Case Of Amelanotic Melanoma Research Articles

Amelanotic malignant melanoma of the esophagus: Report of two cases with immunohistochemical and molecular genetic study of KIT and PDGFRA

The author reports herein two cases of amelanotic malignant melanoma of the esophagus. Case 1 is an 87-year-old woman who was admitted to our hospital because of nausea and vomiting. Endoscopic examination revealed an ulcerated tumor of the distal esophagus, and a biopsy was taken. The biopsy showed malignant polygonal and spindle cells. No melanin pigment was recognized. Immunohistochemically, the tumor cells were positive for melanosome (HMB45), S100 protein, KIT and Platelet derived growth factor receptor-alpha (PDGFRA). The patient was treated by chemotherapy and radiation, but died of systemic metastasis 12 mo after the presentation. Case 2 is a 56-year-old man presenting with dysphagia. Endoscopic examination revealed a polypoid tumor in the middle esophagus, and a biopsy was obtained. The biopsy showed malignant spindle cells without melanin pigment. Immunohistochemically, the tumor cells were positively labeled for melanosome, S100 protein, KIT and PDGFRA. The patient refused operation, and was treated by palliative chemotherapy and radiation. He died of metastasis 7 mo after the admission. In both cases, molecular genetic analyses of KIT gene (exons 9, 11, 13 and 17) and PDGFRA gene (exons 12 and 18) were performed by the PCR direct sequencing method, which showed no mutations of KIT and PDGFRA genes. This is the first report of esophageal malignant melanoma with an examination of the expression of KIT and PDGFRA and the mutational status of KIT and PDGFRA genes.

Das primäre amelanotische Melanom des Rektums - Ein Fallbericht

The amelanotic melanoma of the rectal mucosa is very rare with an unfavourable prognosis. The surgical approach is still discussed controversially. Therefore transrectal ultrasound is of major importance in the preoperative staging and postoperative follow-up especially in diagnosis of local recurrence by using the ultrasound-guided, transrectal aspiration. In literature 5 cases of amelanotic malignant melanoma were reported. The overall survival time is 10 months after diagnosis. All patients were female. We report about a 55-year-old female patient with an amelanotic melanoma of rectal mucosa. 7 months after a wide local excision of the tumour and interferon therapy in case of the absence of pararectal, inguinal metastases and other metastases the patient developed pararectal metastasis. An abdominoperineal resection and resection of inguinal lymph nodes was performed. Two months later paraaortal lymph nodes were detected. We started chemotherapy with Dacarbazin and with regard of the tumour progress the chemotherapy was changed to Vindesin 25 months after first operation supported by a radiotherapy with 40 Gray. The patient died 36 months after diagnosis. The prognosis of primary malignant anorectal melanoma is poor, irrespective of surgical treatment. Wide local resection is the first choice for primary anorectal melanoma. Abdominoperineal resection should be reserved for cases were complete tumour resection is impossible. Chemotherapy, radiotherapy and immunotherapy should be considered in the treatment of anorectal melanoma to influence the overall survival.

Amelanotic malignant melanoma with multiple secondaries

A 37-year-old female presented with a fungating cauliflower-like growth over the right inguinal region with fracture of the right distal femur. Clinical examination revealed an asthenic individual and showed a large fungating protuberant mass over right inguinal region and right knee. Investigations revealed pancytopenia, massive splenomegaly with right iliac lymphadenopathy on ultrasonography of abdomen and a soft tissue mass over upper end of femur and fracture of distal femur on radiological examination. CT scan showed multiple deposits in the lungs with splenomegaly and lymphadenopathy. Fine needle aspiration cytology showed poorly cohesive cellular aspirate with spindle and round cell population with no pigment. Biopsy showed replacement of the dermis by coalescent nests of malignant melanocytes. S-100 antigen was found to be positive. The patient was diagnosed as a case of amelanotic malignant melanoma in Stage III disease and treated with general measures, stabilization of the fracture site followed by oncological management.

Maxillary amelanotic melanoma: A case report

Oral melanomas are extremely rare, representing less than 2% of all reported melanomas. They are known to have a high potential for malignancy, invasiveness, and metastasis.1,2 Although melanoma in the oral cavity sometimes tends to be neglected more than similar lesions on the skin and other locations, pigmented melanoma is usually easy to diagnose clinically because of its red to black or brown color and its irregular outline.1 However, amelanotic melanoma (AM), with lack of pigmentation, often defies correct clinical diagnosis initially before confirmation by biopsy.3 We present a case of AM of the left maxilla.

A case of amelanotic malignant melanoma in the hard palatal mucosa successfully treated with intra-tumoral injection of interferon

A case of amelanotic malignant melanoma in the hard palatal mucosa successfully treated with intra-tumoral injection of interferon

Expression of fibrogenic cytokines in desmoplastic malignant melanoma.

Desmoplastic malignant melanoma (DMM) consists of amelanotic spindle-shaped melanoma cells and is accompanied by desmoplasia with fibrous stromata. It has a strong tendency for local infiltrative growth and recurrence and a propensity for neurotropism. It is not yet known which cytokine is responsible for the desmoplasia in DMM. In the present study, we investigated the roles of several fibrogenic cytokines and cytokine receptors in DMM: basic fibroblast growth factor (bFGF), connective tissue growth factor (CTGF), transforming growth factor-beta, platelet-derived growth factor (PDGF) and PDGF receptors. Immunostaining and in situ hybridization were conducted in four cases of DMM and four cases of amelanotic malignant melanoma (AMM) as negative controls for desmoplasia. PDGF-beta receptor, bFGF and CTGF were intensely expressed in the DMM specimens in comparison with the AMM specimens. The reaction of PDGF-B ligand and CTGF to PDGF-beta receptor, in addition to the expression of bFGF, may contribute to the desmoplasia in DMM.

上顎歯肉無色素性悪性黒色腫の１例

A rare case of amelanotic malignant melanoma of the maxillary gingiva is reported. A 52-year-old man was referred to our hospital because of swelling of the maxillary gingiva. A clinical examination revealed a 14×10 mm amelanotic nodule of the 5 6 region with swelling of the cervical lymph nodes. The histologic diagnosis of a biopsy specimen was spindle cell carcinoma or suspicion of sarcoma. The patient underwent partial maxillectomy and radical neck dissection. Histologic examination of the resected specimen revealed spindle and polygonal tumor cells with no apparent melanin. There was metastasis to three cervical nodes. These tumor cells showed a positive reaction with anti-S100 protein and anti-HMB45 monoclonal antibodies, and a final diagnosis of amelanotic malignant melanoma was made. The patient is free of tumor as of 13 months after the operation.

口蓋に生じた無色素性悪性黒色腫

A case of amelanotic malignant melanoma occurring on the palatal gingiva side of the upper right molar, in a 43-year-old male is presented.The patient was first seen on September 14, 1995, with the chief complaint of rapid growth and alteration in the color tone of the tumor to ash albedo or redishness.Initially, we suspected cancer or sarcoma on the basis of oral observations of the ulcerous, nodular mass.Examination of a biopsy specimen showed the tumor to be composed of a solid proliferation of round and spindle shaped cells characterized by atypia, mitosis and many nuclei. Many tumor cells showed positive immunoreactivity for 5-100 protein, vimentin and HMB-45 mono clonal antibody.Recognition of premelanosome with electron microscopic obsarvation confirmed the crigiral diagnosis.Partial resection of the maxilla was performed under general anesthesia on October 3, 1995. The patient was observed periodically and no evidence of recurrent or metastatic lesion was found one year after the operation.

鼻腔原発悪性黒色腫の３例

Malignant melanoma arising in the nasal cavity is a rare condition with a poor prognosis. Three cases, all females, aged 62, 73, and 94, were treated in our department from 1992 to 1995.One of these was a case of amelanotic melanoma that could not be positively diagnosed as malignant melanoma before immunohistochemical staining for S-100 protein, and Fontana-Masson's staining, had been done.In three cases radical surgery was peformed with pre- or postoperative chemotherapy and immunotherapy (cryosurgery and/or interferon). Two of the patients experienced recurrence, and salvage therapy was subsequently performed.All three are currently alive. The patient survival period ranged from 12 to 46 months after the initial therapy. The present protocol may be a useful approach to obtaining local control, however, the number of patients studied was too small, and the period after initial treatment too short, for conclusive statements on this matter.

無色素性悪性黒色腫 無色素性悪性黒色腫（ａｍｅｌａｎｏｔｉｃ ｍｅｌａｎｏｍａ）の１例

We report a case of amelanotic malignant melanoma with complete loss of pigment on the left foot in 64-year-old male. The histopathology of the primary lesion after total resection showd that tumor thickness was 10mm and the junctional activity of the tumor cells on the basal layer and nests of tumor cells, but no melanin granules existed. By immunohistchemistry, tumor cells were positive for S-100 staining and partly positive for HMB45 staining. Melanosome and premelanosome were not observed by electron microscopic examination. Radical resection for left inguinal lymph nodes was carried out and tumor metastasis was confirmed histlogically.

Malignant Melanoma of the Nasal Cavity

We report a case of amelanotic melanoma arising in the nasal cavity and paranasal sinuses, that could not be positively diagnosed as malignant melanoma before the patient's death in spite of repeated biopsies both from primary and metastatic lesions, including ultrastructural examination and immunohistochemical staining for S-100 protein with usual polyclonal antibody. The patient died of rapid wide-spread dissemination of the tumor. In autopsy specimens, melanin pigment was detected, for the first time, by the Fontana's silver stain. The posthumous diagnosis of malignant melanoma was immunohistochemically confirmed for the specific antibodies, anti alpha-subunit of S-100 protein antibody and SK-46 (original antibody for melanoma made at the Department of Pathology, University of Gunma School of Medicine) from specimens obtained while alive. The application of a specific antibody for S-100 protein is recommended as useful for the diagnosis of malignant melanoma even when routine immunohistochemical procedures fail to demonstrate S-100 protein.

Amelanotic acral melanoma masquerading as fibrous histiocytic tumours. Three case reports.

We report 3 cases of amelanotic melanoma developing on the finger, whose histology disclosed dermal invasion of histiocyte-like tumour cells. One of the 3 cases was subungual melanoma and the other 2 were on the volar surface of the finger tip. Because of the characteristic dense infiltration of large histiocyte-like tumour cells, including many multinucleated giant cells, we initially considered histiocytic tumours. However, there were some histiocyte-like cells that displayed inclusion-like intranuclear invagination of cytoplasm, and almost all tumour cells, including the giant cells, were positive for S-100 protein. In addition, ultrastructural demonstration of premelanosomes within the cytoplasm of the tumour cells established the diagnosis of amelanotic melanoma. These features were distinct histologically from other variants of vertical growth phase amelanotic malignant melanoma, including desmoplastic or neurotropic melanoma. Because we encountered cases 2 and 3 within just a year after the first case, we think that the misdiagnosis of amelanotic "histiocytic" melanoma can be avoided through enhanced clinical awareness and subsequent appropriate histopathologic studies.

REPORT OF A CASE OF MALIGNANT MELANOMA OF THE ANORECTUM, AND REVIEW OF 154 CASES IN JAPAN

We report a case of amelanotic malignant melanoma of the anorectum with a review of 154 cases of malignant melanoma of the anorectum, especially 11 of amelanotic form including this case, seen in the Japanese literature. A 33-year-old woman complaining of proctorrhagia was diagnosed as the disease by excisional biopsy and histological examination of the biopsy specimen, which were performed under a probable diagnosis of rectal polyp. Low anterior resection was carried out. The patient is closely followed on ambulant basis, and no recurrence has been observed for 3 years and one month after operation. Amelanotic form is slightly common in younger patients compared to melanotic form. The male-to-female ratio was 1 to 10. More than half lesions arose in the rectum. Prognosis of malignant melanoma was poor in cases having distant and/or lymphnode metastasis. No significant difference was found by whether biopsy was performed or by operative procedures.

Amelanotic Malignant Melanoma of the Esophagus: Case Report and Review of the Literature

A case of amelanotic malignant melanoma of the esophagus in a 76-year-old woman is reported. A whitish polypoid tumor, measuring 3 x 2 x 2.7 cm, surrounded by black pigmented mucosa, was detected in the middle intrathoracic esophagus. The tumor showed a lobulated surface lined by squamous cell layer, and had epithelioid and polyhedral cells forming alveolar clusters. Melanin pigments or stainability for the dihydroxyphenylalanine (DOPA) reaction were only observed in a few tumor cells. Junctional changes and mucosal melanosis, however, were found freely in the mucosa around the tumor. Many tumor cells showed a strongly positive immunohistochemical reaction for neuron specific enolase (NSE) and S100 protein. The patient died of widespread metastases six months after surgery. Further, a review of 106 reported cases of primary esophageal malignant melanoma, including 29 autopsies, was made; the melanomas were found to include 10 of amelanotic type, eight of which had been misdiagnosed at biopsy. Junctional changes could be found in the mucosa over or around the tumor, in four cases, and mucosal melanosis in one. Lymph node metastasis was the most frequently observed development at autopsy regardless of whether the tumor was amelanotic or melanotic. For correct diagnoses of melanomas of the amelanotic type, peripheral mucosal findings, such as junctional changes or melanosis, should be helpful; and, in order to obtain a good prognosis, a careful resection of the regional lymph nodes could prove valuable.

Ultrastructural diagnosis of amelanotic malignant melanoma: aberrant melanosomes, myelin figures or lysosomes?

INTRODUCTION The diagnosis of either primary or metastatic variants of amelanotic malignant melanoma remains a challenge to pathologists because of the varied histologic appearance of these intriguing neoplasms. The neoplastic melanocytes comprising such tumors may have an epithelioid, spindle-shaped, vacuolated, or clear cell appearance. In many cases, the diagnosis of amelanotic malignant melanoma can only be positively confirmed by transmission electron microscopic (TEM) demonstration of specific types of unpigmented melanosomal organelles variously termed premelanosomes, unpigmented melanosomes, or aberrant melanosomes. The primary purpose of this report is to describe and illustrate the various types of unpigmented neural crest-type melanosomal structures found in the neoplastic melanocytes comprising unequivocal cases of amelanotic malignant melanoma. Differentiation of these true melanosomal structures from questionable aberrant melanosomes and nonmelanosomal organelles or inclusions such as lysosomes and myelin figures will be discussed. The contribution of histochemistry and immunohistochemistry to the diagnosis of amelanotic malignant melanoma as well as a brief description of some unusual histologic variants of malignant melanoma will also be covered.

Amelanotic Melanoma of the nose

A rare case of Amelanotic Melanoma of the nose is presented with a brief review of literature and discussion.

上がく歯肉に発生した無色素性悪性黒色しゅの１症例

A case of amelanotic malignant melanoma occurring in the upper alveolus of a 58-year-old female is presented. The patients was first seen on September 22, 1983, with the chief complaint of the hemorrhagic lesion in the palatal side of the upper right molar. On oral examination, an ulcerous and nodular mass was found in the palatal and buccal sides of the molar. Initially, the tumor was diagnosed as anaplastic cancer from histopathologic findings of the biopsy material taken from the gingiva.Thus, radiation therapy with a total of 3400 rad of 60Co was carried out, resulting in no tumor regression. The 67Ga scintigraphy demonstrated hot uptake of radioisotope in the primary lesion and right side of neck. Partial resection of the maxilla and radical neck dissection were performed under general anesthesia on November 11, 1983. The operation materials revealed the amelanotic malignant melanoma of the primary lesion and its lymph metastasis with a few melanin pigments in the tumor cells. Moreover, the diagnosis was confirmed by ultrastructural findings of the primary tumor.Therefore, the patient was received the following combination chemotherapy as adjuvant therapy: The first regimen included 1 mg of Vincristine, 100 mg of ACNU and a total of 25 mg of Pepleomycin. On the secondary regimen, we exchanged Pepleomycin for DTIC. The combination of ACNU and DTIC appeared to cause delayed myelosuppression with moderate leukopenia and thrombocytopenia. Reversible hepatotoxicity by DTIC was seen 4 weeks after chemotherapy.The patient was observed periodically and no evidence of recurrent or metastatic lesion was found one year after the operation.

A Case of Amelanotic Malignant Melanoma of the Female Urethra

We report a case of amelanotic malignant melanoma of the female urethra. The clinical course was unusually long and complicated by asynchronous resectable metastases to the lung and the brain. The patient died of generalized metastasis in spite of successful resection of the metastatic lesions and post-operative chemotherapy, two years and five months after the first presentation. To the best of our knowledge this is the second reported case of amelanotic melanoma in the female urethra.