A Case of von Recklinghausen's Disease with Bilateral Pheochromocytoma-Malignant Peripheral Nerve Sheath Tumors of the Adrenal and Gastrointestinal Autonomic Nerve Tumors

Sakaguchi, Nobuki; Sakai, Kenji; Itô, Makoto; Baba, Toshihide; Fukuzawa, Masao; Hotchi, Masao

doi:10.1097/00000478-199607000-00013

Cited by 63 publications

(32 citation statements)

References 21 publications

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“…162 Myxoid malignant peripheral nerve sheath tumors may arise de novo or in the setting of neurofibromatosis. 173,174 Rhabdomyosarcomas characteristically are glycogen rich and manifest an immunohistochemical profile (desmin þ ve/S100 Àve) unlikely to be confused with melanoma. Malignant myoepithelioma manifests myxoid, spindled, epithelioid, and plasmacytoid zones in a solid or partly cystic lesion; cells tend to have an epithelioid/rhabdoid cytomorphology and to decorate with antibodies to S100 protein, smooth muscle actin, and CK.…”

Section: Differential Diagnosismentioning

confidence: 99%

Unusual variants of malignant melanoma

2006

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A potential diagnostic pitfall in the histologic assessment of melanoma is the inability to recognize unusual melanoma variants. Of these, the more treacherous examples include the desmoplastic melanoma, the nevoid melanoma, the so-called 'minimal-deviation melanoma,' melanoma with prominent pigment synthesis or 'animal-type melanoma,' and the malignant blue nevus. Also problematic are the unusual phenotypic profiles seen in vertical growth phase melanomas; these include those tumors whose morphological peculiarities mimic cancers of nonmelanocytic lineage and those melanomas that express aberrant antigenic profiles not commonly associated with a melanocytic histogenesis. Metaplastic change in melanoma, balloon cell melanoma, signet-ring cell melanoma, myxoid melanoma, small cell melanoma and rhabdoid melanoma all have the potential to mimic metastatic and primary neoplasms of different lineage derivations. Abnormal immunohistochemical expression of CD 34, cytokeratins, epithelial membrane antigen, and smooth muscle markers as well as the deficient expression of S100 protein and melanocyte lineage-specific markers such as GP100 protein (ie HMB-45 antibody) and A103 (ie Melan-A) also present confusing diagnostic challenges. In this review, we will discuss in some detail certain of these novel clinicopathologic types of melanoma, as well as the abnormal phenotypic expressions seen in vertical growth phase melanoma. Modern Pathology (2006) 19, S41-S70. doi:10.1038/modpathol.3800516Keywords: melanoma; variants; phenotype; immunohistochemistry; morphology Desmoplastic melanoma Introduction and Clinical FeaturesDemoplastic melanoma is a rare variant of malignant melanoma first recognized in 1971.1 Desmoplastic and neurotropic melanoma may be mistaken clinically for a scar, a fibroma, a basal cell carcinoma, or a fibromatosis. Sometimes there is pronounced mucin deposition that imparts a boggy quality to the lesion. 2,3 The clinical clue to the diagnosis, when present, is cutaneous or mucosal pigmentation overlying a palpable dermal or submucosal nodule. That said, only half of desmoplastic melanomas are clinically pigmented. 3 Desmoplastic melanomas tend to occur in the head and neck area and the upper back [4][5][6][7] but are also seen in mucosal sites such as the vulva or gingiva 8 and in acral locations. Typically, they occur in older patients, with mean ages in the larger series falling into the sixth to eighth decades of life. 4,6,[9][10][11][12][13][14][15] Larger series show a male preponderance of 1.75 to 1. 15 Although any given desmoplastic melanoma can be deeply invasive, when matched for depth of invasion, they are associated with a lesser risk of metastatic disease than conventional melanomas of similar depth. The classical clinical finding is that of a pale or fleshy firm nodule reminiscent of a scar, which tends to delay clinical diagnosis and biopsy. Carlson et al,6 who reported an equal distribution in men and women, found most tumors to be located in the head and neck area (75%) and to be nonpigment...

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Section: Differential Diagnosismentioning

confidence: 99%

Unusual variants of malignant melanoma

2006

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“…Because positive staining for KIT has been required for the diagnosis and nosology of GISTs since 1998, it is possible that these tumors were reported as separate tumors in previous reports (5). To our knowledge, there have been 8 documented cases, including the present case, of concurrent PCC and GIST (6)(7)(8)(9)(10)(11), and only 2 cases of concurrent PCC, GIST, and MPNST (11). PCCs are generally bilateral, and GISTs are generally multiple.…”

Section: Discussionmentioning

confidence: 61%

A Case of Neurofibromatosis Type 1 Coinciding with Bilateral Pheochromocytomas, Multiple Gastrointestinal Stromal Tumors, and Malignant Peripheral Nerve Sheath Tumor

et al. 2012

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Neurofibromatosis type 1 (NF1) is associated with benign and malignant neoplasms, but the coincidence of abdominal neoplasms is rare. A 65-year-old woman with NF1 had episodes of nausea, tachycardia, hypertension, and loss of consciousness. Bilateral adrenal tumors were detected by abdominal computed tomography, and plasma and urinary catecholamine levels were elevated. Open bilateral adrenalectomy and histological findings revealed bilateral pheochromocytomas (PCCs). Furthermore, malignant peripheral nerve sheath tumor (MPNST) and multiple gastrointestinal stromal tumors (GISTs) were incidentally found in the abdominal cavity. Early diagnosis of abdominal neoplasms in NF1 patients is important because of the risk of malignancy, organic complications and hemorrhagic-obstructive complications.

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“…However, it is very rare that these three disorders (NF1, GIST and pheochromocytoma) occur simultaneously. To the best of our knowledge, there have only been 12 documented cases (10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20) of NF1 with concurrent pheochromocytoma and GIST lesions previously published in the English literature; we herein report three new cases. The characteristics of all 15 patients are summarized in Table. Furthermore, our case is the first case of bilateral pheochromocytoma lesions with a composite tumor (pheochromocytoma plus ganglioneuroma) and a GIST in Meckel's diverticulum.…”

Section: Discussionmentioning

confidence: 90%