|Year : 2022 | Volume
| Issue : 2 | Page : 172-175
Forearm rhabdomyosarcoma in neurofibromatosis type 1: A unique case
Vikas Kakkar1, Dheeraj Makkar2
1 Department of Surgery, Sri Guru Ram Das Institute of Medical Sciences and Research, Punjab, India
2 Department of Orthopedics, NC Medical College, Panipat, Haryana, India
|Date of Submission||13-May-2022|
|Date of Acceptance||30-Oct-2022|
|Date of Web Publication||30-Dec-2022|
Dr. Dheeraj Makkar
Flat No. 105, Doctors Quarters, NC Medical College, Panipat, Haryana
Source of Support: None, Conflict of Interest: None
Rhabdomyosarcoma (RMS) is the most common soft sarcoma in kids, with alveolar and embryonal variants distinguishable by histopathology and, more significantly, molecular biology. RMS occurs intermittently in a substantial proportion of cases without a predisposing condition. Nevertheless, it is well established that certain hereditary factors enhance the likelihood of developing RMS. Beckwith–Wiedemann syndrome, Gorlin syndrome, Costello syndrome, neurofibromatosis type 1 (NF1), and Li-Fraumeni syndromes are some of them. These syndromes present with RMS during childhood. A 47-year-old female with NF1 discovered a lump in her right forearm 1 year before presentation. When the patient noticed ulceration on the swelling, she sought medical attention. A tumor was detected in the center of the right forearm through magnetic resonance imaging, and it was suspected to be a cystic or myxoid soft-tissue tumor, RMS, or a peripheral neural tumor. We classified the tumor as stage IV due to axillary lymph node involvement and lung metastasis. Histopathology confirmed RMS. The patient then received radiotherapy and chemotherapy, and her tumor went into remission. After confirming NF1 syndrome, we advise patients to adhere to the standard cancer screening protocol. The screening would assist in the earlier diagnosis of tumors, leading to a reduction in complications.
Keywords: Forearm, Gorlin syndrome, histopathology, neurofibromatosis type 1, rhabdomyosarcoma
|How to cite this article:|
Kakkar V, Makkar D. Forearm rhabdomyosarcoma in neurofibromatosis type 1: A unique case. J Orthop Traumatol Rehabil 2022;14:172-5
|How to cite this URL:|
Kakkar V, Makkar D. Forearm rhabdomyosarcoma in neurofibromatosis type 1: A unique case. J Orthop Traumatol Rehabil [serial online] 2022 [cited 2023 Apr 1];14:172-5. Available from: https://www.jotr.in/text.asp?2022/14/2/172/365827
| Introduction|| |
Rhabdomyosarcomas (RMSs), the most frequent type of soft-tissue sarcoma, constitute 4.5% of all pediatric cancers but are rare in adults. Following Wilms' tumor and neuroblastoma, it is the most prevalent extracranial solid tumor in children. RMS belongs to the primitive neuroectodermal tumors group of tumors. These are composed of small blue round cells and include neuroblastoma and lymphoma.
In terms of age at manifestation, there appears to be a bimodal pattern, peaking between 2 and 6 years and then at adolescence. While most occurrences of RMS are sporadic, the condition has been correlated with hereditary diseases such as Li-Fraumeni syndrome More Details, Beckwith–Wiedemann syndrome, Gorlin syndrome, Costello syndrome, Noonan syndrome, and neurofibromatosis type 1 (NF1).,
RMS has two major subcategories: alveolar and embryonic. Alveolar RMS has a distinct alveolar architecture, with tumor cells nestled between collagenous septa. Embryonic type with myoblastic and stellate cells shows an undeveloped stage of development. In addition, two uncommon RMS subtypes consist of sclerosing or spindle cell RMS and pleomorphic RMS.,
We present a unique case of spindle cell RMS in a 47-year-old female who reported to our institute with complaints of bleed and ulceration from the right forearm.
| Case Report|| |
A 47-year-old female presented to our institution with a 6-month history of right forearm swelling. The swelling gradually increased in size and was painful. The patient went to a local hospital and performed a tissue biopsy from the swelling. The pathologist reported an inadequate sample from the biopsy. Fifteen days later, the swelling gradually increased after the surgery with a cut through of sutures due to friable skin being accompanied by ulceration and bleeding [Figure 1]. The patient did not report any recent traumatic event or hurt to her forearm. There was no history of weight loss, loss of appetite, or any related systemic symptoms. The patient had a family history of peripheral nerve tumors in her sister. The past history was remarkable for neurofibroma in the neck and radiation of pain to the forearm, which was relieved with conservative management. The neck neurofibroma was nonprogressive and did not cause any subsequent problems. There was no relevant personal history.
|Figure 1: A swelling and ulceration present on the right forearm. Neurofibromas are also present|
Click here to view
In addition to neurofibromas, a firm, oval, 8 cm × 5 cm bulge was found in the middle of the right forearm. The growth edges were diffuse, and the mass appeared tethered to the underlying muscle. The ulceration measured approximately 5 cm × 4 cm and had friable margins and well edges [Figure 1]. The patient also reported increased soreness and paresthesia in her index and middle fingers commencing 4 days before her hospitalization. Similarly, we examined the forearm's radial and ulnar nerve involvement, but it was normal.
As part of a standard laboratory evaluation, we assessed the complete blood count, electrolytes, kidney function, liver function, and urinalysis. We also performed venous ultrasonography and an X-ray to rule out thrombosis and detect bone involvement. Magnetic resonance imaging (MRI) examination of the right forearm revealed a multilobulated mass measuring 6 cm × 5.8 cm × 10.8 cm in the center of the right forearm [Figure 2]. With a more than 180° contact angle, the lesion compressed the radial artery and the median nerve posteromedially. There were no bone erosions, and the tumor reached the ulceration edges through subcutaneous planes. Ultrasound of the abdomen revealed fatty degenerative signs of Grade 1. Subcutaneous neurofibromas and thyroid nodules in the right lobe were spotted during a neck ultrasound. The right axillary lymph nodes were seen on the chest computed tomography scan, with the most prominent node measuring 3.8 cm × 3.2 cm × 2.9 cm. A calcified hilar lymph node and bilateral lung metastasis were also found; the primary lung metastasis was 4.4 cm × 3.2 cm × 2.8 cm.
|Figure 2: Magnetic resonance imaging of the forearm showing a mass on the volar aspect of the forearm|
Click here to view
We referred the patient for an ophthalmologic examination and MR imaging of the brain and spine to assess any occult malignancy. The test findings were negative for cancers.
We classified RMS as stage IV cancer according to the American Joint Cancer Committee Classification System. We further categorized it as T2b N1M1 (stage IV) due to the involvement of the axillary lymph nodes and lung metastasis. The patient was scheduled for immediate primary resection of the tumor under general anesthesia and tourniquet control, following consultation with the plastic surgery and radiotherapy departments.
Following a meticulous dissection around the radial artery and median nerve through a modified Henry approach, the entire tumor was removed with a 2 cm safety margin [Figure 3]. After removal, the mass appeared gray to yellow and gelatinous in appearance. It measured 17 cm × 10 cm × 6.5 cm. The skin defect was closed with a free flap [Figure 4] from the ipsilateral thigh. The histopathology report revealed tumor cells arranged in a herringbone pattern, with occasionally interspersed strap cells [Figure 5]. The tumor cells were immunopositive for myogenin/MyoD/desmin and negative for S100/SOX10/calponin confirming spindle cell RMS.
|Figure 3: The tumor mass was excised through the modified Henry approach. The radial artery is saved, seen in the superior part of the surgical wound. The palmaris longus tendon is sacrificed|
Click here to view
After the surgery, suture removal was done after 12 days without complications [Figure 6]. The preoperative paresthesia of the patient was relieved, and she had a preserved hand function. She was advised radiation treatment for 25 days, followed by six cycles of chemotherapy. The chemotherapy cycles were scheduled every 3 weeks and consisted of vincristine, actinomycin-D, and cyclophosphamide drugs. After approximately 12 weeks of standard chemotherapy, we evaluated the patients' response to treatment with an MRI [Figure 7]. The patient's repeat MRI did not show any remnant mass. The patient did not complete the chemotherapy or report for follow-up.
| Discussion|| |
Alterations in the neurofibromin gene cause NF1, these are encoded on the long arm of chromosome 17 and affect between 1/3000 and 4000 individuals globally.
Clinical evaluation is the way to diagnose when at least two of the symptoms listed in [Table 1] are present.,
|Table 1: Diagnostic criteria for type 1 neurofibromatosis (National Institutes of Health Consensus Development Conference 1988)|
Click here to view
Bowing of the long bones, particularly the tibia or pseudarthrosis occurs in approximately 2% of persons with NF1. Scoliosis, osteoporosis, and nonossifying fibroma are other orthopedic ailments affecting NF1 patients.
Several tumors are also associated with NF1. The plexiform neurofibroma is the most common tumor and the primary cause of morbidity in NF1 patients. NF1 is also related to various malignancies, including optic gliomas, juvenile myelomonocytic leukemia, pheochromocytomas, brain tumors, gastrointestinal stromal tumors, glomus tumors, and juvenile xanthogranulomas. The least common type of tumor in NF1 is RMS, and it occurs in the extremities in 7% of NF1 patients.
RMSs are mainly the tumors of children, while our patient presented in adulthood. Although the predominant type in adults is pleomorphic, the subtype present in our patient was spindle cell RMS. The spindle cell RMS is predominant in males, unlike in our case.
Different variables, many of which are clearly delineated in the pediatric age group, influence the outcome of RMS. Favorable characteristics include histology subtype, primary anatomical site, age at onset, operative removal, occurrence or absence of metastases, and tumor size. An embryonal subtype of RMS possesses a superior outcome, whereas pleomorphic has a worse prognosis. A better prognosis can be attributed to the tumors located in orbits, the nonparameningeal head and neck, and the genitourinary system, urinary tract, and prostate patients under 10 years of age fare better than adults. Another significant element favoring the prognosis is the absence of metastases at the time of diagnosis, total gross surgical resection, and the size of ≤5 cm. The study by Little et al. reveals that the most prominent favorable prognostic factor is a size of fewer than 5 cm and is statistically significant.
| Conclusion|| |
We present a rare case of RMS of the forearm in an adult with NF1. The goal of surgical intervention should be limb preservation, if conceivable. Consequently, multidisciplinary therapy is needed. Hence, the fundamental guideline “life over limb” must be considered in malignant growth or recurrence circumstances. We recommend adequate excision and restorative techniques such as segmental bone excision and vascular reconstruction, nerve repair, grafting, and free flaps to provide optimal daily functioning.
The following clinical implications can be drawn from our case report. Physicians should persuade patients to follow the recommended screening protocol for tumors after diagnosing NF1 syndrome. For pathological, biological, and cytogenetic studies, a sufficient quantity of tissue should be acquired through an open biopsy. The status and size of lymph nodes are crucial components of pretreatment staging and have prognostic significance.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understands that her name and initials will not be published and due efforts will be made to conceal her identity, but anonymity cannot be guaranteed.
We are grateful to the Pathology Department of the SGRD Institute of Medical Sciences and Research for their outstanding work on our patient. We also want to acknowledge the efforts of Dr. Chaitanya Bedi, the surgery resident at SGRD Institute of Medical Sciences and Research, for patient data procurement.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Agaram NP, LaQuaglia MP, Alaggio R, Zhang L, Fujisawa Y, Ladanyi M, et al.
MYOD1-mutant spindle cell and sclerosing rhabdomyosarcoma: An aggressive subtype irrespective of age. A reappraisal for molecular classification and risk stratification. Mod Pathol 2019;32:27-36.
Dasgupta R, Fuchs J, Rodeberg D. Rhabdomyosarcoma. Semin Pediatr Surg 2016;25:276-83.
Ingley KM, Cohen-Gogo S, Gupta AA. Systemic therapy in pediatric-type soft-tissue sarcoma. Curr Oncol 2020;27:6-16.
Giannikopoulos P, Parham DM. Rhabdomyosarcoma: How advanced molecular methods are shaping the diagnostic and therapeutic paradigm. Pediatr Dev Pathol 2021;24:395-404.1.
El Demellawy D, McGowan-Jordan J, de Nanassy J, Chernetsova E, Nasr A. Update on molecular findings in rhabdomyosarcoma. Pathology 2017;49:238-46.
Philpott C, Tovell H, Frayling IM, Cooper DN, Upadhyaya M. The NF1 somatic mutational landscape in sporadic human cancers. Hum Genomics 2017;11:13.
Ferner RE, Huson SM, Thomas N, Moss C, Willshaw H, Evans DG, et al.
Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet 2007;44:81-8.
Neurofibromatosis: Conference Statement. Arch Neurol. 1988;45:575-8. doi:10.1001/archneur.1988.00520290115023.
Korf BR. Diagnostic outcome in children with multiple café au lait spots. Pediatrics 1992;90:924-7.
Little DJ, Ballo MT, Zagars GK, Pisters PW, Patel SR, El-Naggar AK, et al
. Adult rhabdomyosarcoma: Outcome following multimodality treatment. Cancer 2002;95:377-88.
Linscheid RL, Soule EH, Henderson ED. Pleomorphic rhabdomyosarcomata of the extremities and limb girdles: A clinicopathological study. J Bone Joint Surg Am 1965;47:715-26.
Ruiz-Mesa C, Goldberg JM, Coronado Munoz AJ, Dumont SN, Trent JC. Rhabdomyosarcoma in adults: New perspectives on therapy. Curr Treat Options Oncol 2015;16:27.
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7]