Amelanotic primary cervical malignant melanoma:A case report and review of literature

BACKGROUND Primary malignant melanoma of the cervix(PMMC)is an extremely rare disease that originates from primary cervical malignant melanoma and frequently re-presents a challenge in disease diagnosis due to unclarified clinical and histo-logical presentations,particularly those without melanin.CASE SUMMARY Here,we report a case of amelanotic PMMC,with a history of breast cancer and thyroid carcinoma.The patient was finally diagnosed by immunohistochemical staining and staged as IB2 based on the International Federation of Gynecology and Obstetrics with reference to National Comprehensive Cancer Network guide-lines and was treated with radical hysterectomy,bilateral salpingo-oophorectomy and pelvic lymphadenectomy.She then received combination therapy consisting of immunotherapy with tislelizumab and radiofrequency hyperthermia.She has remained free of disease for more than 1 year.CONCLUSION The differential diagnosis process reenforced the notion that immunohisto-chemical staining is the most reliable approach for amelanotic PMMC diagnosis.Due to the lack of established therapeutic guidelines,empirical information from limited available studies does not provide the rationale for treatment-decision making.By integrating'omics'technologies and patient-derived xenografts or mini-patient-derived xenograft models this will help to identify selective thera-peutic window(s)and screen the appropriate therapeutics for targeted therapies,immune checkpoint blockade or combination therapy strategies effectively and precisely that will ultimately improve patient survival.

Amelanotic Malignant Melanoma Mimicking Hemangioma of the Hand: One Case Report and Literature Review

Introduction Malignant melanoma （MM） is one of the most deadly cancerst. Although the disease accounts for only about 4% of skin cancer related cases, it is responsible for about 79% of skin cancer deaths. Early diagnosis of MM is, therefore, essential for appropriate treatment decision and, in turn, may give patients the best chance for prolonged survival. About 6% to 8% of malignant melanomas lack typical pigmentation and tend to be managed as benign lesions, making accurate early diagnosis difficultt61. Though subungual MM is rare,

Advanced primary amelanotic malignant melanoma of the esophagus: A case report

BACKGROUND Primary malignant melanoma of the esophagus accounts for 0.1%-0.2%of all esophageal malignancies,including melanotic and amelanotic melanomas.Primary amelanotic malignant melanoma of the esophagus is extremely rare,and only about 20 cases have been published in the literature to date.Most primary malignant melanomas of the esophagus are diagnosed following development of metastatic lesions and thus have a very poor prognosis.The median survival duration of patients with metastatic melanoma has been reported to be 6.2 mo.CASE SUMMARY A 49-year-old woman was referred to our hospital with a diagnosis of esophageal cancer.Endoscopy,biopsy,imaging evaluation,and physical examination at our hospital indicated a diagnosis of advanced primary amelanotic malignant melanoma of the esophagus.Immunohistochemical staining confirmed melanoma.Nuclear medicine examination revealed a left iliac bone metastatic lesion.After discharge,the patient self-administered apatinib for 3 mo,followed by oral treatment with Chinese medicines(also self-administered)for 2 mo.No treatments had been taken since then.The patient has survived with no growth out to the most recent follow-up(24 mo post diagnosis),and she always presented with a positive attitude about her condition during this period.CONCLUSION Survival following metastatic melanoma might be related to the pharmaceutical and Chinese medicine treatment and the patient's positive attitude.

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-α （PDG- FRA）. 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 aEer the admission. In both cases, molecular genetic analyses of 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 K/T and PDGFRA genes.

Primary thoracolumbar intraspinal malignant melanoma:A case report

BACKGROUND Primary intraspinal malignant melanoma is a very rare tumor that most often occurs in the cervical,thoracic,or thoracolumbar segment.CASE SUMMARY A rare case of primary thoracolumbar malignant melanoma is described.A 45-year-old female patient complained of low back pain with numbness and fatigue in both lower limbs.MR revealed an intradural space-occupying lesion at the thoracic 12 to lumbar 1 level.The tumor was partially excised,and a malignant melanoma was confirmed by histopathology.CONCLUSION Primary intraspinal malignant melanoma has rarely been reported,and surgical resection and related characteristics and diagnoses have been discussed.

Malignant melanoma resection and reconstruction with the first manifestation of lumbar metastasis:A case report

BACKGROUND Malignant melanoma(MM)has shown an increasing incidence worldwide,and a potential to metastasize to almost any part of the body.Clinically,MM with bone metastasis as the initial manifestation is extremely rare.Spinal metastatic MM can cause spinal cord or nerve root compression,resulting in severe pain and paralysis.Currently,the primary clinical treatments for MM are surgical resection in conjunction with chemotherapy,radiotherapy,and immunotherapy.CASE SUMMARY Here,we report the case of a 52-year-old male who presented to the clinic with progressive low back pain and limited nerve function.No primary lesion or spinal cord compression was detected from computed tomography and magnetic resonance imaging of the lumbar vertebrae and positron emission tomography scan.A lumbar puncture biopsy confirmed the diagnosis of lumbar spine metastatic MM.Following surgical resection,the patient’s quality of life improved,symptoms were relieved,and comprehensive treatment was initiated,which prevented recurrence.CONCLUSION Spinal metastatic MM is clinically rare,and may cause neurological symptoms,including paraplegia.Currently,the clinical treatment plan consists of surgical resection in combination with chemotherapy,radiotherapy,and immunotherapy.

Primary malignant melanoma of the esophagus:A case report

BACKGROUND Primary malignant melanoma of the esophagus(PMME)is a rare malignant disease whose clinical and molecular pathological features,origin and pathoge-nesis,diagnosis and treatment have not been elucidated.CASE SUMMARY In this paper,we report a case of a 73-year-old male with PMME.The patient complained of progressive dysphagia accompanied by substantial weight loss.Gastroscopy revealed a purple black bulging-type mass in the lower esophagus with easy bleeding on contact and scattered satellite lesions in the stomach.Histopathological biopsy revealed melanocytes in the esophageal mucosa.Physical examination and multidisciplinary consultation led to diagnostic exclusion of melanoma originating in other organs,such as the skin.Through this case report and literature review,we aimed to describe the clinical and molecular pathological features of PMME and summarize possible pathways of pathoge-nesis as well as cutting-edge therapeutic advances.CONCLUSION PMME is a rare malignancy of the esophagus with a poor prognosis.Clinicians should raise their awareness and be able to identify early lesions.

Primary malignant melanoma of the esophagus combined with squamous cell carcinoma:A case report

BACKGROUND Primary malignant melanoma of the esophagus is a rare malignant tumor of the esophagus,and its combination with squamous cell carcinoma is also rare.Here,we report the diagnosis and treatment of a case of primary esophageal malignant melanoma combined with squamous cell carcinoma.CASE SUMMARY A middle-aged man underwent gastroscopy for dysphagia.Gastroscopy revealed multiple bulging esophageal lesions,and after pathologic and immunohistochemical analyses,the patient was finally diagnosed with"malignant melanoma with squamous cell carcinoma".This patient received comprehensive treatment.After one year of follow-up,the patient was in good condition,and the esophageal lesions seen on gastroscopy were controlled,but unfortunately,liver metastasis occurred.CONCLUSION When multiple esophageal lesions are present,the possibility of multiple pathological sources should be considered.This patient was diagnosed with primary esophageal malignant melanoma combined with squamous cell carcinoma.

Sino-Nasal Malignant Melanoma: A Case Report

Melanoma is a malignant tumor and is commonly found second least in the head and neck region, with approximately 10% - 25% of melanomas followed by ear (8% - 11%). We reported a case of sino-nasal malignant melanoma in a 46-year-old Asian lady who presented with epistaxis and dysphagia. By nasoendoscopy and CT scan imaging, the diagnosis of sino-nasal malignant melanoma was later confirmed by histopathology examination along with immunohistochemistry by using Melan A and S100. Malignant melanoma in the head and neck is rare and has a poor prognosis. There has been an increase in the incidence of 5% per year and mortality at 2% per year. This dictates malignant melanoma has rapidly increased compared to any other cancer except lung cancer in women and has contributed to the third highest number of deaths among all cancers. The mortality rate has also increased, and that is attributed to the negligence of symptoms during the initial period. This usually leads to patients seeking consultation during the advanced stage of the disease. In conclusion, this paper is to report that malignant melanoma may be one of the differentials of sino-nasal masses, and it may mimic nasopharyngeal carcinoma in its presentation.

Plantar Spitz Nevus Resembling Malignant Melanoma: Description of Immunohistochemical Findings

Spitz nevus (SN) is predominantly distributed throughout the lower extremities, while an acral location is rare. Since SN occasionally resembles the clinicopathological presentation of malignant melanoma (MM), it presents a diagnostic challenge, especially on glabrous skin. Past reports suggest that several genetic aberrations are associated with specific clinicopathological subtypes of melanocytic tumors. Immunohistochemistry can provide a clue to the presence or absence of a molecular aberration typical of Spitz tumors. We describe a case of a plantar SN with genetic analysis, including anaplastic lymphoma kinase (ALK), ROS proto-oncogene 1 (ROS1), BRAF (V600E) protein, and BRCA1-associated protein-1 (BAP1). However, we were not able to detect a characteristic gene aberration. To the best of our knowledge, no genetic aberrations in plantar SN cases have been reported. A comprehensive understanding of tumor genomics is expected to play an essential role in the classification of melanocytic tumors. Further genetic research on plantar SN is required to establish new criteria for distinguishing between SN and MM.

Primary pulmonary malignant melanoma diagnosed with percutaneous biopsy tissue:A case report

BACKGROUND Primary malignant melanoma of the lung (PMML) is a rare and highly malignanttumor with a poor prognosis. Here, we report a PMML case diagnosed bycomputed tomography (CT)-guided percutaneous biopsy, describe itspathological features and review relevant literature to improve our understandingof this tumor.CASE SUMMARY A 64-year-old Chinese female presented with productive cough for 7 mo. A chestCT scan showed a large and space-occupying lesion in Lingual lobe. Positronemission tomography-CT revealed multiple nodules located in the superior lobeapicoposterior segment of her left lung. Brain magnetic resonance imagingshowed numerous enhancing nodules, suggesting brain metastasis. AbdominalCT scan did not show any abnormalities. By CT-guided percutaneous biopsy, fourpieces of gray and taupe tissues (1 cm length and 0.1 mm in diameter) wereobtained. After pathologic examination, the tumor was found to consist ofepidermal and nested small round cells, fibrosis and thin-walled blood vessels.The finding was suggestive of malignant melanoma. To confirm the diagnosis,pathological morphology and immunophenotypic features of the biopsyspecimens were observed. The patient denied any history of skin tumors. Noabnormal lesions were detected in other sites of the body. Molecular testing waspositive for wild-type EGFR and KIT gene mutations. Finally, the clinical andpathological findings suggested PMML.CONCLUSION PMML is very rare, and the percutaneous biopsy tissue is limited. Therefore,comprehensive consideration of histology, immunohistochemistry, imaging, andclinical information is important for the diagnosis of PMML.

Boron neutron capture therapy for malignant melanoma： first clinical case report in China

A phase Ⅰ/Ⅱ clinical trial for treating malignant melanoma by boron neutron capture therapy（BNCT） was designed to evaluate whether the world＇s first in-hospital neutron irradiator（IHNI） was qualified for BNCT. In this clinical trial planning to enroll 30 patients, the first case was treated on August 19, 2014. We present the protocol of this clinical trial, the treating procedure, and the clinical outcome of this first case. Only grade 2 acute radiation injury was observed during the first four weeks after BNCT and the injury healed after treatment. No late radiation injury was found during the 24-month follow-up. Based on positron emission tomography-computed tomography（PET/CT） scan, pathological analysis and gross examination, the patient showed a complete response to BNCT,indicating that BNCT is a potent therapy against malignant melanoma and IHNI has the potential to enable the delivery of BNCT in hospitals.

Primary malignant melanoma of uterine cervix: a suggestion of new scheme of treatment combination

Historically, the lack of melanocytes in the vaginal and cervical mucus membranes has deterred the findings of primary melanomas. Mainly due to its rarity, difficulty to diagnose, and poor prognosis, there has been no absolute agreement on comprehensive treatment so far. In this case report, we present a case of a 46-year-old woman with primary malignant melanoma of uterine cervix. She underwent neo-adjuvant chemotherapy initially followed by a radical hysterectomy. After adjuvant concurrent chemo-radiation, the patient has been followed up for 24 months. So far, she has not shown any symptoms or signs of recurrence. Further studies with more cases based on variable combinations of treatment regimen have been on the way.

Laparoscopic abdomino-perineal resection for patients with anorectal malignant melanoma:a report of 4 cases

Anorectal malignant melanoma is a very rare but lethal disease. Patients with anorectal malignant melanoma commonly complain for changes in bowel habits and rectal bleeding. Therefore, anorectal malignant melanoma is often misdiagnosed as hemorrhoids, polyp or rectal cancer. Surgery is the mainstay of treatment for patients with anorectal malignant melanoma. However, whether abdominoperineal resection or wide local excision is the most appropriate surgical approach is still a controversial issue. Recently, with the great development of laparoscopic techniques, more and more operations can be performed by laparoscopic techniques. However, laparoscopic abdominoperineal resection for management of anorectal malignant melanoma has been rarely reported. In this study, we reported 4 patients with anorectal malignant melanoma underwent laparoscopic abdominoperineal resection. The outcomes of these patients were relatively good during a long time follow-up. Meanwhile, we reviewed the relevant studies with particular focus surgical treatment.

Primary malignant melanoma of the liver: A case report

Primary malignant melanoma of the liver is an exceedingly rare tumor. Only 12 cases have been reported in the worldwide literature. We present a case of isolated malignant melanoma of the liver occurring in a 36-year-old Chinese male patient. Comprehensive dermatologic and ophthalmologic examinations revealed no evidence of a cutaneous or ocular primary lesion. Other lesions in brain, respiratory tract, lung, gastrointestinal tract and anus, were not demonstrated by serial position emission tomography (PET). Microscopic examination of the resected specimen revealed a malignant melanoma, which was confi rmed by immunohistochemical staining for HMB-45, S-100 protein, melanoma-pan and vimentin. Moreover, electron microscopy demonstrated melanosomes in tumor cell cytoplasm. Our case shows that primary malignant melanoma may occur in the liver and should be considered when the histopathological appearance is not typical for other hepatic neoplasm.

Selective Expression of Progesterone Receptor in Malignant Melanoma Was Inversely Correlated with PCNA

To investigate the role of progesterone receptor （PR） expression in malignant melanoma （MM）, PR and proliferative cell nuclear antigen （PCNA） expression were immunohistochemistrically evaluated in a series of 35 specimens of MM, and the correlation between the immunohistochemistrical findings and clinicopathological data was also analyzed. PR expression was detected in 25.7% （9/35） of the patients with MM. No PR expression was observed in nevi. PR expression was inversely correlated with PCNA expression （r=-0.353, P=-0.026）. PR expression was slightly increased in females, subjects aged under 55 y, those with ulceration, non-acral subtype and diagnosis delay longer than 1 y, but the difference was not statistically significant. Selective expression of progesterone receptor in malignant melanoma might be correlated with inhibited tumor growth.

Up-regulation of Human Leukocyte Antigen G Expression in Primary Cutaneous Malignant Melanoma Associated with Host-vs-tumor Immune Response

Human leukocyte antigen G （HLA-G） is one of the molecules implicated in immunotolerance. To investigate the role of HLA-G in primary cutaneous malignant melanoma （CMM）, a series of 47 skin melanocytic lesions were immunohistochemically evaluated. The correlation between HLA-G expression and CMM clinicohistopahtological data and Bcl-2 expression was also analyzed. HLA-G expression was detected in a variety of cell types. No significant difference in HLA-G expression was observed between malignant and non-malignant melanocytic lesions. HLA-G expression was significantly correlated with the inflammatory infiltration and Bcl-2 expression, whereas no significant correlation with ulceration, tumor thickness, clinical stage, histopathological subtypes were observed. HLA-G expression may be the result of host immune reaction in tumor microenvironment rather than a malignant feature of CMM.

Metastatic Ovarian Tumor of Vulvar Malignant Melanoma in a 43-Year-Old Woman: A Case Report and Literature Review

An ovarian malignant melanoma sometimes occurs from ovarian teratoma. Ovarian metastatic malignant melanoma is extremely rare. We describe a patient in whom vulvar melanoma (previously resected) metastasized to the ovary, making ovarian metastatic malignant melanoma. A 43-year-old Japanese woman was referred to us because of left ovarian tumor. She had undergone resection for malignant melanoma on the right labia minora with inguinal lymph node metastasis (pT1bN1aM0, stage IIIA, FIGO 2008). Eighteen months after this surgery, CT scans revealed left ovarian tumor and swelled pelvic lymph nodes, with a pelvic examination disclosing a left adnexal solid mass, with normal serum CA125 level (21.7 U/mL). Laparotomy revealed a left solid ovarian tumor measuring 4 cm, which was covered with a smooth grayish capsule. The right ovary, uterus, and pelvic cavity appeared normal. Upon sectioning during the surgery, the cross-sectional surface of the left ovary revealed a dark brown solid tumor. Following an intra-operative frozen-section diagnosis as metastatic melanoma, total hysterectomy with bilateral salpingo-oophorectomy and pelvic lymph dissection was performed. Histological examination confirmed the diagnosis as malignant melanoma metastasis to the left ovary and the obturator lymph node: the same laterality (left) as the primary site. The tumor was entirely composed of malignant melanoma cells with no evidence of teratoma. Combined chemotherapy with dabrafenib mesylate and trametinib was planned based on the positive BRAF mutations. This case highlights the importance that physicians should have high index of suspicion for the occurrence of ovarian melanoma metastasis after melanoma surgery. We also made extensive literature review on this issue, of which description may contribute to better understanding of this condition.

Primary malignant melanoma of lacrimal sac

Dear Sir,We write to present a case report of primary malignant melanoma of the lacrimal sac.Tumors of the lacrimal sac are rare,and most of them are benign and of epithelial origin[1].Malignant melanoma of the lacrimal sac is even rarer accounting for 5%of lacrimal sac tumors and 0.7%of ocular melanoma[2,3].To our knowledge,only 27 cases with complete clinical information have ever been reported worldwide in English literature[4-8].The disease has an insidious onset and masquerades as a chronic

Longest survival with primary intracranial malignant melanoma:A case report and literature review

BACKGROUND Primary intracranial malignant melanoma(PIMM)is rare,and its prognosis is very poor.It is not clear what systematic treatment strategy can achieve long-term survival.This case study attempted to identify the optimal strategy for long-term survival outcomes by reviewing the PIMM patient with the longest survival following comprehensive treatment and by reviewing the related literature.CASE SUMMARY The patient is a 47-year-old Chinese man who suffered from dizziness and gait disturbance.He underwent surgery for right cerebellum melanoma and was subsequently diagnosed by pathology in June 2000.After the surgery,the patient received three cycles of chemotherapy but relapsed locally within 4 mo.Following the second surgery for total tumor resection,the patient received an injection of Newcastle disease virus-modified tumor vaccine,interferon,andβ-elemene treatment.The patient was tumor-free with a normal life for 21 years before the onset of the recurrence of melanoma without any symptoms in July 2021.A third gross-total resection with adjuvant radiotherapy and temozolomide therapy was performed.Brain magnetic resonance imaging showed no residual tumor or recurrence 3 mo after the 3rd operation,and the patient recovered well without neurological dysfunction until the last follow-up in June 2022,which was 22 years following the initial treatment.CONCLUSION It is important for patients with PIMM to receive comprehensive treatment to enable the application of the most appropriate treatment strategies.Long-term survival is not impossible in patients with these malignancies.