPHIC) RMS SHOWS NUMERICAL AND UNBALANCED

STRUCTURAL ABNORMALITIES, INCLUDING GAINS (CHROMOSOMES 1, 5, 8, 14, 18, 20,
AND 22) AND LOSSES (CHROMOSOMES 2, 5, 6, 10, 11, 13–19, AND Y) [5].

• FURTHER, ANAPLASTIC (PLEOMORPHIC) SHOWS AMPLIFICATION OF JUN (1P31), MYC

(8Q24), CCND1 (11Q13), INT2 (11Q13.3), MDM2 (12Q14.3–Q15), AND MALT (18Q21)
CLINICAL FEATURES

• DEPENDING ON THE LOCATION, CLINICAL SYMPTOMS OF RMS INCLUDE

PERSISTENT LUMP OR SWELLING; FEVER; HEADACHE; NAUSEA; VOMITING;
DIAGNOSIS
• RMS IS A RELATIVELY LARGE TUMOR (>5 CM IN 47% CASES), WITH LYMPH NODE
INVOLVEMENT (IN 19% CASES) AND METASTASIS (IN 34% CASES).

• DIAGNOSISAND IDENTIFICATION OF RMS SUBTYPES (E.G., ALVEOLAR, ANAPLASTIC,

EMBRYONAL, SCLEROSING, AND MIXED) RELY ON HEMATOXYLIN AND EOSIN (H&E),
IMMUNOHISTOCHEMISTRY, AND/OR ELECTRON MICROSCOPY.

• ANAPLASTIC (PLEOMORPHIC) RMS IS MORE COMMON IN THE ADULT POPULATION THAN

IN CHILDREN, AND CONTAINS RHABDOMYOBLASTS WITH LARGE, LOBULATED, AND
HYPERCHROMATIC NUCLEI; ATYPICAL MITOSES; AND FOCAL OR DIFFUSE ANAPLASIA (IN
13% OF EMBRYONAL RMS AND ALVEOLAR RMS)
TREATMENT
• TREATMENT OPTIONS → SURGERY, RADIOTHERAPY, AND CHEMOTHERAPY
• SURGICAL REMOVAL OF THE ENTIRE TUMOR (WITH A SURROUNDING MARGIN OF NORMAL
TISSUE AND SAMPLING OF POSSIBLY INVOLVED LYMPH NODES IN THE DRAINING NODAL BASIN,
AND WITHOUT FUNCTIONAL AND COSMETIC IMPAIRMENT) REPRESENTS THE OPTIMAL LOCAL
CONTROL MANAGEMENT FOR RMS.

• A SECOND OPERATIVE PROCEDURE (PRIMARY RE-EXCISION) → PATIENTS WITH MICROSCOPIC

RESIDUAL TUMOR AFTER THEIR INITIAL EXCISIONAL PROCEDURE, AND ADJUNCT
CHEMOTHERAPY (E.G., CYCLOPHOSPHAMIDE/VINCRISTINE/DACTINOMYCIN) → A COMPLETE
REMISSION.

• RADIOTHERAPY → EFFECTIVE LOCAL CONTROL METHOD → PATIENTS WITH MICROSCOPIC OR

GROSS RESIDUAL DISEASE AFTER BIOPSY, INITIAL SURGICAL RESECTION, OR CHEMOTHERAPY,
PROGNOSIS
• PATIENTS WITH LOCALIZED RMS HAVE A 5-YEAR SURVIVAL RATE OF >70%,
FOLLOWING A MULTIMODAL APPROACH THAT INCLUDES CHEMOTHERAPY,
RADIOTHERAPY, AND SURGERY; THOSE WITH METASTASIS HAVE A 5-YEAR
OVERALL SURVIVAL RATE OF <20%–30%
TERIMA KASIH