Gastrointestinal stromal tumour - Revision history

Mark: mutations

2020-11-15T17:28:39Z

mutations

← Older revision		Revision as of 17:28, 15 November 2020
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	===Definition===		===Definition===
	*Tumour resulting from a mutation in the KIT gene ''or'' PDGFRA (Platelet-derived growth factor receptor, alpha polypeptide) gene.<ref name=pmid17090188/>		*Tumour resulting from a mutation in the KIT gene ''or'' PDGFRA (Platelet-derived growth factor receptor, alpha polypeptide) gene.<ref name=pmid17090188/>
			*Cases wild-type for KIT or PDFGRA may harbour defects in the [[succinate dehydrogenase]] complex, NF-1, BRAF, or extremely rarely KRAS.

	===Epidemiology===		===Epidemiology===
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	Notes:		Notes:
	*Small intestinal GISTs have a worse prognosis than gastric ones.<ref name=pmid17090188/>		*Small intestinal GISTs have a worse prognosis than gastric ones.<ref name=pmid17090188/>
	*GISTs almost never metastasize to the [[lymph node]]s.		*GISTs almost never metastasize to the [[lymph node]]s (except for SDH-B deficient epithelioid GISTs)
	**Most common [[metastasis]] locations: [[liver]], abdominal soft tissue.		**Most common [[metastasis]] locations: [[liver]], abdominal soft tissue.

Michael: /* Sign out */

2017-02-28T17:34:56Z

Sign out

← Older revision		Revision as of 17:34, 28 February 2017
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	NEGATIVE: Desmin, S-100.		NEGATIVE: Desmin, S-100.
	PROLIFERATION (Ki-67): <1%.		PROLIFERATION (Ki-67): <1%.
			</pre>

			====Incidental GIST====
			<pre>
			Partial Stomach, Sleeve Gastrectomy:
			- Stomach wall with incidental GASTROINTESTINAL STROMAL TUMOUR (GIST), 2 mm in maximal dimension.
			-- Margin clear.
			- Gastric mucosa within normal limits.

			Comment:
			The tumour stains as follows:
			POSITIVE: DOG1, CD117, CD34.
			NEGATIVE: desmin, S-100.
			PROLIFERATION (Ki-67): <2%.
	</pre>		</pre>

Michael: /* Microscopic */

2016-07-10T16:25:06Z

Microscopic

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	** May be epithelioid (round) ~40% of tumours.		** May be epithelioid (round) ~40% of tumours.
	** Mixed epithelioid and spindle cell tumours ~10% tumours.		** Mixed epithelioid and spindle cell tumours ~10% tumours.
	*+/-Cytoplasmic inclusions<ref name=pmid7757951>{{cite journal \|author=Pasquinelli G, Severi B, Martinelli GN, Santini D, Gelli MC, Tison V \|title=Gastro-intestinal stromal tumors: an ultrastructural reinterpretation of the clear cell component \|journal=J. Submicrosc. Cytol. Pathol. \|volume=27 \|issue=2 \|pages=251–7 \|year=1995 \|month=April \|pmid=7757951 \|doi= \|url=}}</ref>		*+/-Cytoplasmic inclusions<ref name=pmid7757951>{{cite journal \|author=Pasquinelli G, Severi B, Martinelli GN, Santini D, Gelli MC, Tison V \|title=Gastro-intestinal stromal tumors: an ultrastructural reinterpretation of the clear cell component \|journal=J. Submicrosc. Cytol. Pathol. \|volume=27 \|issue=2 \|pages=251–7 \|year=1995 \|month=April \|pmid=7757951 \|doi= \|url=}}</ref> - perinuclear.<ref>{{Cite journal \| last1 = Boşoteanu \| first1 = M. \| last2 = Boşoteanu \| first2 = C. \| last3 = Deacu \| first3 = M. \| last4 = Aşchie \| first4 = M. \| title = Differential diagnosis of a gastric stromal tumor: case report and literature review. \| journal = Rom J Morphol Embryol \| volume = 52 \| issue = 4 \| pages = 1361-8 \| month = \| year = 2011 \| doi = \| PMID = 22203947 }}</ref>
	*Classically splits the layers of the ''muscularis propria'' - as this is where the ''interstitial cells of Cajal'' are located.<ref name=pmid16402273>{{cite journal \|author=Agaimy A, Wünsch PH \|title=Gastrointestinal stromal tumours: a regular origin in the muscularis propria, but an extremely diverse gross presentation. A review of 200 cases to critically re-evaluate the concept of so-called extra-gastrointestinal stromal tumours \|journal=Langenbecks Arch Surg \|volume=391 \|issue=4 \|pages=322–9 \|year=2006 \|month=August \|pmid=16402273 \|doi=10.1007/s00423-005-0005-5 \|url=}}</ref> - perinuclear.<ref>{{Cite journal \| last1 = Boşoteanu \| first1 = M. \| last2 = Boşoteanu \| first2 = C. \| last3 = Deacu \| first3 = M. \| last4 = Aşchie \| first4 = M. \| title = Differential diagnosis of a gastric stromal tumor: case report and literature review. \| journal = Rom J Morphol Embryol \| volume = 52 \| issue = 4 \| pages = 1361-8 \| month = \| year = 2011 \| doi = \| PMID = 22203947 }}</ref>		*Classically splits the layers of the ''muscularis propria'' - as this is where the ''interstitial cells of Cajal'' are located.<ref name=pmid16402273>{{cite journal \|author=Agaimy A, Wünsch PH \|title=Gastrointestinal stromal tumours: a regular origin in the muscularis propria, but an extremely diverse gross presentation. A review of 200 cases to critically re-evaluate the concept of so-called extra-gastrointestinal stromal tumours \|journal=Langenbecks Arch Surg \|volume=391 \|issue=4 \|pages=322–9 \|year=2006 \|month=August \|pmid=16402273 \|doi=10.1007/s00423-005-0005-5 \|url=}}</ref>
	*+/-Skenoid fibres - extracellular collagen bundles<ref name=pmid15798063/> ~ 2-5 x 60 micrometers - uncommon finding.		*+/-Skenoid fibres - extracellular collagen bundles<ref name=pmid15798063/> ~ 2-5 x 60 micrometers - uncommon finding.
	**Not seen in gastric GISTs.<ref name=pmid12692202/>		**Not seen in gastric GISTs.<ref name=pmid12692202/>

Michael: /* Microscopic */

2016-07-10T16:24:17Z

Microscopic

← Older revision		Revision as of 16:24, 10 July 2016
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	** May be epithelioid (round) ~40% of tumours.		** May be epithelioid (round) ~40% of tumours.
	** Mixed epithelioid and spindle cell tumours ~10% tumours.		** Mixed epithelioid and spindle cell tumours ~10% tumours.
	*+/-Cytoplasmic inclusions.<ref name=pmid7757951>{{cite journal \|author=Pasquinelli G, Severi B, Martinelli GN, Santini D, Gelli MC, Tison V \|title=Gastro-intestinal stromal tumors: an ultrastructural reinterpretation of the clear cell component \|journal=J. Submicrosc. Cytol. Pathol. \|volume=27 \|issue=2 \|pages=251–7 \|year=1995 \|month=April \|pmid=7757951 \|doi= \|url=}}</ref>		*+/-Cytoplasmic inclusions<ref name=pmid7757951>{{cite journal \|author=Pasquinelli G, Severi B, Martinelli GN, Santini D, Gelli MC, Tison V \|title=Gastro-intestinal stromal tumors: an ultrastructural reinterpretation of the clear cell component \|journal=J. Submicrosc. Cytol. Pathol. \|volume=27 \|issue=2 \|pages=251–7 \|year=1995 \|month=April \|pmid=7757951 \|doi= \|url=}}</ref>
	*Classically splits the layers of the ''muscularis propria'' - as this is where the ''interstitial cells of Cajal'' are located.<ref name=pmid16402273>{{cite journal \|author=Agaimy A, Wünsch PH \|title=Gastrointestinal stromal tumours: a regular origin in the muscularis propria, but an extremely diverse gross presentation. A review of 200 cases to critically re-evaluate the concept of so-called extra-gastrointestinal stromal tumours \|journal=Langenbecks Arch Surg \|volume=391 \|issue=4 \|pages=322–9 \|year=2006 \|month=August \|pmid=16402273 \|doi=10.1007/s00423-005-0005-5 \|url=}}</ref>		*Classically splits the layers of the ''muscularis propria'' - as this is where the ''interstitial cells of Cajal'' are located.<ref name=pmid16402273>{{cite journal \|author=Agaimy A, Wünsch PH \|title=Gastrointestinal stromal tumours: a regular origin in the muscularis propria, but an extremely diverse gross presentation. A review of 200 cases to critically re-evaluate the concept of so-called extra-gastrointestinal stromal tumours \|journal=Langenbecks Arch Surg \|volume=391 \|issue=4 \|pages=322–9 \|year=2006 \|month=August \|pmid=16402273 \|doi=10.1007/s00423-005-0005-5 \|url=}}</ref> - perinuclear.<ref>{{Cite journal \| last1 = Boşoteanu \| first1 = M. \| last2 = Boşoteanu \| first2 = C. \| last3 = Deacu \| first3 = M. \| last4 = Aşchie \| first4 = M. \| title = Differential diagnosis of a gastric stromal tumor: case report and literature review. \| journal = Rom J Morphol Embryol \| volume = 52 \| issue = 4 \| pages = 1361-8 \| month = \| year = 2011 \| doi = \| PMID = 22203947 }}</ref>
	*+/-Skenoid fibres - extracellular collagen bundles<ref name=pmid15798063/> ~ 2-5 x 60 micrometers - uncommon finding.		*+/-Skenoid fibres - extracellular collagen bundles<ref name=pmid15798063/> ~ 2-5 x 60 micrometers - uncommon finding.
	**Not seen in gastric GISTs.<ref name=pmid12692202/>		**Not seen in gastric GISTs.<ref name=pmid12692202/>

Michael: /* Factors predictive of malignant behaviour */

2016-07-10T16:19:09Z

Factors predictive of malignant behaviour

← Older revision		Revision as of 16:19, 10 July 2016
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	*Large size.		*Large size.
	**Often benign if small size.		**Often benign if small size.
	*High mitotic rate (for area 5mm^2).		*High mitotic rate (for area 5mm<sup>2</sup>).
	*Site - small intestine GISTs worse than stomach GISTs.		*Site - small intestine GISTs worse than stomach GISTs.

	Small intestine bad prognosis:<ref name=pmid17090188/>		Small intestine bad prognosis:<ref name=pmid17090188/>
	* >5 mitoses/5 mm^2 ''or'' size >10 cm.		* >5 mitoses/5 mm<sup>2</sup> ''or'' size >10 cm.

	Stomach bad prognosis:<ref name=pmid17090188/>		Stomach bad prognosis:<ref name=pmid17090188/>
	* >5 mitoses/5 mm^2 ''and'' size >5 cm.		* >5 mitoses/5 mm<sup>2</sup> ''and'' size >5 cm.

	===Location===		===Location===

Michael at 17:22, 27 May 2016

2016-05-27T17:22:57Z

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	\| LMDDx = [[schwannoma]], [[leiomyoma]], [[leiomyosarcoma]], [[neurofibroma]], [[desmoid-type fibromatosis]]		\| LMDDx = [[schwannoma]], [[leiomyoma]], [[leiomyosarcoma]], [[neurofibroma]], [[desmoid-type fibromatosis]]
	\| Stains =		\| Stains =
	\| IHC = CD117 +ve, ~~DOG-1~~ +ve, CD34 +ve, S-100 -ve		\| IHC = CD117 +ve, [[DOG1]] +ve, CD34 +ve, S-100 -ve
	\| EM =		\| EM =
	\| Molecular = mutation in KIT gene ''or'' PDGFRA gene		\| Molecular = mutation in KIT gene ''or'' PDGFRA gene
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	*CD117 +ve in 95%.<ref name=pmid17090188/>		*CD117 +ve in 95%.<ref name=pmid17090188/>
	**[[Mast cell]]s are the internal positive control.		**[[Mast cell]]s are the internal positive control.
	*DOG1 +ve.<ref name=pmid19011564>{{Cite journal \| last1 = Liegl \| first1 = B. \| last2 = Hornick \| first2 = JL. \| last3 = Corless \| first3 = CL. \| last4 = Fletcher \| first4 = CD. \| title = Monoclonal antibody DOG1.1 shows higher sensitivity than KIT in the diagnosis of gastrointestinal stromal tumors, including unusual subtypes. \| journal = Am J Surg Pathol \| volume = 33 \| issue = 3 \| pages = 437-46 \| month = Mar \| year = 2009 \| doi = 10.1097/PAS.0b013e318186b158 \| PMID = 19011564 }}</ref>		*[[DOG1]] +ve.<ref name=pmid19011564>{{Cite journal \| last1 = Liegl \| first1 = B. \| last2 = Hornick \| first2 = JL. \| last3 = Corless \| first3 = CL. \| last4 = Fletcher \| first4 = CD. \| title = Monoclonal antibody DOG1.1 shows higher sensitivity than KIT in the diagnosis of gastrointestinal stromal tumors, including unusual subtypes. \| journal = Am J Surg Pathol \| volume = 33 \| issue = 3 \| pages = 437-46 \| month = Mar \| year = 2009 \| doi = 10.1097/PAS.0b013e318186b158 \| PMID = 19011564 }}</ref>
	**More sensitive than CD117.

	Others:		Others:

Michael at 17:35, 15 May 2016

2016-05-15T17:35:29Z

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	\| Gross =		\| Gross =
	\| Grossing =		\| Grossing =
			\| Staging = [[gastrointestinal stromal tumour staging]]
	\| Site = [[stomach]], [[small intestine]], other sites		\| Site = [[stomach]], [[small intestine]], other sites
	\| Assdx =		\| Assdx =

Michael at 17:15, 15 May 2016

2016-05-15T17:15:02Z

← Older revision		Revision as of 17:15, 15 May 2016
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	==Gastrointestinal stromal tumour staging==		==Gastrointestinal stromal tumour staging==
	{{Main\|Gastrointestinal stromal tumour staging}}		{{Main\|Gastrointestinal stromal tumour staging}}
			GIST has its own staging.

	==Sign out==		==Sign out==

Michael at 17:13, 15 May 2016

2016-05-15T17:13:42Z

← Older revision		Revision as of 17:13, 15 May 2016
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	**Exon 11 mutation associated with malignant behaviour.<ref name=pmid9916918>{{Cite journal \| last1 = Lasota \| first1 = J. \| last2 = Jasinski \| first2 = M. \| last3 = Sarlomo-Rikala \| first3 = M. \| last4 = Miettinen \| first4 = M. \| title = Mutations in exon 11 of c-Kit occur preferentially in malignant versus benign gastrointestinal stromal tumors and do not occur in leiomyomas or leiomyosarcomas. \| journal = Am J Pathol \| volume = 154 \| issue = 1 \| pages = 53-60 \| month = Jan \| year = 1999 \| doi = 10.1016/S0002-9440(10)65250-9 \| PMID = 9916918 }}</ref>		**Exon 11 mutation associated with malignant behaviour.<ref name=pmid9916918>{{Cite journal \| last1 = Lasota \| first1 = J. \| last2 = Jasinski \| first2 = M. \| last3 = Sarlomo-Rikala \| first3 = M. \| last4 = Miettinen \| first4 = M. \| title = Mutations in exon 11 of c-Kit occur preferentially in malignant versus benign gastrointestinal stromal tumors and do not occur in leiomyomas or leiomyosarcomas. \| journal = Am J Pathol \| volume = 154 \| issue = 1 \| pages = 53-60 \| month = Jan \| year = 1999 \| doi = 10.1016/S0002-9440(10)65250-9 \| PMID = 9916918 }}</ref>
	**Secondary mutations of c-kit lead to imatinib resistance,<ref name=pmid26779618>{{Cite journal \| last1 = Wada \| first1 = N. \| last2 = Kurokawa \| first2 = Y. \| last3 = Takahashi \| first3 = T. \| last4 = Hamakawa \| first4 = T. \| last5 = Hirota \| first5 = S. \| last6 = Naka \| first6 = T. \| last7 = Miyazaki \| first7 = Y. \| last8 = Makino \| first8 = T. \| last9 = Yamasaki \| first9 = M. \| title = Detecting Secondary C-KIT Mutations in the Peripheral Blood of Patients with Imatinib-Resistant Gastrointestinal Stromal Tumor. \| journal = Oncology \| volume = 90 \| issue = 2 \| pages = 112-7 \| month = \| year = 2016 \| doi = 10.1159/000442948 \| PMID = 26779618 }}</ref> and resistance to other similar inhibitors.		**Secondary mutations of c-kit lead to imatinib resistance,<ref name=pmid26779618>{{Cite journal \| last1 = Wada \| first1 = N. \| last2 = Kurokawa \| first2 = Y. \| last3 = Takahashi \| first3 = T. \| last4 = Hamakawa \| first4 = T. \| last5 = Hirota \| first5 = S. \| last6 = Naka \| first6 = T. \| last7 = Miyazaki \| first7 = Y. \| last8 = Makino \| first8 = T. \| last9 = Yamasaki \| first9 = M. \| title = Detecting Secondary C-KIT Mutations in the Peripheral Blood of Patients with Imatinib-Resistant Gastrointestinal Stromal Tumor. \| journal = Oncology \| volume = 90 \| issue = 2 \| pages = 112-7 \| month = \| year = 2016 \| doi = 10.1159/000442948 \| PMID = 26779618 }}</ref> and resistance to other similar inhibitors.

			==Gastrointestinal stromal tumour staging==
			{{Main\|Gastrointestinal stromal tumour staging}}

	==Sign out==		==Sign out==

Michael at 04:03, 15 March 2016

2016-03-15T04:03:06Z

← Older revision		Revision as of 04:03, 15 March 2016
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	\| Site = [[stomach]], [[small intestine]], other sites		\| Site = [[stomach]], [[small intestine]], other sites
	\| Assdx =		\| Assdx =
	\| Syndromes = [[Neurofibromatosis type 1]], [[Carney triad]], Carney-Stratakis syndrome		\| Syndromes = [[Neurofibromatosis type 1]], [[Carney triad]], [[Carney-Stratakis syndrome]]
	\| Clinicalhx =		\| Clinicalhx =
	\| Signs =		\| Signs =