Retroperitoneal undifferentiated pleomorphic sarcoma having microsatellite instability associated with Muir-Torre syndrome: case report and review of literature.

[dedifferentiated liposarcoma]

Muir-Torre syndrome represents a rare autosomal dominant familial cancer predisposition disorder defined by the occurrence of cutaneous sebaceous tumors and an internal malignancy , most commonly gastrointestinal carcinoma . Most examples of hereditary non-polyposis cancer syndrome (Lynch syndrome ), including the Muir-Torre syndrome , are associated with microsatellite instability (MSI ) and germline mutations in mismatch repair genes-most commonly MLH 1 or MSH 2 . We present a 58 -year -old man with Muir-Torre syndrome and a large retroperitoneal mass (14 .3 cm in greatest dimension ) encompassing the left adrenal gland . Sections showed a cellular malignant tumor composed of spindle cells with a high mitotic index and lacking morphologic evidence of adipocytic differentiation . It was weakly reactive for smooth muscle actin (SMA ) and negative for desmin , CD 117 , CD 31 , CD 34 , S 100 protein and pan-cytokeratin . Further immunohistochemical analysis revealed intact expression of MLH 1 but loss of MSH 2 in tumor nuclei . Compared to non-neoplastic tissue , the tumor showed MSI in five of seven dinucleotide markers . Fluorescence in situ hybridization (FISH ) failed to reveal 12 q 15 amplification , effectively excluding dedifferentiated liposarcoma as a diagnostic consideration . This is a rare case of a patient with Muir-Torre syndrome who developed a related high -grade undifferentiated pleomorphic sarcoma as the associated internal malignancy .

Diseases
Validation

Diseases presenting "cancer" symptom

achondroplasia

acute rheumatic fever

adrenal incidentaloma

alpha-thalassemia

benign recurrent intrahepatic cholestasis

cadasil

canavan disease

carcinoma of the gallbladder

cholangiocarcinoma

coats disease

congenital adrenal hyperplasia

congenital diaphragmatic hernia

cowden syndrome

cushing syndrome

cutaneous mastocytosis

dedifferentiated liposarcoma

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

erdheim-chester disease

erythropoietic protoporphyria

esophageal adenocarcinoma

esophageal carcinoma

esophageal squamous cell carcinoma

familial hypocalciuric hypercalcemia

familial mediterranean fever

gm1 gangliosidosis

heparin-induced thrombocytopenia

hereditary cerebral hemorrhage with amyloidosis

hirschsprung disease

hodgkin lymphoma, classical

inclusion body myositis

junctional epidermolysis bullosa

kabuki syndrome

kallmann syndrome

kindler syndrome

lamellar ichthyosis

liposarcoma

locked-in syndrome

lymphangioleiomyomatosis

monosomy 21

neuralgic amyotrophy

oculocutaneous albinism

oligodontia

oral submucous fibrosis

papillon-lefèvre syndrome

pendred syndrome

pleomorphic liposarcoma

primary effusion lymphoma

proteus syndrome

pyomyositis

pyruvate dehydrogenase deficiency

severe combined immunodeficiency

sneddon syndrome

systemic capillary leak syndrome

triple a syndrome

von hippel-lindau disease

waldenström macroglobulinemia

well-differentiated liposarcoma

werner syndrome

wiskott-aldrich syndrome

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

This symptom has already been validated