Search

This article discusses a rare case of a specific type of kidney cancer called Wilms tumor with rhabdomyoblastic differentiation. The patient, a 7-year-old boy, had a large renal mass and underwent fine-needle aspiration cytology (FNAC) to diagnose the tumor. The FNAC smears showed a tumor composed of stromal cells with rhabdomyoblastic differentiation. The patient received chemotherapy and surgery, and the tumor was successfully removed. The article also explores different variants of Wilms tumor, including fetal rhabdomyomatous nephroblastoma (FRN) and stromal predominant Wilms tumors. It emphasizes the importance of FNAC and cell-block immunohistochemistry in diagnosing and understanding these rare variants of Wilms tumor. [Extracted from the article]

This paper describes a rare case of malignant triton tumor (MTT), a malignant peripheral nerve sheath tumor with rhabdomyoblastic differentiation, that occurred in a 21-year-old male with no concomitant clinical signs of neurofibromatosis. Although total surgical excision is ideal, the high recurrence rate and distant metastases frequently result in a poor prognosis. A biopsy, in this case, revealed spindle cells organized in short fascicles, with minor anisonucleosis and cross-striations indicating rhabdomyomatous differentiation. Positive immunohistochemistry for epithelial membrane antigen (EMA), Desmin, and S100 markers validated the diagnosis. For further treatment, the patient was referred to a cancer center. Even without clinical signs of neurofibromatosis type 1 (NF-1), the research emphasizes the need to evaluate MTTs as a differential diagnosis for individuals presenting with tumors in the head and neck area. Histopathology and immunohistochemistry are useful diagnostic techniques, and early intervention with surgical excision may enhance the outcome. The paper concludes with a review of the histological criteria needed to establish the diagnosis of MTT and the distinctions between sporadic and NF-1-associated tumors., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Shah et al.)

Abstract Background Soft tissue sarcomas affecting the root of an upper extremity raise the question of limb amputation depending on their location, size, and malignancy. Malignant triton tumors are a rare subtype of neurofibrosarcomas that have been poorly reported in the literature. We report the case of a challenging reconstruction of the upper extremity using a pedicled latissimus dorsal flap. Case presentation A 25-year-old Occidental man was referred to our sarcoma unit for the management of a large, high-grade malignant peripheral nerve sheath tumor with no regional or distant extension and very fast progression. He was treated first by concomitant neoadjuvant radiotherapy and chemotherapy. Carcinologic excision was performed “en bloc” including the skin, the tumor, and the flexor muscles of our patient’s elbow. Coverage of the skin defect and elbow flexion restoration were achieved by using a homolateral pedicled musculocutaneous latissimus dorsi flap. Histological analysis showed an R0 resection. The reconstruction process recovered a complete bending of his elbow. He is still in remission at 26 months follow-up. Conclusions A malignant triton tumor is a rare, aggressive, and high-grade sarcoma. It was successfully treated and this case report describes an effective treatment modality. Reconstructive surgery, allowing large, complete tumor removal, is indispensable after neoadjuvant chemotherapy and radiotherapy.

Background: Soft tissue sarcomas affecting the root of an upper extremity raise the question of limb amputation depending on their location, size, and malignancy. Malignant triton tumors are a rare subtype of neurofibrosarcomas that have been poorly reported in the literature. We report the case of a challenging reconstruction of the upper extremity using a pedicled latissimus dorsal flap.Case Presentation: A 25-year-old Occidental man was referred to our sarcoma unit for the management of a large, high-grade malignant peripheral nerve sheath tumor with no regional or distant extension and very fast progression. He was treated first by concomitant neoadjuvant radiotherapy and chemotherapy. Carcinologic excision was performed "en bloc" including the skin, the tumor, and the flexor muscles of our patient's elbow. Coverage of the skin defect and elbow flexion restoration were achieved by using a homolateral pedicled musculocutaneous latissimus dorsi flap. Histological analysis showed an R0 resection. The reconstruction process recovered a complete bending of his elbow. He is still in remission at 26 months follow-up.Conclusions: A malignant triton tumor is a rare, aggressive, and high-grade sarcoma. It was successfully treated and this case report describes an effective treatment modality. Reconstructive surgery, allowing large, complete tumor removal, is indispensable after neoadjuvant chemotherapy and radiotherapy. [ABSTRACT FROM AUTHOR]

Leiomyosarcoma (LMS) arising in a leiomyoma (LM) is a rare event. Still rare is rhabdomyoblastic differentiation in leiomyosacoma. We present such a case of LMS uterus with rhabdomyoblastic differentiation arising in an LM in a 60-year-old menopausal woman who presented with lower abdominal pain. An ultrasound scan was suggestive of uterine fibroid. Total abdominal hysterectomy was performed for presumed LM. Grossly, fibroid had variegated appearance along with focal areas having whorling pattern and histopathology showed leiomyosarcomatous change in a benign LM with rhabdomyoblastic differentiation. This is a rare complication of LM and precise diagnosis of LMS is essential since it has an aggressive behavior.

Sertoli–Leydig Cell Tumours (SLCT) accounts for less than 0.5% of all ovarian neoplasms. Presence of mesenchymal heterologous elements in a poorly differentiated SLCT is extremely uncommon. It not only causes diagnostic difficulty but also renders an aggressive behaviour to the tumour. We report a rare case of poorly differentiated SLCT with cartilage and rhabdomyoblastic differentiation along with review of literature.

Malignant peripheral nerve sheath tumors (MPNST) constitute a rare variety of soft tissue sarcomas thought to originate from Schwann cells or pluripotent cells of the neural crest. Malignant triton tumor (MTT), a very rare, highly aggressive soft tissue tumor, is a subgroup of MPNST and is comprised of malignant Schwann cells coexisting with malignant rhabdomyoblasts. We herein report the case of a 24-year-old man who presented a subcutaneous mass in his right thigh. The mass was removed surgically in its entirety and radiation therapy was applied locally to prevent tumor regrowth. Nonetheless, the patient died 10 months after surgery from metastases to the lung and brain. He presented neither cafe-au-lait spots nor cutaneous neurofibromas. The histopathology showed a transition from a neurofibroma to an MTT, making this the second report of an MTT arising from a neurofibroma without neurofibromatosis type 1, an autosomal dominant disorder with which 50-70% of tumors reported in previous studies were associated. A histopathological examination using immunostaining with desmin confirmed this diagnosis. MTT has a poorer prognosis than MPNST and should therefore be regarded as a distinct clinical entity.

Rhabdomyosarcoma is a relatively common soft tissue sarcoma that frequently affects children and adolescents and may involve the head and neck. Rhabdomyosarcoma is defined by skeletal muscle differentiation which can be suggested by routine histology and confirmed by immunohistochemistry for the skeletal muscle-specific markers myogenin or myoD1. At the same time, it must be remembered that when it comes to head and neck malignancies, skeletal muscle differentiation is not limited to rhabdomyosarcoma. A lack of awareness of this phenomenon could lead to misdiagnosis and, subsequently, inappropriate therapeutic interventions. This review focuses on malignant neoplasms of the head and neck other than rhabdomyosarcoma that may exhibit rhabdomyoblastic differentiation, with an emphasis on strategies to resolve the diagnostic dilemmas these tumors may present. Axiomatically, no primary central nervous system tumors will be discussed. [ABSTRACT FROM AUTHOR]

Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the intestinal tract. In patients with locally advanced and/or metastatic GIST, the introduction of tyrosine kinase inhibitor, imatinib mesylate, has transformed the management of this previously untreatable neoplasm into a treatable entity. Approximately 80% of advanced metastatic GISTs respond to imatinib treatment. However, the majority of patients suffer disease progression at a median of 2 years due to drug resistance. Generally progressing GISTs retain their typical morphology. Herein, we report an extremely rare case of progressive metastatic GIST with heterologous rhabdomyoblastic differentiation after, imatinib mesylate treatment. We also review the relevant literature.

Sertoli–Leydig Cell Tumours (SLCT) accounts for less than 0.5% of all ovarian neoplasms. Presence of mesenchymal heterologous elements in a poorly differentiated SLCT is extremely uncommon. It not only causes diagnostic difficulty but also renders an aggressive behaviour to the tumour. We report a rare case of poorly differentiated SLCT with cartilage and rhabdomyoblastic differentiation along with review of literature. [ABSTRACT FROM AUTHOR]

Malignant triton tumor (MTT) is a variant of the peripheral nerve sheath tumor. It is very uncommon but shows an aggressive course and limited survival. Half of the cases present symptoms related to neurofibromatosis type 1 disease. There is no standardized treatment, but multimodal approach is the best option. We present the case of a primary MTT located in the kidney, in a 43-year-old woman who received neoadjuvant chemotherapy as first-line treatment followed by surgical resection and adjuvant chemotherapy. [ABSTRACT FROM AUTHOR]

We describe 2 new cases of malignant melanoma with divergent rhabdomyoblastic differentiation occurring in adult patients. The patients were women aged 67 and 51 years with primary cutaneous and uterine cervical melanoma, respectively. Rhabdomyoblastic differentiation in melanoma is very rare in adult patients, and to our knowledge, only 7 such cases have been described in the world literature, of which only 4 have conclusive documentation of the presence of rhabdomyoblastic differentiation. We present the fifth and sixth cases of adult melanomas with conclusive divergent rhabdomyoblastic differentiation, including the first noncutaneous (cervical) case; we also review the literature and highlight the potential for underrecognition of this phenomenon. [ABSTRACT FROM AUTHOR]

INTRODUCTION The objective is to report a rare tumour of the sinonasal tract and conduct a literature review. Malignant triton tumour is a subtype of malignant schwannoma with rhabdomyoblastic differentiation. It is a very rare tumour, with only 15 reported cases involving the sinonasal region. PRESENTATION OF CASE Forty-seven years old female presented with a right-sided epistaxis, progressive right sided nasal obstruction and anosmia and a visible mass in the right nasal cavity. Imaging studies showed a mass extending from the piriform aperture to the nasopharynx in contact with the dura and the orbital content. The mass was biopsied and the result was consistent with malignant triton tumour. The patient refused the surgery at first so chemotherapy with MAID protocol was started. After the fourth course of chemotherapy the treatment was stopped due to patient intolerance and a thrombosis of the jugular vein. Patient then underwent surgery with frontal craniotomy and dural excision, endoscopic control was done at the end to insure a complete removal. The patient received Radiotherapy in the postoperative period (56 Greys). At 5 years of follow up the patient is doing fine with no signs of recurrence and normal ophthalmological findings. DISCUSSION Sixteen cases, including our case, have been reported to date in the literature. The mean age at presentation is 61 years. None of cases were associated with neurofibromatosis type 1. Eight patients were reported to be alive 5 years post-treatment, and 2 patients were reported to have died of the disease. The prognosis for triton tumours in the sinonasal tract is better than that for triton tumours in other locations. CONCLUSION Malignant triton tumour is a rare malignancy of the sinonasal tract. Otolaryngologists should be aware of this disease. The optimal treatment should include radical resection of the tumour. [ABSTRACT FROM AUTHOR]

Malignant melanoma can metastasize widely and vary significantly in its histological appearance; it rarely presents as a deep-seated mass without an obvious primary site elsewhere. Malignant peripheral nerve sheath tumor (MPNST) is a high-grade sarcoma characterized by conventional and epithelioid subtypes. MPNST can demonstrate heterologous differentiation, usually in the form of osteosarcomatous, chondrosarcomatous, or rhabdo-myosarcomatous differentiation. MPNST does not harbor true melanocytic differentiation, although epithelioid MPNST typically is diffusely S-100 protein positive and superficially can resemble malignant melanoma. An unusual intra-abdominal mass was recently encountered with features of both melanoma and conventional or epithelioid MPNST containing a fascicular spindle cell component, an epithelioid component with melanocytic differentiation, as well as a rhabdomyosarcomatous component. The terminology “malignant neuroectodermal tumor with melanocytic and rhabdomyoblastic differentiation” is proposed to describe this neoplasm, reflecting the unusual concomittant lines of differentiation as well as offering a possible rationale for nosologically challenging aspects of this neoplasm.

Abstract: We report an interesting case of testicular germ cell tumor with distinct seminomatous and teratomatous components. A rare development of secondary somatic malignancy in the form of hepatocellular carcinoma was observed. Immunohistochemically, hepatocellular cancer was positive for cytokeratin, hepatocyte paraffin-1 (HepPar-1), α-fetoprotein, glypican-3 (GPC-3), octamer-binding transcription factor 3/4 (Oct3/4), and Ki-67. In addition, adenocarcinoma and rhabdomyoblastic differentiation were also evident. Placental alkaline phosphatase (PLAP), Sal-like 4, and Oct3/4 were positive in seminoma. To the best of our knowledge, we have not found any such report of secondary development of hepatocellular carcinoma in a testicular teratoma. We believe that it is a rare, distinct phenomenon in germ cell tumors and deserves recognition. [Copyright &y& Elsevier]

Abstract: Purpose: The purpose of this study was to assess the impact of rhabdomyoblastic differentiation [malignant triton tumors (MTT)], neurofibromatosis 1 (NF1) status and location on the outcome of malignant peripheral nerve sheath tumors. Methods: In this IRB-approved, HIPAA-compliant retrospective study medical records of 84 patients with pathologically confirmed MPNST from 1999 to 2011 were retrospectively reviewed. Patient and tumor characteristics including size, location, NF1 status, absence or presence of rhabdomyoblastic differentiation (MPNST versus MTT, respectively), recurrence and metastatic patterns and outcomes were evaluated. Results: Of 84 patients, 62 were MPNST and 22 were MTT. MTT occurred in older patients than MPNST (50 years versus 40.7 years, p = 0.04) and were larger (12.3 cm versus 8.1 cm, p = 0.01). While there was no difference between the location, rate of recurrent or metastasis disease, and metastatic pattern between MTT and MPNST groups, MTT had shorter metastasis-free interval (median, 1 month versus 9 months, p = 0.02) and shorter survival (median, 10 months versus 43 months, p < 0.0001). NF1 status, while associated with earlier diagnosis (mean age, 35.1 years versus 46.5 years, p = 0.008), had no impact on rate of MTT or on prognosis. Patients with primary in the torso had shorter survival than those with extremity primary (median, 15 months versus 47 months, p = 0.0004). Multivariate analysis using the Cox proportional hazard regression model yielded age (p = 0.029), size (p = 0.0001), presence of rhabdomyoblastic differentiation (MTT) (p = 0.001), and location in the torso (p = 0.01) as independent predictors of survival. Conclusions: Among patients with malignant peripheral nerve sheath tumors, rhabdomyoblastic differentiation (MTT) and location in the torso are associated with poor prognosis. NF1 status has no impact on the prognosis. [Copyright &y& Elsevier]

Background: Endometrial stromal tumours are uncommon tumours of the uterus. They mainly occur in perimenopausal women. Tumours with typical clinicopathological features do not usually pose diagnostic problems. However, rare clinicopathological features can occur, and clinicians without significant experience may have difficulty diagnosing these tumours and managing these patients., Methods: Herein, we report a case of endometrial stromal sarcoma that occurred in a 25-year-old woman. The pathological features, immunophenotype, treatment and prognosis were discussed., Results: The tumour revealed morphological heterogeneity, and there were similar proliferative-type endometrial stromal cells, an extensive amount of mature adipose tissue, and prominent rhabdomyoblastic and smooth muscle cells. Histopathological and immunohistochemical studies confirmed low-grade endometrial stromal sarcoma with smooth muscle, adipocytic and rhabdomyoblastic differentiation (approximately 60% were differentiated tissues). The final treatment of the tumour was total abdominal hysterectomy with bilateral salpingo-oophorectomy. There was no evidence of recurrence for 109 months postoperatively., Conclusions: We found that low-grade endometrial stromal tumours with extensive adipocytic and prominent rhabdomyoblastic differentiation are misdiagnosed because they are infrequent. They must be differentiated from rhabdomyosarcoma with accurate identification of adipocytes, and long-term follow-up is needed., (© 2022 The Authors. Journal of Clinical Laboratory Analysis published by Wiley Periodicals LLC.)

Malignant schwannoma is an uncommon neoplasm, accounting for only 5-10% of all sarcomas. Metastasis from malignant schwannoma are quite rare, usually occurs to the lung, that is the most common site of metastasis, followed by bone and pleura, metastasis to the brain are extremely rare and only 12 cases have been reported in the literature since 1963. Case report:. we report a 47 year old male which 3 years after a diagnosis of schwannoma malignant of humerus, presented metastasis to lung and right pleura and 6 months later presented metastases to the parenchyma of the brain in the right fronto parietal region. The histological sections showed areas with rhabdomyoblastic differentiation. The immunostaining showed immnunoreactive for desmin and myogenin. The final diagnosis was a malignant schwannoma with rhabdomyoblastic differentiation (malignant «triton» tumor). Discussion: few cases of metastasis of malignant schwannoma to the brain have been reported, which were associated with neurofibromatosis type 1. The malignant schwannoma is a highly aggressive tumor with a high rate of local recurrence and poor prognostic. [ABSTRACT FROM AUTHOR]

Background. Malignant triton tumors are rare neoplasias consisting of a malignant peripheral nerve sheath tumor with additional rhabdomyoblastic differentiation. These tumors are highly aggressive and prognosis is poor. Our aim is to describe the outcome and to identify potential prognostic factors. Methods. From 1993 to 2005, 7 patients with a malignant triton tumor of the head and neck were treated at our institution. A literature search revealed another 46 published cases. All these cases were analyzed for outcome and prognostic factors. Results. Patients with primary tumors involving the nose and paranasal sinuses have better, patients involving the neck a poor prognosis. All other locations show an intermediate course. Complete surgical removal is of crucial importance. Additional radiation or chemotherapy show little effect. Conclusion. Location of the primary tumor is a key factor for prognosis. Complete surgical removal is the only treatment associated with survival.© 2009 Wiley Periodicals, Inc. Head Neck, 2009 [ABSTRACT FROM AUTHOR]

Two cases of malignant melanoma are reported in adults exhibiting rhabdomyoblastic differentiation to alert pathologists to this rare variant of malignant melanoma. One of the cases presented as a metastasis in a submandibular lymph node, and the other was a primary skin melanoma. There are only a few published reports on melanocytic tumors with rhabdomyoblastic differentiation, mainly occurring in giant congenital nevi. Both cases reported here were confirmed by immunohistochemistry. Both cases were also studied by electron microscopy, and one showed distinctive ultrastructural features of striated muscle. [ABSTRACT FROM AUTHOR]

Primary meningeal neoplasias are rare, and their diffuse growth within the subarachnoid space may simulate inflammatory processes or metastatic neoplastic dissemination. We report here the case of a boy with an 18-day history of fever and progressive neurological deterioration. While in the hospital, the patient showed neurological deterioration and did not respond to antituberculosis treatment. His cerebrospinal fluid (CSF) cytology disclosed an elevated white blood cell count accompanied by a mildly elevated protein level and a slightly decreased glucose level. The child died, and pathology revealed that his meningeal process was a sarcoma. The immunophenotype of the neoplastic cells showed expression of a sarcomeric actin marker, characterizing rhabdomyoblastic differentiation of the cells that occupied the subarachnoid space and invaded superficially the encephalon. Rhabdomyoblastic differentiation in leptomeningeal diffuse primary sarcoma (LDPS) is an aspect rarely observed in this malignant meningeal neoplasia, with few reported cases. The present case is the first reported in the Portuguese literature and the fifth reported in the English literature. [Copyright &y& Elsevier]

Malignant peripheral nerve sheath tumor with glandular and rhabdomyoblastic differentiation is a rare neoplasm: only six cases have previously been documented. The clinical evolution and immunohistochemical profile with use of a large battery of immunohistochemical markers of a case occurring in the right lumbar paraspinal region in a 28-year-old man is reported. [ABSTRACT FROM AUTHOR]

Malignant melanoma can metastasize widely and vary significantly in its histological appearance; it rarely presents as a deep-seated mass without an obvious primary site elsewhere. Malignant peripheral nerve sheath tumor (MPNST) is a high-grade sarcoma characterized by conventional and epithelioid subtypes. MPNST can demonstrate heterologous differentiation, usually in the form of osteosarcomatous, chondrosarcomatous, or rhabdomyosarcomatous differentiation. MPNST does not harbor true melanocytic differentiation, although epithelioid MPNST typically is diffusely S-100 protein positive and superficially can resemble malignant melanoma. An unusual intra-abdominal mass was recently encountered with features of both melanoma and conventional or epithelioid MPNST containing a fascicular spindle cell component, an epithelioid component with melanocytic differentiation, as well as a rhabdomyosarcomatous component. The terminology "malignant neuroectodermal tumor with melanocytic and rhabdomyoblastic differentiation" is proposed to describe this neoplasm, reflecting the unusual concomittant lines of differentiation as well as offering a possible rationale for nosologically challenging aspects of this neoplasm. [ABSTRACT FROM AUTHOR]