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G Chir Vol. 35 - n. 9/10 - pp. 246-249 September-October 2014
clinical practice
Small bowel intussussception due to metastatic melanoma of unknown primary site. Case report F. STAGNITTI, S. ORSINI, A. MARTELLUCCI, A. TUDISCO, M. AVALLONE, F. AIUTI, V. DI GIROLAMO, F. STEFANELLI, F. DE ANGELIS, A. COSTANTINO, C. DI GRAZIA, A. NAPOLEONI, S. NICODEMI, B. CIPRIANI, F. CECI, R. MOSILLO, S. CORELLI, G. CASCIARO, E. SPAZIANI SUMMARY: Small bowel intussussception due to metastatic melanoma of unknown primary site. Case report. F. STAGNITTI, S. ORSINI, A. MARTELLUCCI, A. TUDISCO, M. AVALLONE, F. AIUTI, V. DI GIROLAMO, F. STEFANELLI, F. DE ANGELIS, A. COSTANTINO, C. DI GRAZIA, A. NAPOLEONI, S. NICODEMI, B. CIPRIANI, F. CECI, R. MOSILLO, S. CORELLI, G. CASCIARO, E. SPAZIANI
Malignant melanoma is characterized by metastases also to the gastrointestinal tract, especially in the small bowel. The diagnosis is often delayed because unspecific clinical presentation (frequently as chronic iron deficiency anemia, rectal bleeding or intestinal obstruction). We present a case of melanoma of unknown primary site, with clinical presentation of intestinal obstruction. A segmental resection of the ileum was performed including mesentery with lymph nodes. Histology revealed metastatic melanoma from unknown primary. PET and MRI confirmed disseminated disease without brain metastasis.
KEY WORDS: Malignant melanoma - Unknown primary - Intestinal intussusceptions - Ileum - Metastasis.
Introduction The gastrointestinal tract is a frequent site of malignant melanoma metastases (35.6%; 1). Diagnosis is often delayed because of atypical clinical onset: chronic iron deficiency anaemia, chronic abdominal pain, rectal bleeding, intestinal obstruction (2, 3).
Case report A 51-year old man was admitted to the General Surgery Department with acute abdominal pain since a week. In the last two days he was suffering from fever, persisting vomiting, abdominal pain and no stool passage. The ultrasound of the abdomen revealed “flatus and intestinal enlargement”; plain abdominal X-ray detected “central air fluid level in the small intestine”. Rou-
General Surgery Department, “Sapienza” University of Rome Pontine Campus, “A. Fiorini” Hospital, Terracina (Latina), Italy (Director: Prof. F. Stagnitti) Corresponding Author: Silvia Orsini, e-mail: [email protected] © Copyright 2014, CIC Edizioni Internazionali, Roma
246
tine laboratory tests showed WC: 15,85x103 (neutrophils 79,3%); HB 10.2; Hct 32,5%, LDH 297. A nasogastric tube was positioned, which drained 400 cc of alimentary content. The past medical history was unremarkable. Physical examination showed abdominal swelling air mainly in low hypogastrium and pain. Peristalsis was reduced. Enlarged fixed painful lymphatic nodes were present in the right axilla (Fig. 1). Tumor markers CEA, CA 19.9, AFP were normal. During the hospital stay the clinical conditions worsened, with vomiting, drop off Hb, acid-base imbalance. The abdomen was painful, contracted without peristalsis. Blumberg was positive. Plain abdominal X-ray underlined the increase of air-fluid levels. Patient underwent emergency laparotomy. We found a bulky tumor involving ileum and causing the intussusception (Fig. 2). We performed a resection of 36 cm of the ileum including the large tumor and the mesentery with lymph nodes (Fig. 3). During hospital stay CT showed several lymph nodes (the biggest one was about 60 mm) in the right axilla with small bilateral pleural and pelvic effusion. The right axilla ultrasound showed bulky dysomogeneous tumour of doubtful evaluation. In the left axilla there were multiples “reactive” lymph nodes. Pathology showed the presence of a bulky neoplasm
0650 8_Small_STAGNITTI.qxp_- 31/10/14 15:30 Pagina 247
Small bowel intussussception due to metastatic melanoma of unknown primary site. Case report
Fig. 1 - Right axilla tumor.
Fig. 3 - Tumor and lymph node.
Fig. 4 - Histology of small bowel resected.
Fig. 2 - Intestinal intussusception.
(5x4 cm) extended up to the ileal mucosa with focal areas of ulceration and stenosis of bowel lumen. One of eleven lymph nodes was positive for metastasis; the margins of resection were healthy. The immunophenotype of neoplastic population was: Vimentin, S100 and HMB45 intensely and diffusely positive; MART-1 focally positive; cytokeratin AE1/AE3, EMA, CD45, chromogranin, synaptophysin, CD34 and c-kit negative; NSE not conclusive; Ki67 12% (Fig. 4). The diagnosis was metastasis of unknown primary malignant melanoma. In order to check typical melanoma localization, the patient was subjected to opthamological, otorhinolaryngological and oncological videat with MRI and PET scan. PET scan revealed pathological hypermetabolic nodal masses in the right paramedian posterior cervical region (SUV max 6.3), right laterocervical, left retro-clavicular (SUV max 3.6), left back and scapula regions (SUV max 3.6), right axilla (SUV max 11.3), right para-
sternum region (SUV max 4.9), lower margin of the liver (SUV max 6.4), pre-sacral region (SUV max 4), left abdominal wall, left and right thigh (SUV max 6.9 and 5.8), bladder (SUV amx 5.6) with hypermetabolic focus on D7 paravertebral line (Fig. 5). Vertebral MRI confirmed “foci” described on PET and revealed other multiple masses of unknown pattern on spine, medulla, aortic and para aortic lymph nodes. Dermatologist found a suspicious naevus in epigastrium. The axillary lymphadenectomy (Fig. 1) was performed. Histology confirmed metastatic localization of melanoma. The naevus was benign. Oncologist diagnosed malignant melanoma IV stage (according to American Joint Committee on Cancer). The patient died 8 weeks after the beginning of chemotherapy, with CNS metastases.
Discussion In 4-9% of all melanoma cases the primary site is unknown. In some patients it is possible to describe a pre-
247
0650 8_Small_STAGNITTI.qxp_- 31/10/14 15:30 Pagina 248
F. Stagnitti et al.
ging can improve detection of melanoma metastases with a higher sensitivity and specificity than conventional CT (8, 9). Conventional X-ray imaging does not assure diagnostic advantages for metastases, but is useful to diagnose an intestinal obstruction (10, 11). Surgery is the only therapy for patient with metastatic melanoma. According to Murawa et al., it is strictly necessary a wide excision of the lesion (with free resection margins) with mesentery and its lymph nodes (1, 6). In this way, as a best possible case a 5-year survival rate up to 40%. However, the average survival rate of patient operated for gastro-intestinal melanoma metastasis is 15 months (1). In our case diagnostic difficulties were the negative case history about melanoma and suspicious nevus excision. The clinical features addressed toward emergency surgical treatment. The pathological features (both of intestinal and axilla tumors) were important to evidence a metastatic melanoma, and therefore to guide the diagnostic workup (11). It was performed a detailed analysis about every possible location of melanoma (oral mucosa, eye, skin): each area was negative. CT and especially PET scan allowed to know cancer extent and to define the IV stage. In our case, surgical treatment was the first means for diagnosis, and also for treating the obstruction.
Conclusions Fig. 5 - PET scan of thorax, abdomen.
vious suspicious naevus, which spontaneously regressed (1, 4). Diagnosis is often delayed due to long asymptomatic period of tumor growth or aspecific abdominal symptoms (5). Often as in our case, tumor onset is a surgical emergency (ileal intussusception) (7). Melanoma of unknown primary is a differential diagnosis after a complete physical exam of the patient (including non exposed areas, as subcuticular and under nail tissues, mucosa and eye). Abdominal ultrasound allows the research of melanoma metastasis (4, 12). PET ima-
Intestinal obstruction due to melanoma metastasis is a rare surgical condition. In any case, it is important a very detailed familiar and case history, beside a “total body” physical exam of the patient. To achieve a correct diagnostic, we suggest performing an evaluation about any typical site of primary focus melanoma (eye, oral mucosa, skin). As first step of diagnosis, abdomen ultrasound is useful to diagnose intussusception, but it is necessary to complete the work-up with CT and PET imaging. When the clinical presentation is intestinal obstruction, surgery is the only treatment and the only possibility to achieve a correct diagnosis. It is useful to perform the histopathologic exam including the immunophenotype of neoplastic population.
References 1. Murawa D, Spychala A. Melanoma of unknown primary as a cause of intestinal obstruction – a case description. Polski Przeglad Chirurgiczny. 2012;84(8):415-732. 2. Dogan M, Ozdemir S, Geçim E, Erden E, Içli F. Intestinal malignant melanoma presenting with small bowel invaginatio: a case report. The Turkish Journal of gastroenterology. 21(4):439-442. 3. Alvarez FA, Nicolas M, Goransky J, Vaccaro CA, Beskow A, Ca-
248
vadas D. Ileocolic intussusception due to intestinal metastatic melanoma. Case report and review of the literature. Int J Surg Case Rep. 2011;2(6):118-121. 4. Lens M, Bataille V, Krivokapic Z. Melanoma of the small intestine. Lancet Oncol. 2009 May;10(5):516-21. 5. Patti R, Cacciatori M, Guercio G, Territo V, Di Vita G. Intestinal melanoma: A broad spectrum of clinical presentation. Int
0650 8_Small_STAGNITTI.qxp_- 31/10/14 15:30 Pagina 249
Small bowel intussussception due to metastatic melanoma of unknown primary site. Case report J Surg Case Rep. 2012;3:395-398. 6. Nemec L, Fait V, Silak J. Gastrointestinal metastases of malignant melanoma. Rozhl Chir. 2010 Oct; 89(10):594-8. 7. Aktas A, Hod G, Topaloglu S, Calik A, Reis A, Piskin B. Metastatic cutaneous melanoma presented with ileal invagination: report of a case. Turkis Journal of Trauma and Emergency Surgery. 2010;16 (5):469-472. 8. Garbe C, Hauschild A, Saiag P, Middleton M, Spatz A, Grob JJ, Malvehy J, Newton-Bishop J, Stratigos A, Pehamberger H, Eggermont AM. Diagnosis and treatment of melanoma. European Consensus-based interdisciplinary guideline- Update 2012. Eur J Cancer. 2012 Oct;48(15):2375-90. 9. Mangas C, Parandelo C, Puig S, Gallardo F, Marcoval J, Azon A, Bartralot R, Bel S, Bigatà X, Curcò N, Dalmau J, Del Pozo LJ, Ferrandiz C, Formigon M, Nogues ME, Pedragosa R, Ro-
camora V, Sabat M, Salleras M. Initial evaluation, diagnosis, staging treatment, and follow-up of patient with primary cutaneus malignant melanoma. Consensus statement of the network of catalan and Balearic melanoma centers. Actas dermosifiliogr. 2010;101(2):129-142. 10. Vilcea ID, Vilcea AM, Mirea CS, Popescu CF, Mittrut P. Intestinal perforated malignant melanoma: diagnostic and therapeutic difficulties. Chirurgia (Bucur) 2012 Jul-Aug;107(4):529-33. 11. Patel RB, Vasava NC, Gandhi MB. Acute small bowel obstruction due to intussusception of malignant amelonatic melanoma of the small intestine. BMJ Case Report. 2012 Aug 1. 12. Shuji Suzuki, Shoichi Watanabe, Hiroshi Kato, Hideo Hattori, Akimichi Morita. A case of multiple metastatic malignant melanoma with the largest lesion in the ileum and no skin lesion. Kaohsiung Journal of Medical Sciences. 2012;28:683-688.
249
G Chir Vol. 35 - n. 9/10 - pp. 246-249 September-October 2014
clinical practice
Small bowel intussussception due to metastatic melanoma of unknown primary site. Case report F. STAGNITTI, S. ORSINI, A. MARTELLUCCI, A. TUDISCO, M. AVALLONE, F. AIUTI, V. DI GIROLAMO, F. STEFANELLI, F. DE ANGELIS, A. COSTANTINO, C. DI GRAZIA, A. NAPOLEONI, S. NICODEMI, B. CIPRIANI, F. CECI, R. MOSILLO, S. CORELLI, G. CASCIARO, E. SPAZIANI SUMMARY: Small bowel intussussception due to metastatic melanoma of unknown primary site. Case report. F. STAGNITTI, S. ORSINI, A. MARTELLUCCI, A. TUDISCO, M. AVALLONE, F. AIUTI, V. DI GIROLAMO, F. STEFANELLI, F. DE ANGELIS, A. COSTANTINO, C. DI GRAZIA, A. NAPOLEONI, S. NICODEMI, B. CIPRIANI, F. CECI, R. MOSILLO, S. CORELLI, G. CASCIARO, E. SPAZIANI
Malignant melanoma is characterized by metastases also to the gastrointestinal tract, especially in the small bowel. The diagnosis is often delayed because unspecific clinical presentation (frequently as chronic iron deficiency anemia, rectal bleeding or intestinal obstruction). We present a case of melanoma of unknown primary site, with clinical presentation of intestinal obstruction. A segmental resection of the ileum was performed including mesentery with lymph nodes. Histology revealed metastatic melanoma from unknown primary. PET and MRI confirmed disseminated disease without brain metastasis.
KEY WORDS: Malignant melanoma - Unknown primary - Intestinal intussusceptions - Ileum - Metastasis.
Introduction The gastrointestinal tract is a frequent site of malignant melanoma metastases (35.6%; 1). Diagnosis is often delayed because of atypical clinical onset: chronic iron deficiency anaemia, chronic abdominal pain, rectal bleeding, intestinal obstruction (2, 3).
Case report A 51-year old man was admitted to the General Surgery Department with acute abdominal pain since a week. In the last two days he was suffering from fever, persisting vomiting, abdominal pain and no stool passage. The ultrasound of the abdomen revealed “flatus and intestinal enlargement”; plain abdominal X-ray detected “central air fluid level in the small intestine”. Rou-
General Surgery Department, “Sapienza” University of Rome Pontine Campus, “A. Fiorini” Hospital, Terracina (Latina), Italy (Director: Prof. F. Stagnitti) Corresponding Author: Silvia Orsini, e-mail: [email protected] © Copyright 2014, CIC Edizioni Internazionali, Roma
246
tine laboratory tests showed WC: 15,85x103 (neutrophils 79,3%); HB 10.2; Hct 32,5%, LDH 297. A nasogastric tube was positioned, which drained 400 cc of alimentary content. The past medical history was unremarkable. Physical examination showed abdominal swelling air mainly in low hypogastrium and pain. Peristalsis was reduced. Enlarged fixed painful lymphatic nodes were present in the right axilla (Fig. 1). Tumor markers CEA, CA 19.9, AFP were normal. During the hospital stay the clinical conditions worsened, with vomiting, drop off Hb, acid-base imbalance. The abdomen was painful, contracted without peristalsis. Blumberg was positive. Plain abdominal X-ray underlined the increase of air-fluid levels. Patient underwent emergency laparotomy. We found a bulky tumor involving ileum and causing the intussusception (Fig. 2). We performed a resection of 36 cm of the ileum including the large tumor and the mesentery with lymph nodes (Fig. 3). During hospital stay CT showed several lymph nodes (the biggest one was about 60 mm) in the right axilla with small bilateral pleural and pelvic effusion. The right axilla ultrasound showed bulky dysomogeneous tumour of doubtful evaluation. In the left axilla there were multiples “reactive” lymph nodes. Pathology showed the presence of a bulky neoplasm
0650 8_Small_STAGNITTI.qxp_- 31/10/14 15:30 Pagina 247
Small bowel intussussception due to metastatic melanoma of unknown primary site. Case report
Fig. 1 - Right axilla tumor.
Fig. 3 - Tumor and lymph node.
Fig. 4 - Histology of small bowel resected.
Fig. 2 - Intestinal intussusception.
(5x4 cm) extended up to the ileal mucosa with focal areas of ulceration and stenosis of bowel lumen. One of eleven lymph nodes was positive for metastasis; the margins of resection were healthy. The immunophenotype of neoplastic population was: Vimentin, S100 and HMB45 intensely and diffusely positive; MART-1 focally positive; cytokeratin AE1/AE3, EMA, CD45, chromogranin, synaptophysin, CD34 and c-kit negative; NSE not conclusive; Ki67 12% (Fig. 4). The diagnosis was metastasis of unknown primary malignant melanoma. In order to check typical melanoma localization, the patient was subjected to opthamological, otorhinolaryngological and oncological videat with MRI and PET scan. PET scan revealed pathological hypermetabolic nodal masses in the right paramedian posterior cervical region (SUV max 6.3), right laterocervical, left retro-clavicular (SUV max 3.6), left back and scapula regions (SUV max 3.6), right axilla (SUV max 11.3), right para-
sternum region (SUV max 4.9), lower margin of the liver (SUV max 6.4), pre-sacral region (SUV max 4), left abdominal wall, left and right thigh (SUV max 6.9 and 5.8), bladder (SUV amx 5.6) with hypermetabolic focus on D7 paravertebral line (Fig. 5). Vertebral MRI confirmed “foci” described on PET and revealed other multiple masses of unknown pattern on spine, medulla, aortic and para aortic lymph nodes. Dermatologist found a suspicious naevus in epigastrium. The axillary lymphadenectomy (Fig. 1) was performed. Histology confirmed metastatic localization of melanoma. The naevus was benign. Oncologist diagnosed malignant melanoma IV stage (according to American Joint Committee on Cancer). The patient died 8 weeks after the beginning of chemotherapy, with CNS metastases.
Discussion In 4-9% of all melanoma cases the primary site is unknown. In some patients it is possible to describe a pre-
247
0650 8_Small_STAGNITTI.qxp_- 31/10/14 15:30 Pagina 248
F. Stagnitti et al.
ging can improve detection of melanoma metastases with a higher sensitivity and specificity than conventional CT (8, 9). Conventional X-ray imaging does not assure diagnostic advantages for metastases, but is useful to diagnose an intestinal obstruction (10, 11). Surgery is the only therapy for patient with metastatic melanoma. According to Murawa et al., it is strictly necessary a wide excision of the lesion (with free resection margins) with mesentery and its lymph nodes (1, 6). In this way, as a best possible case a 5-year survival rate up to 40%. However, the average survival rate of patient operated for gastro-intestinal melanoma metastasis is 15 months (1). In our case diagnostic difficulties were the negative case history about melanoma and suspicious nevus excision. The clinical features addressed toward emergency surgical treatment. The pathological features (both of intestinal and axilla tumors) were important to evidence a metastatic melanoma, and therefore to guide the diagnostic workup (11). It was performed a detailed analysis about every possible location of melanoma (oral mucosa, eye, skin): each area was negative. CT and especially PET scan allowed to know cancer extent and to define the IV stage. In our case, surgical treatment was the first means for diagnosis, and also for treating the obstruction.
Conclusions Fig. 5 - PET scan of thorax, abdomen.
vious suspicious naevus, which spontaneously regressed (1, 4). Diagnosis is often delayed due to long asymptomatic period of tumor growth or aspecific abdominal symptoms (5). Often as in our case, tumor onset is a surgical emergency (ileal intussusception) (7). Melanoma of unknown primary is a differential diagnosis after a complete physical exam of the patient (including non exposed areas, as subcuticular and under nail tissues, mucosa and eye). Abdominal ultrasound allows the research of melanoma metastasis (4, 12). PET ima-
Intestinal obstruction due to melanoma metastasis is a rare surgical condition. In any case, it is important a very detailed familiar and case history, beside a “total body” physical exam of the patient. To achieve a correct diagnostic, we suggest performing an evaluation about any typical site of primary focus melanoma (eye, oral mucosa, skin). As first step of diagnosis, abdomen ultrasound is useful to diagnose intussusception, but it is necessary to complete the work-up with CT and PET imaging. When the clinical presentation is intestinal obstruction, surgery is the only treatment and the only possibility to achieve a correct diagnosis. It is useful to perform the histopathologic exam including the immunophenotype of neoplastic population.
References 1. Murawa D, Spychala A. Melanoma of unknown primary as a cause of intestinal obstruction – a case description. Polski Przeglad Chirurgiczny. 2012;84(8):415-732. 2. Dogan M, Ozdemir S, Geçim E, Erden E, Içli F. Intestinal malignant melanoma presenting with small bowel invaginatio: a case report. The Turkish Journal of gastroenterology. 21(4):439-442. 3. Alvarez FA, Nicolas M, Goransky J, Vaccaro CA, Beskow A, Ca-
248
vadas D. Ileocolic intussusception due to intestinal metastatic melanoma. Case report and review of the literature. Int J Surg Case Rep. 2011;2(6):118-121. 4. Lens M, Bataille V, Krivokapic Z. Melanoma of the small intestine. Lancet Oncol. 2009 May;10(5):516-21. 5. Patti R, Cacciatori M, Guercio G, Territo V, Di Vita G. Intestinal melanoma: A broad spectrum of clinical presentation. Int
0650 8_Small_STAGNITTI.qxp_- 31/10/14 15:30 Pagina 249
Small bowel intussussception due to metastatic melanoma of unknown primary site. Case report J Surg Case Rep. 2012;3:395-398. 6. Nemec L, Fait V, Silak J. Gastrointestinal metastases of malignant melanoma. Rozhl Chir. 2010 Oct; 89(10):594-8. 7. Aktas A, Hod G, Topaloglu S, Calik A, Reis A, Piskin B. Metastatic cutaneous melanoma presented with ileal invagination: report of a case. Turkis Journal of Trauma and Emergency Surgery. 2010;16 (5):469-472. 8. Garbe C, Hauschild A, Saiag P, Middleton M, Spatz A, Grob JJ, Malvehy J, Newton-Bishop J, Stratigos A, Pehamberger H, Eggermont AM. Diagnosis and treatment of melanoma. European Consensus-based interdisciplinary guideline- Update 2012. Eur J Cancer. 2012 Oct;48(15):2375-90. 9. Mangas C, Parandelo C, Puig S, Gallardo F, Marcoval J, Azon A, Bartralot R, Bel S, Bigatà X, Curcò N, Dalmau J, Del Pozo LJ, Ferrandiz C, Formigon M, Nogues ME, Pedragosa R, Ro-
camora V, Sabat M, Salleras M. Initial evaluation, diagnosis, staging treatment, and follow-up of patient with primary cutaneus malignant melanoma. Consensus statement of the network of catalan and Balearic melanoma centers. Actas dermosifiliogr. 2010;101(2):129-142. 10. Vilcea ID, Vilcea AM, Mirea CS, Popescu CF, Mittrut P. Intestinal perforated malignant melanoma: diagnostic and therapeutic difficulties. Chirurgia (Bucur) 2012 Jul-Aug;107(4):529-33. 11. Patel RB, Vasava NC, Gandhi MB. Acute small bowel obstruction due to intussusception of malignant amelonatic melanoma of the small intestine. BMJ Case Report. 2012 Aug 1. 12. Shuji Suzuki, Shoichi Watanabe, Hiroshi Kato, Hideo Hattori, Akimichi Morita. A case of multiple metastatic malignant melanoma with the largest lesion in the ileum and no skin lesion. Kaohsiung Journal of Medical Sciences. 2012;28:683-688.
249
