Przypadek wrodzonego włókniakomięsaka u noworodka

Viktor Konoplitskyi1, Vasyl Pogorilyi1, Oksana Moravska1, Dmytro Dmytriiev2, Tatiana Chuhu1, Oleksandr Fomin1Bohdan Zaletskyi2, Oleksandr Mazulov3

1DEPARTMENT OF PEDIATRIC SURGERY, VINNYTSYA NATIONAL PIROGOV MEMORIAL MEDICAL UNIVERSITY, VINNYTSYA, UKRAINE

2DEPARTMENT OF ANESTHESIOLOGY AND INTENSIVE CARE, VINNYTSYA NATIONAL PIROGOV MEMORIAL MEDICAL UNIVERSITY, VINNYTSYA, UKRAINE

3DEPARTMENT OF PEDIATRIC №1, VINNYTSYA NATIONAL PIROGOV MEMORIAL MEDICAL UNIVERSITY, VINNYTSYA, UKRAINE

ABSTRACT

Infantile fibrosarcoma is a malignant tumor, which is most common in infants, preferentially localized in the lower limbs. An important prognostic factor of the disease is early diagnostics, both clinical and instrumental. The operative treatment of infantile fibrosarcoma is a leading treatment method. The article describes a clinical case of infantile fibrosarcoma in a newborn with fetal development of the disease.

Wiad Lek 2018, 71, 9, 1844-1848

Introduction

Infantile fibrosarcoma is a malignant tumor that occurs in children under five, but mainly in babies and infants. This tumor is characterized by rapid growth and does not cause any pain, discomfort and signs of malignancy for a long time. Tumor node is localized rather in the lower extremities below the knee than on the trunk, neck or head. The growth is tending to invasion, recurrence and multiple metastasis (mainly in bones and lungs) [1].

The leading causes of infantile fibrosarcoma are a genetic failure in the structure of chromosomes (trisomy 11, 8, 17 and 20) and heredity.

The disease starts from occurrence of dense node in the tissue, which tends to rapid growth and gain in pain. The skin starts slow swelling and affected zone gains blue and brown colors, sometimes associated with ulceration. The disease is characterized with the following common symptoms: rapid significant weight loss, anemia, weakness and apathy, fever.

Problems of fibrosarcoma diagnostics relate to the fact that at the beginning of its development, the tumor neither manifest itself nor causes any discomfort. In addition to general examination and palpation, the diagnostics program involves USD with Doppler velocimetry, X-ray examination in perpendicular planes, spiral CT, MRI with contrast enhancement, and tumor biopsy. This diagnostic algorithm allows not only determining the size and depth of lesion in other tissues, but also conducting morphological verification of the tumor.

Microscopically, fibrosarcoma consists of bundles of spindle (spindle-cell sarcoma) or round (round-cell sarcoma) cells, divided by collagen fibers into so-called “spruce-like” pattern, characterized by infiltrative and destructive growth. The tumor stroma may be rich in fibers and contain myxomatous transformation foci. There are well – and poorly differentiated types of fibrosarcoma. A large number of collagen fibers and spindle-like cell elements with regular arrangement of cell-fiber strands characterizes the well-differentiated fibrosarcoma. This type of fibrosarcoma is typical for varying degrees of anaplasia and cell polymorphism. Poorly differentiated fibrosarcoma is typical for predominance of cell elements over the fibrous substance, expressed cell polymorphism, cell core hyperchromatism and a large number of pathologic mitoses. Anaplastic cells contain cluster-like cores which form multinucleated giant cells as a result of merger. The structure of poorly differentiated fibrosarcoma may contain large areas consisting of polygonal cells with massive nuclei of light or polymorphic cores, often affected by necrosis aggravated with large tumor destruction foci.

Differential diagnostics of infantile fibrosarcoma is carried out against mono-phase, synovial sarcoma, malignant schwannoma, and different types of fibromatosis and dermatofibromas.

The life expectancy after sarcoma removal is 5 – 7 years. The main predictor criterion is the stage of tumor, defined by its size and a degree of invasion into other tissues. The poorly differentiated fibrosarcoma is characterized by an increased risk of recurrence and metastasis. Fibrosarcoma in babies is characterized by more favorable course, but recurrences increase the likelihood of aggressive course [2].

The operative treatment of infantile fibrosarcoma is a leading treatment method today, which has several variants: wide excision of tumor in case of surface location; early complete excision of tumor with a wide safe edge; amputation of extremity or its segment. Fibrosarcoma in babies has less aggressive course compared to adults, therefore adjuvant therapy methods are used in the most severe cases. The chemotherapy of newborn babies has significant limitations and contraindications. There are evidences of vincristine and actinomycin D No.3 efficacy [3].

Cases of congenital infantile fibrosarcoma are poorly described in the medical literature; therefore we have devoted this article to this same medical problem.

CLINICAL CASE

Patient P, clinical medical record number 12961, 1 day-old boy, admitted to the neonatal pathology department on 23 October 2015 with a tumor-like formation of soft tissues in the right leg. According to parents, the tumor on the rear surface the lower third of the right leg tended to growing just “in their eyes” (Fig. 1).

The baby was a child born in 2 pregnancy; 2 childbirths had normal course. The child was born at 39-40 weeks of gestation, with umbilical cord entanglement, weight – 3370 g; Apgar score – 10 b at 5’. Breastfed at the time of hospitalization.

Physical examination data on admission: 25 Oct 2015; complete blood count: Hb – 203 g/l; Er – 6 × 1012/l; L – 9,4 × 109/l; P-7, S-64, E-4, M-2, L-23, coagulation – start 3’- end 3’30”, sugar – 3.9 mmol/l; total protein – 60 g/l; total bilirubin – 148 μmol/l: direct -12 μmol/l, indirect – 136 μmol/l; electrolytes: K – 4,83 μmol/l, Na – 143 μmol/l, Cl – 116.7 μmol/l.

Blood group – 0(I)Rh (+), dated 23 Oct 2015.

 Examination data on 10 Nov 2015. Complete blood count: Hb – 152 g/l, Er -4.7 × 1012/ l, L – 4.2 × 109/l; P-3, S-44, E-10, M-2, L-41. Urinalysis: color – straw yellow, transparent – complete, specific weight – 1012, leucocytes – 1-2 in the field of vision, erythrocytes – 0 in the field of vision, epithelium – 0-1 in the field of vision.

Biochemical examination. Bilirubin: Total – 148 μmol/l (direct -12 μmol/l, indirect – 136 μmol/l). Electrolytes: K – 4.8 μmol/l, Na -143 μmol/l, Cl – 116 μmol/l.

Tumor markers: α-fetoprotein – 1130 ng/ml (norm – 0.5-13600 ng/ml); human chorionic gonadotropin – 0.59 mlU/ml.

26 Oct 2015; ECG – right ventricular hypertrophy.

26 Oct 2015; Heart USD – normal

26 Oct 2015; Abdominal organs USD – normal; 5.5 mm cystic formation in the central part of the spleen.

23 October 2015. USD of the lower third of the left leg: the muscle layer thickness along the left leg – 12 mm, the muscle structure – normal, the thickness of the muscular layer in the upper and middle third of the right leg – 21 mm; vascular dilation, diameter of veins and the artery – 1.8 mm, the vein and the artery are tortuous: Vps – 36 (cm/sec), Ved – 11 (cm/sec), disposition index – 0.69. The muscle layer thickness in the lower third of the right leg – 8 mm, heterogeneous, hypoechoic zones up to 7 mm-thick. Bloodstream on the edge of middle and lower thirds is similar to the ones in both sections, increased. Vps in the lower third – 11 (cm/sec), Ved – 7 (cm/sec), disposition index – 0.79. Left vein diameter – 0.8 mm; artery diameter – 0.9 mm; Vps – 21 (cm/sec), Ved – 5.7 (cm/sec), disposition index – 0.73.

23 Oct 2015. Radiography of the right shinbone, Report No.5841: no structural changes in bone tissue of the right leg are visualized. Volumetric soft tissue formation of spherical configuration and homogeneous density with a size of 6.3 and 4.5 cm in vertical and horizontal planes, accordingly, is visualized at the level of the lower third of the tibia and at ankle joint, mainly on the back surface.

11 Oct 20015. MRI of the right lower limb with contrast amplification. Examination report: hyperintensive signal in TYRM mode; 62 mm×46 mm×78 mm growth infiltrated in foot flexor digitorum longus, posterior tibial muscle, toe flexor longus, and gastrocnemius muscle, which rapidly accumulated contrast during intravenous amplification (Fig.2.).

26 Oct 2015. Incisional biopsy of the tumor in the lower third of the right leg. A 3-cm skin incision over the tumor on the back surface of the right leg. A sample of tumor tissue prolapsed in the cut was taken for biopsy from 2 points. Smears were taken for cytology. Haemostasis. Skin stitches, aseptic bandage.

Report on cytological smears of the tumor of 26 Oct 2015: blood elements, fibrous tissue polymorphic cells – varying degrees of maturity.

Immunohistochemical study No. 2232/15 dated 10 Nov 2015 (tab. I). Differential diagnostics between poorly differentiated neuroectodermal tumor and infantile fibrosarcoma. Given the data of morphological and immunohistochemical studies of biopsy material, the resulted immunophenotype is typical for infantile fibrosarcoma (ICD-0 code 8814/3) with proliferative activity of Ki-67 at the level of 38.6%.

13 Nov 2015 –Trepanation biopsy of iliac crests. Opinion: cell-like morrow punctate; normoblast type of blood formation.

The baby diagnosed: infantile fibrosarcoma of soft tissues along the back surface of the lower third of the right leg; 2 clinical group.

27 Nov 2015 – surgery: exarticulation of the right leg.

Opinion: The differential diagnostics was performed between poorly differentiated neuroectodermal PNET tumor and infantile fibrosarcoma.

Given the data of morphological and immunohistochemical studies of biopsy material, the resulted immunophenotype is typical for primitive neuroectodermal tumor – PNET (ICD-O code 9364/3).

The postoperative diagnosis. Principal: infantile fibrosarcoma of soft tissues along the back surface of the lower third of the right leg; 2 clinical group; the post-biopsy (26 Oct 2015) and post-exarticulation of the right leg (27 Nov 2015) status (tab. II).

Complications: postoperative inflammation of residual limb of the right leg.

Collateral: delayed gender-kinetic development with underlying orthopedic pathology.

After healing the residual limb, the baby was discharged from the hospital.

Individual patient rehabilitation plan:

– Medical withdrawal from vaccination;

– Right leg residual limb prosthesis;

– Physical exercise, rehabilitation under control of rehabilitation specialist;

– Medical examination by children’s oncologist and orthopedist once in 3 months;

– Spiral CT (abdominal and chest cavity) + MRI of leg soft tissues – once in 6 months.

References

1. Hashemi A., Tefagh S., Seifadini A, Moghimi M. Infantile Fibrosarcoma in a Child: a Case Report. – Iran. J. Ped. Hematol. Oncol. 2013;3(3):135 –137.

2. Akyüz C., Sari N., Varge I., Gedikoglu G., Haliloglu M. A newborn with infantile fibrosarcoma of foot: treatment with chemotherapy and extremity-sparing surgery. – Journal of Perinatology. 2010;30:63 – 65.

3. Loh M. L., Ahn P., Perez-Atayde A.R. Treatment of infantile fibrosarcoma with chemotherapy and surgery: results from the Dana-Farber Cancer Institute and Children’s Hospital, Boston. – J. Pediatr. Hematol. Oncol. 2002;24(9):722 – 726.

Authors’ contributions:

According to the order of the Authorship.

Conflict of interest:

The Authors declare no conflict of interest.

CORRESPONDING AUTHOR

Bohdan Zaletskyi

National Pirogov Memorial Medical University

56, Pirogov St., 21018, Vinnytsya, Ukraine

e-mail: zaletskyi.bohdan@gmail.com

Received: 10.07.2018

Accepted: 23.11.2018

Fig. 1. Patient P, 1-day old. General view of the tumor: А – lateral plane; B – posteroanterior plane.

Fig. 2. Patient P., MRI of right leg with contrast amplification.

Table I. Patient P immunohistochemica study No. 2232/15

Marker

Reaction evaluation

Monoclonal Mouse Anti-Vimentin, Clone Vin 3B4 (Dako M 7020)

«+»

Monoclonal Mouse Anti-Human Cytokeratin Clone AE1/AE3 (Dako M3515)

«-»

Monoclonal Mouse Anti-Human CD31, Endothelial Cell Clone JC70A (Dako IS610)

«+» in the vascular wall

Monoclonal Mouse Anti-Human CD34 Class II Clone QBEnd 10 (Dako IS632)

«+» in the vascular wall

Rabbit Monoclonal Antibody to Fli-1 (DBS RMPD025)

«+» in the vascular wall

Policlonal Rabbit Anti-Human Von Willebrand Factor (Dako IS527)

«+» in the vascular wall

Monoclonal Mouse Anti-Human CD45, Leukocyte Common Antigen Clones 2B11+PD7/26 (Dako M0701)

«+» in inflammatory infiltrate

Monoclonal Mouse Anti-Human CD68 Clone PG-M1 (Dako IS613)

«+» in inflammatory infiltrate

Monoclonal Mouse Anti-Human CD56 Clone 123C3 (Dako IR628)

«+»

Monoclonal Mouse Anti-Human CD99, MIC2 Gene Product Ewing’s Sarcoma Marker Clone 12E7 (Dako IS057)

«+»

Monoclonal Mouse Anti-Human Neuron Specific Enolase Clone BBS/NC/VI- H14 (Dako Z0311)

«-»

Policlonal Rabbit Anti-S100 (Dako Z0311)

«-»

Monoclonal Mouse Anti-Myogenin Clone F5D (Dako IS067)

«-»

Monoclonal Mouse Anti-Human Smooth Muscle Actin Clone 1A4 (Dako IS611)

«+» in the vascular wall

Monoclonal Mouse Anti-Human Ki-67Antigen Clone MIB-1 (Dako IR626)

«+» 38.6%

Monoclonal Mouse Anti-Human p53 Protein Clone DO-7 (Dako M7001)

«+» 62.1%

Table II. Patient P immunohistochemica study No. 2562/15 after surgery

Marker

Reaction evaluation

Monoclonal Mouse Anti-Human CD99, MIC2 Gene Product Ewing’s Sarcoma Marker Clone 12E7 (Dako IS057)

«+»

Rabbit Monoclonal Antibody to Fli-1 (DBS RMPD025)

«+»

Monoclonal Mouse Anti-Human CD34 Class II Clone QBEnd 10 (Dako IS632)

«+» in the vascular wall

Monoclonal Mouse Anti-Human CD45, Leukocyte Common Antigen Clones 2B11+PD7/26 (Dako M0701)

«+» in inflammatory infiltrate

Monoclonal Mouse Anti-Synaptophysin, Clone SY38 (Dako IR 776)

«-»

Monoclonal Mouse Anti-Human CD56 Clone 123C3 (Dako IR628)

«-»

Monoclonal Mouse Anti-Human Neuron Specific Enolase Clone BBS/NC/VI- H14 (Dako IS612)

«-»

Policlonal Rabbit Anti-S100 (Dako Z0311)

«-»

Monoclonal Mouse Anti-Myogenin Clone F5D (Dako IS067)

«-»

Monoclonal Mouse Anti-Human Muscle Actin Clone HHF35 (Dako IS700)

«+» in the vascular wall

Monoclonal Mouse Anti-Human Ki-67 Antigen Clone DO-7 (Dako IR626)

«+» 43.8%

Monoclonal Mouse Anti-Human p53 Protein Clone DO-7 (Dako M7001)

«+» 67.2%