Congenital Malignant Tumors of the Extremities: A Report of Two Cases
David J. Drez, Jr., M.D. William G. Akins, M.D. Perry White, M.D. Richard E. King, M.D.
The presence of a benign tumor at birth is not an uncommon occurrence. The presence of a malignant lesion at birth however is unusual. The most frequently encountered congenital malignant lesion of the extremities is usually a fibrosarcoma involving the soft tissues. One located primarily within the bone is extremely rare.
Two congenital malignant lesions of the extremities are reported; one involving soft tissue and the other involving bone.
CASE NO. 1-C. R. an otherwise healthy female child was bom on November 8, 1954, to normal parents following an uncomplicated full-term pregnancy and delivery.
A large, firm reddish tumor mass was noted on the left wrist at the time of birth. Roentgenograms were obtained (Fig. 1 ) and a biopsy was performed. The initial pathological interpretation was that of osteogenic sarcoma. Other pathologists were consulted and the final diagnosis on the biopsy specimen was malignant mesenchymoma.
Amputation through the middle third of the humerus was performed on December 31, 1954, (Fig. 2 ) after a frozen section of axillary nodes showed no tumor. The pathology reported on the specimen (Fig. 3 and Fig. 4 ) confirmed the diagnosis of mesenchymoma.
A revision of the stump with excision of an adventitious bursa was done on June 17, 1957.
The patient was fitted with a prosthesis and has been followed in the Georgia Crippled Children's Amputee Clinic in Atlanta. There has been no evidence of recurrence.
CASE NO. 2-K. W. was born on April 30, 1969, to normal parents following an uncomplicated pregnancy during which time the mother experienced no trauma and took no medications. The mother's two prior pregnancies had resulted in six and two month spontaneous abortions, the causes of which were not determined. At nine months, the mother went into spontaneous labor and was aided by intravenous Pitocin. Labor lasted nine hours and resulted in a vertex presentation for which forceps were required for delivery. The immediate neonatal condition of the child appeared normal. The ward nurses in the nursery noted a swelling present in the left thigh which was tender and caused the child to be irritable.
The child was then referred to Scottish Rite Hospital. Physical examination revealed nothing remarkable except for a hard, tender mass in the middle third of the left femur which appeared to involve the femur circumferentially. No pulses or bruits were found in the tumor mass. X-rays revealed a large lytic lesion (Fig. 5 ) involving the middle third of the left femur with cortical expansion and erosion.
Open biopsy was performed on May 10, 1969. The tumor was found to be delineated by a periosteal cover. It was grey in color and of fatty texture. Areas of hemorrhage were found throughout the mass although the tumor itself was not exceptionally vascular.
Complete excision of the tumor was accomplished (Fig. 6 ), A pin was placed in the tibia for skeletal traction to maintain femoral length (Fig. 7 ). Gross examination of the specimen revealed "100 grams of irregular, rather firm, gritty grey tumor with some convolutions. No areas of ossification or calcification were noted." Microscopic examination revealed "a fairly uniform appearance of cells with oval vesiculated nuclei and short granular cytoplasmic processes." Under the high power field there was "evidence of active proliferation of nuclei and a few mitoses. No bone formation was seen."
A diagnosis on the tumor was sought from three pathologists. W. F. Enneking, M.D., of the University of Florida thought that the mass might represent a hemangiopericytoma which he considered malignant and advised ablation; L. Johnson, M.D., of the Armed Forces Institute of Pathology felt that it represented a fibrosarcoma and that amputation was necessary; and D. Dahlin, M.D.. of the Mayo Clinic thought that it represented a fibrosarcoma and advised amputation. Hip disarticulation was advised but the parents refused.
The patient was seen in Clinic at one-week intervals during which time the left thigh continued to increase in size (Fig. 8 , Fig. 9 A/B ). A needle biopsy was performed on July 9, 1969 and recurrence of the tumor was confirmed. In view of the increasing size of the thigh the parents consented to a hip disarticulation which was done on August 5. 1969 (Fig. 10 and Fig. 11 ). The description of the gross specimen (Fig. 12 ) follows: "The specimen received consisted of a freshly resected left leg showing disarticulation at the femoral head. External examination shows a markedly enlarged thigh with a diameter of approximately 12 cm. Large venous channels are seen to shine through the dusky-appearing tight skin. Removal of the skin shows a large bosselated tumor replacing the entire thigh musculature. The muscles are thinned out antero-laterally, posteriorly and medially as they course over the tumor. The tumor itself is somewhat compressible in consistency, shows a light tan color and an obviously fleshy to cellular consistency. Invasion into muscle bundles by portions of the tumor, particularly anteriorly, are noted. Proximally and surrounding the femur the large muscle bundles are seen. The tumor appears to have been completely excised as the bosselated nodules fall short of the margin of resection."
A longitudinal section of the entire tumor mass reveals that the femur is completely absent in the central portion and only spicules of bone course down the center of the tumor. The articular surfaces of the femur and of the knee joint are present, the only bony fragments recognizable. Each of these fragments is surrounded on three sides by tumor while the articular surface is free. One area of cystic necrosis with greenish fluid approximately 3 cm in diameter is noted posteriorly. Microscopic examination (Fig. 13 A and Fig. 13 B ) showed "that the tumor is composed of rather densely packed uniform cells that have oval vesiculated nuclei and short granular cytoplasmic processes which tend to end in small fibrillary processes. Vascularity is minimal. No bone formation is present and collagen formation (as determined by Trichrome Stain) is limited to perivascular areas and occasional small septae. Occasional mitoses are noted."
Since amputation the child has been followed at the Scottish Rite Hospital for Crippled Children in Decatur, Georgia, and no recurrence has been detected.
Any tumor present at birth is termed congenital, a term sometimes incorrectly applied to tumors discovered within the first months or years of life, if their cellular structure indicated origin from fetal cell types. The term embryonal has also been used incorrectly but should be reserved for those tumors derived from and composed of immature tissues which have never attained adulthood.
Congenital tumors of a benign nature are much more common than the malignant type. A list of such tumors involving the soft tissues of the extremities would include papillomas, teratomas, mixed tumors and vascular-derived tumors, Clinically, some of the tumors border on malignancy. Some, such as mesenchymoma may be benign, or may be malignant and spread. Hemangiopericytomas have exhibited malignancy in some cases. Mixed tumors have recurred numerous times following excision. Benign congenital tumors located within the bony substance would include the same tumors as those listed above.
Malignancies of a congenital nature in the extremities again predominately involve the soft tissues. The most common of these tumors are the fibrosarcomas. Lymphosarcomas, rhabdomyosarcomas, mesenchymomas, neurofibrosarcomas, hygromas, angiosarcomas, neurolemmomas and liposarcomas have also been reported.
Congenital malignancies within bone include spindle-cell sarcomas, osteogenic sarcomas, synoviomas and fibrosarcomas.
Treatment and prognosis of congenital malignancies have necessarily been variable. Fahey6 in reviewing Wells' report25 points out that of 17 extremity sarcomas with 13 follow-ups, there were 4 known deaths. Pack17,18 reported a 43 per cent overall survival for soft tissue sarcomas in children, with a 50 per cent survival in fibrosarcoma cases.
Congenital tumors and, indeed, sarcomatous tumors in childhood cannot be prognosticated by microscopic findings. Many authors have pointed out that tumors which under the microscope appear to be bizarrely formed and aggressive in appearance are slow to metastasize. Two cases of congenital spindle-cell sarcomas, have been reported by Wells.25 One of these, in which the humerus was involved, survived after amputation. The other, with the femur affected, survived after local excision. Reports of fibrosarcoma at birth, treated initially by local excision, can be found. Some of these were unsuccessful and amputation became necessary. Local, extensive excision has been condemned by many authors, who have pointed out that the incidence of local recurrence, followed by-eventual metastasis, is 60 to 70 per cent in tumor cases. Some of these authors blame infiltrative sarcomatous strands for recurrences locally. Others feel that growth of de nova tumor in adjacent remaining tissue is stimulated by local excision. Irradiation, when used in congenital sarcoma of the extremities, has been unsuccessful in most cases.
In Pack's review,17,18 lymph node dissection is recommended, in addition to amputation, even in tumors such as fibrosarcoma and liposarcoma. Andersen,2 too, has recommended lymph node dissection for rhabdomyosarcoma. It is of interest to note that in none of the instances in which lymph node examinations were reported had tumor invaded the nodes.
Stout23 defined a mesenchymoma as "a neoplasm composed of an admixture of two or more non-epithelial mesenchymal derivatives that ordinarily are not found together in a simple tumor." Microscopic sections of the first case presented in this report (C. R.) were reviewed by Stout and the diagnosis confirmed. Kaufman and Stout11 have reviewed their experience with mesenchymomas, both benign and malignant. None involved bone.
A congenital sarcoma located primarily within bone is of considerable interest since only nine other such tumors have been previously reported. Of these nine, only one other case report of a congenital fibrosarcoma of bone was found.
Conclusions and Summary
Congenital sarcoma of the extremities is rare. Most cases exhibit soft tissue sarcoma, of which fibrosarcoma is the most common.
Congenital sarcoma presents as two types clinically; that arising in soft tissue, with or without adherence to periosteum; and, more rarely, that arising within bone spaces.
Neither microscopically normal appearance nor atypism will predict the clinical course of congenital tumors, which are typically slow to spread but which tend to recur locally.
Two cases of malignant congenital tumors of the extremities are reported. One case was a mesenchymoma of the upper extremity and the other a fibrosarcoma of the femur.
A proper plan of therapy cannot be determined from any one series because of small numbers, but an overall review indicates that non-radical amputation, performed early, is the treatment of choice. Lymph node dissection and radiation do not seem to improve results.
A brief discussion of congenital tumors of the extremities is given.
We express our indebtedness to R. Randolph, M.D. of Athens, Georgia for permission to use case one and to John Otis, M.D., Department of Pathology, Georgia Baptist Hospital for his interpretation of the pathological sections from case two.
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David J. Drez, Jr., M.D., William G. Akins, M.D., Perry White, M.D. and Richard E. King, M.D. are associated with the Juvenile Amputee Clinics of the Slate of Georgia, Atlanta, and the Scottish Rite Hospital for Crippled Children, Decatur, Georgia